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Molecular Genetics & Genomic Medicine|October 30, 2025
Mexican Patients With Suspected 22q11.2 Deletion Syndrome: Clinical Characterization and Molecular Findings by Fluorescence In Situ Hybridization and Multiplex Ligation-Dependent Probe AmplificationThania Alejandra Aguayo-Orozco, Horacio Rivera, Luis E Figuera, et al.
Molecular Genetics & Genomic Medicine|October 9, 2025
New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical ReportSebastián Bonilla-Navarrete, Luis Eduardo Prieto, Laura Valentina Carvajal, et al.
Molecular Genetics & Genomic Medicine|May 9, 2020
Reclassification of genetic variants in children with long QT syndromeDominik S Westphal, Tobias Burkard, Alexander Moscu-Gregor, et al.
Molecular Genetics & Genomic Medicine|May 13, 2020
Roles of HOTAIR in lung cancer susceptibility and prognosisMeng-Meng Ren, Sen Xu, Yu-Bo Wei, et al.
Molecular Genetics & Genomic Medicine|June 20, 2020
Variable clinical expression of Stickler Syndrome: A case report of a novel COL11A1 mutationEvelise Brizola, Maria Gnoli, Morena Tremosini, et al.
Molecular Genetics & Genomic Medicine|September 18, 2021
Compound heterozygous KCNV2 variants contribute to cone dystrophy with supernormal rod responses in a Chinese familyMan Liu, Yingchuan Zhu, Lian Huang, et al.
Molecular Genetics & Genomic Medicine|September 14, 2021
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanismsMegan Yabumoto, Jessica Kianmahd, Meghna Singh, et al.
Molecular Genetics & Genomic Medicine|September 16, 2021
Clinical RNA sequencing confirms compound heterozygous intronic variants in RYR1 in a patient with congenital myopathy, respiratory failure, neonatal brain hemorrhage, and d-transposition of the great arteriesAmelle Shillington, Alonso Zea Vera, Tanya Perry, et al.
Molecular Genetics & Genomic Medicine|October 24, 2019
Association of soluble CD40 levels with -1 C > T CD40 polymorphism and chronic kidney disease in systemic lupus erythematosusRaziel Tapia-Llanos, José F Muñoz-Valle, Ilce V Román-Fernández, et al.
Molecular Genetics & Genomic Medicine|October 23, 2019
Gain of function in somatic TP53 mutations is associated with immune-rich breast tumors and changes in tumor-associated macrophagesMichael Behring, Ana I Vazquez, Xiangqin Cui, et al.
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