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Page 1
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. Shao DD, et al. Among authors: neil je. Genet Med. 2021 Jun;23(6):1158-1162. doi: 10.1038/s41436-021-01097-x. Epub 2021 Feb 2. Genet Med. 2021. PMID: 33531666 Free PMC article.
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. Smith RS, et al. Among authors: neil je. Proc Natl Acad Sci U S A. 2021 Jun 22;118(25):e2023333118. doi: 10.1073/pnas.2023333118. Proc Natl Acad Sci U S A. 2021. PMID: 34161264 Free PMC article.
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. Haag N, et al. Among authors: neil je. Eur J Hum Genet. 2021 Nov;29(11):1663-1668. doi: 10.1038/s41431-021-00943-5. Epub 2021 Aug 20. Eur J Hum Genet. 2021. PMID: 34413497 Free PMC article.
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. Qi C, et al. Among authors: neil je. Genet Med. 2022 Feb;24(2):319-331. doi: 10.1016/j.gim.2021.09.014. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906466 Free PMC article.
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. Miller MB, et al. Among authors: neil je. Nature. 2022 Apr;604(7907):714-722. doi: 10.1038/s41586-022-04640-1. Epub 2022 Apr 20. Nature. 2022. PMID: 35444284 Free PMC article.
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. Akula SK, et al. Among authors: neil je. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argili E, Le C, Sherr EH, Gleeson J, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan T, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: neil je. medRxiv [Preprint]. 2023 Oct 5:2023.10.05.23296595. doi: 10.1101/2023.10.05.23296595. medRxiv. 2023. PMID: 37873196 Free PMC article. Updated. Preprint.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Lemire G, Sanchis-Juan A, Russell K, Baxter S, Chao KR, Singer-Berk M, Groopman E, Wong I, England E, Goodrich J, Pais L, Austin-Tse C, DiTroia S, O'Heir E, Ganesh VS, Wojcik MH, Evangelista E, Snow H, Osei-Owusu I, Fu J, Singh M, Mostovoy Y, Huang S, Garimella K, Kirkham SL, Neil JE, Shao DD, Walsh CA, Argilli E, Le C, Sherr EH, Gleeson JG, Shril S, Schneider R, Hildebrandt F, Sankaran VG, Madden JA, Genetti CA, Beggs AH, Agrawal PB, Bujakowska KM, Place E, Pierce EA, Donkervoort S, Bönnemann CG, Gallacher L, Stark Z, Tan TY, White SM, Töpf A, Straub V, Fleming MD, Pollak MR, Õunap K, Pajusalu S, Donald KA, Bruwer Z, Ravenscroft G, Laing NG, MacArthur DG, Rehm HL, Talkowski ME, Brand H, O'Donnell-Luria A. Lemire G, et al. Among authors: neil je. Am J Hum Genet. 2024 May 2;111(5):863-876. doi: 10.1016/j.ajhg.2024.03.008. Epub 2024 Apr 1. Am J Hum Genet. 2024. PMID: 38565148
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. Thomas AX, et al. Among authors: neil je. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
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. Akula SK, et al. Among authors: neil je. Proc Natl Acad Sci U S A. 2023 Jan 24;120(4):e2209964120. doi: 10.1073/pnas.2209964120. Epub 2023 Jan 20. Proc Natl Acad Sci U S A. 2023. PMID: 36669111 Free PMC article.
19 results