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Year Number of Results
1993 1
2005 1
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2010 1
2011 1
2012 3
2013 2
2014 4
2015 3
2016 4
2017 4
2018 2
2019 4
2020 8
2021 6
2022 1
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2026 0

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54 results

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Page 1
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.
Juliá-Palacios N, Muñoz-Pujol G, Maroofian R, Bertoli-Avella AM, Gómez-Chiari M, Muchart-López J, Paredes-Fuentes AJ, O'Callaghan M, Machado-Casas IS, Cristian I, Morrison J, Garcia-Cazorla A, Codina A, Miryounesi M, Zonic E, Bauer P, Cheema H, Anjum MN, Al-Sannaa N, Abd Elmaksoud M, Ababneh F, Alijanpour S, Tonekaboni SH, Fayazi A, Urbaniak M, Barba U, Hoenicka J, Palau F, Houlden H, Ortigoza-Escobar JD, Ribes A, Santos-Ocaña C, Tyler M, Gaffney P, Carroll CJ, Tort F, Wierenga KJ, Webb BD, Artuch R, Baide-Mairena H, Urreizti R. Juliá-Palacios N, et al. Among authors: webb bd. Brain Commun. 2025 Sep 23;7(5):fcaf348. doi: 10.1093/braincomms/fcaf348. eCollection 2025. Brain Commun. 2025. PMID: 41040850 Free PMC article.
Systematic phenotype and genotype characterization of Moebius syndrome.
Webb BD, Jurgens JA, Narisu N, Zhang Z, Barry BJ, Van Ryzin C, Bonnycastle LL, Chan WM, Yan T, Di Gioia SA, Swift AJ, MacKinnon SE, Oystreck DT, Rucker JC, Frempong T, Whitman MC, FitzGibbon EJ, Lee JS, Hao K, Andrews C, Erazo M, Facio FM, Shaaban S, Naidich TP, Chines PS, Lehky TJ, Toro C, Gropman AL, Butman JA, Zalewski CK, Brewer CC, Thurm A, Snow J, Paul SM, Brooks BP, Pierpaoli C, Robson CD, Hunter DG, Collins FS, Jabs EW, Engle EC, Manoli I. Webb BD, et al. Genet Med Open. 2025 May 19;3:103437. doi: 10.1016/j.gimo.2025.103437. eCollection 2025. Genet Med Open. 2025. PMID: 40662098 Free PMC article.
Multimodality Craniofacial Phenotyping of Congenital Facial Weakness Disorders.
Almpani K, Devine KR, Liberton DK, Mishra R, Bassim C, Van Ryzin C, Facio FM, Webb BD, Barry BJ, Engle EC, Wang Jabs E, Collins FS, Manoli I, Lee JS; Moebius Syndrome Research Consortium. Almpani K, et al. Among authors: webb bd. Cleft Palate Craniofac J. 2025 Jul 3:10556656251344128. doi: 10.1177/10556656251344128. Online ahead of print. Cleft Palate Craniofac J. 2025. PMID: 40611650
Data-driven consideration of genetic disorders for global genomic newborn screening programs.
Minten T, Bick S, Adelson S, Gehlenborg N, Amendola LM, Boemer F, Coffey AJ, Encina N, Ferlini A, Kirschner J, Russell BE, Servais L, Sund KL, Taft RJ, Tsipouras P, Zouk H; ICoNS Gene List Contributors; Bick D; International Consortium on Newborn Sequencing (ICoNS); Green RC, Gold NB. Minten T, et al. Genet Med. 2025 Jul;27(7):101443. doi: 10.1016/j.gim.2025.101443. Epub 2025 May 9. Genet Med. 2025. PMID: 40357684 Free article.
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.
Zerafati-Jahromi G, Oxman E, Hoang HD, Charng WL, Kotla T, Yuan W, Ishibashi K, Sebaoui S, Luedtke K, Winrow B, Ganetzky RD, Ruiz A, Manso-Basúz C, Spataro N, Kannu P, Athey T, Peroutka C, Barnes C, Sidlow R, Anadiotis G, Magnussen K, Valenzuela I, Moles-Fernandez A, Berger S, Grant CL, Vilain E, Arnadottir GA, Sulem P, Sulem TS, Stefansson K, Massey S, Ginn N, Poduri A, D'Gama AM, Valentine R, Trowbridge SK, Murali CN, Franciskovich R, Tran Y, Webb BD, Keppler-Noreuil KM, Hall AL, McGivern B, Monaghan KG, Guillen Sacoto MJ, Baldridge D, Silverman GA, Dahiya S, Turner TN, Schedl T, Corbin JG, Pak SC, Zohn IE, Gurnett CA. Zerafati-Jahromi G, et al. Among authors: webb bd. Am J Hum Genet. 2025 Mar 6;112(3):537-553. doi: 10.1016/j.ajhg.2025.01.001. Epub 2025 Jan 28. Am J Hum Genet. 2025. PMID: 39879987 Free PMC article.
Oral Health-Related Quality of Life in Rare Disorders of Congenital Facial Weakness.
Liberton DK, Almpani K, Mishra R, Bassim C, Van Ryzin C, On Behalf Of The Moebius Syndrome Research Consortium, Webb BD, Jabs EW, Engle EC, Collins FS, Manoli I, Lee JS. Liberton DK, et al. Among authors: webb bd. Int J Environ Res Public Health. 2024 May 13;21(5):615. doi: 10.3390/ijerph21050615. Int J Environ Res Public Health. 2024. PMID: 38791829 Free PMC article.
An algorithm to identify patients aged 0-3 with rare genetic disorders.
Webb BD, Lau LY, Tsevdos D, Shewcraft RA, Corrigan D, Shi L, Lee S, Tyler J, Li S, Wang Z, Stolovitzky G, Edelmann L, Chen R, Schadt EE, Li L. Webb BD, et al. Orphanet J Rare Dis. 2024 May 2;19(1):183. doi: 10.1186/s13023-024-03188-9. Orphanet J Rare Dis. 2024. PMID: 38698482 Free PMC article.
54 results