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Page 1
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
Hespe S, Waddell A, Asatryan B, Owens E, Thaxton C, Adduru ML, Anderson K, Brown EE, Hoffman-Andrews L, Jordan E, Josephs K, Mayers M, Peters S, Stafford F, Bagnall RD, Bronicki L, Callewaert B, Chahal CAA, James CA, Jarinova O, Landstrom AP, McNally EM, Murray B, Muiño-Mosquera L, Parikh V, Reuter C, Walsh R, Wayburn B, Ware JS, Ingles J. Hespe S, et al. Among authors: waddell a. medRxiv [Preprint]. 2024 Jul 31:2024.07.29.24311195. doi: 10.1101/2024.07.29.24311195. medRxiv. 2024. PMID: 39132495 Free PMC article. Preprint.
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: waddell a. Mol Genet Metab. 2024 Nov;143(3):108593. doi: 10.1016/j.ymgme.2024.108593. Epub 2024 Oct 12. Mol Genet Metab. 2024. PMID: 39426251
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: waddell a. medRxiv [Preprint]. 2024 Oct 20:2024.08.09.24311755. doi: 10.1101/2024.08.09.24311755. medRxiv. 2024. Update in: Mol Genet Metab. 2024 Nov;143(3):108593. doi: 10.1016/j.ymgme.2024.108593 PMID: 39211849 Free PMC article. Updated. Preprint.
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: waddell a. 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
Molecular heterogeneity in urothelial carcinoma and determinants of clinical benefit to PD-L1 blockade.
Hamidi H, Senbabaoglu Y, Beig N, Roels J, Manuel C, Guan X, Koeppen H, Assaf ZJ, Nabet BY, Waddell A, Yuen K, Maund S, Sokol E, Giltnane JM, Schedlbauer A, Fuentes E, Cowan JD, Kadel EE 3rd, Degaonkar V, Andreev-Drakhlin A, Williams P, Carter C, Gupta S, Steinberg E, Loriot Y, Bellmunt J, Grivas P, Rosenberg J, van der Heijden MS, Galsky MD, Powles T, Mariathasan S, Banchereau R. Hamidi H, et al. Among authors: waddell a. Cancer Cell. 2024 Dec 9;42(12):2098-2112.e4. doi: 10.1016/j.ccell.2024.10.016. Epub 2024 Nov 21. Cancer Cell. 2024. PMID: 39577421
207 results