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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: martin e. 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.
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
Wong WK, Troedson C, Dale RC, Roscioli T, Field M, Palmer E, Martin EM, Kumar KR, Mohammad SS. Wong WK, et al. Among authors: martin em. Mov Disord Clin Pract. 2022 Sep 11;9(Suppl 2):S32-S35. doi: 10.1002/mdc3.13538. eCollection 2022 Sep. Mov Disord Clin Pract. 2022. PMID: 36110148 Free PMC article. No abstract available.
Investigation of current models of care for genetic heart disease in Australia: A national clinical audit.
Austin R, Quinn MCJ, Afoakwah C, Metke-Jimenez A, Leroux H, Atherton J, Brown JS, Wornham LJ, Macciocca I, de Silva MG, Thompson T, Martin EM, Hilton D, Devery S, Wu KHC, Jackson MR, Correnti G, Overkov A, Elbracht-Leong S, Ingles J, Scuffham P, Semsarian C, McGaughran J. Austin R, et al. Int J Cardiol. 2021 May 1;330:128-134. doi: 10.1016/j.ijcard.2021.02.010. Epub 2021 Feb 11. Int J Cardiol. 2021. PMID: 33581180 Free article.
Characteristics and outcomes of COVID-19 patients admitted to hospital with and without respiratory symptoms.
Citarella BW, Kartsonaki C, Ibáñez-Prada ED, Gonçalves BP, Baruch J, Escher M, Pritchard MG, Wei J, Philippy F, Dagens A, Hall M, Lee J, Kutsogiannis DJ, Wils EJ, Fernandes MA, Tirupakuzhi Vijayaraghavan BK, Panda PK, Martin-Loeches I, Ohshimo S, Fatoni AZ, Horby P, Dunning J, Rello J, Merson L, Rojek A, Vaillant M, Olliaro P, Reyes LF; ISARIC Clinical Characterisation Group. Citarella BW, et al. Heliyon. 2024 May 4;10(10):e29591. doi: 10.1016/j.heliyon.2024.e29591. eCollection 2024 May 30. Heliyon. 2024. PMID: 38779000 Free PMC article.
6,140 results