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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. 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.
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: vuocolo b. 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.
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Genet Med. 2024 Jun;26(6):101102. doi: 10.1016/j.gim.2024.101102. Epub 2024 Feb 29. Genet Med. 2024. PMID: 38431799 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. 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.