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Molecular Genetics & Genomic Medicine|February 23, 2018
Improvement of life quality measured by Lansky Score after enzymatic replacement therapy in children with Gaucher disease type 1Magdalena Cerón-Rodríguez, Edgar Barajas-Colón, Lyuva Ramírez-Devars, et al.
Molecular Genetics & Genomic Medicine|November 24, 2017
Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypesTiia Maria Luukkonen, Mana M Mehrjouy, Minna Pöyhönen, et al.
Molecular Genetics & Genomic Medicine|January 30, 2020
Cardiac arrest in a mother and daughter and the identification of a novel RYR2 variant, predisposing to low penetrant catecholaminergic polymorphic ventricular tachycardia in a four-generation Canadian familyMatthew Tung, Filip Van Petegem, Samantha Lauson, et al.
Molecular Genetics & Genomic Medicine|January 28, 2020
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterizationKévin Uguen, Claire Jubin, Yannis Duffourd, et al.
Molecular Genetics & Genomic Medicine|September 2, 2020
Genetic variants in GHR and PLCE1 genes are associated with susceptibility to esophageal cancerRong Wang, Lining Si, Derui Zhu, et al.
Molecular Genetics & Genomic Medicine|September 2, 2020
Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotationYuan Quan, Qing-Ye Zhang, Bo-Min Lv, et al.
Molecular Genetics & Genomic Medicine|September 2, 2020
Neurodevelopmental trajectory and modifiers of 16p11.2 microdeletion: A follow-up study of four Chinese children carriersHua Xie, Fang Liu, Yu Zhang, et al.
Molecular Genetics & Genomic Medicine|September 5, 2020
Prenatal diagnosis of a rare β-thalassemia gene －90 (C>T) (HBB: c.-140 C>T) mutation associated with deletional Hb H disease (--SEA /-α4.2 )Hou Qian, Jianlin Huang, Ji Xu, et al.
Molecular Genetics & Genomic Medicine|November 9, 2020
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfectaJing Hu, Lu-Jiao Li, Wen-Bin Zheng, et al.
Molecular Genetics & Genomic Medicine|September 22, 2020
Screening of germline mutations in young Rwandan patients with breast cancersJeanne P Uyisenga, Karin Segers, Aimé Z Lumaka, et al.
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