2024 Frontiers in Genetics
Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia
Alaamery M+, Massadeh S+, Aldarwish M, Albesher N, Aljawini N, Alahmed O, Kashgari A, Walsh CA, Eyaid W.
Front Genet. 2024 Jan 16:14:1294214. DOI: 10.3389/fgene.2023.1294214
PMID: 38292436
2024 bioRxiv
Somatic cancer driver mutations are enriched and associated with inflammatory states in Alzheimer’s disease microglia
Huang AY +, Zhou Z+, Talukdar M+, Miller MB, Chhouk B, Enyenihi L, Rosen I, Stronge E, Zhao B, Kim D, Choi J, Khoshkhoo S, Kim J, Ganz J, Travaglini KJ, Gabitto M, Hodge RD, Kaplan I, Lein E, De Jager P, Bennet DA, Lee EA+, Walsh CA+.
bioRxiv. 2024 Jan 4:2024. doi: https://doi.org/10.1101/2024.01.03.574078. Preprint, in revision.
2024 Neurol Genet
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology
Phillips+ HW, D’Gama+ AM, Wang+ Y, Chahine Y, Chiu M, Swanson AC, Ahtam B, Bolton JB, Madsen JR, Lee EA, Prabhu SP, Lidov HG, Papadakis J, Huang+ AY, Poduri+ A, Stone+ SS, Walsh+ CA.
Neurol Genet. 2023 Dec 22;10(1):e200117. doi: 10.1212/NXG.0000000000200117.
PMID: 38149038; PMCID: PMC10751024
2023 Science
Neurosurgery elucidates somatic mutations
Maury EA, Walsh CA, Kahle KT.
Science. 2023 Dec 22;382(6677):1360-1362. doi: 10.1126/science.adj2244.
PMID: 38127765
2023 Developmental Cell
Shaping the brain: The emergence of cortical structure and folding
Akula+ SK, Exposito-Alonso+ D, Walsh CA.
Dev Cell. 2023 Dec 18;58(24):2836-2849. doi: 10.1016/j.devcel.2023.11.004.
PMID: 38113850
2023 bioRxiv
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations
Zhou+ Z, Kim+ J, Huang+ AY, Nolan M, Park J, Doan R, Shin T, Miller MB, Chhouk B, Morillo K, Yeh RC, Kenny C, Neil JE, Lee CZ, Ohkubo T, Ravits J, Ansorge O, Ostrow LW, Lagier-Tourenne+ C, Lee+ EA, Walsh+ CA.
bioRxiv. 2023 Dec 1:2023.11.30.569436. doi: 10.1101/2023.11.30.569436. Preprint, in revision.
PMID: 38077003; PMCID: PMC10705414
2023 bioRxiv
Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex
Kim+ SN, Viswanadham+ VV, Doan RN, Dou Y, Bizzotto S, Khoshkhoo S, Huang AY, Yeh R, Chhouk B, Truong A, Chappell KM, Beaudin M, Barton A, Akula SK, Rento L, Lodato M, Ganz J, Szeto RA, Li P, Tsai JW, Hill RS, Park+ PJ, Walsh+ CA.
bioRxiv. 2023 Nov 6:2023.11.06.565899. doi: 10.1101/2023.11.06.565899. Preprint, under revision.
PMID: 37986891; PMCID: PMC10659282
2023 medRxiv
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk
Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Qian X, Bonacina J, Papandile F, Antony I, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, WalshCA.
medRxiv. 2023 Sep 22:2023.09.19.23295780. doi: 10.1101/2023.09.19.23295780. Preprint
PMID: 37790480; PMCID: PMC10543033
2023 JAMA Neurology
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O’Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O’Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network.
JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363.
PMID: 37486637; PMCID: PMC10366952.
2023 Cell Genomics
Schizophrenia-associated somatic copy-number variants from 12,834 cases reveal recurrent NRXN1 and ABCB11 disruptions.
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Kamath T, Burris SJ, Rajarajan P, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Macosko EZ, Walters JTR, O’Donovan M, Sullivan P; Psychiatric Genomic Consortium Schizophrenia and CNV workgroup; Brain Somatic Mosaicism Network; Sebat J, Lee EA, Walsh CA.
Cell Genom. 2023 Jul 6;3(8):100356. doi: 10.1016/j.xgen.2023.100356.
PMID: 37601975; PMCID: PMC10435376.
2023 Proc Natl Acad Sci USA
Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome.
Dias CM, Issac B, Sun L, Lukowicz A, Talukdar M, Akula SK, Miller MB, Walsh K, Rockowitz S, Walsh CA.
Proc Natl Acad Sci U S A. 2023 Jun 6;120(23):e2300052120. doi: 10.1073/pnas.2300052120. Epub 2023 May 30.
PMID: 37252957; PMCID: PMC10265985.
2023 JAMA Neurology
Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.
Khoshkhoo S, Wang Y, Chahine Y, Erson-Omay EZ, Robert SM, Kiziltug E, Damisah EC, Nelson-Williams C, Zhu G, Kong W, Huang AY, Stronge E, Phillips HW, Chhouk BH, Bizzotto S, Chen MH, Adikari TN, Ye Z, Witkowski T, Lai D, Lee N, Lokan J, Scheffer IE, Berkovic SF, Haider S, Hildebrand MS, Yang E, Gunel M, Lifton RP, Richardson RM, Blümcke I, Alexandrescu S, Huttner A, Heinzen EL, Zhu J, Poduri A, DeLanerolle N, Spencer DD, Lee EA, Walsh CA, Kahle KT.
JAMA Neurol. 2023 May 1:e230473. doi: 10.1001/jamaneurol.2023.0473. Epub ahead of print.
PMID: 37126322; PMCID: PMC10152377.
2023 Am J Hum Genetics
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
Tepe B, Macke EL, Niceta M, Weisz Hubshman M, Kanca O, Schultz-Rogers L, Zarate YA, Schaefer GB, Granadillo De Luque JL, Wegner DJ, Cogne B, Gilbert-Dussardier B, Le Guillou X, Wagner EJ, Pais LS, Neil JE, Mochida GH, Walsh CA, Magal N, Drasinover V, Shohat M, Schwab T, Schmitz C, Clark K, Fine A, Lanpher B, Gavrilova R, Blanc P, Burglen L, Afenjar A, Steel D, Kurian MA, Prabhakar P, Gößwein S, Di Donato N, Bertini ES; Undiagnosed Diseases Network; Wangler MF, Yamamoto S, Tartaglia M, Klee EW, Bellen HJ.
Am J Hum Genet. 2023 May 4;110(5):774-789. doi: 10.1016/j.ajhg.2023.03.012. Epub 2023 Apr 12.
PMID: 37054711; PMCID: PMC10183469.
2023 Clinical Genetics
A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay.
Mo A, Paz-Ebstein E, Yanovsky-Dagan S, Lai A, Mor-Shaked H, Gilboa T, Yang E, Shao DD, Walsh CA, Harel T.
Clin Genet. 2023 Apr 2. doi: 10.1111/cge.14335. Epub ahead of print.
PMID: 37005340.
2023 BioRxiv
Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain
Ganz J, Luquette LJ, Bizzotto S, Bohrson CL, Jin H, Miller MB, Zhou Z, Galor A, Park PJ, Walsh CA.
bioRxiv [Preprint]. 2023 Jan 14:2023.01.14.523958. doi: 10.1101/2023.01.14.523958.
PMID: 36711756; PMCID: PMC9882228.
2023 Proc Natl Acad Sci U S A
TMEM161B regulates cerebral cortical gyration, Sonic Hedgehog signaling, and ciliary structure in the developing central nervous system
Akula SK, Marciano JH, Lim Y, Exposito-Alonso D, Hylton NK, Hwang GH, Neil JE, Dominado N, Bunton-Stasyshyn RK, Song JHT, Talukdar M, Schmid A, Teboul L, Mo A, Shin T, Finander B, Beck SG, Yeh RC, Otani A, Qian X, DeGennaro EM, Alkuraya FS, Maddirevula S, Cascino GD, Giannini C, Undiagnosed Diseases Network; Burrage LC, Rosenfield JA, Ketkar S, Clark GD, Bacino C, Lewis RA, Segal RA, Bazan JF, Smith KA, Golden JA, Cho G, Walsh CA.
Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209964120. doi: 10.1073/pnas.2209964120. Epub 2023 Jan 20. PMID: 36669111; PMCID: PMC9942790.
2022 Dev Cell
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA.;
Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12. PMID: 36228617.
2022 Nat Genet
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
Luquette LJ, Miller MB, Zhou Z, Bohrson CL, Zhao Y, Jin H, Gulhan D, Ganz J, Bizzotto S, Kirkham S, Hochepied T, Libert C, Galor A, Kim J, Lodato MA, Garaycoechea JI, Gawad C, West J, Walsh CA, Park PJ.
Nat Genet. 2022 Oct;54(10):1564-1571. doi: 10.1038/s41588-022-01180-2. Epub 2022 Sep 26. PMID: 36163278; PMCID: PMC9833626.
2022 Nat Commun
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders
Kim J, Huang AY, Johnson SL, Lai J, Isacco L, Jeffries AM, Miller MB, Lodato MA, Walsh CA, Lee EA;
Nat Commun. 2022 Oct 7;13(1):5918. doi: 10.1038/s41467-022-33642-w. PMID: 36207339; PMCID: PMC9546902.
2022 Genet Med
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel.
Genet Med. 2022 Aug 22:S1098-3600(22)00871-1. doi: 10.1016/j.gim.2022.07.020. Epub ahead of print. PMID: 35997716.
2022 Nat Aging
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity
Choudhury S, Huang AY, Kim J, Zhou Z, Morillo K, Maury EA, Tsai JW, Miller MB, Lodato MA, Araten S, Hilal N, Lee EA, Chen MH, Walsh CA.
Nat Aging. 2022 Aug;2(8):714-725. doi: 10.1038/s43587-022-00261-5. Epub 2022 Aug 11. PMID: 36051457; PMCID: PMC9432807.
2022 Ann Clin Transl Neurol
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM.
Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. PMID: 35871307; PMCID: PMC9380164.
2022 Nat Rev Neurosci
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
Bizzotto S, Walsh CA.
Nat Rev Neurosci. 2022 May;23(5):275-286. doi: 10.1038/s41583-022-00572-x. Epub 2022 Mar 23. PMID: 35322263.
2022 Nature
Somatic genomic changes in single Alzheimer’s disease neurons.
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA..
Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20. PMID: 35444284.
2022 Genet Med.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X. .
Genet Med. 2022 Feb;24(2):319-331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. PMID: 34906466; PMCID: PMC8802223.
2022 BioRxiv
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Maury EA, Jones A, Seplyarskiy V, Rosenbluh G, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Brain Somatic Mosaicism Network, Park PJ, Akbarian Schahram, Lee EA, Sunyaev SR, Walsh CA, Chess A.
doi: https://doi.org/10.1101/2022.02.23.481681
2022 MedRxiv
Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Rajarajan Prashanth, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Walters JTR, O’Donovan M, Sullivan P, Psychiatric Genomic Consortium Schizophrenia and CNV workgroup, Brain Somatic Mosaicism Network, Sebat J, Lee EA, Walsh CA
doi: https://doi.org/10.1101/2021.12.24.21268385
2022 Dev Cell
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
Qian X, DeGennaro EM, Talukdar M, Akula SK, Lai A, Shao DD, Gonzalez D, Marciano JH, Smith RS, Hylton NK, Yang E, Bazan JF, Barrett L, Yeh RC, Hill RS, Beck SG, Otani A, Angad J, Mitani T, Posey JE, Pehlivan D, Calame D, Aydin H, Yesilbas O, Parks KC, Argilli E, England E, Im K, Taranath A, Scott HS, Barnett CP, Arts P, Sherr EH, Lupski JR, Walsh CA.;
Dev Cell. 2022 Oct 24;57(20):2381-2396.e13. doi: 10.1016/j.devcel.2022.09.011. Epub 2022 Oct 12. PMID: 36228617.
2022 Nat Genet
Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements
Luquette LJ, Miller MB, Zhou Z, Bohrson CL, Zhao Y, Jin H, Gulhan D, Ganz J, Bizzotto S, Kirkham S, Hochepied T, Libert C, Galor A, Kim J, Lodato MA, Garaycoechea JI, Gawad C, West J, Walsh CA, Park PJ.
Nat Genet. 2022 Oct;54(10):1564-1571. doi: 10.1038/s41588-022-01180-2. Epub 2022 Sep 26. PMID: 36163278; PMCID: PMC9833626.
2022 Nat Commun
Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders
Kim J, Huang AY, Johnson SL, Lai J, Isacco L, Jeffries AM, Miller MB, Lodato MA, Walsh CA, Lee EA;
Nat Commun. 2022 Oct 7;13(1):5918. doi: 10.1038/s41467-022-33642-w. PMID: 36207339; PMCID: PMC9546902.
2022 Genet Med
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2
Lai A, Soucy A, El Achkar CM, Barkovich AJ, Cao Y, DiStefano M, Evenson M, Guerrini R, Knight D, Lee YS, Mefford HC, Miller DT, Mirzaa G, Mochida G, Rodan LH, Patel M, Smith L, Spencer S, Walsh CA, Yang E, Yuskaitis CJ, Yu T, Poduri A; ClinGen Brain Malformation Variant Curation Expert Panel.
Genet Med. 2022 Aug 22:S1098-3600(22)00871-1. doi: 10.1016/j.gim.2022.07.020. Epub ahead of print. PMID: 35997716.
2022 Nat Aging
Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity
Choudhury S, Huang AY, Kim J, Zhou Z, Morillo K, Maury EA, Tsai JW, Miller MB, Lodato MA, Araten S, Hilal N, Lee EA, Chen MH, Walsh CA.
Nat Aging. 2022 Aug;2(8):714-725. doi: 10.1038/s43587-022-00261-5. Epub 2022 Aug 11. PMID: 36051457; PMCID: PMC9432807.
