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139 results

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Page 1
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.
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.
An adult with KCNA2-related epilepsy and ataxia.
DeKorver NW, Zhao W, Butler MR, Di Luca DG, Gurnett C, Nascimento FA. 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 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.
Correction: Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle.
Mead AF, Wood NB, Nelson SR, Palmer BM, Yang L, Previs SB, Ploysangngam A, Kennedy GG, McAdow JF, Tremble SM, Zimmermann MA, Cipolla MJ, Ebert AM, Johnson AN, Gurnett CA, Previs MJ, Warshaw DM. Mead AF, et al. Among authors: gurnett ca. J Gen Physiol. 2024 Dec 2;156(12):e20241360411072024c. doi: 10.1085/jgp.20241360411072024c. Epub 2024 Nov 13. J Gen Physiol. 2024. PMID: 39535407 Free PMC article. No abstract available.
Functional role of myosin-binding protein H in thick filaments of developing vertebrate fast-twitch skeletal muscle.
Mead AF, Wood NB, Nelson SR, Palmer BM, Yang L, Previs SB, Ploysangngam A, Kennedy GG, McAdow JF, Tremble SM, Zimmermann MA, Cipolla MJ, Ebert AM, Johnson AN, Gurnett CA, Previs MJ, Warshaw DM. Mead AF, et al. Among authors: gurnett ca. J Gen Physiol. 2024 Dec 2;156(12):e202413604. doi: 10.1085/jgp.202413604. Epub 2024 Oct 7. J Gen Physiol. 2024. PMID: 39373654
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.
Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing. Srivastava S, et al. Among authors: gurnett ca. Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002/ana.27045. Epub 2024 Sep 25. Ann Neurol. 2024. PMID: 39319594 Review.
139 results