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LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder.
Chettle J, Louie RJ, Larner O, Best R, Chen K, Morris J, Dedeic Z, Childers A, Rogers RC, DuPont BR, Skinner C, Küry S, Uguen K, Planes M, Monteil D, Li M, Eliyahu A, Greenbaum L, Mor N, Besnard T, Isidor B, Cogné B, Blesson A, Comi A, Wentzensen IM, Vuocolo B, Lalani SR, Sierra R, Berry L, Carter K, Sanders SJ, Blagden SP. Chettle J, et al. Among authors: berry l. HGG Adv. 2024 Oct 10;5(4):100345. doi: 10.1016/j.xhgg.2024.100345. Epub 2024 Aug 30. HGG Adv. 2024. PMID: 39182167 Free PMC article.
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful Engagement.
Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Berry L, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Vuocolo B, et al. Among authors: berry l. Res Sq [Preprint]. 2023 Dec 13:rs.3.rs-3699740. doi: 10.21203/rs.3.rs-3699740/v1. Res Sq. 2023. Update in: J Neurodev Disord. 2024 Sep 9;16(1):52. doi: 10.1186/s11689-024-09560-x PMID: 38168160 Free PMC article. Updated. Preprint.
Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of Texas.
Vuocolo B, Sierra R, Brooks D, Holder C, Urbanski L, Rodriguez K, Gamez JD, Mulukutla SN, Hernandez A, Allegre A, Hidalgo H, Rodriguez S, Magallan S, Gibson J, Bernini JC, Watson M, Nelson R, Mellin-Sanchez L, Garcia N, Berry L, Dai H, Soler-Alfonso C, Carter K, Lee B, Lalani SR. Vuocolo B, et al. Among authors: berry l. J Neurodev Disord. 2024 Sep 9;16(1):52. doi: 10.1186/s11689-024-09560-x. J Neurodev Disord. 2024. PMID: 39251895 Free PMC article.
"Relative Value Units" Belie Real Value.
Lee Adawi Awdish R, Berry LL, Bosslet GT. Lee Adawi Awdish R, et al. Among authors: berry ll. Chest. 2024 Sep;166(3):579-581. doi: 10.1016/j.chest.2024.04.009. Chest. 2024. PMID: 39260946 No abstract available.
888 results