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633 results

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Page 1
Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Barbosa S, Greville-Heygate S, Bonnet M, Godwin A, Fagotto-Kaufmann C, Kajava AV, Laouteouet D, Mawby R, Wai HA, Dingemans AJM, Hehir-Kwa J, Willems M, Capri Y, Mehta SG, Cox H, Goudie D, Vansenne F, Turnpenny P, Vincent M, Cogné B, Lesca G, Hertecant J, Rodriguez D, Keren B, Burglen L, Gérard M, Putoux A; C4RCD Research Group; Cantagrel V, Siquier-Pernet K, Rio M, Banka S, Sarkar A, Steeves M, Parker M, Clement E, Moutton S, Tran Mau-Them F, Piton A, de Vries BBA, Guille M, Debant A, Schmidt S, Baralle D. Barbosa S, et al. Among authors: godwin a. Am J Hum Genet. 2020 Mar 5;106(3):338-355. doi: 10.1016/j.ajhg.2020.01.018. Epub 2020 Feb 27. Am J Hum Genet. 2020. PMID: 32109419 Free PMC article.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Macken WL, Godwin A, Wheway G, Stals K, Nazlamova L, Ellard S, Alfares A, Aloraini T, AlSubaie L, Alfadhel M, Alajaji S, Wai HA, Self J, Douglas AGL, Kao AP, Guille M, Baralle D. Macken WL, et al. Among authors: godwin a. Genome Med. 2021 Feb 25;13(1):34. doi: 10.1186/s13073-021-00850-w. Genome Med. 2021. PMID: 33632302 Free PMC article.
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome.
Ismail V, Zachariassen LG, Godwin A, Sahakian M, Ellard S, Stals KL, Baple E, Brown KT, Foulds N, Wheway G, Parker MO, Lyngby SM, Pedersen MG, Desir J, Bayat A, Musgaard M, Guille M, Kristensen AS, Baralle D. Ismail V, et al. Among authors: godwin a. Am J Hum Genet. 2022 Jul 7;109(7):1217-1241. doi: 10.1016/j.ajhg.2022.05.009. Epub 2022 Jun 7. Am J Hum Genet. 2022. PMID: 35675825 Free PMC article.
Ovarian tumor cells gain competitive advantage by actively reducing the cellular fitness of microenvironment cells.
Madan E, Palma AM, Vudatha V, Kumar A, Bhoopathi P, Wilhelm J, Bernas T, Martin PC, Bilolikar G, Gogna A, Peixoto ML, Dreier I, Araujo TF, Garre E, Gustafsson A, Dorayappan KDP, Mamidi N, Sun Z, Yekelchyk M, Accardi D, Olsen AL, Lin L, Titelman AA, Bianchi M, Jessmon P, Farid EA, Pradhan AK, Neufeld L, Yeini E, Maji S, Pelham CJ, Kim H, Oh D, Rolfsnes HO, Marques RC, Lu A, Nagane M, Chaudhary S, Gupta K, Gogna KC, Bigio A, Bhoopathi K, Mannangatti P, Achary KG, Akhtar J, Belião S, Das S, Correia I, da Silva CL, Fialho AM, Poellmann MJ, Javius-Jones K, Hawkridge AM, Pal S, Shree KS, Rakha EA, Khurana S, Xiao G, Zhang D, Rijal A, Lyons C, Grossman SR, Turner DP, Pillappa R, Prakash K, Gupta G, Robinson GLWG, Koblinski J, Wang H, Singh G, Singh S, Rayamajhi S, Bacolod MD, Richards H, Sayeed S, Klein KP, Chelmow D, Satchi-Fainaro R, Selvendiran K, Connolly D, Thorsen FA, Bjerkvig R, Nephew KP, Idowu MO, Kühnel MP, Moskaluk C, Hong S, Redmond WL, Landberg G, Lopez-Beltran A, Poklepovic AS, Sanyal A, Fisher PB, Church GM, Menon U, Drapkin R, Godwin AK, Luo Y, Ackermann M, Tzankov A, Mertz KD, Jonigk D, Tsung A, Sidransky D, Trevino J, Saavedra AP, Winn R, Won KJ, Moreno E, Gogna … See abstract for full author list ➔ Madan E, et al. Among authors: godwin ak. Nat Biotechnol. 2024 Dec 9. doi: 10.1038/s41587-024-02453-3. Online ahead of print. Nat Biotechnol. 2024. PMID: 39653752
Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
Seaby EG, Godwin A, Meyer-Dilhet G, Clerc V, Grand X, Fletcher T, Monteiro L, Kerkhofs M, Carelli V, Palombo F, Seri M, Olivucci G, Grippa M, Ciaccio C, D'Arrigo S, Iascone M, Bermudez M, Fischer J, Di Donato N, Goesswein S, Leung ML, Koboldt DC, Myers C, Arnadottir GA, Stefansson K, Sulem P, Goldberg EM, Bruel AL, Tran Mau Them F, Willems M, Bjornsson HT, Hognason HB, Thorolfsdottir ET, Agolini E, Novelli A, Zampino G, Onesimo R, Lachlan K, Baralle D, Rehm HL, O'Donnell-Luria A, Courchet J, Guille M, Bourgeois CF, Ennis S. Seaby EG, et al. Among authors: godwin a. Brain. 2024 Oct 15:awae320. doi: 10.1093/brain/awae320. Online ahead of print. Brain. 2024. PMID: 39405200
633 results