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Molecular Genetics & Genomic Medicine|February 18, 2025
Loss-of-Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair PhenotypeChristina Del Greco, Molly E Kuo, Desiree E C Smith, et al.
Molecular Genetics & Genomic Medicine|February 19, 2025
Unraveling the Genetic Landscape of Hearing Loss: A Comprehensive Study of Azeri Families in Ardabil, IranMarzieh Mohseni, Farzane Zare Ashrafi, Ehsan Abbaspour Rodbaneh, et al.
Molecular Genetics & Genomic Medicine|November 17, 2025
Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry DiseaseDominique P Germain, Pronabesh DasMahapatra, Shiguang Liu, et al.
Molecular Genetics & Genomic Medicine|December 16, 2020
Trio-WES reveals a novel de novo missense mutation of KMT2A in a Chinese patient with Wiedemann-Steiner syndrome: A case reportXiong Wang, Guijiao Zhang, Yanjun Lu, et al.
Molecular Genetics & Genomic Medicine|December 21, 2020
Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature reviewLu Yang, Qianli Zhang, Shiyu Zhang, et al.
Molecular Genetics & Genomic Medicine|December 25, 2019
Evidence of positively selected G6PD A- allele reduces risk of Plasmodium falciparum infection in African population on Bioko IslandXue-Yan Liang, Jiang-Tao Chen, Yan-Bo Ma, et al.
Molecular Genetics & Genomic Medicine|December 28, 2019
Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiersJob A J Verdonschot, Emma L Robinson, Kiely N James, et al.
Molecular Genetics & Genomic Medicine|December 29, 2019
Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafishYu Nakagama, Norihiko Takeda, Seishi Ogawa, et al.
Molecular Genetics & Genomic Medicine|October 31, 2019
Association of MTHFR C677T polymorphism and type 2 diabetes mellitus (T2DM) susceptibilityYanzi Meng, Xiaoling Liu, Kai Ma, et al.
Molecular Genetics & Genomic Medicine|October 31, 2019
Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)Andrea Martin-Nalda, Anna M Cueto-González, Ana Argudo-Ramírez, et al.
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