2022 Ann Clin Transl Neurol
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM.
Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. PMID: 35871307; PMCID: PMC9380164.
2022 Nat Rev Neurosci
Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders
Bizzotto S, Walsh CA.
Nat Rev Neurosci. 2022 May;23(5):275-286. doi: 10.1038/s41583-022-00572-x. Epub 2022 Mar 23. PMID: 35322263.
2022 Nature
Somatic genomic changes in single Alzheimer’s disease neurons.
Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA..
Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20. PMID: 35444284.
2022 Genet Med.
Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.
Qi C, Feng I, Costa AR, Pinto-Costa R, Neil JE, Caluseriu O, Li D, Ganetzky RD, Brasch-Andersen C, Fagerberg C, Hansen LK, Bupp C, Muraresku CC, Ruan X, Kang B, Hu K, Zhong R, Brites P, Bhoj EJ, Hill RS, Falk MJ, Hakonarson H, Kahle KT, Sousa MM, Walsh CA, Zhang X. .
Genet Med. 2022 Feb;24(2):319-331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. PMID: 34906466; PMCID: PMC8802223.
2022 BioRxiv
Enrichment of somatic mutations in schizophrenia brain targets prenatally active transcription factor bindings sites
Maury EA, Jones A, Seplyarskiy V, Rosenbluh G, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Brain Somatic Mosaicism Network, Park PJ, Akbarian Schahram, Lee EA, Sunyaev SR, Walsh CA, Chess A.
doi: https://doi.org/10.1101/2022.02.23.481681
2022 MedRxiv
Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions
Maury EA, Sherman MA, Genovese G, Gilgenast TG, Rajarajan Prashanth, Flaherty E, Akbarian S, Chess A, McCarroll SA, Loh PR, Phillips-Cremins JE, Brennand KJ, Walters JTR, O’Donovan M, Sullivan P, Psychiatric Genomic Consortium Schizophrenia and CNV workgroup, Brain Somatic Mosaicism Network, Sebat J, Lee EA, Walsh CA
doi: https://doi.org/10.1101/2021.12.24.21268385
2021 Eur J Hum Genet
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Haag N, Tan EC, Begemann M, Buschmann L, Kraft F, Holschbach P, Lai AHM, Brett M, Mochida GH, DiTroia S, Pais L, Neil JE, Al-Saffar M, Bastaki L, Walsh CA, Kurth I, Knopp C.
Eur J Hum Genet. 2021 Nov;29(11):1663-1668. doi: 10.1038/s41431-021-00943-5. Epub 2021 Aug 20. PMID: 34413497; PMCID: PMC8560748.
2021 Mob DNA
Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder.
Borges-Monroy R, Chu C, Dias C, Choi J, Lee S, Gao Y, Shin T, Park PJ, Walsh CA, Lee EA. .
Mob DNA. 2021 Nov 27;12(1):28. doi: 10.1186/s13100-021-00256-w. PMID: 34838103; PMCID: PMC8627061.
2021 Am J Med Genet A
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
Dias C, Pfundt R, Kleefstra T, Shuurs-Hoeijmakers J, Boon EMJ, van Hagen JM, Zwijnenburg P, Weiss MM, Keren B, Mignot C, Isapof A, Weiss K, Hershkovitz T, Iascone M, Maitz S, Feichtinger RG, Kotzot D, Mayr JA, Ben-Omran T, Mahmoud L, Pais LS, Walsh CA, Shashi V, Sullivan JA, Stong N, Lecoquierre F, Guerrot AM, Charollais A, Rodan LH.
Am J Med Genet A. 2021 Aug; 185(8): 2384-90. Epub 2021/05/19. doi: 10.1002/ajmg.a.62254.
PubMed ID: 34003604
2021 Neuron
Rewiring of human neurodevelopmental gene regulatory programs by human accelerated regions.
Girskis KM, Stergachis AB, DeGennaro EM, Doan RN, Qian X, Johnson MB, Wang PP, Sejourne GM, Nagy MA, Pollina EA, Sousa AMM, Shin T, Kenny CJ, Scotellaro JL, Debo BM, Gonzalez DM, Rento LM, Yeh RC, Song JHT, Beaudin M, Fan J, Kharchenko PV, Sestan N, Greenberg ME, Walsh CA.
Neuron. 2021 Aug 25. Epub 2021/09/04. doi: 10.1016/j.neuron.2021.08.005.
PubMed ID: 34478631
2021 Cancer Discov
Rates and patterns of clonal oncogenic mutations in the normal human brain.
Ganz J, Maury EA, Becerra B, Bizzotto S, Doan RN, Kenny CJ, Shin T, Kim J, Zhou Z, Ligon KL, Lee EA, Walsh CA.
Cancer Discov. 2021 Aug 13. Epub 2021/08/15. doi: 10.1158/2159-8290.Cd-21-0245.
PubMed ID: 34389641
2021 Brain Pathol
Application of single cell genomics to focal epilepsies: A call to action.
Khoshkhoo S, Lal D, Walsh CA.
Brain Pathol. 2021 Jul;31(4):e12958. doi: 10.1111/bpa.12958. PMID: 34196990; PMCID: PMC8412079.
2021 Science
Landmarks of human embryonic development inscribed in somatic mutations.
Bizzotto S, Dou Y, Ganz J, Doan RN, Kwon M, Bohrson CL, Kim SN, Bae T, Abyzov A, Park PJ, Walsh CA.
Science. 2021 Mar 19; 371(6535): 1249-53. Epub 2021/03/20. doi: 10.1126/science.abe1544.
PubMed ID: 33737485; PubMed Central ID: PMC8170505
2021 Mol Psychiatry
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.
Brownstein CA, Smith RS, Rodan LH, Gorman MP, Hojlo MA, Garvey EA, Li J, Cabral K, Bowen JJ, Rao AS, Genetti CA, Carroll D, Deaso EA, Agrawal PB, Rosenfeld JA, Bi W, Howe J, Stavropoulos DJ, Hansen AW, Hamoda HM, Pinard F, Caracansi A, Walsh CA, D’Angelo EJ, Beggs AH, Zarrei M, Gibbs RA, Scherer SW, Glahn DC, Gonzalez-Heydrich J.
Mol Psychiatry. 2021 May; 26(5): 1706-18. Epub 2021/02/19. doi: 10.1038/s41380-021-01035-y.
PubMed ID: 33597717; PubMed Central ID: PMC8159744
2021 BMC Med Genomics
MIPP-Seq: ultra-sensitive rapid detection and validation of low-frequency mosaic mutations.
Doan RN, Miller MB, Kim SN, Rodin RE, Ganz J, Bizzotto S, Morillo KS, Huang AY, Digumarthy R, Zemmel Z, Walsh CA.
BMC Med Genomics. 2021 Feb 12; 14(1): 47. Epub 2021/02/14. doi: 10.1186/s12920-021-00893-3.
PubMed ID: 33579278; PubMed Central ID: PMC7881461
2021 Genet Med
A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features.
Shao DD, Straussberg R, Ahmed H, Khan A, Tian S, Hill RS, Smith RS, Majmundar AJ, Ameziane N, Neil JE, Yang E, Al Tenaiji A, Jamuar SS, Schlaeger TM, Al-Saffar M, Hovel I, Al-Shamsi A, Basel-Salmon L, Amir AZ, Rento LM, Lim JY, Ganesan I, Shril S, Evrony G, Barkovich AJ, Bauer P, Hildebrandt F, Dong M, Borck G, Beetz C, Al-Gazali L, Eyaid W, Walsh CA.
Genet Med. 2021 Jun; 23(6): 1158-62. Epub 2021/02/04. doi: 10.1038/s41436-021-01097-x.
PubMed ID: 33531666; PubMed Central ID: PMC8187145
2021 Curr Opin Genet Dev
Somatic copy number variants in neuropsychiatric disorders.
Maury EA, Walsh CA.
Curr Opin Genet Dev. 2021 Jun; 68: 9-17. Epub 2021/01/15. doi: 10.1016/j.gde.2020.12.013.
PubMed ID: 33444936; PubMed Central ID: PMC8205940
2021 Proc Natl Acad Sci U S A
Early role for a Na +,K +-ATPase ( ATP1A3) in brain development
Smith RS, Florio M, Akula SK, Neil JE, Wang Y, Hill RS, Goldman M, Mullally CD, Reed N, Bello-Espinosa L, Flores-Sarnat L, Monteiro FP, Erasmo CB, Pinto E Vairo F, Morava E, Barkovich AJ, Gonzalez-Heydrich J, Brownstein CA, McCarroll SA, Walsh CA.
Proc Natl Acad Sci U S A. 2021 Jun 22;118(25):e2023333118. doi: 10.1073/pnas.2023333118. PMID: 34161264; PMCID: PMC8237684.
2021 BioRxiv
Ultraspecific somatic SNV and indel detection in single neurons using primary template-directed amplification
Luquette LJ, Miller MB, Zhou Z, Bohrson CL, Galor A, Lodato MA, Gawad G, West J, Walsh CA, Park PJ.
bioRxiv 2021.04.30.442032; doi: https://doi.org/10.1101/2021.04.30.442032
2021 Nat Neurosci
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing.
Rodin RE, Dou Y, Kwon M, Sherman MA, D’Gama AM, Doan RN, Rento LM, Girskis KM, Bohrson CL, Kim SN, Nadig A, Luquette LJ, Gulhan DC, Park PJ, Walsh CA.
Nat Neurosci. 2021 Feb; 24(2): 176-85. Epub 2021/01/13. doi: 10.1038/s41593-020-00765-6.
PubMed ID: 33432195; PubMed Central ID: PMC7983596
2021 Nat Neurosci
Large mosaic copy number variations confer autism risk.
Sherman MA, Rodin RE, Genovese G, Dias C, Barton AR, Mukamel RE, Berger B, Park PJ, Walsh CA, Loh PR.
Nat Neurosci. 2021 Feb; 24(2): 197-203. Epub 2021/01/13. doi: 10.1038/s41593-020-00766-5.
PubMed ID: 33432194; PubMed Central ID: PMC7854495
2021 GeneReviews
FLNA Deficiency.
Chen MH, Walsh CA.
In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 2021.
PubMed ID: 20301392
2021 bioRxiv
Whole-genome analysis of de novo and polymorphic retrotransposon insertions in Autism Spectrum Disorder.
Borges-Monroy R, Chu C, Dias C, Choi J, Lee S, Gao Y, Shin T, Park PJ, Walsh CA, Lee EA.
bioRxiv. 2021: 2021.01.29.428895. doi: 10.1101/2021.01.29.428895.
2021 Child Neurology (Second Edition)
Peter Richard Huttenlocher.
Walsh C.
In: Ashwal S, editor. Child Neurology (Second Edition): Academic Press; 2021. p. 772-4. doi: https://doi.org/10.1016/B978-0-12-821635-4.00145-4.
2020 Sci Rep
The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets.
Murayama AY, Kuwako KI, Okahara J, Bae BI, Okuno M, Mashiko H, Shimogori T, Walsh CA, Sasaki E, Okano H.
Sci Rep. 2020 Dec 9; 10(1): 21516. Epub 2020/12/11. doi: 10.1038/s41598-020-78608-4.
PubMed ID: 33299078; PubMed Central ID: PMC7726139
2020 Ann Neurol
Polymicrogyria is Associated With Pathogenic Variants in PTEN.
Shao DD, Achkar CM, Lai A, Srivastava S, Doan RN, Rodan LH, Chen AY, Poduri A, Yang E, Walsh CA.
Ann Neurol. 2020 Dec; 88(6): 1153-64. Epub 2020/09/23. doi: 10.1002/ana.25904.
PubMed ID: 32959437; PubMed Central ID: PMC7877488
2020 Sci Rep
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
Schmitz-Abe K, Sanchez-Schmitz G, Doan RN, Hill RS, Chahrour MH, Mehta BK, Servattalab S, Ataman B, Lam AN, Morrow EM, Greenberg ME, Yu TW, Walsh CA, Markianos K.
Sci Rep. 2020 Aug 20; 10(1): 14045. Epub 2020/08/21. doi: 10.1038/s41598-020-70656-0.
PubMed ID: 32820185; PubMed Central ID: PMC7441318
2020 Nature
APP gene copy number changes reflect exogenous contamination.
Kim J, Zhao B, Huang AY, Miller MB, Lodato MA, Walsh CA, Lee EA.
Nature. 2020 Aug; 584(7821): E20-e8. Epub 2020/08/21. doi: 10.1038/s41586-020-2522-3.
PubMed ID: 32814883; PubMed Central ID: PMC7704338
2020 Proc Natl Acad Sci U S A
Profile of Christopher A. Walsh.
Ravindran S.
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 13861-3. Epub 2020/06/17. doi: 10.1073/pnas.2009635117.
PubMed ID: 32541046; PubMed Central ID: PMC7321989
2020 Proc Natl Acad Sci U S A
Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain.
Huang AY, Li P, Rodin RE, Kim SN, Dou Y, Kenny CJ, Akula SK, Hodge RD, Bakken TE, Miller JA, Lein ES, Park PJ, Lee EA, Walsh CA.
Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 13886-95. Epub 2020/06/12. doi: 10.1073/pnas.2006163117.
PubMed ID: 32522880; PubMed Central ID: PMC7322034
2020 Annu Rev Genomics Hum Genet
Recent Advances in Understanding the Genetic Architecture of Autism.
Dias CM, Walsh CA.
Annu Rev Genomics Hum Genet. 2020 Aug 31; 21: 289-304. Epub 2020/05/13. doi: 10.1146/annurev-genom-121219-082309.
PubMed ID: 32396753
2020 Clin Genet
PDCD6IP, encoding a regulator of the ESCRT complex, is mutated in microcephaly.
Khan A, Alaamery M, Massadeh S, Obaid A, Kashgari AA, Walsh CA, Eyaid W.
Clin Genet. 2020 Jul; 98(1): 80-5. Epub 2020/04/15. doi: 10.1111/cge.13756.
