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Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development.
Chung C, Yang X, Bae T, Vong KI, Mittal S, Donkels C, Westley Phillips H, Li Z, Marsh APL, Breuss MW, Ball LL, Garcia CAB, George RD, Gu J, Xu M, Barrows C, James KN, Stanley V, Nidhiry AS, Khoury S, Howe G, Riley E, Xu X, Copeland B, Wang Y, Kim SH, Kang HC, Schulze-Bonhage A, Haas CA, Urbach H, Prinz M, Limbrick DD Jr, Gurnett CA, Smyth MD, Sattar S, Nespeca M, Gonda DD, Imai K, Takahashi Y, Chen HH, Tsai JW, Conti V, Guerrini R, Devinsky O, Silva WA Jr, Machado HR, Mathern GW, Abyzov A, Baldassari S, Baulac S; Focal Cortical Dysplasia Neurogenetics Consortium; Brain Somatic Mosaicism Network; Gleeson JG. Chung C, et al. Among authors: gurnett ca. Nat Genet. 2023 Feb;55(2):209-220. doi: 10.1038/s41588-022-01276-9. Epub 2023 Jan 12. Nat Genet. 2023. PMID: 36635388 Free PMC article.
Diverse monogenic subforms of human spermatogenic failure.
Nagirnaja L, Lopes AM, Charng WL, Miller B, Stakaitis R, Golubickaite I, Stendahl A, Luan T, Friedrich C, Mahyari E, Fadial E, Kasak L, Vigh-Conrad K, Oud MS, Xavier MJ, Cheers SR, James ER, Guo J, Jenkins TG, Riera-Escamilla A, Barros A, Carvalho F, Fernandes S, Gonçalves J, Gurnett CA, Jørgensen N, Jezek D, Jungheim ES, Kliesch S, McLachlan RI, Omurtag KR, Pilatz A, Sandlow JI, Smith J, Eisenberg ML, Hotaling JM, Jarvi KA, Punab M, Rajpert-De Meyts E, Carrell DT, Krausz C, Laan M, O'Bryan MK, Schlegel PN, Tüttelmann F, Veltman JA, Almstrup K, Aston KI, Conrad DF. Nagirnaja L, et al. Among authors: gurnett ca. Nat Commun. 2022 Dec 26;13(1):7953. doi: 10.1038/s41467-022-35661-z. Nat Commun. 2022. PMID: 36572685 Free PMC article.
An adult with KCNA2-related epilepsy and ataxia.
DeKorver NW, Zhao W, Butler MR, Di Luca DG, Gurnett C, Nascimento F. DeKorver NW, et al. Epileptic Disord. 2024 Apr;26(2):264-266. doi: 10.1002/epd2.20205. Epub 2024 Feb 17. Epileptic Disord. 2024. PMID: 38366944 No abstract available.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: gurnett ca. bioRxiv [Preprint]. 2023 Nov 22:2023.05.26.542293. doi: 10.1101/2023.05.26.542293. bioRxiv. 2023. PMID: 37292598 Free PMC article. Updated. Preprint.
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng RR, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: gurnett ca. Elife. 2024 Jan 26;12:RP89762. doi: 10.7554/eLife.89762. Elife. 2024. PMID: 38277211 Free PMC article.
The Brain Gene Registry: a data snapshot.
Baldridge D, Kaster L, Sancimino C, Srivastava S, Molholm S, Gupta A, Oh I, Lanzotti V, Grewal D, Riggs ER, Savatt JM, Hauck R, Sveden A; Brain Gene Registry Consortium; Constantino JN, Piven J, Gurnett CA, Chopra M, Hazlett H, Payne PRO. Baldridge D, et al. Among authors: gurnett ca. J Neurodev Disord. 2024 Apr 17;16(1):17. doi: 10.1186/s11689-024-09530-3. J Neurodev Disord. 2024. PMID: 38632549 Free PMC article.
135 results