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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: clarke l. 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
A development and implementation of a preconception counseling program for black women and men in the southeastern United States: a pilot protocol.
Hernandez-Green N, Haiman MD, McDonald A, Rollins L, Farinu OTO, Clarke LS, Huebshmann A, Fort MP, Chandler RD, Brocke P, McLaurin-Glass D, Harris E, Berry K, Suarez A, Williams T, Franklin CG. Hernandez-Green N, et al. Among authors: clarke ls. Front Public Health. 2024 Sep 25;12:1416586. doi: 10.3389/fpubh.2024.1416586. eCollection 2024. Front Public Health. 2024. PMID: 39386958 Free PMC article.
Developing a scoring system for gene curation prioritization in lysosomal diseases.
Vernet Machado Bressan Wilke M, Goldstein J, Groopman E, Mohan S, Waddell A, Fernandez R, Chen H, Bali D, Baudet H, Clarke L, Hung C, Mao R, Yuzyuk T, Craigen WJ, Pinto E Vairo F. Vernet Machado Bressan Wilke M, et al. Among authors: clarke l. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108572. doi: 10.1016/j.ymgme.2024.108572. Epub 2024 Sep 5. Mol Genet Metab. 2024. PMID: 39265286
1,459 results