PubMed ID: 32286682; PubMed Central ID: PMC8061709
2020 Genet Med
Regulation of human cerebral cortical development by EXOC7 and EXOC8, components of the exocyst complex, and roles in neural progenitor cell proliferation and survival.
Coulter ME, Musaev D, DeGennaro EM, Zhang X, Henke K, James KN, Smith RS, Hill RS, Partlow JN, Muna A-S, Kamumbu AS, Hatem N, Barkovich AJ, Aziza J, Chassaing N, Zaki MS, Sultan T, Burglen L, Rajab A, Al-Gazali L, Mochida GH, Harris MP, Gleeson JG, Walsh CA.
Genet Med. 2020 Jun; 22(6): 1040-50. Epub 2020/02/28. doi: 10.1038/s41436-020-0758-9.
PubMed ID: 32103185; PubMed Central ID: PMC7272323
2020 Neuron
Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5.
Kodani A, Kenny C, Lai A, Gonzalez DM, Stronge E, Sejourne GM, Isacco L, Partlow JN, O’Donnell A, McWalter K, Byrne AB, Barkovich AJ, Yang E, Hill RS, Gawlinski P, Wiszniewski W, Cohen JS, Fatemi SA, Baranano KW, Sahin M, Vossler DG, Yuskaitis CJ, Walsh CA.
Neuron. 2020 Apr 22; 106(2): 246-55.e6. Epub 2020/02/26. doi: 10.1016/j.neuron.2020.01.030.
PubMed ID: 32097629; PubMed Central ID: PMC7255387
2020 Trends Neurosci
Ion Channel Functions in Early Brain Development.
Smith RS, Walsh CA.
Trends Neurosci. 2020 Feb; 43(2): 103-14. Epub 2020/01/22. doi: 10.1016/j.tins.2019.12.004.
PubMed ID: 31959360; PubMed Central ID: PMC7092371
2020 Nat Biotechnol
Accurate detection of mosaic variants in sequencing data without matched controls.
Dou Y, Kwon M, Rodin RE, Cortés-Ciriano I, Doan R, Luquette LJ, Galor A, Bohrson C, Walsh CA, Park PJ.
Nat Biotechnol. 2020 Mar; 38(3): 314-9. Epub 2020/01/08. doi: 10.1038/s41587-019-0368-8.
PubMed ID: 31907404; PubMed Central ID: PMC7065972
2020 Annals of Neurology
In Memoriam: Frederick Andermann, MD.
Schomer DL, Martin JB, Walsh CA, Andermann ML.
Annals of Neurology. 2020 Jan; 87(1): 1-3. Epub 2021/11/19. doi: https://doi.org/10.1002/ana.25627.
PubMed ID: 31749153
2020 Neurodevelopmental Disorders
Chapter 12 – Focal cortical dysplasia.
D’Gama AM, Walsh CA.
In: Rubenstein J, Rakic P, Chen B, Kwan KY, editors. Neurodevelopmental Disorders: Academic Press; 2020. p. 285-307. doi: https://doi.org/10.1016/B978-0-12-814409-1.00012-4.
2019 Am J Hum Genet
Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.
Dias CM, Punetha J, Zheng C, Mazaheri N, Rad A, Efthymiou S, Petersen A, Dehghani M, Pehlivan D, Partlow JN, Posey JE, Salpietro V, Gezdirici A, Malamiri RA, Al Menabawy NM, Selim LA, Vahidi Mehrjardi MY, Banu S, Polla DL, Yang E, Rezazadeh Varaghchi J, Mitani T, van Beusekom E, Najafi M, Sedaghat A, Keller-Ramey J, Durham L, Coban-Akdemir Z, Karaca E, Orlova V, Schaeken LLM, Sherafat A, Jhangiani SN, Stanley V, Shariati G, Galehdari H, Gleeson JG, Walsh CA, Lupski JR, Seiradake E, Houlden H, van Bokhoven H, Maroofian R.
Am J Hum Genet. 2019 Nov 7; 105(5): 1048-56. Epub 2019/11/02. doi: 10.1016/j.ajhg.2019.09.025.
PubMed ID: 31668703; PubMed Central ID: PMC6849109
2019 Am J Med Genet A
Duplication 2p16 is associated with perisylvian polymicrogyria.
Amrom D, Poduri A, Goldman JS, Dan B, Deconinck N, Pichon B, Nadaf J, Andermann F, Andermann E, Walsh CA, Dobyns WB.
Am J Med Genet A. 2019 Dec; 179(12): 2343-56. Epub 2019/10/30. doi: 10.1002/ajmg.a.61342.
PubMed ID: 31660690
2019 Hum Mol Genet
Genome aging: somatic mutation in the brain links age-related decline with disease and nominates pathogenic mechanisms.
Lodato MA, Walsh CA.
Hum Mol Genet. 2019 Oct 15; 28(R2): R197-r206. Epub 2019/10/04. doi: 10.1093/hmg/ddz191.
PubMed ID: 31578549; PubMed Central ID: PMC6872434
2019 Nat Genet
Recessive gene disruptions in autism spectrum disorder.
Doan RN, Lim ET, De Rubeis S, Betancur C, Cutler DJ, Chiocchetti AG, Overman LM, Soucy A, Goetze S, Freitag CM, Daly MJ, Walsh CA, Buxbaum JD, Yu TW.
Nat Genet. 2019 Jul; 51(7): 1092-8. Epub 2019/06/19. doi: 10.1038/s41588-019-0433-8.
PubMed ID: 31209396; PubMed Central ID: PMC6629034
2019 J Cell Biol
SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL.
Kodani A, Moyer T, Chen A, Holland A, Walsh CA, Reiter JF.
J Cell Biol. 2019 Jul 1; 218(7): 2185-97. Epub 2019/06/15. doi: 10.1083/jcb.201803041.
PubMed ID: 31197030; PubMed Central ID: PMC6605807
2019 Am J Hum Genet
Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features.
Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE.
Am J Hum Genet. 2019 Jun 6; 104(6): 1073-87. Epub 2019/05/14. doi: 10.1016/j.ajhg.2019.04.002.
PubMed ID: 31079899; PubMed Central ID: PMC6556908
2019 Nat Genet
Linked-read analysis identifies mutations in single-cell DNA-sequencing data.
Bohrson CL, Barton AR, Lodato MA, Rodin RE, Luquette LJ, Viswanadham VV, Gulhan DC, Cortés-Ciriano I, Sherman MA, Kwon M, Coulter ME, Galor A, Walsh CA, Park PJ.
Nat Genet. 2019 Apr; 51(4): 749-54. Epub 2019/03/20. doi: 10.1038/s41588-019-0366-2.
PubMed ID: 30886424; PubMed Central ID: PMC6900933
2019 Genet Med
Genomic and phenotypic delineation of congenital microcephaly.
Shaheen R, Maddirevula S, Ewida N, Alsahli S, Abdel-Salam GMH, Zaki MS, Tala SA, Alhashem A, Softah A, Al-Owain M, Alazami AM, Abadel B, Patel N, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Hamad M, Tabarki B, Alwadei AH, Alhazzani F, Bashiri FA, Kentab A, Şahintürk S, Sherr E, Fregeau B, Sogati S, Alshahwan SAM, Alkhalifi S, Alhumaidi Z, Temtamy S, Aglan M, Otaify G, Girisha KM, Tulbah M, Seidahmed MZ, Salih MA, Abouelhoda M, Momin AA, Saffar MA, Partlow JN, Arold ST, Faqeih E, Walsh C, Alkuraya FS.
Genet Med. 2019 Mar; 21(3): 545-52. Epub 2018/09/15. doi: 10.1038/s41436-018-0140-3.
PubMed ID: 30214071; PubMed Central ID: PMC6986385
2019 Eur J Neurosci
Rainer W. Guillery and the genetic analysis of brain development.
Walsh CA.
Eur J Neurosci. 2019 Apr; 49(7): 900-8. Epub 2018/08/29. doi: 10.1111/ejn.14135.
PubMed ID: 30152010; PubMed Central ID: PMC6393213
2019 The Neocortex
Evolution and Ontogenetic Development of Cortical Structures.
Silver DL, Rakic P, Grove EA, Haydar TF, Hensch TK, Huttner WB, Molnár Z, Rubenstein JL, Sestan N, Stryker MP, Sur M, Tosches MA, Walsh CA.
In: Singer W, Sejnowski TJ, Rakic P, editors. The Neocortex. Strüngmann Forum Reports. Cambridge, MA: MIT Press; 2019. p. 61-93.
2019 The Neocortex
What Happens When It Goes Wrong?
Coulter ME, Walsh CA.
In: Singer W, Sejnowski TJ, Rakic P, editors. The Neocortex. Strüngmann Forum Reports. Cambridge, MA: MIT Press; 2019. p. 45-58.
2018 Am J Med Genet B Neuropsychiatr Genet
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic features.
Khalil R, Kenny C, Hill RS, Mochida GH, Nasir R, Partlow JN, Barry BJ, Al-Saffar M, Egan C, Stevens CR, Gabriel SB, Barkovich AJ, Ellison JW, Al-Gazali L, Walsh CA, Chahrour MH.
Am J Med Genet B Neuropsychiatr Genet. 2018 Dec; 177(8): 736-45. Epub 2018/11/14. doi: 10.1002/ajmg.b.32688.
PubMed ID: 30421579; PubMed Central ID: PMC6261799
2018 Nat Neurosci
Somatic mosaicism and neurodevelopmental disease.
D’Gama AM, Walsh CA.
Nat Neurosci. 2018 Nov; 21(11): 1504-14. Epub 2018/10/24. doi: 10.1038/s41593-018-0257-3.
PubMed ID: 30349109
2018 Pediatr Neurol
Somatic Mutation in Pediatric Neurological Diseases.
Rodin RE, Walsh CA.
Pediatr Neurol. 2018 Oct; 87: 20-2. Epub 2018/09/27. doi: 10.1016/j.pediatrneurol.2018.08.008.
PubMed ID: 30249355; PubMed Central ID: PMC6289746
2018 Neuron
Sodium Channel SCN3A (Na(V)1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development.
Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, Hill RS, Shin T, Chen AY, Doan RN, Anttonen AK, Ignatius J, Medne L, Bönnemann CG, Hecht JL, Salonen O, Barkovich AJ, Poduri A, Wilke M, de Wit MCY, Mancini GMS, Sztriha L, Im K, Amrom D, Andermann E, Paetau R, Lehesjoki AE, Walsh CA, Lehtinen MK.
Neuron. 2018 Sep 5; 99(5): 905-13.e7. Epub 2018/08/28. doi: 10.1016/j.neuron.2018.07.052.
PubMed ID: 30146301; PubMed Central ID: PMC6226006
2018 Cell Rep
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles.
Coulter ME, Dorobantu CM, Lodewijk GA, Delalande F, Cianferani S, Ganesh VS, Smith RS, Lim ET, Xu CS, Pang S, Wong ET, Lidov HGW, Calicchio ML, Yang E, Gonzalez DM, Schlaeger TM, Mochida GH, Hess H, Lee WA, Lehtinen MK, Kirchhausen T, Haussler D, Jacobs FMJ, Gaudin R, Walsh CA.
Cell Rep. 2018 Jul 24; 24(4): 973-86.e8. Epub 2018/07/26. doi: 10.1016/j.celrep.2018.06.100.
PubMed ID: 30044992; PubMed Central ID: PMC6178983
2018 Annu Rev Neurosci
Evolutionary Changes in Transcriptional Regulation: Insights into Human Behavior and Neurological Conditions.
Doan RN, Shin T, Walsh CA.
Annu Rev Neurosci. 2018 Jul 8; 41: 185-206. Epub 2018/07/10. doi: 10.1146/annurev-neuro-080317-062104.
PubMed ID: 29986162
2018 Dev Cell
Making a Notch in the Evolution of the Human Cortex.
Bizzotto S, Walsh CA.
Dev Cell. 2018 Jun 4; 45(5): 548-50. Epub 2018/06/06. doi: 10.1016/j.devcel.2018.05.015.
PubMed ID: 29870717
2018 Annu Rev Genomics Hum Genet
The Genetics of Primary Microcephaly.
Jayaraman D, Bae BI, Walsh CA.
Annu Rev Genomics Hum Genet. 2018 Aug 31; 19: 177-200. Epub 2018/05/26. doi: 10.1146/annurev-genom-083117-021441.
PubMed ID: 29799801
2018 Neuron
The Epigenetic State of PRDM16-Regulated Enhancers in Radial Glia Controls Cortical Neuron Position.
Baizabal JM, Mistry M, García MT, Gómez N, Olukoya O, Tran D, Johnson MB, Walsh CA, Harwell CC.
Neuron. 2018 Jun 6; 98(5): 945-62.e8. Epub 2018/05/22. doi: 10.1016/j.neuron.2018.04.033.
PubMed ID: 29779941; PubMed Central ID: PMC6667181
2018 PLoS Genet
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
Heinzen EL, O’Neill AC, Zhu X, Allen AS, Bahlo M, Chelly J, Chen MH, Dobyns WB, Freytag S, Guerrini R, Leventer RJ, Poduri A, Robertson SP, Walsh CA, Zhang M.
PLoS Genet. 2018 May; 14(5): e1007281. Epub 2018/05/09. doi: 10.1371/journal.pgen.1007281.
PubMed ID: 29738522; PubMed Central ID: PMC5965900 following competing interests: Stephen Petrou holds equity and is a scientific founder of Praxis Precision Medicines and RogCon. David Goldstein is a founder and holds equity in Pairnomix and Praxis Precision Medicines, and has research funding from Janssen, Gilead, Biogen, AstraZeneca, and UCB. Erin Heinzen has research funding from AstraZeneca.
2018 Clin Genet
Expanding the clinical spectrum of biallelic ZNF335 variants.
