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Molecular Genetics & Genomic Medicine|January 7, 2020
Functional analysis of a novel mutation in the TIMM8A gene that causes deafness-dystonia-optic neuronopathy syndromeAddison Neighbors, Tonya Moss, Lynda Holloway, et al.
Molecular Genetics & Genomic Medicine|March 11, 2020
Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuriaSha Yu, Wen-Xia Chen, Wei Lu, et al.
Molecular Genetics & Genomic Medicine|August 29, 2020
Rare and novel variants of PRKN and PINK1 genes in Vietnamese patients with early-onset Parkinson's diseaseNguyen Dang Ton, Nguyen Duc Thuan, Ma Thi Huyen Thuong, et al.
Molecular Genetics & Genomic Medicine|August 29, 2020
Prenatal diagnosis of Prader-Willi syndrome due to uniparental disomy with NIPS: Case report and literature reviewJekaterina Shubina, Ilya Y Barkov, Olga K Stupko, et al.
Molecular Genetics & Genomic Medicine|March 21, 2020
Clinical aspects of Hyaline Fibromatosis Syndrome and identification of a novel mutationBettina Härter, Francesco Benedicenti, Daniela Karall, et al.
Molecular Genetics & Genomic Medicine|March 28, 2020
Comparison of NGS panel and Sanger sequencing for genotyping CAG repeats in the AR geneMaria Santa Rocca, Margherita Ferrarini, Aichi Msaki, et al.
Molecular Genetics & Genomic Medicine|October 21, 2020
Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosaLi Cao, Chunyan Peng, Jing Yu, et al.
Molecular Genetics & Genomic Medicine|October 27, 2020
Analysis of expression levels of markers associated with tumor proliferation and angiogenesis in familial adenomatous polyposisZhao Zhang, Dan Wang, Chen Xu, et al.
Molecular Genetics & Genomic Medicine|October 15, 2020
Insertion of an Alu-like element in MLH1 intron 7 as a novel cause of Lynch syndromeYirong Li, Erin Salo-Mullen, Anna Varghese, et al.
Molecular Genetics & Genomic Medicine|October 5, 2020
Detection of novel Fabry disease-associated pathogenic variants in Japanese patients by newborn and high-risk screeningTakaaki Sawada, Jun Kido, Keishin Sugawara, et al.
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