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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
Chopra M, McEntagart M, Clayton-Smith J, Platzer K, Shukla A, Girisha KM, Kaur A, Kaur P, Pfundt R, Veenstra-Knol H, Mancini GMS, Cappuccio G, Brunetti-Pierri N, Kortüm F, Hempel M, Denecke J, Lehman A; CAUSES Study; Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer MJV, Peeters-Scholte C, Slavotinek A, Weiss WA, Yip T, Hodoglugil U, Whittle A, diMonda J, Neira J, Yang S, Kirby A, Pinz H, Lechner R, Sleutels F, Helbig I, McKeown S, Helbig K, Willaert R, Juusola J, Semotok J, Hadonou M, Short J; Genomics England Research Consortium; Yachelevich N, Lala S, Fernández-Jaen A, Pelayo JP, Klöckner C, Kamphausen SB, Abou Jamra R, Arelin M, Innes AM, Niskakoski A, Amin S, Williams M, Evans J, Smithson S, Smedley D, de Burca A, Kini U, Delatycki MB, Gallacher L, Yeung A, Pais L, Field M, Martin E, Charles P, Courtin T, Keren B, Iascone M, Cereda A, Poke G, Abadie V, Chalouhi C, Parthasarathy P, Halliday BJ, Robertson SP, Lyonnet S, Amiel J, Gordon CT. Chopra M, et al. Among authors: mckeown s. Am J Hum Genet. 2021 Jun 3;108(6):1138-1150. doi: 10.1016/j.ajhg.2021.04.007. Epub 2021 Apr 27. Am J Hum Genet. 2021. PMID: 33909992 Free PMC article.
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A; NCEE Study Group; EPGP Investigators; EuroEPINOMICS-RES Consortium; Genomics Research and Innovation Network; Thomas RH, Krause R, Weber Y, Helbig I. Galer PD, et al. Among authors: mckeown se. Am J Hum Genet. 2020 Oct 1;107(4):683-697. doi: 10.1016/j.ajhg.2020.08.003. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853554 Free PMC article.
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Cousin MA, Creighton BA, Breau KA, Spillmann RC, Torti E, Dontu S, Tripathi S, Ajit D, Edwards RJ, Afriyie S, Bay JC, Harper KM, Beltran AA, Munoz LJ, Falcon Rodriguez L, Stankewich MC, Person RE, Si Y, Normand EA, Blevins A, May AS, Bier L, Aggarwal V, Mancini GMS, van Slegtenhorst MA, Cremer K, Becker J, Engels H, Aretz S, MacKenzie JJ, Brilstra E, van Gassen KLI, van Jaarsveld RH, Oegema R, Parsons GM, Mark P, Helbig I, McKeown SE, Stratton R, Cogne B, Isidor B, Cacheiro P, Smedley D, Firth HV, Bierhals T, Kloth K, Weiss D, Fairley C, Shieh JT, Kritzer A, Jayakar P, Kurtz-Nelson E, Bernier RA, Wang T, Eichler EE, van de Laar IMBH, McConkie-Rosell A, McDonald MT, Kemppainen J, Lanpher BC, Schultz-Rogers LE, Gunderson LB, Pichurin PN, Yoon G, Zech M, Jech R, Winkelmann J; Undiagnosed Diseases Network; Genomics England Research Consortium; Beltran AS, Zimmermann MT, Temple B, Moy SS, Klee EW, Tan QK, Lorenzo DN. Cousin MA, et al. Among authors: mckeown se. Nat Genet. 2021 Jul;53(7):1006-1021. doi: 10.1038/s41588-021-00886-z. Epub 2021 Jul 1. Nat Genet. 2021. PMID: 34211179 Free PMC article.
Phenotypic homogeneity in childhood epilepsies evolves in gene-specific patterns across 3251 patient-years of clinical data.
Lewis-Smith D, Ganesan S, Galer PD, Helbig KL, McKeown SE, O'Brien M, Khankhanian P, Kaufman MC, Gonzalez AK, Felmeister AS, Krause R, Ellis CA, Helbig I. Lewis-Smith D, et al. Among authors: mckeown se. Eur J Hum Genet. 2021 Nov;29(11):1690-1700. doi: 10.1038/s41431-021-00908-8. Epub 2021 May 24. Eur J Hum Genet. 2021. PMID: 34031551 Free PMC article.
Degos disease: A rare disease with a fatal outcome.
Alonso JV, McKeown S, Montoro E. Alonso JV, et al. Among authors: mckeown s. Med Clin (Barc). 2024 Apr 30:S0025-7753(24)00195-7. doi: 10.1016/j.medcli.2024.01.047. Online ahead of print. Med Clin (Barc). 2024. PMID: 38692989 English, Spanish. No abstract available.
236 results