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Molecular Genetics & Genomic Medicine|October 1, 2019
Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family studyMagdalena Cerón-Rodríguez, Guillermo Ramón-García, Edgar Barajas-Colón, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variantIsabel Ibarra-González, Cynthia Fernández-Lainez, Miguel Angel Alcántara-Ortigoza, et al.
Molecular Genetics & Genomic Medicine|October 2, 2019
Circular RNA circ-TSPAN4 promotes lung adenocarcinoma metastasis by upregulating ZEB1 via sponging miR-665Xiwang Ying, Jianwei Zhu, Yuanhui Zhang
Molecular Genetics & Genomic Medicine|August 11, 2019
Preserved expressive language as a phenotypic determinant of Mosaic Angelman SyndromeRobert P Carson, Lynne Bird, Anna K Childers, et al.
Molecular Genetics & Genomic Medicine|August 13, 2019
Evolutionary history of disease-susceptibility loci identified in longitudinal exome-wide association studiesYoshiki Yasukochi, Jun Sakuma, Ichiro Takeuchi, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Gene-level genome-wide association analysis of suicide attempt, a preliminary study in a psychiatric Mexican populationThelma Beatriz González-Castro, José Jaime Martínez-Magaña, Carlos Alfonso Tovilla-Zárate, et al.
Molecular Genetics & Genomic Medicine|October 4, 2019
Exome sequencing study of partial agenesis of the corpus callosum in men with developmental delay, epilepsy, and microcephalyJolyane Meloche, Vanessa Brunet, Pierre-Alexandre Gagnon, et al.
Molecular Genetics & Genomic Medicine|January 24, 2021
Update of genetic variants in CEP120 and CC2D2A-With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapiesMiguel Barroso-Gil, Eric Olinger, Simon A Ramsbottom, et al.
Molecular Genetics & Genomic Medicine|February 2, 2021
Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in CameroonAmbroise Wonkam, Kamogelo Lebeko, Shaheen Mowla, et al.
Molecular Genetics & Genomic Medicine|February 3, 2021
Combining bioinformatics analysis and experiments to explore CARNS1 as a prognostic biomarker for breast cancerLi Zhang, Yan Zhang, Xin Zhang, et al.
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