Stouffs K, Stergachis AB, Vanderhasselt T, Dica A, Janssens S, Vandervore L, Gheldof A, Bodamer O, Keymolen K, Seneca S, Liebaers I, Jayaraman D, Hill HE, Partlow JN, Walsh CA, Jansen AC.
Clin Genet. 2018 Aug; 94(2): 246-51. Epub 2018/04/14. doi: 10.1111/cge.13260.
PubMed ID: 29652087; PubMed Central ID: PMC6361164
2018 Nature
Aspm knockout ferret reveals an evolutionary mechanism governing cerebral cortical size.
Johnson MB, Sun X, Kodani A, Borges-Monroy R, Girskis KM, Ryu SC, Wang PP, Patel K, Gonzalez DM, Woo YM, Yan Z, Liang B, Smith RS, Chatterjee M, Coman D, Papademetris X, Staib LH, Hyder F, Mandeville JB, Grant PE, Im K, Kwak H, Engelhardt JF, Walsh CA, Bae BI.
Nature. 2018 Apr; 556(7701): 370-5. Epub 2018/04/13. doi: 10.1038/s41586-018-0035-0.
PubMed ID: 29643508; PubMed Central ID: PMC6095461
2018 Am J Med Genet A
Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.
Chen MH, Choudhury S, Hirata M, Khalsa S, Chang B, Walsh CA.
Am J Med Genet A. 2018 Feb; 176(2): 337-50. Epub 2018/01/16. doi: 10.1002/ajmg.a.38580.
PubMed ID: 29334594; PubMed Central ID: PMC7534149
2018 Science
Aging and neurodegeneration are associated with increased mutations in single human neurons.
Lodato MA, Rodin RE, Bohrson CL, Coulter ME, Barton AR, Kwon M, Sherman MA, Vitzthum CM, Luquette LJ, Yandava CN, Yang P, Chittenden TW, Hatem NE, Ryu SC, Woodworth MB, Park PJ, Walsh CA.
Science. 2018 Feb 2; 359(6375): 555-9. Epub 2017/12/09. doi: 10.1126/science.aao4426.
PubMed ID: 29217584; PubMed Central ID: PMC5831169
2018 Nucleic Acids Res
PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation.
Sherman MA, Barton AR, Lodato MA, Vitzthum C, Coulter ME, Walsh CA, Park PJ.
Nucleic Acids Res. 2018 Feb 28; 46(4): e20. Epub 2017/12/01. doi: 10.1093/nar/gkx1195.
PubMed ID: 29186545; PubMed Central ID: PMC5829578
2018 Hum Mutat
DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome.
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ.
Hum Mutat. 2018 Jan; 39(1): 23-39. Epub 2017/10/27. doi: 10.1002/humu.23361.
PubMed ID: 29068161; PubMed Central ID: PMC5722687
2018 Neuron
Christopher A. Walsh: Question and Answer.
Walsh CA.
Neuron. 2018 Nov 7; 100(3): 530-3. Epub 2018/11/07. doi: https://doi.org/10.1016/j.neuron.2018.10.043.
2017 Cell Rep
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.
D’Gama AM, Woodworth MB, Hossain AA, Bizzotto S, Hatem NE, LaCoursiere CM, Najm I, Ying Z, Yang E, Barkovich AJ, Kwiatkowski DJ, Vinters HV, Madsen JR, Mathern GW, Blümcke I, Poduri A, Walsh CA.
Cell Rep. 2017 Dec 26; 21(13): 3754-66. Epub 2017/12/28. doi: 10.1016/j.celrep.2017.11.106.
PubMed ID: 29281825; PubMed Central ID: PMC5752134
2017 Nat Neurosci
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
Lim ET, Uddin M, De Rubeis S, Chan Y, Kamumbu AS, Zhang X, D’Gama AM, Kim SN, Hill RS, Goldberg AP, Poultney C, Minshew NJ, Kushima I, Aleksic B, Ozaki N, Parellada M, Arango C, Penzol MJ, Carracedo A, Kolevzon A, Hultman CM, Weiss LA, Fromer M, Chiocchetti AG, Freitag CM, Church GM, Scherer SW, Buxbaum JD, Walsh CA.
Nat Neurosci. 2017 Sep; 20(9): 1217-24. Epub 2017/07/18. doi: 10.1038/nn.4598.
PubMed ID: 28714951; PubMed Central ID: PMC5672813
2017 Genome Res
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Evrony GD, Cordero DR, Shen J, Partlow JN, Yu TW, Rodin RE, Hill RS, Coulter ME, Lam AN, Jayaraman D, Gerrelli D, Diaz DG, Santos C, Morrison V, Galli A, Tschulena U, Wiemann S, Martel MJ, Spooner B, Ryu SC, Elhosary PC, Richardson JM, Tierney D, Robinson CA, Chibbar R, Diudea D, Folkerth R, Wiebe S, Barkovich AJ, Mochida GH, Irvine J, Lemire EG, Blakley P, Walsh CA.
Genome Res. 2017 Aug; 27(8): 1323-35. Epub 2017/06/21. doi: 10.1101/gr.219899.116.
PubMed ID: 28630177; PubMed Central ID: PMC5538549
2017 Eur J Med Genet
Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.
Lakhani S, Doan R, Almureikhi M, Partlow JN, Al Saffar M, Elsaid MF, Alaaraj N, James Barkovich A, Walsh CA, Ben-Omran T.
Eur J Med Genet. 2017 May; 60(5): 245-9. Epub 2017/03/04. doi: 10.1016/j.ejmg.2017.02.006.
PubMed ID: 28254648; PubMed Central ID: PMC5569911
2017 Nat Genet
Biallelic mutations in human DCC cause developmental split-brain syndrome.
Jamuar SS, Schmitz-Abe K, D’Gama AM, Drottar M, Chan WM, Peeva M, Servattalab S, Lam AN, Delgado MR, Clegg NJ, Zayed ZA, Dogar MA, Alorainy IA, Jamea AA, Abu-Amero K, Griebel M, Ward W, Lein ES, Markianos K, Barkovich AJ, Robson CD, Grant PE, Bosley TM, Engle EC, Walsh CA, Yu TW.
Nat Genet. 2017 Apr; 49(4): 606-12. Epub 2017/03/03. doi: 10.1038/ng.3804.
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2017 Nat Rev Genet
Building a lineage from single cells: genetic techniques for cell lineage tracking.
Woodworth MB, Girskis KM, Walsh CA.
Nat Rev Genet. 2017 Apr; 18(4): 230-44. Epub 2017/01/24. doi: 10.1038/nrg.2016.159.
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2017 Curr Opin Neurobiol
Cerebral cortical neuron diversity and development at single-cell resolution.
Johnson MB, Walsh CA.
Curr Opin Neurobiol. 2017 Feb; 42: 9-16. Epub 2016/11/27. doi: 10.1016/j.conb.2016.11.001.
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2017 Brief Bioinform
Rare variant association test in family-based sequencing studies.
Wang X, Zhang Z, Morris N, Cai T, Lee S, Wang C, Yu TW, Walsh CA, Lin X.
Brief Bioinform. 2017 Nov 1; 18(6): 954-61. Epub 2016/09/30. doi: 10.1093/bib/bbw083.
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2017 Cereb Cortex
Cc2d1a Loss of Function Disrupts Functional and Morphological Development in Forebrain Neurons Leading to Cognitive and Social Deficits.
Oaks AW, Zamarbide M, Tambunan DE, Santini E, Di Costanzo S, Pond HL, Johnson MW, Lin J, Gonzalez DM, Boehler JF, Wu GK, Klann E, Walsh CA, Manzini MC.
Cereb Cortex. 2017 Feb 1; 27(2): 1670-85. Epub 2016/01/31. doi: 10.1093/cercor/bhw009.
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2016 Neuron
Microcephaly Proteins Wdr62 and Aspm Define a Mother Centriole Complex Regulating Centriole Biogenesis, Apical Complex, and Cell Fate.
Jayaraman D, Kodani A, Gonzalez DM, Mancias JD, Mochida GH, Vagnoni C, Johnson J, Krogan N, Harper JW, Reiter JF, Yu TW, Bae BI, Walsh CA.
Neuron. 2016 Nov 23; 92(4): 813-28. Epub 2016/12/16. doi: 10.1016/j.neuron.2016.09.056.
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2016 Nature
Evolution of Osteocrin as an activity-regulated factor in the primate brain.
Ataman B, Boulting GL, Harmin DA, Yang MG, Baker-Salisbury M, Yap EL, Malik AN, Mei K, Rubin AA, Spiegel I, Durresi E, Sharma N, Hu LS, Pletikos M, Griffith EC, Partlow JN, Stevens CR, Adli M, Chahrour M, Sestan N, Walsh CA, Berezovskii VK, Livingstone MS, Greenberg ME.
Nature. 2016 Nov 10; 539(7628): 242-7. Epub 2016/11/11. doi: 10.1038/nature20111.
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2016 Cell
Mutations in Human Accelerated Regions Disrupt Cognition and Social Behavior.
Doan RN, Bae BI, Cubelos B, Chang C, Hossain AA, Al-Saad S, Mukaddes NM, Oner O, Al-Saffar M, Balkhy S, Gascon GG, Nieto M, Walsh CA.
Cell. 2016 Oct 6; 167(2): 341-54.e12. Epub 2016/09/27. doi: 10.1016/j.cell.2016.08.071.
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2016 Cell
Cell-Type-Specific Alternative Splicing Governs Cell Fate in the Developing Cerebral Cortex.
Zhang X, Chen MH, Wu X, Kodani A, Fan J, Doan R, Ozawa M, Ma J, Yoshida N, Reiter JF, Black DL, Kharchenko PV, Sharp PA, Walsh CA.
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2016 Elife
Resolving rates of mutation in the brain using single-neuron genomics.
Evrony GD, Lee E, Park PJ, Walsh CA.
Elife. 2016 Feb 22; 5. Epub 2016/02/24. doi: 10.7554/eLife.12966.
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2016 AJNR Am J Neuroradiol
Disorders of Microtubule Function in Neurons: Imaging Correlates.
Mutch CA, Poduri A, Sahin M, Barry B, Walsh CA, Barkovich AJ.
AJNR Am J Neuroradiol. 2016 Mar; 37(3): 528-35. Epub 2015/11/14. doi: 10.3174/ajnr.A4552.
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2016 Am J Med Genet A
Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
Al-Maawali A, Barry BJ, Rajab A, El-Quessny M, Seman A, Coury SN, Barkovich AJ, Yang E, Walsh CA, Mochida GH, Stoler JM.
Am J Med Genet A. 2016 Feb; 170a(2): 435-40. Epub 2015/10/16. doi: 10.1002/ajmg.a.37422.
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2016 Genomics, Circuits, and Pathways in Clinical Neuropsychiatry
Chapter 12 – Somatic Mosaicism and Neurological Diseases.
Jamuar SS, D’Gama AM, Walsh CA.
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2015 Neuron
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
D’Gama AM, Pochareddy S, Li M, Jamuar SS, Reiff RE, Lam AN, Sestan N, Walsh CA.
Neuron. 2015 Dec 2; 88(5): 910-7. Epub 2015/12/08. doi: 10.1016/j.neuron.2015.11.009.
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2015 Science
Somatic mutation in single human neurons tracks developmental and transcriptional history.
Lodato MA, Woodworth MB, Lee S, Evrony GD, Mehta BK, Karger A, Lee S, Chittenden TW, D’Gama AM, Cai X, Luquette LJ, Lee E, Park PJ, Walsh CA.
Science. 2015 Oct 2; 350(6256): 94-8. Epub 2015/10/03. doi: 10.1126/science.aab1785.
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2015 Neuron
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Sanders SJ, He X, Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S, Goldberg AP, Jinlu C, Keaney JF, 3rd, Klei L, Mandell JD, Moreno-De-Luca D, Poultney CS, Robinson EB, Smith L, Solli-Nowlan T, Su MY, Teran NA, Walker MF, Werling DM, Beaudet AL, Cantor RM, Fombonne E, Geschwind DH, Grice DE, Lord C, Lowe JK, Mane SM, Martin DM, Morrow EM, Talkowski ME, Sutcliffe JS, Walsh CA, Yu TW, Ledbetter DH, Martin CL, Cook EH, Buxbaum JD, Daly MJ, Devlin B, Roeder K, State MW.
Neuron. 2015 Sep 23; 87(6): 1215-33. Epub 2015/09/25. doi: 10.1016/j.neuron.2015.09.016.
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2015 Elife
Centriolar satellites assemble centrosomal microcephaly proteins to recruit CDK2 and promote centriole duplication.
Kodani A, Yu TW, Johnson JR, Jayaraman D, Johnson TL, Al-Gazali L, Sztriha L, Partlow JN, Kim H, Krup AL, Dammermann A, Krogan NJ, Walsh CA, Reiter JF.
Elife. 2015 Aug 22; 4. Epub 2015/08/25. doi: 10.7554/eLife.07519.
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2015 Am J Med Genet A
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
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Am J Med Genet A. 2015 Nov; 167a(11): 2808-16. Epub 2015/08/05. doi: 10.1002/ajmg.a.37268.
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2015 Pediatr Clin North Am
Genomic variants and variations in malformations of cortical development.
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Pediatr Clin North Am. 2015 Jun; 62(3): 571-85. Epub 2015/05/30. doi: 10.1016/j.pcl.2015.03.002.
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2015 Neurology
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH.
Neurology. 2015 Apr 28; 84(17): 1745-50. Epub 2015/04/03. doi: 10.1212/wnl.0000000000001523.
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2015 Genes Dev
Control of a neuronal morphology program by an RNA-binding zinc finger protein, Unkempt.
Murn J, Zarnack K, Yang YJ, Durak O, Murphy EA, Cheloufi S, Gonzalez DM, Teplova M, Curk T, Zuber J, Patel DJ, Ule J, Luscombe NM, Tsai LH, Walsh CA, Shi Y.
Genes Dev. 2015 Mar 1; 29(5): 501-12. Epub 2015/03/05. doi: 10.1101/gad.258483.115.
