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Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
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.
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.
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.
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A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S, Galer PD, Helbig KL, McKeown SE, O'Brien M, Gonzalez AK, Felmeister AS, Khankhanian P, Ellis CA, Helbig I.
Ganesan S, et al. Among authors: mckeown se.
Genet Med. 2020 Dec;22(12):2060-2070. doi: 10.1038/s41436-020-0923-1. Epub 2020 Aug 10.
Genet Med. 2020.
PMID: 32773773
Free PMC article.
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Correction: A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S, Galer PD, Helbig KL, McKeown SE, O'Brien M, Gonzalez AK, Felmeister AS, Khankhanian P, Ellis CA, Helbig I.
Ganesan S, et al. Among authors: mckeown se.
Genet Med. 2020 Nov;22(11):1921-1922. doi: 10.1038/s41436-020-00953-6.
Genet Med. 2020.
PMID: 32887940
Free PMC article.
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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.
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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.
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Impact of exercise and a complex environment on hippocampal dendritic morphology, Bdnf gene expression, and DNA methylation in male rat pups neonatally exposed to alcohol.
Boschen KE, McKeown SE, Roth TL, Klintsova AY.
Boschen KE, et al. Among authors: mckeown se.
Dev Neurobiol. 2017 Jun;77(6):708-725. doi: 10.1002/dneu.22448. Epub 2016 Sep 21.
Dev Neurobiol. 2017.
PMID: 27597545
Free PMC article.
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