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Molecular Genetics & Genomic Medicine|August 13, 2022
X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX geneFatemeh Shakarami, Mehdi Jahani, Zahra Nouri, et al.
Molecular Genetics & Genomic Medicine|November 8, 2022
Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertilitySiyu Dai, Yan Liang, Mohan Liu, et al.
Molecular Genetics & Genomic Medicine|December 11, 2025
Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese FamilyMojiang Li, Cheng Chen, Yingshu Li, et al.
Molecular Genetics & Genomic Medicine|January 20, 2026
Pharmacogenomic Calling From Whole-Exome Sequencing in the Taiwanese Population-A Real-World ExperienceHsu-Heng Lin, Meng-Ju Melody Tsai, Hui-An Chen, et al.
Molecular Genetics & Genomic Medicine|January 12, 2026
Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype CorrelationsSalha Bujassoum Al-Bader, Hajer Al-Mulla, Hind Al-Habish, et al.
Molecular Genetics & Genomic Medicine|November 14, 2025
Molecular Analysis of the HGD Gene in 9 Families With Alkaptonuric Ochronosis in Iran and Identification of Two Novel VariantsAhad Azami, Mohammad Jahanpanah, Yousef Imani Marani, et al.
Molecular Genetics & Genomic Medicine|December 28, 2025
Genotype-Phenotype Correlations in Klinefelter and Turner Syndrome: A Decade of Sex Chromosome Aneuploidy Data From a Single Academic Medical CenterStephanie A Hart, Joel A Morales-Rosado, Xinxiu Xu, et al.
Molecular Genetics & Genomic Medicine|January 11, 2026
Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High-Risk Pediatric PopulationsAdnan A Sedeeq Al-Doski
Molecular Genetics & Genomic Medicine|December 31, 2025
A De Novo Splicing Mutation of SRP72 in Bone Marrow Failure Syndrome Type 1: Case Report and Review of the LiteratureWang Xiangwen, Zhang Duo, Hao Wenjing, et al.
Molecular Genetics & Genomic Medicine|December 15, 2025
A Case of CSNK2A1 Gene Variant Causing Okur-Chung Syndrome and Analysis of the Clinical Phenotypic SpectrumXin Li, Shuping Wang, Xin Liu, et al.
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