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Human Mutation|February 5, 2019
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfectaLulu Li, Bin Mao, Shan Li, et al.
Human Mutation|January 5, 2019
Spectrum of SLC20A2, PDGFRB, PDGFB, and XPR1 mutations in a large cohort of patients with primary familial brain calcificationXin-Xin Guo, Xiao-Huan Zou, Chong Wang, et al.
Human Mutation|March 15, 2018
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversionLishuang Shen, Marcella Attimonelli, Renkui Bai, et al.
Human Mutation|January 18, 2019
Analysis of MUTYH alternative transcript expression, promoter function, and the effect of human genetic variantsNicole Köger, Angela Brieger, Inga M Hinrichsen, et al.
Human Mutation|September 9, 2020
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonateLauren S Akesson, Adam Bournazos, Andrew Fennell, et al.
Human Mutation|September 9, 2020
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in IndiaAnkita Narang, Bharathram Uppilli, Asokachandran Vivekanand, et al.
Human Mutation|September 9, 2020
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretationElizabeth M McCormick, Marie T Lott, Matthew C Dulik, et al.
Human Mutation|September 17, 2020
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish modelSungkook Hong, Ping Hu, Jae Hee Jang, et al.
Human Mutation|March 12, 2020
Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasiaGuillermo Del Angel, John Reynders, Christopher Negron, et al.
Human Mutation|January 17, 2020
POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic featuresDoo-Yi Oh, Yoshihiro Matsumoto, Shin-Ichiro Kitajiri, et al.
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