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Human Mutation|September 29, 2021
A comprehensive molecular study identified 12 complementation groups with 56 novel FANC gene variants in Indian Fanconi anemia subjectsMerin George, Avani Solanki, Niranjan Chavan, et al.Human Mutation|May 5, 2022
Autosomal dominantly inherited myopathy likely caused by the TNNT1 variant p.(Asp65Ala)Tess Holling, Jasmin Lisfeld, Jessika Johannsen, et al.Human Mutation|May 5, 2022
Transcriptome analysis provides critical answers to the "variants of uncertain significance" conundrumMackenzie D Postel, Julie O Culver, Charité Ricker, et al.Human Mutation|July 23, 2022
Characterization of a possible founder synonymous variant in TECTA in multiple individuals with autosomal recessive hearing lossRobert Chen, Maria Alejandra Diaz-Miranda, Erfan Aref-Eshghi, et al.Human Mutation|April 21, 2022
uORF-introducing variants in the 5'UTR of the NIPBL gene as a cause of Cornelia de Lange syndromeJuliette Coursimault, Anne Rovelet-Lecrux, Kévin Cassinari, et al.Human Mutation|June 18, 2019
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenitaSuzanna G M Frints, Friederike Hennig, Roberto Colombo, et al.Human Mutation|June 19, 2019
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomaliesJehan Suleiman, Korbinian M Riedhammer, Timothy Jicinsky, et al.Human Mutation|June 30, 2019
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformationsCarmela Fusco, Massimiliano Copetti, Tommaso Mazza, et al.Human Mutation|July 9, 2019
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 diseaseEmily Gardner, Mitch Bailey, Angela Schulz, et al.Human Mutation|July 9, 2019
VIPdb, a genetic Variant Impact Predictor DatabaseZhiqiang Hu, Changhua Yu, Mabel Furutsuki, et al.Pageof 583