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Molecular Genetics & Genomic Medicine|June 17, 2025
Identification of De Novo Chromosomal Translocations Disrupting NIPBL in a Patient With Cornelia de Lange Syndrome by Full Genome AnalysisHsiao-Jung Kao, Elin H F Wang, Erh-Chan Yeh, et al.
Molecular Genetics & Genomic Medicine|June 14, 2025
A Randomized, Double-Blind, 2-Treatment, 2-Period, Crossover Phase 1 Study to Compare the Pharmacokinetics, Safety and Tolerability of 60 IU/Kg of Abcertin and Cerezyme in Healthy Volunteers Following a Single Intravenous AdministrationEungu Kang, Dohyung Kim, Soojin Hwang, et al.
Molecular Genetics & Genomic Medicine|June 16, 2025
Prenatal Diagnosis of Arachnoid Cysts Without Extra-Central Nervous System Anomalies in the Korean Population: A Multi-Center Retrospective Study on Postnatal Diagnosis and Clinical OutcomesSubeen Hong, Young Mi Jung, Hyun-Joo Seol, et al.
Molecular Genetics & Genomic Medicine|February 8, 2026
Identification of a Novel Missense Homozygous Variant in LINS1 in Two Distinct Iranian Families With Consanguineous MarriageElham Alimoradi, Parham Nejati, Arash Salmaninejad, et al.
Molecular Genetics & Genomic Medicine|January 30, 2026
Mosaic Li Fraumeni Syndrome Not Identified in Germinal TissueRhianna M Urban, Nisha Kanwar, Megan A Holdren, et al.
Molecular Genetics & Genomic Medicine|December 11, 2017
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapseAlisson Clemenceau, Jean-Christophe Bérubé, Paméla Bélanger, et al.
Molecular Genetics & Genomic Medicine|November 29, 2018
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndromeErika Tavares, Chen Yu Tang, Anjali Vig, et al.
Molecular Genetics & Genomic Medicine|November 29, 2018
Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variantEline Overwater, Rifka Efrat, Daniela Q C M Barge-Schaapveld, et al.
Molecular Genetics & Genomic Medicine|December 6, 2018
Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutationPaul de Laat, Richard J Rodenburg, Jan A M Smeitink, et al.
Molecular Genetics & Genomic Medicine|January 3, 2019
Functional analysis of the p.[Arg74Trp;Val201Met;Asp1270Asn]/p.Phe508del CFTR mutation genotype in human native colonSylvia Schucht, Rebecca Minso, Christiane Lex, et al.
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