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Molecular Genetics & Genomic Medicine|January 15, 2021
Dual activating FGFR1 mutations in pediatric pilomyxoid astrocytomaElena I Fomchenko, Benjamin C Reeves, William Sullivan, et al.
Molecular Genetics & Genomic Medicine|January 16, 2021
Netherton syndrome caused by compound heterozygous mutation, c.80A>G mutation in SPINK5 and large-sized genomic deletion mutation, and successful treatment of intravenous immunoglobulinZhen Zhang, Chaolan Pan, Ruoqu Wei, et al.
Molecular Genetics & Genomic Medicine|January 17, 2021
Duplication of 9p24.3 in three unrelated patients and their phenotypes, considering affected genes, and similar recurrent variantsZuzana Capkova, Pavlina Capkova, Josef Srovnal, et al.
Molecular Genetics & Genomic Medicine|January 28, 2021
Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependenceKevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, et al.
Molecular Genetics & Genomic Medicine|January 20, 2021
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathyEdda Haberlandt, Taras Valovka, Tanja Janjic, et al.
Molecular Genetics & Genomic Medicine|January 20, 2021
Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese familyYing Peng, Shuting Yang, Hui Xi, et al.
Molecular Genetics & Genomic Medicine|January 14, 2021
Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variantEmma C Bedoukian, Stefan Rentas, Cara Skraban, et al.
Molecular Genetics & Genomic Medicine|January 19, 2022
Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth diseaseHye Jin Kim, Sang Beom Kim, Hyun Su Kim, et al.
Molecular Genetics & Genomic Medicine|March 22, 2019
Association between IL-1R2 polymorphisms and lung cancer risk in the Chinese Han population: A case-control studyChaoying Wang, Chengsheng Zhang, Junnv Xu, et al.
Molecular Genetics & Genomic Medicine|November 20, 2018
Dysfunctional DNA repair pathway via defective FANCD2 gene engenders multifarious exomic and transcriptomic effects in Fanconi anemiaKarthik Raja Velmurugan, Pawel Michalak, Lin Kang, et al.
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