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2015 Nat Neurosci
Single-cell analysis reveals transcriptional heterogeneity of neural progenitors in human cortex.
Johnson MB, Wang PP, Atabay KD, Murphy EA, Doan RN, Hecht JL, Walsh CA.
Nat Neurosci. 2015 May; 18(5): 637-46. Epub 2015/03/04. doi: 10.1038/nn.3980.
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2015 Dev Cell
Genetic changes shaping the human brain.
Bae BI, Jayaraman D, Walsh CA.
Dev Cell. 2015 Feb 23; 32(4): 423-34. Epub 2015/02/25. doi: 10.1016/j.devcel.2015.01.035.
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2015 Ann Neurol
Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.
D’Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ, Vinters HV, Barkovich AJ, Shendure J, Mathern GW, Walsh CA, Poduri A.
Ann Neurol. 2015 Apr; 77(4): 720-5. Epub 2015/01/21. doi: 10.1002/ana.24357.
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2015 Neuron
Cell lineage analysis in human brain using endogenous retroelements.
Evrony GD, Lee E, Mehta BK, Benjamini Y, Johnson RM, Cai X, Yang L, Haseley P, Lehmann HS, Park PJ, Walsh CA.
Neuron. 2015 Jan 7; 85(1): 49-59. Epub 2015/01/09. doi: 10.1016/j.neuron.2014.12.028.
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2014 Neuron
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu WF, Pomp O, Ben-Omran T, Kodani A, Henke K, Mochida GH, Yu TW, Woodworth MB, Bonnard C, Raj GS, Tan TT, Hamamy H, Masri A, Shboul M, Al Saffar M, Partlow JN, Al-Dosari M, Alazami A, Alowain M, Alkuraya FS, Reiter JF, Harris MP, Reversade B, Walsh CA.
Neuron. 2014 Dec 17; 84(6): 1240-57. Epub 2014/12/19. doi: 10.1016/j.neuron.2014.12.017.
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2014 Annu Rev Genomics Hum Genet
The diverse genetic landscape of neurodevelopmental disorders.
Hu WF, Chahrour MH, Walsh CA.
Annu Rev Genomics Hum Genet. 2014; 15: 195-213. Epub 2014/09/04. doi: 10.1146/annurev-genom-090413-025600.
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2014 Cell Rep
Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain.
Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA.
Cell Rep. 2014 Sep 11; 8(5): 1280-9. Epub 2014/08/28. doi: 10.1016/j.celrep.2014.07.043.
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2014 N Engl J Med
Somatic mutations in cerebral cortical malformations.
Jamuar SS, Lam AT, Kircher M, D’Gama AM, Wang J, Barry BJ, Zhang X, Hill RS, Partlow JN, Rozzo A, Servattalab S, Mehta BK, Topcu M, Amrom D, Andermann E, Dan B, Parrini E, Guerrini R, Scheffer IE, Berkovic SF, Leventer RJ, Shen Y, Wu BL, Barkovich AJ, Sahin M, Chang BS, Bamshad M, Nickerson DA, Shendure J, Poduri A, Yu TW, Walsh CA.
N Engl J Med. 2014 Aug 21; 371(8): 733-43. Epub 2014/08/21. doi: 10.1056/NEJMoa1314432.
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2014 Cell Rep
CC2D1A regulates human intellectual and social function as well as NF-κB signaling homeostasis.
Manzini MC, Xiong L, Shaheen R, Tambunan DE, Di Costanzo S, Mitisalis V, Tischfield DJ, Cinquino A, Ghaziuddin M, Christian M, Jiang Q, Laurent S, Nanjiani ZA, Rasheed S, Hill RS, Lizarraga SB, Gleason D, Sabbagh D, Salih MA, Alkuraya FS, Walsh CA.
Cell Rep. 2014 Aug 7; 8(3): 647-55. Epub 2014/07/30. doi: 10.1016/j.celrep.2014.06.039.
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2014 Hum Mol Genet
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC.
Hum Mol Genet. 2014 Nov 1; 23(21): 5781-92. Epub 2014/06/14. doi: 10.1093/hmg/ddu296.
PubMed ID: 24925318; PubMed Central ID: PMC4189906
2014 Am J Hum Genet
Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.
Zhang X, Ling J, Barcia G, Jing L, Wu J, Barry BJ, Mochida GH, Hill RS, Weimer JM, Stein Q, Poduri A, Partlow JN, Ville D, Dulac O, Yu TW, Lam AT, Servattalab S, Rodriguez J, Boddaert N, Munnich A, Colleaux L, Zon LI, Söll D, Walsh CA, Nabbout R.
Am J Hum Genet. 2014 Apr 3; 94(4): 547-58. Epub 2014/03/25. doi: 10.1016/j.ajhg.2014.03.003.
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2014 Science
Evolutionarily dynamic alternative splicing of GPR56 regulates regional cerebral cortical patterning.
Bae BI, Tietjen I, Atabay KD, Evrony GD, Johnson MB, Asare E, Wang PP, Murayama AY, Im K, Lisgo SN, Overman L, Šestan N, Chang BS, Barkovich AJ, Grant PE, Topçu M, Politsky J, Okano H, Piao X, Walsh CA.
Science. 2014 Feb 14; 343(6172): 764-8. Epub 2014/02/18. doi: 10.1126/science.1244392.
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2014 Hum Mol Genet
METTL23, a transcriptional partner of GABPA, is essential for human cognition.
Reiff RE, Ali BR, Baron B, Yu TW, Ben-Salem S, Coulter ME, Schubert CR, Hill RS, Akawi NA, Al-Younes B, Kaya N, Evrony GD, Al-Saffar M, Felie JM, Partlow JN, Sunu CM, Schembri-Wismayer P, Alkuraya FS, Meyer BF, Walsh CA, Al-Gazali L, Mochida GH.
Hum Mol Genet. 2014 Jul 1; 23(13): 3456-66. Epub 2014/02/07. doi: 10.1093/hmg/ddu054.
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2014 Ann Neurol
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Poduri A, Salih M, Walsh CA.
Ann Neurol. 2014 Feb; 75(2): 326. Epub 2013/11/19. doi: 10.1002/ana.24055.
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2014 Neuropediatrics
Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients.
Adachi Y, Mochida G, Walsh C, Barkovich J.
Neuropediatrics. 2014 Apr; 45(2): 93-101. Epub 2013/11/16. doi: 10.1055/s-0033-1360483.
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2013 Ann Neurol
SLC25A22 is a novel gene for migrating partial seizures in infancy.
Poduri A, Heinzen EL, Chitsazzadeh V, Lasorsa FM, Elhosary PC, LaCoursiere CM, Martin E, Yuskaitis CJ, Hill RS, Atabay KD, Barry B, Partlow JN, Bashiri FA, Zeidan RM, Elmalik SA, Kabiraj MM, Kothare S, Stödberg T, McTague A, Kurian MA, Scheffer IE, Barkovich AJ, Palmieri F, Salih MA, Walsh CA.
Ann Neurol. 2013 Dec; 74(6): 873-82. Epub 2014/03/07. doi: 10.1002/ana.23998.
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2013 Science
Neuroscience. What are mini-brains?
Bae BI, Walsh CA.
Science. 2013 Oct 11; 342(6155): 200-1. Epub 2013/10/12. doi: 10.1126/science.1245812.
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2013 Nature
Peter Huttenlocher (1931-2013).
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Nature. 2013 Oct 10; 502(7470): 172. Epub 2013/10/11. doi: 10.1038/502172a.
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2013 Febs j
G-protein coupled receptor 56 promotes myoblast fusion through serum response factor- and nuclear factor of activated T-cell-mediated signalling but is not essential for muscle development in vivo.
Wu MP, Doyle JR, Barry B, Beauvais A, Rozkalne A, Piao X, Lawlor MW, Kopin AS, Walsh CA, Gussoni E.
Febs j. 2013 Dec; 280(23): 6097-113. Epub 2013/10/10. doi: 10.1111/febs.12529.
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2013 Ann Neurol
New innovations: therapeutic opportunities for intellectual disabilities.
Picker JD, Walsh CA.
Ann Neurol. 2013 Sep; 74(3): 382-90. Epub 2013/09/17. doi: 10.1002/ana.24002.
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2013 Wiley Interdiscip Rev Dev Biol
Genetic causes of microcephaly and lessons for neuronal development.
Gilmore EC, Walsh CA.
Wiley Interdiscip Rev Dev Biol. 2013 Jul; 2(4): 461-78. Epub 2013/09/10. doi: 10.1002/wdev.89.
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2013 Science
Somatic mutation, genomic variation, and neurological disease.
Poduri A, Evrony GD, Cai X, Walsh CA.
Science. 2013 Jul 5; 341(6141): 1237758. Epub 2013/07/06. doi: 10.1126/science.1237758.
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2013 J Vis Exp
Isolation of cerebrospinal fluid from rodent embryos for use with dissected cerebral cortical explants.
Zappaterra MW, LaMantia AS, Walsh CA, Lehtinen MK.
J Vis Exp. 2013 Mar 11; (73): e50333. Epub 2013/03/26. doi: 10.3791/50333.
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2013 Am J Hum Genet
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.
Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, Stemple D, Lin YY, Muntoni F.
Am J Hum Genet. 2013 Mar 7; 92(3): 354-65. Epub 2013/03/05. doi: 10.1016/j.ajhg.2013.01.016.
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2013 Neuron
Using whole-exome sequencing to identify inherited causes of autism.
Yu TW, Chahrour MH, Coulter ME, Jiralerspong S, Okamura-Ikeda K, Ataman B, Schmitz-Abe K, Harmin DA, Adli M, Malik AN, D’Gama AM, Lim ET, Sanders SJ, Mochida GH, Partlow JN, Sunu CM, Felie JM, Rodriguez J, Nasir RH, Ware J, Joseph RM, Hill RS, Kwan BY, Al-Saffar M, Mukaddes NM, Hashmi A, Balkhy S, Gascon GG, Hisama FM, LeClair E, Poduri A, Oner O, Al-Saad S, Al-Awadi SA, Bastaki L, Ben-Omran T, Teebi AS, Al-Gazali L, Eapen V, Stevens CR, Rappaport L, Gabriel SB, Markianos K, State MW, Greenberg ME, Taniguchi H, Braverman NE, Morrow EM, Walsh CA.
Neuron. 2013 Jan 23; 77(2): 259-73. Epub 2013/01/29. doi: 10.1016/j.neuron.2012.11.002.
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2013 J Child Neurol
Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care.
Dies KA, Bodell A, Hisama FM, Guo CY, Barry B, Chang BS, Barkovich AJ, Walsh CA.
J Child Neurol. 2013 Feb; 28(2): 198-203. Epub 2012/12/26. doi: 10.1177/0883073812467850.
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2013 Hum Mutat
Delineation of the clinical, molecular and cellular aspects of novel JAM3 mutations underlying the autosomal recessive hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
Akawi NA, Canpolat FE, White SM, Quilis-Esquerra J, Morales Sanchez M, Gamundi MJ, Mochida GH, Walsh CA, Ali BR, Al-Gazali L.
Hum Mutat. 2013 Mar; 34(3): 498-505. Epub 2012/12/21. doi: 10.1002/humu.22263.
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2013 AJNR Am J Neuroradiol
Location of periventricular nodular heterotopia is related to the malformation phenotype on MRI.
González G, Vedolin L, Barry B, Poduri A, Walsh C, Barkovich AJ.
AJNR Am J Neuroradiol. 2013 Apr; 34(4): 877-83. Epub 2012/10/16. doi: 10.3174/ajnr.A3312.
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2013 Genomic and Personalized Medicine (Second Edition)
Chapter 90 – Autism Spectrum Disorders.
Yu TW, Coulter M, Chahrour M, Walsh CA.
In: Ginsburg GS, Willard HF, editors. Genomic and Personalized Medicine (Second Edition): Academic Press; 2013. p. 1067-74. doi: https://doi.org/10.1016/B978-0-12-382227-7.00090-2.
2013 Emery and Rimoin’s Principles and Practice of Medical Genetics
Chapter 115 – Genetic Disorders of Cerebral Cortical Development.
Mochida GH, Poduri A, Walsh CA.
In: Rimoin D, Pyeritz R, Korf B, editors. Emery and Rimoin’s Principles and Practice of Medical Genetics. Oxford: Academic Press; 2013. p. 1-26. doi: https://doi.org/10.1016/B978-0-12-383834-6.00121-X.
2012 Cell
Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation.
Yang YJ, Baltus AE, Mathew RS, Murphy EA, Evrony GD, Gonzalez DM, Wang EP, Marshall-Walker CA, Barry BJ, Murn J, Tatarakis A, Mahajan MA, Samuels HH, Shi Y, Golden JA, Mahajnah M, Shenhav R, Walsh CA.
Cell. 2012 Nov 21; 151(5): 1097-112. Epub 2012/11/28. doi: 10.1016/j.cell.2012.10.043.
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2012 Cell
Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain.
Evrony GD, Cai X, Lee E, Hills LB, Elhosary PC, Lehmann HS, Parker JJ, Atabay KD, Gilmore EC, Poduri A, Park PJ, Walsh CA.
Cell. 2012 Oct 26; 151(3): 483-96. Epub 2012/10/30. doi: 10.1016/j.cell.2012.09.035.
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2012 Nat Genet
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Mochida GH, Ganesh VS, de Michelena MI, Dias H, Atabay KD, Kathrein KL, Huang HT, Hill RS, Felie JM, Rakiec D, Gleason D, Hill AD, Malik AN, Barry BJ, Partlow JN, Tan WH, Glader LJ, Barkovich AJ, Dobyns WB, Zon LI, Walsh CA.
Nat Genet. 2012 Nov; 44(11): 1260-4. Epub 2012/10/02. doi: 10.1038/ng.2425.
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2012 Am J Hum Genet
Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.
Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA.
