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Page 1
Protecting Medical Autonomy in College Sports.
Lynch SA. Lynch SA. Sports Health. 2024 Nov-Dec;16(6):874. doi: 10.1177/19417381241289299. Sports Health. 2024. PMID: 39485302 No abstract available.
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Peron A, D'Arco F, Aldinger KA, Smith-Hicks C, Zweier C, Gradek GA, Bradbury K, Accogli A, Andersen EF, Au PYB, Battini R, Beleford D, Bird LM, Bouman A, Bruel AL, Busk ØL, Campeau PM, Capra V, Carlston C, Carmichael J, Chassevent A, Clayton-Smith J, Bamshad MJ, Earl DL, Faivre L, Philippe C, Ferreira P, Graul-Neumann L, Green MJ, Haffner D, Haldipur P, Hanna S, Houge G, Jones WD, Kraus C, Kristiansen BE, Lespinasse J, Low KJ, Lynch SA, Maia S, Mao R, Kalinauskiene R, Melver C, McDonald K, Montgomery T, Morleo M, Motter C, Openshaw AS, Palumbos JC, Parikh AS, Perilla-Young Y, Powell CM, Person R, Desai M, Piard J, Pfundt R, Scala M, Serey-Gaut M, Shears D, Slavotinek A, Suri M, Turner C, Tvrdik T, Weiss K, Wentzensen IM, Zollino M, Hsieh TC; C4RCD Research Group; Telethon Undiagnosed Disease Program (TUDP); University of Washington Center for Mendelian Genomics (UW-CMG); de Vries BBA, Guillemot F, Dobyns WB, Viskochil D, Dias C. Peron A, et al. Among authors: lynch sa. Eur J Hum Genet. 2024 Oct 24. doi: 10.1038/s41431-024-01701-z. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39448799
Addressing diagnostic gaps and priorities of the global rare diseases community: Recommendations from the IRDiRC diagnostics scientific committee.
Adams DR, van Karnebeek CDM, Agulló SB, Faùndes V, Jamuar SS, Lynch SA, Pintos-Morell G, Puri RD, Shai R, Steward CA, Tumiene B, Verloes A; members of the IRDiRC Diagnostic Scientific Committee. Adams DR, et al. Among authors: lynch sa. Eur J Med Genet. 2024 Aug;70:104951. doi: 10.1016/j.ejmg.2024.104951. Epub 2024 Jun 6. Eur J Med Genet. 2024. PMID: 38848991 Free article.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Paulet A, Bennett-Ness C, Ageorges F, Trost D, Green A, Goudie D, Jewell R, Kraatari-Tiri M, Piard J, Coubes C, Lam W, Lynch SA, Groeschel S, Ramond F, Fluss J, Fagerberg C, Brasch Andersen C, Varvagiannis K, Kleefstra T, Gérard B, Fradin M, Vitobello A, Tenconi R, Denommé-Pichon AS, Vincent-Devulder A, Haack T, Marsh JA, Laulund LW, Grimmel M, Riess A, de Boer E, Padilla-Lopez S, Bakhtiari S, Ostendorf A, Zweier C, Smol T, Willems M, Faivre L, Scala M, Striano P, Bagnasco I, Koboldt D, Iascone M, Suerink M, Kruer MC, Levy J, Verloes A, Abbott CM, Ruaud L. Paulet A, et al. Among authors: lynch sa. Eur J Hum Genet. 2024 Sep;32(9):1191. doi: 10.1038/s41431-024-01606-x. Eur J Hum Genet. 2024. PMID: 38565641 Free article. No abstract available.
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.
Haghshenas S, Bout HJ, Schijns JM, Levy MA, Kerkhof J, Bhai P, McConkey H, Jenkins ZA, Williams EM, Halliday BJ, Huisman SA, Lauffer P, de Waard V, Witteveen L, Banka S, Brady AF, Galazzi E, van Gils J, Hurst ACE, Kaiser FJ, Lacombe D, Martinez-Monseny AF, Fergelot P, Monteiro FP, Parenti I, Persani L, Santos-Simarro F, Simpson BN; MKHK Research Consortium; Alders M, Robertson SP, Sadikovic B, Menke LA. Haghshenas S, et al. HGG Adv. 2024 Jul 18;5(3):100287. doi: 10.1016/j.xhgg.2024.100287. Epub 2024 Mar 29. HGG Adv. 2024. PMID: 38553851 Free PMC article.
328 results