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Molecular Genetics & Genomic Medicine|October 10, 2019
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing lossElina Kari, Lorida Llaci, John L Go, et al.
Molecular Genetics & Genomic Medicine|October 10, 2019
Targeted sequencing identifies novel variants in common and rare MODY genesLucas S de Santana, Lilian A Caetano, Aline D Costa-Riquetto, et al.
Molecular Genetics & Genomic Medicine|October 16, 2019
Identification of histone acetylation markers in human fetal brains and increased H4K5ac expression in neural tube defectsDan Li, Chunlei Wan, Baoling Bai, et al.
Molecular Genetics & Genomic Medicine|June 22, 2019
Association between IL1B gene and cervical cancer susceptibility in Chinese Uygur Population: A Case-Control studyLi Wang, Wenhui Zhao, Jiajing Hong, et al.
Molecular Genetics & Genomic Medicine|June 25, 2019
A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelinationSachiko Miyamoto, Mitsuko Nakashima, Tsukasa Ohashi, et al.
Molecular Genetics & Genomic Medicine|July 4, 2019
A novel de novo CASZ1 heterozygous frameshift variant causes dilated cardiomyopathy and left ventricular noncompaction cardiomyopathyJun Guo, Zheng Li, Chanjuan Hao, et al.
Molecular Genetics & Genomic Medicine|July 4, 2019
EIF4G1 is a novel candidate gene associated with severe asthenozoospermiaYanwei Sha, Wensheng Liu, Xianjing Huang, et al.
Molecular Genetics & Genomic Medicine|July 4, 2019
A novel mutation in the matrix metallopeptidase 2 coding gene associated with intrafamilial variability of multicentric osteolysis, nodulosis, and arthropathyLiisa Kröger, Tuija Löppönen, Leena Ala-Kokko, et al.
Molecular Genetics & Genomic Medicine|July 12, 2019
Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathyAnna Gaertner-Rommel, Jens Tiesmeier, Thomas Jakob, et al.
Molecular Genetics & Genomic Medicine|April 18, 2023
Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western GuangdongShaoming Liang, Weihong Li, Zhichao Chen, et al.
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