Am J Hum Genet. 2012 Sep 7; 91(3): 541-7. Epub 2012/09/11. doi: 10.1016/j.ajhg.2012.07.009.
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2012 Mol Cell
Molecular basis for specific regulation of neuronal kinesin-3 motors by doublecortin family proteins.
Liu JS, Schubert CR, Fu X, Fourniol FJ, Jaiswal JK, Houdusse A, Stultz CM, Moores CA, Walsh CA.
Mol Cell. 2012 Sep 14; 47(5): 707-21. Epub 2012/08/04. doi: 10.1016/j.molcel.2012.06.025.
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2012 Jasper’s Basic Mechanisms of the Epilepsies
Rare genetic causes of lissencephaly may implicate microtubule-based transport in the pathogenesis of cortical dysplasias.
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2012 Epilepsia
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
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2012 PLoS Genet
Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
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PLoS Genet. 2012; 8(4): e1002635. Epub 2012/04/19. doi: 10.1371/journal.pgen.1002635.
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2012 Nucleic Acids Res
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2012 Neuron
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2012 Am J Med Genet A
Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.
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2012 Neurology
FLNA genomic rearrangements cause periventricular nodular heterotopia.
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2011 Am J Med Genet A
Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.
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2011 Annu Rev Cell Dev Biol
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2011 PLoS Genet
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans.
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2011 Am J Hum Genet
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2011 AJNR Am J Neuroradiol
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2011 Neuron
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2011 Curr Opin Genet Dev
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2011 Neural Dev
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2010 Am J Hum Genet
A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts.
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2010 Am J Hum Genet
SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system.
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2010 Neuron
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2010 Am J Med Genet A
Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort.
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2010 Nat Genet
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture.
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2010 Am J Med Genet A
Mutation in PQBP1 is associated with periventricular heterotopia.
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Am J Med Genet A. 2010 Nov; 152a(11): 2888-90. Epub 2010/10/05. doi: 10.1002/ajmg.a.33507.
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2010 Neuron
Cux1 and Cux2 regulate dendritic branching, spine morphology, and synapses of the upper layer neurons of the cortex.
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2010 Am J Med Genet B Neuropsychiatr Genet
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
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2010 Development
Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors.
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Development. 2010 Jun; 137(11): 1907-17. Epub 2010/05/13. doi: 10.1242/dev.040410.
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2010 Ann Neurol
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2010 Neuron
The apical complex couples cell fate and cell survival to cerebral cortical development.
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2010 Nat Neurosci
The exon junction complex component Magoh controls brain size by regulating neural stem cell division.
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2010 Epilepsia
Genetic malformations of the human frontal lobe.
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Epilepsia. 2010 Feb; 51 Suppl 1(0 1): 13-6. Epub 2010/04/02. doi: 10.1111/j.1528-1167.2009.02435.x.
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2010 Pediatrics
Clinical genetic testing for patients with autism spectrum disorders.
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Pediatrics. 2010 Apr; 125(4): e727-35. Epub 2010/03/17. doi: 10.1542/peds.2009-1684.
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2010 Nat Genet
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
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2010 Brain Dev
The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
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2009 Am J Hum Genet
A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly.
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2009 Neurology
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
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2009 Hum Mol Genet
Detecting natural selection by empirical comparison to random regions of the genome.
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Hum Mol Genet. 2009 Dec 15; 18(24): 4853-67. Epub 2009/09/29. doi: 10.1093/hmg/ddp457.
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2009 Dev Biol
Transcription factor Lmo4 defines the shape of functional areas in developing cortices and regulates sensorimotor control.
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2009 Epilepsia
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
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2009 Hum Mol Genet
Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia.
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Hum Mol Genet. 2009 Feb 1; 18(3): 497-516. Epub 2008/11/11. doi: 10.1093/hmg/ddn377.
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2008 Am J Hum Genet
Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.
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2008 Cell
Autism and brain development.
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2008 Schizophr Res
Sequence analysis of P21-activated kinase 3 (PAK3) in chronic schizophrenia with cognitive impairment.
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2008 Hum Mutat
Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East.
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Hum Mutat. 2008 Nov; 29(11): E231-41. Epub 2008/08/30. doi: 10.1002/humu.20844.
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2008 Science
Identifying autism loci and genes by tracing recent shared ancestry.
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2008 PLoS Genet
Identification of neural outgrowth genes using genome-wide RNAi.
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PLoS Genet. 2008 Jul 4; 4(7): e1000111. Epub 2008/07/08. doi: 10.1371/journal.pgen.1000111.
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2008 Am J Med Genet A
Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy.
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2008 Am J Med Genet A
Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2.
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2008 J Neurosci
GPR56 regulates pial basement membrane integrity and cortical lamination.
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2008 Hum Mol Genet
Lis1-Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.
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2008 Dev Neurobiol
Cux-1 and Cux-2 control the development of Reelin expressing cortical interneurons.
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2008 N Engl J Med
Association between microdeletion and microduplication at 16p11.2 and autism.
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2008 Cereb Cortex
Cux-2 controls the proliferation of neuronal intermediate precursors of the cortical subventricular zone.
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2008 Eur J Paediatr Neurol
Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
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2008 Epilepsy: A Comprehensive Textbook
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2007 Novartis Found Symp
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2007 Neurology
A structural basis for reading fluency: white matter defects in a genetic brain malformation.
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2007 Am J Med Genet A
A novel form of lethal microcephaly with simplified gyral pattern and brain stem hypoplasia.
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2007 Clin Chem
Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance.
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2007 Biochem Biophys Res Commun
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2007 J Proteome Res
A comparative proteomic analysis of human and rat embryonic cerebrospinal fluid.
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2007 Nat Genet
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2007 Am J Med Genet A
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2007 Nat Neurosci
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2007 Hum Mol Genet
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2007 PLoS Genet
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2007 Hum Mol Genet
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2007 Am J Med Genet A
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2007 Science
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2007 J Neurosci
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2007 J Anat
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2007 Am J Med Genet B Neuropsychiatr Genet
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2006 Proc Natl Acad Sci U S A
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2006 Cell
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2006 Nat Rev Neurosci
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2006 Am J Med Genet A
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2006 Ann Neurol
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2006 Cereb Cortex
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2006 Am J Med Genet A
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2006 Brain
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2006 Ann Neurol
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2006 Arch Neurol
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2006 Am J Med Genet A
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2006 J Neurosci
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2006 Acta Neuropathol
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2006 Epilepsia
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2006 Neurology
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2006 Neuron
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2006 J Comp Neurol
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2006 J Med Genet
The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation.
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2005 Clin Med Res
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2005 Ann Neurol
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2005 J Med Genet
ASPM mutations identified in patients with primary microcephaly and seizures.
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2005 Nature
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2005 Brain Res
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2005 Hum Mol Genet
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein.
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2005 Proc Natl Acad Sci U S A
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Proc Natl Acad Sci U S A. 2005 Jun 14; 102(24): 8549-54. Epub 2005/06/09. doi: 10.1073/pnas.0502303102.
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2005 J Med Genet
POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
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2005 Science
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2005 Am J Med Genet A
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2005 Mol Cell Biol
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2005 Nat Genet
A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
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2005 Neurology
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2005 Neurology
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2005 Am J Med Genet A
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2004 Proc Natl Acad Sci U S A
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2004 Nat Cell Biol
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2004 Neuron
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2004 J Comp Neurol
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2004 Nat Genet
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
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2004 Pediatr Res
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2004 Neuroimaging Clin N Am
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2004 J Med Genet
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2004 Brain Dev
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2004 Neurology
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2004 Arch Neurol
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2004 PLoS Biol
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2004 Science
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2004 Curr Opin Neurobiol
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2004 Nat Genet
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2004 Neurology
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2004 Nat Genet
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2003 Epilepsy Behav
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2003 Am J Hum Genet
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Curr Neurol Neurosci Rep. 2003 Sep; 3(5): 433-41. Epub 2003/08/14. doi: 10.1007/s11910-003-0027-8.
PubMed ID: 12914687
2003 Neurology
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA.
Neurology. 2003 May 27; 60(10): 1664-7. Epub 2003/05/29. doi: 10.1212/01.wnl.0000068548.58498.41.
PubMed ID: 12771259
2003 Cereb Cortex
Increased neuronal production, enlarged forebrains and cytoarchitectural distortions in beta-catenin overexpressing transgenic mice.
Chenn A, Walsh CA.
Cereb Cortex. 2003 Jun; 13(6): 599-606. Epub 2003/05/24. doi: 10.1093/cercor/13.6.599.
PubMed ID: 12764034
2003 Ann Neurol
Markers of cellular proliferation are expressed in cortical tubers.
Lee A, Maldonado M, Baybis M, Walsh CA, Scheithauer B, Yeung R, Parent J, Weiner HL, Crino PB.
Ann Neurol. 2003 May; 53(5): 668-73. Epub 2003/05/06. doi: 10.1002/ana.10579.
PubMed ID: 12731003
2003 Ann Neurol
Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16.
Chang BS, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA.
Ann Neurol. 2003 May; 53(5): 596-606. Epub 2003/05/06. doi: 10.1002/ana.10520.
PubMed ID: 12730993
2003 Nat Struct Biol
The DCX-domain tandems of doublecortin and doublecortin-like kinase.
Kim MH, Cierpicki T, Derewenda U, Krowarsch D, Feng Y, Devedjiev Y, Dauter Z, Walsh CA, Otlewski J, Bushweller JH, Derewenda ZS.
Nat Struct Biol. 2003 May; 10(5): 324-33. Epub 2003/04/15. doi: 10.1038/nsb918.
PubMed ID: 12692530
2003 J Comp Neurol
Characterization of Foxp2 and Foxp1 mRNA and protein in the developing and mature brain.
Ferland RJ, Cherry TJ, Preware PO, Morrisey EE, Walsh CA.
J Comp Neurol. 2003 May 26; 460(2): 266-79. Epub 2003/04/11. doi: 10.1002/cne.10654.
PubMed ID: 12687690
2003 Neurology
Autosomal recessive form of periventricular heterotopia.
Sheen VL, Topçu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA.
Neurology. 2003 Apr 8; 60(7): 1108-12. Epub 2003/04/12. doi: 10.1212/01.wnl.0000055898.00349.02.
PubMed ID: 12682315
2003 Neurology
Periventricular heterotopia associated with chromosome 5p anomalies.
Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH.
Neurology. 2003 Mar 25; 60(6): 1033-6. Epub 2003/03/26. doi: 10.1212/01.wnl.0000052689.03214.61.
PubMed ID: 12654978
2003 Brain Res Dev Brain Res
Reelin is expressed in the accessory olfactory system, but is not a guidance cue for vomeronasal axons.
Teillon SM, Yiu G, Walsh CA.
Brain Res Dev Brain Res. 2003 Feb 16; 140(2): 303-7. Epub 2003/02/15. doi: 10.1016/s0165-3806(02)00616-8.
PubMed ID: 12586436
2003 Am J Med Genet A
Cryptic t(1;12)(q44;p13.3) translocation in a previously described syndrome with polymicrogyria, segregating as an apparently X-linked trait.
Zollino M, Colosimo C, Zuffardi O, Rossi E, Tosolini A, Walsh CA, Neri G.
Am J Med Genet A. 2003 Feb 15; 117a(1): 65-71. Epub 2003/01/28. doi: 10.1002/ajmg.a.10068.
PubMed ID: 12548742
2002 Acta Neuropathol
Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex.
Kakita A, Hayashi S, Moro F, Guerrini R, Ozawa T, Ono K, Kameyama S, Walsh CA, Takahashi H.
Acta Neuropathol. 2002 Dec; 104(6): 649-57. Epub 2002/11/01. doi: 10.1007/s00401-002-0594-9.
PubMed ID: 12410386
2002 Hum Mol Genet
Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.
Sheen VL, Feng Y, Graham D, Takafuta T, Shapiro SS, Walsh CA.
Hum Mol Genet. 2002 Nov 1; 11(23): 2845-54. Epub 2002/10/24. doi: 10.1093/hmg/11.23.2845.
PubMed ID: 12393796
2002 Am J Hum Genet
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG.
Am J Hum Genet. 2002 Nov; 71(5): 1033-43. Epub 2002/10/09. doi: 10.1086/342975.
PubMed ID: 12369018; PubMed Central ID: PMC419999
2002 Nat Genet
ASPM is a major determinant of cerebral cortical size.
Bond J, Roberts E, Mochida GH, Hampshire DJ, Scott S, Askham JM, Springell K, Mahadevan M, Crow YJ, Markham AF, Walsh CA, Woods CG.
Nat Genet. 2002 Oct; 32(2): 316-20. Epub 2002/10/02. doi: 10.1038/ng995.
PubMed ID: 12355089
2002 J Neurosci
Doublecortin is required in mice for lamination of the hippocampus but not the neocortex.
Corbo JC, Deuel TA, Long JM, LaPorte P, Tsai E, Wynshaw-Boris A, Walsh CA.
J Neurosci. 2002 Sep 1; 22(17): 7548-57. Epub 2002/08/28. doi: 10.1523/jneurosci.22-17-07548.2002.
PubMed ID: 12196578; PubMed Central ID: PMC6757990
2002 Science
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.
Chenn A, Walsh CA.
Science. 2002 Jul 19; 297(5580): 365-9. Epub 2002/07/20. doi: 10.1126/science.1074192.
PubMed ID: 12130776
2002 Curr Opin Genet Dev
Smooth, rough and upside-down neocortical development.
Olson EC, Walsh CA.
Curr Opin Genet Dev. 2002 Jun; 12(3): 320-7. Epub 2002/06/22. doi: 10.1016/s0959-437x(02)00305-2.
PubMed ID: 12076676
2002 J Neurosci
Evidence of common progenitors and patterns of dispersion in rat striatum and cerebral cortex.
Reid CB, Walsh CA.
J Neurosci. 2002 May 15; 22(10): 4002-14. Epub 2002/05/23. doi: 10.1523/jneurosci.22-10-04002.2002.
