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Clinical variants paired with phenotype: A rich resource for brain gene curation.
Genet Med. 2024 Mar;26(3):101035. doi: 10.1016/j.gim.2023.101035. Epub 2023 Dec 4.
Genet Med. 2024.
PMID: 38059438
Free PMC article.
Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels.
Riggs ER, Bingaman TI, Barry CA, Behlmann A, Bluske K, Bostwick B, Bright A, Chen CA, Clause AR, Dharmadhikari AV, Ganapathi M, Gonzaga-Jauregui C, Grant AR, Hughes MY, Kim SR, Krause A, Liao J, Lumaka A, Mah M, Maloney CM, Mohan S, Osei-Owusu IA, Reble E, Rennie O, Savatt JM, Shimelis H, Siegert RK, Sneddon TP, Thaxton C, Toner KA, Tran KT, Webb R, Wilcox EH, Yin J, Zhuo X, Znidarsic M, Martin CL, Betancur C, Vorstman JAS, Miller DT, Schaaf CP.
Riggs ER, et al. Among authors: bingaman ti.
Genet Med. 2022 Sep;24(9):1899-1908. doi: 10.1016/j.gim.2022.05.001. Epub 2022 May 26.
Genet Med. 2022.
PMID: 35616647
Free PMC article.
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