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86 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.
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder.
Niggl E, Bouman A, Briere LC, Hoogenboezem RM, Wallaard I, Park J, Admard J, Wilke M, Harris-Mostert EDRO, Elgersma M, Bain J, Balasubramanian M, Banka S, Benke PJ, Bertrand M, Blesson AE, Clayton-Smith J, Ellingford JM, Gillentine MA, Goodloe DH, Haack TB, Jain M, Krantz I, Luu SM, McPheron M, Muss CL, Raible SE, Robin NH, Spiller M, Starling S, Sweetser DA, Thiffault I, Vetrini F, Witt D, Woods E, Zhou D; Genomics England Research Consortium; Undiagnosed Diseases Network; Elgersma Y, van Esbroeck ACM. Niggl E, et al. Among authors: bain j. Am J Hum Genet. 2023 Aug 3;110(8):1414-1435. doi: 10.1016/j.ajhg.2023.07.005. Am J Hum Genet. 2023. PMID: 37541189 Free PMC article.
Heterogeneity of comprehensive clinical phenotype and longitudinal adaptive function and correlation with computational predictions of severity of missense genotypes in KIF1A-associated neurological disorder.
Sudnawa KK, Li W, Calamia S, Kanner CH, Bain JM, Abdelhakim AH, Geltzeiler A, Mebane CM, Provenzano FA, Sands TT, Fee RJ, Montes J, Shen Y, Chung WK. Sudnawa KK, et al. Among authors: bain jm. Genet Med. 2024 May 20:101169. doi: 10.1016/j.gim.2024.101169. Online ahead of print. Genet Med. 2024. PMID: 38785164
A CO2 sensing module modulates β-1,3-glucan exposure in Candida albicans.
Avelar GM, Pradhan A, Ma Q, Hickey E, Leaves I, Liddle C, Rodriguez Rondon AV, Kaune A-K, Shaw S, Maufrais C, Sertour N, Bain JM, Larcombe DE, de Assis LJ, Netea MG, Munro CA, Childers DS, Erwig LP, Brown GD, Gow NAR, Bougnoux M-E, d'Enfert C, Brown AJP. Avelar GM, et al. Among authors: bain jm. mBio. 2024 Feb 14;15(2):e0189823. doi: 10.1128/mbio.01898-23. Epub 2024 Jan 23. mBio. 2024. PMID: 38259065 Free PMC article.
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Sudnawa KK, Garber A, Cohen R, Calamia S, Kanner CH, Montes J, Bain JM, Fee RJ, Chung WK. Sudnawa KK, et al. Among authors: bain jm. Clin Genet. 2024 May;105(5):523-532. doi: 10.1111/cge.14487. Epub 2024 Jan 21. Clin Genet. 2024. PMID: 38247296
Glucose-enhanced oxidative stress resistance-A protective anticipatory response that enhances the fitness of Candida albicans during systemic infection.
Larcombe DE, Bohovych IM, Pradhan A, Ma Q, Hickey E, Leaves I, Cameron G, Avelar GM, de Assis LJ, Childers DS, Bain JM, Lagree K, Mitchell AP, Netea MG, Erwig LP, Gow NAR, Brown AJP. Larcombe DE, et al. Among authors: bain jm. PLoS Pathog. 2023 Jul 10;19(7):e1011505. doi: 10.1371/journal.ppat.1011505. eCollection 2023 Jul. PLoS Pathog. 2023. PMID: 37428810 Free PMC article.
86 results