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2002 Mamm Genome
Mapping of the mouse hyh gene to a YAC/BAC contig on proximal Chromosome 7.
Chae TH, Allen KM, Davisson MT, Sweet HO, Walsh CA.
Mamm Genome. 2002 May; 13(5): 239-44. Epub 2002/05/23. doi: 10.1007/s00335-001-2144-5.
PubMed ID: 12016511
2002 Am J Hum Genet
An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.
Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA.
Am J Hum Genet. 2002 Apr; 70(4): 1028-33. Epub 2002/02/15. doi: 10.1086/339552.
PubMed ID: 11845408; PubMed Central ID: PMC379097
2002 Emery & Rimoin’s principles and practice of medical genetics
Genetic malformations of the human cerebral cortex.
Sabry M, Mochida G, Walsh C.
In: Rimoin DL, Connor JM, Pyeritz RE, Emery AEH, editors. Emery & Rimoin’s principles and practice of medical genetics. 4th ed. ed. London
Edinburgh: Churchill Livingstone; 2002. p. 3012-35.
2001 Neuron
Patterning of the dorsal telencephalon and cerebral cortex by a roof plate-Lhx2 pathway.
Monuki ES, Porter FD, Walsh CA.
Neuron. 2001 Nov 20; 32(4): 591-604. Epub 2001/11/24. doi: 10.1016/s0896-6273(01)00504-9.
PubMed ID: 11719201
2001 Nat Neurosci
Mechanisms of cerebral cortical patterning in mice and humans.
Monuki ES, Walsh CA.
Nat Neurosci. 2001 Nov; 4 Suppl: 1199-206. Epub 2001/11/01. doi: 10.1038/nn752.
PubMed ID: 11687830
2001 Hum Mol Genet
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Sheen VL, Dixon PH, Fox JW, Hong SE, Kinton L, Sisodiya SM, Duncan JS, Dubeau F, Scheffer IE, Schachter SC, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole AJ, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida GH, Berkovic SF, Andermann F, Andermann E, Dobyns WB, Wood NW, Walsh CA.
Hum Mol Genet. 2001 Aug 15; 10(17): 1775-83. Epub 2001/09/05. doi: 10.1093/hmg/10.17.1775.
PubMed ID: 11532987
2001 Annu Rev Neurosci
Human brain malformations and their lessons for neuronal migration.
Ross ME, Walsh CA.
Annu Rev Neurosci. 2001; 24: 1041-70. Epub 2001/08/25. doi: 10.1146/annurev.neuro.24.1.1041.
PubMed ID: 11520927
2001 J Neurosci
Telencephalic neural progenitors appear to be restricted to regional and glial fates before the onset of neurogenesis.
McCarthy M, Turnbull DH, Walsh CA, Fishell G.
J Neurosci. 2001 Sep 1; 21(17): 6772-81. Epub 2001/08/23. doi: 10.1523/jneurosci.21-17-06772.2001.
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2001 Trends Neurosci
Neuroscience in the post-genome era: an overview.
Walsh CA.
Trends Neurosci. 2001 Jul; 24(7): 363-4. Epub 2001/06/19. doi: 10.1016/s0166-2236(00)01866-x.
PubMed ID: 11410254
2001 Nat Rev Neurosci
Protein-protein interactions, cytoskeletal regulation and neuronal migration.
Feng Y, Walsh CA.
Nat Rev Neurosci. 2001 Jun; 2(6): 408-16. Epub 2001/06/05. doi: 10.1038/35077559.
PubMed ID: 11389474
2001 Curr Opin Neurol
Molecular genetics of human microcephaly.
Mochida GH, Walsh CA.
Curr Opin Neurol. 2001 Apr; 14(2): 151-6. Epub 2001/03/23. doi: 10.1097/00019052-200104000-00003.
PubMed ID: 11262728
2001 Neurology
Callosal agenesis with cyst: a better understanding and new classification.
Barkovich AJ, Simon EM, Walsh CA.
Neurology. 2001 Jan 23; 56(2): 220-7. Epub 2001/02/13. doi: 10.1212/wnl.56.2.220.
PubMed ID: 11160959
2000 Neuron
LIS1 regulates CNS lamination by interacting with mNudE, a central component of the centrosome.
Feng Y, Olson EC, Stukenberg PT, Flanagan LA, Kirschner MW, Walsh CA.
Neuron. 2000 Dec; 28(3): 665-79. Epub 2001/02/13. doi: 10.1016/s0896-6273(00)00145-8.
PubMed ID: 11163258
2000 J Neurosci
DCAMKL1 encodes a protein kinase with homology to doublecortin that regulates microtubule polymerization.
Lin PT, Gleeson JG, Corbo JC, Flanagan L, Walsh CA.
J Neurosci. 2000 Dec 15; 20(24): 9152-61. Epub 2000/01/11. doi: 10.1523/jneurosci.20-24-09152.2000.
PubMed ID: 11124993; PubMed Central ID: PMC6773030
2000 Ment Retard Dev Disabil Res Rev
Cortical malformations and epilepsy.
Schwartzkroin PA, Walsh CA.
Ment Retard Dev Disabil Res Rev. 2000; 6(4): 268-80. Epub 2000/12/07. doi: 10.1002/1098-2779(2000)6:4<268::Aid-mrdd6>3.0.Co;2-b.
PubMed ID: 11107192
2000 Pediatr Radiol
Periventricular nodular heterotopia in patients with filamin-1 gene mutations: neuroimaging findings.
Poussaint TY, Fox JW, Dobyns WB, Radtke R, Scheffer IE, Berkovic SF, Barnes PD, Huttenlocher PR, Walsh CA.
Pediatr Radiol. 2000 Nov; 30(11): 748-55. Epub 2000/12/02. doi: 10.1007/s002470000312.
PubMed ID: 11100490
2000 Nat Genet
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA.
Nat Genet. 2000 Sep; 26(1): 93-6. Epub 2000/09/06. doi: 10.1038/79246.
PubMed ID: 10973257
2000 Am J Med Genet
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
Bienvenu T, des Portes V, McDonell N, Carrié A, Zemni R, Couvert P, Ropers HH, Moraine C, van Bokhoven H, Fryns JP, Allen K, Walsh CA, Boué J, Kahn A, Chelly J, Beldjord C.
Am J Med Genet. 2000 Aug 14; 93(4): 294-8. Epub 2000/08/18. doi: 10.1002/1096-8628(20000814)93:4<294::aid-ajmg8>3.0.co;2-f.
PubMed ID: 10946356
2000 J Biol Chem
Patient mutations in doublecortin define a repeated tubulin-binding domain.
Taylor KR, Holzer AK, Bazan JF, Walsh CA, Gleeson JG.
J Biol Chem. 2000 Nov 3; 275(44): 34442-50. Epub 2000/08/18. doi: 10.1074/jbc.M007078200.
PubMed ID: 10946000
2000 Neuron
Reelin binds alpha3beta1 integrin and inhibits neuronal migration.
Dulabon L, Olson EC, Taglienti MG, Eisenhuth S, McGrath B, Walsh CA, Kreidberg JA, Anton ES.
Neuron. 2000 Jul; 27(1): 33-44. Epub 2000/08/12. doi: 10.1016/s0896-6273(00)00007-6.
PubMed ID: 10939329
2000 Am J Hum Genet
Somatic and germline mosaic mutations in the doublecortin gene are associated with variable phenotypes.
Gleeson JG, Minnerath S, Kuzniecky RI, Dobyns WB, Young ID, Ross ME, Walsh CA.
Am J Hum Genet. 2000 Sep; 67(3): 574-81. Epub 2000/08/01. doi: 10.1086/303043.
PubMed ID: 10915612; PubMed Central ID: PMC1287517
2000 Trends Neurosci
Neuronal migration disorders: from genetic diseases to developmental mechanisms.
Gleeson JG, Walsh CA.
Trends Neurosci. 2000 Aug; 23(8): 352-9. Epub 2000/07/25. doi: 10.1016/s0166-2236(00)01607-6.
PubMed ID: 10906798
2000 Ment Retard Dev Disabil Res Rev
Genetics of neuronal migration in the cerebral cortex.
Walsh CA.
Ment Retard Dev Disabil Res Rev. 2000; 6(1): 34-40. Epub 2000/07/19. doi: 10.1002/(sici)1098-2779(2000)6:1<34::Aid-mrdd5>3.0.Co;2-y.
PubMed ID: 10899795
2000 Nat Neurosci
Proto-mapping the areas of cerebral cortex: transcription factors make the grade.
Monuki ES, Walsh CA.
Nat Neurosci. 2000 Jul; 3(7): 640-1. Epub 2000/06/22. doi: 10.1038/76587.
PubMed ID: 10862691
2000 Curr Opin Genet Dev
Potential mechanisms of mutations that affect neuronal migration in man and mouse.
Walsh CA, Goffinet AM.
Curr Opin Genet Dev. 2000 Jun; 10(3): 270-4. Epub 2000/05/29. doi: 10.1016/s0959-437x(00)00076-9.
PubMed ID: 10826984
2000 Nat Neurosci
A mapping label required for normal scale of body representation in the cortex.
Vanderhaeghen P, Lu Q, Prakash N, Frisén J, Walsh CA, Frostig RD, Flanagan JG.
Nat Neurosci. 2000 Apr; 3(4): 358-65. Epub 2000/03/22. doi: 10.1038/73929.
PubMed ID: 10725925
2000 Ann Neurol
Genetic and neuroradiological heterogeneity of double cortex syndrome.
Gleeson JG, Luo RF, Grant PE, Guerrini R, Huttenlocher PR, Berg MJ, Ricci S, Cusmai R, Wheless JW, Berkovic S, Scheffer I, Dobyns WB, Walsh CA.
Ann Neurol. 2000 Feb; 47(2): 265-9. Epub 2000/02/09.
PubMed ID: 10665503
1999 J Neurol
Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
Illarioshkin SN, Allen KM, Gleeson JG, Tsuji S, Ikeuchi T, Markova ED, Walsh CA, Ivanova-Smolenskaya IA.
J Neurol. 1999 Dec; 246(12): 1177-80. Epub 2000/02/01. doi: 10.1007/s004150050539.
PubMed ID: 10653312
1999 Science
Perspectives: neurobiology. Cranking it up a notch.
Chenn A, Walsh CA.
Science. 1999 Oct 22; 286(5440): 689-90. Epub 1999/11/30. doi: 10.1126/science.286.5440.689.
PubMed ID: 10577225
1999 Epilepsy Res
Genes that regulate neuronal migration in the cerebral cortex.
Allen KM, Walsh CA.
Epilepsy Res. 1999 Sep; 36(2-3): 143-54. Epub 1999/10/09. doi: 10.1016/s0920-1211(99)00048-0.
PubMed ID: 10515162
1999 Cereb Cortex
Coexistence of widespread clones and large radial clones in early embryonic ferret cortex.
Ware ML, Tavazoie SF, Reid CB, Walsh CA.
Cereb Cortex. 1999 Sep; 9(6): 636-45. Epub 1999/09/25. doi: 10.1093/cercor/9.6.636.
PubMed ID: 10498282
1999 Neurology
Differences in the gyral pattern distinguish chromosome 17-linked and X-linked lissencephaly.
Dobyns WB, Truwit CL, Ross ME, Matsumoto N, Pilz DT, Ledbetter DH, Gleeson JG, Walsh CA, Barkovich AJ.
Neurology. 1999 Jul 22; 53(2): 270-7. Epub 1999/08/03. doi: 10.1212/wnl.53.2.270.
PubMed ID: 10430413
1999 Neuron
Genetic malformations of the human cerebral cortex.
Walsh CA.
Neuron. 1999 May; 23(1): 19-29. Epub 1999/07/13. doi: 10.1016/s0896-6273(00)80749-7.
PubMed ID: 10402190
1999 Neuron
Doublecortin is a microtubule-associated protein and is expressed widely by migrating neurons.
Gleeson JG, Lin PT, Flanagan LA, Walsh CA.
Neuron. 1999 Jun; 23(2): 257-71. Epub 1999/07/10. doi: 10.1016/s0896-6273(00)80778-3.
PubMed ID: 10399933
1999 Am J Hum Genet
Periventricular heterotopia and the genetics of neuronal migration in the cerebral cortex.
Fox JW, Walsh CA.
Am J Hum Genet. 1999 Jul; 65(1): 19-24. Epub 1999/06/12. doi: 10.1086/302474.
PubMed ID: 10364512; PubMed Central ID: PMC1378070
1999 J Comp Neurol
Clonal mixing, clonal restriction, and specification of cell types in the developing rat olfactory bulb.
Reid CB, Liang I, Walsh CA.
J Comp Neurol. 1999 Jan 5; 403(1): 106-18. Epub 1999/03/13.
PubMed ID: 10075446
1999 Ann Neurol
Characterization of mutations in the gene doublecortin in patients with double cortex syndrome.
Gleeson JG, Minnerath SR, Fox JW, Allen KM, Luo RF, Hong SE, Berg MJ, Kuzniecky R, Reitnauer PJ, Borgatti R, Mira AP, Guerrini R, Holmes GL, Rooney CM, Berkovic S, Scheffer I, Cooper EC, Ricci S, Cusmai R, Crawford TO, Leroy R, Andermann E, Wheless JW, Dobyns WB, Walsh CA, et al.
Ann Neurol. 1999 Feb; 45(2): 146-53. Epub 1999/02/16. doi: 10.1002/1531-8249(199902)45:2<146::aid-ana3>3.0.co;2-n.
PubMed ID: 9989615
1999 Cell Lineage and Fate Determination
36 – Cell Fate and Cell Migration in the Developing Cerebral Cortex.
Ware ML, Walsh CA.
In: Moody SA, editor. Cell Lineage and Fate Determination. San Diego: Academic Press; 1999. p. 529-47. doi: https://doi.org/10.1016/B978-012505255-9/50037-7.
1998 Neuron
Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.
