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Molecular Genetics & Genomic Medicine|June 12, 2026
A Novel Approach to Interrogating Whole Genome Sequencing Data to Optimise Clinical UtilitySarah Sonner, Caoimhe McKenna, Shirley Heggarty, et al.
Molecular Genetics & Genomic Medicine|June 12, 2026
A Case Report of Shwachman-Diamond Syndrome Caused by Heterozygous Variants in the EFL1 Gene and Literature ReviewXiaoying Zhou, Hongxin Li, Xinyi Yang, et al.
Molecular Genetics & Genomic Medicine|May 7, 2019
The Enamel Phenotype in Homozygous Fam83h Truncation MiceShih-Kai Wang, Yuanyuan Hu, Charles E Smith, et al.
Molecular Genetics & Genomic Medicine|June 16, 2026
Clinical Features and PLCZ1 Gene Variants in Two Cases of Male Infertility: A Case Series and Literature ReviewJinwei Yang, Bo Yan, Zhizhuo Wei, et al.
Molecular Genetics & Genomic Medicine|June 18, 2026
Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational ModelingLing Li, Xiu Chen, Hua Li, et al.
Molecular Genetics & Genomic Medicine|October 1, 2019
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched crySamar N Chehimi, Évelin A Zanardo, José R M Ceroni, et al.
Molecular Genetics & Genomic Medicine|July 11, 2026
Prenatal Diagnosis of a Fetus With Congenital Malformations Caused by Compound Heterozygous Mutations in FANCA: A Case Report and Literature ReviewZedong Yang, Yuchen Ma, Ju Wang, et al.
Molecular Genetics & Genomic Medicine|June 26, 2026
Gene Panel Analysis Reveals Overlapping Genetic Causes of Inherited Cataracts and Other Ocular Phenotypes in Bulgarian PatientsKristiyana Vitanova, Kunka Kamenarova, Nevyana Veleva-Krasteva, et al.
Molecular Genetics & Genomic Medicine|May 30, 2026
Identification and Functional Analysis of a Novel NSD2 Missense Variant in a Patient With Rauch-Steindl SyndromeShixuan Xu, Guoqaing Li, Yimin He, et al.
Molecular Genetics & Genomic Medicine|May 18, 2026
Multi-Level Genomic and Computational Analyses Identify a Novel IFT122 Variant Associated With Cranioectodermal Dysplasia 1 in a Consanguineous Saudi FamilyDeema Aljeaid, Abdulrahman Almadiny, Khalidah K Nasser, et al.
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