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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: mao r. 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
Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework.
Groopman E, Mohan S, Waddell A, Wilke M, Fernandez R, Weaver M, Chen H, Liu H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Pinto E Vairo F, Racacho L, Yuzyuk T, Craigen WJ, Goldstein J. Groopman E, et al. Among authors: mao r. Mol Genet Metab. 2024 Oct 12;143(3):108593. doi: 10.1016/j.ymgme.2024.108593. Online ahead of print. Mol Genet Metab. 2024. PMID: 39426251
ABCG Transporters in the Adaptation of Rice to Salt Stresses.
Zhang D, Hu Y, Tang L, Du Y, Mao R, Sheng X, Liu H, Liu X, Zhao B, Lei D. Zhang D, et al. Among authors: mao r. Int J Mol Sci. 2024 Oct 5;25(19):10724. doi: 10.3390/ijms251910724. Int J Mol Sci. 2024. PMID: 39409055 Free PMC article.
1,733 results