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Molecular Genetics & Genomic Medicine|February 14, 2023
Incidence and genetic variants of inborn errors of metabolism identified through newborn screening: A 7-year study in eastern coastal areas of ChinaShuai Men, Shuang Liu, Qin Zheng, et al.
Molecular Genetics & Genomic Medicine|March 10, 2023
Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophyYanshu Xie, Jingsi Luo, Jingzi Zhong, et al.
Molecular Genetics & Genomic Medicine|November 14, 2022
Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variantsHamidreza Mianesaz, Safoura Ghalamkari, Mansoor Salehi, et al.
Molecular Genetics & Genomic Medicine|November 16, 2022
Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumorsIrma van de Beek, Iris E Glykofridis, Anja Wagner, et al.
Molecular Genetics & Genomic Medicine|November 18, 2022
Synergistic effects of PI3K inhibition and pioglitazone against acute promyelocytic leukemia cellsShadi Esmaeili, Amir-Mohammad Yousefi, Mahda Delshad, et al.
Molecular Genetics & Genomic Medicine|November 17, 2022
A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth diseaseMeiYi Li, Minna Yin, Li Yang, et al.
Molecular Genetics & Genomic Medicine|February 9, 2023
Renal-hepatic-pancreatic dysplasia type 2: Perinatal lethal condition or a multisystemic disorder with variable expressivityKathryn Gunther, Essam M Imseis, Joyce P Samuel, et al.
Molecular Genetics & Genomic Medicine|January 14, 2026
Clinical and Genetic Analysis of SMARCC2-Related Diseases in Three Chinese PatientsShan Ou, Shujie Zhang, Qi Yang, et al.
Molecular Genetics & Genomic Medicine|January 12, 2026
Exploration of the Pathogenic Mechanism of the Factor XIII A Subunit in a Patient With Congenital Factor XIII DeficiencyMin Wang, Nan Wei, Tianping Chen, et al.
Molecular Genetics & Genomic Medicine|January 6, 2026
Prenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case SeriesJiong Yan, Ziyang Liu, Song Yi, et al.
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