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Molecular Genetics & Genomic Medicine|April 26, 2019
Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptomsThomas A Cassini, Laura Duncan, Lynette C Rives, et al.
Molecular Genetics & Genomic Medicine|April 11, 2019
Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspringThanh T Hoang, Yunping Lei, Laura E Mitchell, et al.
Molecular Genetics & Genomic Medicine|May 3, 2019
Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate geneJohanna Lundin, Ellen Markljung, Izabella Baranowska Körberg, et al.
Molecular Genetics & Genomic Medicine|May 4, 2019
Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disordersJinglei Zheng, Haochen Liu, Yuan Zhan, et al.
Molecular Genetics & Genomic Medicine|October 16, 2018
Clinical whole-exome sequencing results impact medical managementNancy Niguidula, Christina Alamillo, Layla Shahmirzadi Mowlavi, et al.
Molecular Genetics & Genomic Medicine|October 30, 2021
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseasesFrederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variantsSofia Frisk, Alexandra Wachtmeister, Tobias Laurell, et al.
Molecular Genetics & Genomic Medicine|February 4, 2022
Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS)Fang Yang, Rong-Juan Yang, Qian Li, et al.
Molecular Genetics & Genomic Medicine|February 7, 2022
Decreased expression of autophagy-related genes in the complete remission phase of acute myeloid leukemiaParisa Tandel, Reza Ranjbaran, Eqbal Ebrahimi, et al.
Molecular Genetics & Genomic Medicine|October 16, 2021
Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysisNarae Hwang, Ja-Hyun Jang, Eun-Hae Cho, et al.
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