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Year Number of Results
1951 1
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1969 1
1972 1
1976 1
1977 2
1978 1
1982 1
2001 1
2004 1
2005 1
2007 3
2008 1
2010 3
2011 1
2012 5
2013 4
2014 5
2015 5
2016 4
2017 3
2018 3
2019 2
2020 10
2021 9
2022 10
2023 12
2024 9
2025 5

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95 results

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Page 1
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.
Gehin C, Lone MA, Lee W, Capolupo L, Ho S, Adeyemi AM, Gerkes EH, Stegmann AP, López-Martín E, Bermejo-Sánchez E, Martínez-Delgado B, Zweier C, Kraus C, Popp B, Strehlow V, Gräfe D, Knerr I, Jones ER, Zamuner S, Abriata LA, Kunnathully V, Moeller BE, Vocat A, Rommelaere S, Bocquete JP, Ruchti E, Limoni G, Van Campenhoudt M, Bourgeat S, Henklein P, Gilissen C, van Bon BW, Pfundt R, Willemsen MH, Schieving JH, Leonardi E, Soli F, Murgia A, Guo H, Zhang Q, Xia K, Fagerberg CR, Beier CP, Larsen MJ, Valenzuela I, Fernández-Álvarez P, Xiong S, Śmigiel R, López-González V, Armengol L, Morleo M, Selicorni A, Torella A, Blyth M, Cooper NS, Wilson V, Oegema R, Herenger Y, Garde A, Bruel AL, Tran Mau-Them F, Maddocks AB, Bain JM, Bhat MA, Costain G, Kannu P, Marwaha A, Champaigne NL, Friez MJ, Richardson EB, Gowda VK, Srinivasan VM, Gupta Y, Lim TY, Sanna-Cherchi S, Lemaitre B, Yamaji T, Hanada K, Burke JE, Jakšić AM, McCabe BD, De Los Rios P, Hornemann T, D'Angelo G, Gennarino VA. Gehin C, et al. Among authors: bain jm. J Clin Invest. 2023 May 15;133(10):e165019. doi: 10.1172/JCI165019. J Clin Invest. 2023. PMID: 36976648 Free PMC article.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.
Palmer EE, Pusch M, Picollo A, Forwood C, Nguyen MH, Suckow V, Gibbons J, Hoff A, Sigfrid L, Megarbane A, Nizon M, Cogné B, Beneteau C, Alkuraya FS, Chedrawi A, Hashem MO, Stamberger H, Weckhuysen S, Vanlander A, Ceulemans B, Rajagopalan S, Nunn K, Arpin S, Raynaud M, Motter CS, Ward-Melver C, Janssens K, Meuwissen M, Beysen D, Dikow N, Grimmel M, Haack TB, Clement E, McTague A, Hunt D, Townshend S, Ward M, Richards LJ, Simons C, Costain G, Dupuis L, Mendoza-Londono R, Dudding-Byth T, Boyle J, Saunders C, Fleming E, El Chehadeh S, Spitz MA, Piton A, Gerard B, Abi Warde MT, Rea G, McKenna C, Douzgou S, Banka S, Akman C, Bain JM, Sands TT, Wilson GN, Silvertooth EJ, Miller L, Lederer D, Sachdev R, Macintosh R, Monestier O, Karadurmus D, Collins F, Carter M, Rohena L, Willemsen MH, Ockeloen CW, Pfundt R, Kroft SD, Field M, Laranjeira FER, Fortuna AM, Soares AR, Michaud V, Naudion S, Golla S, Weaver DD, Bird LM, Friedman J, Clowes V, Joss S, Pölsler L, Campeau PM, Blazo M, Bijlsma EK, Rosenfeld JA, Beetz C, Powis Z, McWalter K, Brandt T, Torti E, Mathot M, Mohammad SS, Armstrong R, Kalscheuer VM. Palmer EE, et al. Among authors: bain jm. Mol Psychiatry. 2023 Feb;28(2):668-697. doi: 10.1038/s41380-022-01852-9. Epub 2022 Nov 16. Mol Psychiatry. 2023. PMID: 36385166 Free PMC article.
Motor phenotypes associated with genetic neurodevelopmental disorders.
Santana Almansa A, Snyder LG, Chung WK, Bain JM, Srivastava S. Santana Almansa A, et al. Among authors: bain jm. Ann Clin Transl Neurol. 2024 Dec;11(12):3238-3245. doi: 10.1002/acn3.52231. Epub 2024 Nov 2. Ann Clin Transl Neurol. 2024. PMID: 39487960 Free PMC article.
Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
McGee SR, Rajamanickam S, Adhikari S, Falayi OC, Wilson TA, Shayota BJ, Cooley Coleman JA, Skinner C, Caylor RC, Stevenson RE, Quaio CRAC, Wilke BC, Bain JM, Anyane-Yeboa K, Brown K, Greally JM, Bijlsma EK, Ruivenkamp CAL, Politi K, Arbogast LA, Collard MW, Huggenvik JI, Elsea SH, Jensik PJ. McGee SR, et al. Among authors: bain jm. Hum Mol Genet. 2023 Jan 13;32(3):386-401. doi: 10.1093/hmg/ddac200. Hum Mol Genet. 2023. PMID: 35981081 Free PMC article.
Positive Autism Screening Rates in Toddlers Born During the COVID-19 Pandemic.
Firestein MR, Manessis A, Warmingham JM, Xu R, Hu Y, Finkel MA, Kyle M, Hussain M, Ahmed I, Lavallée A, Solis A, Chaves V, Rodriguez C, Goldman S, Muhle RA, Lee S, Austin J, Silver WG, O'Reilly KC, Bain JM, Penn AA, Veenstra-VanderWeele J, Stockwell MS, Fifer WP, Marsh R, Monk C, Shuffrey LC, Dumitriu D. Firestein MR, et al. Among authors: bain jm. JAMA Netw Open. 2024 Sep 3;7(9):e2435005. doi: 10.1001/jamanetworkopen.2024.35005. JAMA Netw Open. 2024. PMID: 39312236 Free PMC article.
Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.
Hodgson AKO, Baxandall L, Aiyedun D, Li A, Au PYB, Bain JM, Gillentine MA, Goel H, Kline AD, Ricupero CL, Sánchez-Carpintero R, Seward EP, Sidlow R, Wilson SA, Balasubramanian M. Hodgson AKO, et al. Among authors: bain jm. Am J Med Genet A. 2025 Jun;197(6):e64013. doi: 10.1002/ajmg.a.64013. Epub 2025 Feb 20. Am J Med Genet A. 2025. PMID: 39976380 Free article. Review.
The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial.
Hipp JF, Bacino CA, Bird LM, Bruenig-Traebert I, Chan D, de Wit MC, Fontoura P, Hooper G, Jagasia R, Krishnan ML, Murtagh L, Noci A, Martínez AR, Schwab D, Serrano M, Shen MD, Tillmann J, Tjeertes J, Vincenzi B, Berry-Kravis E, Bonni A; Rugonersen Study Group; all TANGELO investigators. Hipp JF, et al. Nat Med. 2025 Sep;31(9):2936-2945. doi: 10.1038/s41591-025-03784-7. Epub 2025 Jul 11. Nat Med. 2025. PMID: 40646322 Clinical Trial.
95 results