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Molecular Genetics & Genomic Medicine|July 24, 2023
Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndromeJianlong Zhuang, Shufen Liu, Junyu Wang, et al.
Molecular Genetics & Genomic Medicine|August 9, 2023
Clinical report and genetic analysis of a Chinese neonate with craniofacial microsomia caused by a splicing variant of the splicing factor 3b subunit 2 geneYongli Zhang, Shaohua Bi, Liying Dai, et al.
Molecular Genetics & Genomic Medicine|July 21, 2023
11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four-way balanced chromosomal translocationQinxin Zhang, Yan Wang, Jing Zhou, et al.
Molecular Genetics & Genomic Medicine|May 30, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort studyYi Chen, Yuanzhen Zhang, Jun Huang, et al.
Molecular Genetics & Genomic Medicine|March 27, 2026
PDXK-Related Neuropathy: A Case With a Novel Splice-Altering Missense Variant and Literature ReviewDmitrii Subbotin, Daria Akimova, Elena Dadali, et al.
Molecular Genetics & Genomic Medicine|March 27, 2026
Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein GenesYueli Guo, Tingting Shan, Wenjieying Zheng, et al.
Molecular Genetics & Genomic Medicine|April 8, 2026
Prenatal Exome Diagnostic Yield, Syndromic Landscape and Secondary FindingsKayleigh Avello, Shawn Gessay, Megan Nelson, et al.
Molecular Genetics & Genomic Medicine|March 24, 2026
Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center ExperienceYing Lin, Qun Lu, Yun Wu, et al.
Molecular Genetics & Genomic Medicine|April 16, 2024
Reclassification of a spindle cell sarcoma after identification of a TFG-ROS1 fusion: A case demonstrating the clinical benefit of next-generation sequencing in sarcomaJohn J Lim, Eleanor Y Chen, Stephanie K Schaub, et al.
Molecular Genetics & Genomic Medicine|May 13, 2024
Short report: Twins with 20p13 duplication. Case report and comprehensive literature reviewBenjamin J Kennedy, Sarah K Savage, Stephen G Kaler
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