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Molecular Genetics & Genomic Medicine|January 22, 2020
Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancyXiao-Lei Shi, Qi Yang, Na Pu, et al.
Molecular Genetics & Genomic Medicine|January 22, 2020
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex developmentJocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, et al.
Molecular Genetics & Genomic Medicine|February 27, 2020
Expanding the spectrum of SMAD3-related phenotypes to agnathia-otocephalyNicole Meier, Elisabeth Bruder, Peter Miny, et al.
Molecular Genetics & Genomic Medicine|February 28, 2020
The expanding phenotype of hypokalemic periodic paralysis in a Japanese family with p.Val876Glu mutation in CACNA1SMari Kurokawa, Michiko Torio, Kazuhiro Ohkubo, et al.
Molecular Genetics & Genomic Medicine|February 29, 2020
Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control studyHao Wang, Jielin Liu, Kuo Liu, et al.
Molecular Genetics & Genomic Medicine|April 8, 2020
Novel frameshift mutations of ANKUB1, GLI3, and TAS2R3 associated with polysyndactyly in a Chinese familyLishan Zhang, Xiaobin Chen, Lanwei Xu, et al.
Molecular Genetics & Genomic Medicine|November 19, 2019
Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencingJuan C Zenteno, Leopoldo A García-Montaño, Marisa Cruz-Aguilar, et al.
Molecular Genetics & Genomic Medicine|January 29, 2020
Chromosome 15q BP3 to BP5 deletion is a likely locus for speech delay and language impairment: Report on a four-member family and an unrelated boyPiero Pavone, Martino Ruggieri, Simona D Marino, et al.
Molecular Genetics & Genomic Medicine|January 29, 2020
Survey of Ehlers-Danlos Patients' ophthalmic surgery experiencesAnita Louie, Catherine Meyerle, Clair Francomano, et al.
Molecular Genetics & Genomic Medicine|November 20, 2020
Clinical and genetic characterization of ten Egyptian patients with Wolf-Hirschhorn syndrome and review of literatureMona K Mekkawy, Alaa K Kamel, Manal M Thomas, et al.
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