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Molecular Genetics & Genomic Medicine|September 24, 2020
Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney diseaseKexian Dong, Xiaogang Liu, Xueyuan Jia, et al.
Molecular Genetics & Genomic Medicine|March 18, 2020
Fine-mapping of ZDHHC2 identifies risk variants for schizophrenia in the Han Chinese populationHan Zhang, Xiuli Li, Chuanchuan Ma, et al.
Molecular Genetics & Genomic Medicine|September 14, 2020
A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic featuresYan Zhang, Cai Mei Lin, Xiao Lan Zheng, et al.
Molecular Genetics & Genomic Medicine|September 16, 2020
Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophyEdmund S Cauley, Alan Pittman, Swati Mummidivarpu, et al.
Molecular Genetics & Genomic Medicine|September 17, 2020
Direct-to-consumer genetic testing for factor V Leiden and prothrombin 20210G>A: the consumer experienceSarah L Elson, Nicholas A Furlotte, Bethann S Hromatka, et al.
Molecular Genetics & Genomic Medicine|March 12, 2020
Problems in variation interpretation guidelines and in their implementation in computational toolsMauno Vihinen
Molecular Genetics & Genomic Medicine|March 12, 2020
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationshipWeiliang Lu, Mingxing Liang, Jiasun Su, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature reviewNatalie B Tan, Rachel Stapleton, Zornitza Stark, et al.
Molecular Genetics & Genomic Medicine|September 24, 2020
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencingAlessandra Carnevale, Sandra Rosas-Madrigal, Rigoberto Rosendo-Gutiérrez, et al.
Molecular Genetics & Genomic Medicine|September 15, 2020
Characterization of CRB1 splicing in retinal organoids derived from a patient with adult-onset rod-cone dystrophy caused by the c.1892A>G and c.2548G>A variantsXiao Zhang, Jennifer A Thompson, Dan Zhang, et al.
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