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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.
Telemedicine: Does it have a place in surgical oncology practice?
Kelley JK, Kelly KA, Rechner S, Brown H, Kim S, Spencer S, Martin E, Reed C, Wright GP, Assifi MM, Chung M. Kelley JK, et al. Among authors: martin e. J Telemed Telecare. 2024 May 16:1357633X241251522. doi: 10.1177/1357633X241251522. Online ahead of print. J Telemed Telecare. 2024. PMID: 38751377
Dynamic measurements of geographical accessibility considering traffic congestion using open data: a cross-sectional assessment for haemodialysis services in Cali, Colombia.
Cuervo LG, Villamizar CJ, Osorio L, Ospina MB, Cuervo DE, Cuervo D, Bula MO, Zapata P, Owens NJ, Hatcher-Roberts J, Martín EA, Piquero F, Pinilla LF, Martínez-Herrera E, Jaramillo C; AMORE Project Collaboration. Cuervo LG, et al. Among authors: martin ea. Lancet Reg Health Am. 2024 May 3;34:100752. doi: 10.1016/j.lana.2024.100752. eCollection 2024 Jun. Lancet Reg Health Am. 2024. PMID: 38737772 Free PMC article.
6,133 results