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Human Mutation|October 25, 2021
Utilizing ClinGen gene-disease validity and dosage sensitivity curations to inform variant classificationCourtney Thaxton, Molly E Good, Marina T DiStefano, et al.
Human Mutation|September 24, 2021
Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspectiveHuahua Zhong, Meng Yu, Pengfei Lin, et al.
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.
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