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Molecular Genetics & Genomic Medicine|October 17, 2022
Scalable detection of technically challenging variants through modified next-generation sequencingSusan Rojahn, Tina Hambuch, Jessika Adrian, et al.Molecular Genetics & Genomic Medicine|September 5, 2022
Spinal muscular atrophy carrier frequency in Saudi ArabiaMohammed Al Jumah, Saad Al Rajeh, Wafaa Eyaid, et al.Molecular Genetics & Genomic Medicine|October 13, 2022
Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescenceMasha Kolesnikova, Jose Ronaldo Lima de Carvalho, Rait Parmann, et al.Molecular Genetics & Genomic Medicine|September 17, 2022
Pain triangle phenomenon in possible association with SCN9A: A case reportMaurice Sopacua, Janneke G J Hoeijmakers, Anneke J van der Kooi, et al.Molecular Genetics & Genomic Medicine|September 20, 2022
Diagnosis and treatment of MN1 C-terminal truncation syndromeJingjia Yu, Chen Li, Jialin Chen, et al.Molecular Genetics & Genomic Medicine|January 15, 2022
Acute myeloid leukemia due to germline CEBPA mutation in a Syrian familyAbdulsamad Wafa, Belal Ali, Faten Moassass, et al.Molecular Genetics & Genomic Medicine|September 7, 2022
Neurodevelopmental disorder with dystonia due to SOX6 mutationsSusanne A Schneider, Christine Mueller, Saskia Biskup, et al.Molecular Genetics & Genomic Medicine|September 28, 2021
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2CLucie Tosca, Loïc Drévillon, Aurélie Mouka, et al.Molecular Genetics & Genomic Medicine|February 18, 2022
Multivariate, region-based genetic analyses of facets of reproductive aging in White and Black womenLawrence F Bielak, Patricia A Peyser, Jennifer A Smith, et al.Molecular Genetics & Genomic Medicine|February 16, 2022
Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and reviewXiaoyan Xu, Shu Hou, Weiwei Sun, et al.Pageof 252