Fox JW, Lamperti ED, Ekşioğlu YZ, Hong SE, Feng Y, Graham DA, Scheffer IE, Dobyns WB, Hirsch BA, Radtke RA, Berkovic SF, Huttenlocher PR, Walsh CA.
Neuron. 1998 Dec; 21(6): 1315-25. Epub 1999/01/12. doi: 10.1016/s0896-6273(00)80651-0.
PubMed ID: 9883725
1998 Hum Mol Genet
LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation.
Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME.
Hum Mol Genet. 1998 Dec; 7(13): 2029-37. Epub 1998/11/18. doi: 10.1093/hmg/7.13.2029.
PubMed ID: 9817918
1998 Genomics
A YAC contig in Xq22.3-q23, from DXS287 to DXS8088, spanning the brain-specific genes doublecortin (DCX) and PAK3.
Allen KM, Gleeson JG, Shoup SM, Walsh CA.
Genomics. 1998 Sep 1; 52(2): 214-8. Epub 1998/10/23. doi: 10.1006/geno.1998.5424.
PubMed ID: 9782089
1998 Nat Genet
PAK3 mutation in nonsyndromic X-linked mental retardation.
Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA.
Nat Genet. 1998 Sep; 20(1): 25-30. Epub 1998/09/10. doi: 10.1038/1675.
PubMed ID: 9731525
1998 Nat Genet
LISsen up!
Walsh CA.
Nat Genet. 1998 Aug; 19(4): 307-8. Epub 1998/08/11. doi: 10.1038/1186.
PubMed ID: 9697681
1998 Neurology
X-linked female band heterotopia-male lissencephaly syndrome.
Berg MJ, Schifitto G, Powers JM, Martinez-Capolino C, Fong CT, Myers GJ, Epstein LG, Walsh CA.
Neurology. 1998 Apr; 50(4): 1143-6. Epub 1998/05/05. doi: 10.1212/wnl.50.4.1143.
PubMed ID: 9566411
1998 Cell
Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein.
Gleeson JG, Allen KM, Fox JW, Lamperti ED, Berkovic S, Scheffer I, Cooper EC, Dobyns WB, Minnerath SR, Ross ME, Walsh CA.
Cell. 1998 Jan 9; 92(1): 63-72. Epub 1998/03/07. doi: 10.1016/s0092-8674(00)80899-5.
PubMed ID: 9489700
1997 J Neurosci
Birthdate and cell marker analysis of scrambler: a novel mutation affecting cortical development with a reeler-like phenotype.
González JL, Russo CJ, Goldowitz D, Sweet HO, Davisson MT, Walsh CA.
J Neurosci. 1997 Dec 1; 17(23): 9204-11. Epub 1997/12/31. doi: 10.1523/jneurosci.17-23-09204.1997.
PubMed ID: 9364067; PubMed Central ID: PMC6573592
1997 Neuron
Aberrant splicing of a mouse disabled homolog, mdab1, in the scrambler mouse.
Ware ML, Fox JW, González JL, Davis NM, Lambert de Rouvroit C, Russo CJ, Chua SC, Jr., Goffinet AM, Walsh CA.
Neuron. 1997 Aug; 19(2): 239-49. Epub 1997/08/01. doi: 10.1016/s0896-6273(00)80936-8.
PubMed ID: 9292716
1997 Development
Clonal dispersion and evidence for asymmetric cell division in ferret cortex.
Reid CB, Tavazoie SF, Walsh CA.
Development. 1997 Jun; 124(12): 2441-50. Epub 1997/06/01.
PubMed ID: 9199370
1997 Hum Mol Genet
Linkage and physical mapping of X-linked lissencephaly/SBH (XLIS): a gene causing neuronal migration defects in human brain.
Ross ME, Allen KM, Srivastava AK, Featherstone T, Gleeson JG, Hirsch B, Harding BN, Andermann E, Abdullah R, Berg M, Czapansky-Bielman D, Flanders DJ, Guerrini R, Motté J, Mira AP, Scheffer I, Berkovic S, Scaravilli F, King RA, Ledbetter DH, Schlessinger D, Dobyns WB, Walsh CA.
Hum Mol Genet. 1997 Apr; 6(4): 555-62. Epub 1997/04/01. doi: 10.1093/hmg/6.4.555.
PubMed ID: 9097958
1997 Normal and Abnormal Development of the Cortex
New Genetic Insights into Cerebral Cortical Development.
Gleeson JG, Walsh CA.
In: Galaburda AM, Christen Y, editors. Normal and Abnormal Development of the Cortex. Research and Perspectives in Neurosciences. Berlin, Heidelberg: Springer Berlin Heidelberg; 1997. p. 145-63. doi: 10.1007/978-3-642-60861-2_9.
1996 Prog Brain Res
Early development of the cerebral cortex.
Reid CB, Walsh CA.
Prog Brain Res. 1996; 108: 17-30. Epub 1996/01/01. doi: 10.1016/s0079-6123(08)62529-7.
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1996 Curr Biol
Neural development: identical twins separated at birth?
Walsh CA.
Curr Biol. 1996 Jan 1; 6(1): 26-8. Epub 1996/01/01. doi: 10.1016/s0960-9822(02)00413-x.
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1996 Neurology
X-linked malformations of neuronal migration.
Dobyns WB, Andermann E, Andermann F, Czapansky-Beilman D, Dubeau F, Dulac O, Guerrini R, Hirsch B, Ledbetter DH, Lee NS, Motte J, Pinard JM, Radtke RA, Ross ME, Tampieri D, Walsh CA, Truwit CL.
Neurology. 1996 Aug; 47(2): 331-9. Epub 1996/08/01. doi: 10.1212/wnl.47.2.331.
PubMed ID: 8757001
1996 Neuron
Periventricular heterotopia: an X-linked dominant epilepsy locus causing aberrant cerebral cortical development.
Ekşioğlu YZ, Scheffer IE, Cardenas P, Knoll J, DiMario F, Ramsby G, Berg M, Kamuro K, Berkovic SF, Duyk GM, Parisi J, Huttenlocher PR, Walsh CA.
Neuron. 1996 Jan; 16(1): 77-87. Epub 1996/01/01. doi: 10.1016/s0896-6273(00)80025-2.
PubMed ID: 8562093
1995 Ciba Found Symp
Cell lineage and patterns of migration in the developing cortex.
Walsh C, Reid C.
Ciba Found Symp. 1995; 193: 21-40; discussion 59-70. Epub 1995/01/01. doi: 10.1002/9780470514795.ch2.
PubMed ID: 8727485
1995 Methods Enzymol
Lineage analysis using retrovirus vectors.
Cepko C, Ryder EF, Austin CP, Walsh C, Fekete DM.
Methods Enzymol. 1995; 254: 387-419. Epub 1995/01/01. doi: 10.1016/0076-6879(95)54027-x.
PubMed ID: 8531701
1995 Neuron
Systematic widespread clonal organization in cerebral cortex.
Reid CB, Liang I, Walsh C.
Neuron. 1995 Aug; 15(2): 299-310. Epub 1995/08/01. doi: 10.1016/0896-6273(95)90035-7.
PubMed ID: 7646887
1995 Brain Development and Epilepsy
Neuronal identity, neuronal migration, and epileptic disorders of the cerebral cortex.
Walsh CA.
In: Schwartzkroin PA, Moshe SL, Noebels JL, Swann JW, editors. Brain Development and Epilepsy. New York: Oxford University Press; 1995. p. 122-43.
1995 Methods in Molecular Genetics
[18] Polymerase chain reaction-based techniques for utilizing retroviruses as cell lineage markers.
Walsh CA.
In: Adolph KW, editor. Methods in Molecular Genetics. 7: Academic Press; 1995. p. 280-95. doi: https://doi.org/10.1016/S1067-2389(06)80050-6.
1993 Nature
Clonal dispersion in proliferative layers of developing cerebral cortex.
Walsh C, Cepko CL.
Nature. 1993 Apr 15; 362(6421): 632-5. Epub 1993/04/15. doi: 10.1038/362632a0.
PubMed ID: 8464513
1993 Methods Enzymol
Lineage analysis using retrovirus vectors.
Cepko CL, Ryder EF, Austin CP, Walsh C, Fekete DM.
Methods Enzymol. 1993; 225: 933-60. Epub 1993/01/01. doi: 10.1016/0076-6879(93)25059-b.
PubMed ID: 8231895
1993 Perspect Dev Neurobiol
Cell lineage and regional specification in the mammalian neocortex.
Walsh C.
Perspect Dev Neurobiol. 1993; 1(2): 75-80. Epub 1993/01/01.
PubMed ID: 7916255
1992 Science
Widespread dispersion of neuronal clones across functional regions of the cerebral cortex.
Walsh C, Cepko CL.
Science. 1992 Jan 24; 255(5043): 434-40. Epub 1992/01/24. doi: 10.1126/science.1734520.
PubMed ID: 1734520
1992 Cell
Multipotent neural cell lines can engraft and participate in development of mouse cerebellum.
Snyder EY, Deitcher DL, Walsh C, Arnold-Aldea S, Hartwieg EA, Cepko CL.
Cell. 1992 Jan 10; 68(1): 33-51. Epub 1992/01/10. doi: 10.1016/0092-8674(92)90204-p.
PubMed ID: 1732063
1990 Experientia
Cell lineage and cell migration in the developing cerebral cortex.
Walsh C, Cepko CL.
Experientia. 1990 Sep 15; 46(9): 940-7. Epub 1990/09/15. doi: 10.1007/bf01939387.
PubMed ID: 2209803
1990 Cold Spring Harb Symp Quant Biol
Studies of cortical development using retrovirus vectors.
Cepko CL, Austin CP, Walsh C, Ryder EF, Halliday A, Fields-Berry S.
Cold Spring Harb Symp Quant Biol. 1990; 55: 265-78. Epub 1990/01/01. doi: 10.1101/sqb.1990.055.01.029.
PubMed ID: 2132820
1988 Science
Clonally related cortical cells show several migration patterns.
Walsh C, Cepko CL.
Science. 1988 Sep 9; 241(4871): 1342-5. Epub 1988/09/09. doi: 10.1126/science.3137660.
PubMed ID: 3137660
1987 J Comp Neurol
Early uncrossed component of the developing optic nerve with a short extracerebral course: a light and electron microscopic study of fetal ferrets.
Guillery RW, Walsh C.
J Comp Neurol. 1987 Nov 8; 265(2): 218-23. Epub 1987/11/08. doi: 10.1002/cne.902650206.
PubMed ID: 3693607
1987 J Comp Neurol
Changing glial organization relates to changing fiber order in the developing optic nerve of ferrets.
Guillery RW, Walsh C.
J Comp Neurol. 1987 Nov 8; 265(2): 203-17. Epub 1987/11/08. doi: 10.1002/cne.902650205.
PubMed ID: 3693606
1987 Encyclopedia of neuroscience
The optic nerves, optic chiasm, and optic tracts.
Walsh CA.
In: Adelman G, editor. Encyclopedia of neuroscience. Boston: Birkhäeuser; 1987. p. 888-90.
1986 J Neurosci
Age-related fiber order in the ferret’s optic nerve and optic chiasm.
Walsh C.
J Neurosci. 1986 Jun; 6(6): 1635-42. Epub 1986/06/01. doi: 10.1523/jneurosci.06-06-01635.1986.
PubMed ID: 3712001; PubMed Central ID: PMC6568708
1986 N Engl J Med
Bowl-game pulmonary embolism.
Walsh C, Lauer MS, Huang PL, Page RL.
N Engl J Med. 1986 May 15; 314(20): 1324. Epub 1986/05/15. doi: 10.1056/nejm198605153142021.
PubMed ID: 3702938
1985 J Neurosci
The topography of ganglion cell production in the cat’s retina.
Walsh C, Polley EH.
J Neurosci. 1985 Mar; 5(3): 741-50. Epub 1985/03/01. doi: 10.1523/jneurosci.05-03-00741.1985.
PubMed ID: 3973694; PubMed Central ID: PMC6565040
1985 J Neurosci
Age-related fiber order in the optic tract of the ferret.
Walsh C, Guillery RW.
J Neurosci. 1985 Nov; 5(11): 3061-9. Epub 1985/11/01. doi: 10.1523/jneurosci.05-11-03061.1985.
PubMed ID: 3840527; PubMed Central ID: PMC6565162
1984 J Neurosci Methods
A technique for flat embedding and en face sectioning of the mammalian retina for autoradiography.
Polley EH, Walsh C.
J Neurosci Methods. 1984 Nov; 12(1): 57-64. Epub 1984/11/01. doi: 10.1016/0165-0270(84)90048-7.
PubMed ID: 6392758
1984 Trends in Neurosciences
Fibre order in the pathways from the eye to the brain.
Walsh C, Guillery RW.
Trends in Neurosciences. 1984 Jun 1; 7(6): 208-11. doi: https://doi.org/10.1016/S0166-2236(84)80012-0.
1983 Nature
Generation of cat retinal ganglion cells in relation to central pathways.
Walsh C, Polley EH, Hickey TL, Guillery RW.
Nature. 1983 Apr 14; 302(5909): 611-4. Epub 1983/04/14. doi: 10.1038/302611a0.
PubMed ID: 6835394
1980 Eur J Nucl Med
Relationship of molecular structure to in vivo distribution of carbon-11-labeled compounds. VI. Carbon-11-labeled aliphatic diamines.
Winstead MB, Dischino DD, Munder NA, Walsh C, Winchell HS.
Eur J Nucl Med. 1980 Apr; 5(2): 165-9. Epub 1980/04/01. doi: 10.1007/bf00252479.
PubMed ID: 7379819
1979 Horm Behav
Testosterone stimulates ultrasound production by male hamsters.
Floody OR, Walsh C, Flanagan MT.
Horm Behav. 1979 Apr; 12(2): 164-71. Epub 1979/04/01. doi: 10.1016/0018-506x(79)90018-7.
PubMed ID: 488926
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