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Molecular Genetics & Genomic Medicine|April 19, 2023
Sequential application of copy number variation sequencing and quantitative fluorescence polymerase chain reaction in genetic analysis of miscarriage and stillbirthQuan Chen, Hao Zhang, Xue Li, et al.
Molecular Genetics & Genomic Medicine|March 31, 2023
Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variationsShuang He, Shuai Chen, Shu-Jian Li, et al.
Molecular Genetics & Genomic Medicine|November 5, 2022
Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center studyBryan J Gall, Trevor B Smart, Robin Munch, et al.
Molecular Genetics & Genomic Medicine|October 28, 2022
Same family, same mutation, different ECGKürşat Akbuğa, Mustafa Karanfil
Molecular Genetics & Genomic Medicine|October 1, 2022
Kearns-Sayre syndrome case. Novel 5,9 kb mtDNA deletionKristina Grigalionienė, Birutė Burnytė, Danutė Balkelienė, et al.
Molecular Genetics & Genomic Medicine|September 20, 2022
High-level gonosomal mosaicism for a pathogenic non-coding CNV deletion of the lung-specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPVEsra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, et al.
Molecular Genetics & Genomic Medicine|September 3, 2022
Mutation spectrum of non-syndromic hearing loss in the UAE, a retrospective cohort study and literature reviewOmnia Elsayed, Aisha Al-Shamsi
Molecular Genetics & Genomic Medicine|November 28, 2023
Whole exome sequencing reveals novel candidate variants for endometriosis utilizing multiple affected members in a single familyBusra Gizem Kina, Nura Fitnat Topbas Selcuki, Pinar Yalcin Bahat, et al.
Molecular Genetics & Genomic Medicine|November 28, 2023
Clinical and ocular abnormalities in DEGCAGS syndrome-Developmental delay with gastrointestinal, cardiovascular, genitourinary, and skeletal abnormalitiesSyed M Ali, Dua A AlMasri, Carlos E Prada, et al.
Molecular Genetics & Genomic Medicine|November 28, 2023
A novel homozygous missense variant in LRP4 causing Cenani-Lenz syndactyly syndrome and literature reviewYadong Fu, Yueyun Zhou, Qing'e Zhang, et al.
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