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Molecular Genetics & Genomic Medicine|August 7, 2025
Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)Michela Bellardita, Ferruccio Romano, Ludovica Menta, et al.
Molecular Genetics & Genomic Medicine|August 13, 2025
A Prenatal Ultrasound Study of Cerebral Cortical Sulci and Gyri Development in Fetuses With Overgrowth Syndrome and/or Cerebral Malformations due to Abnormalities in MTOR Pathway GenesHui Wang, Shengli Li, Qiong Zhen, et al.
Molecular Genetics & Genomic Medicine|July 30, 2025
B3GNT2, GPR35, PSMG1 Gene Polymorphisms Are Related With Susceptibility and Severity of Ankylosing Spondylitis in Chinese Han PopulationZijian Lian, Bin Zhao, Wei Luo, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Two novel mutations in DNAJC12 identified by whole-exome sequencing in a patient with mild hyperphenylalaninemiaMengting Li, Qi Yang, Sheng Yi, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritanceAlice Traversa, Enrica Marchionni, Agnese Giovannetti, et al.
Molecular Genetics & Genomic Medicine|June 16, 2020
Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathyMathieu Cerino, Chloé Di Meglio, Francesca Albertini, et al.
Molecular Genetics & Genomic Medicine|June 9, 2020
A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese familyBaowei Li, Xiong Wang, Xiaodan Hao, et al.
Molecular Genetics & Genomic Medicine|August 6, 2021
The associations of CNR1 SNPs and haplotypes with vulnerability and treatment response phenotypes in Han Chinese with major depressive disorder: A case-control association studyChenghao Yang, Ilja M Nolte, Yanyan Ma, et al.
Molecular Genetics & Genomic Medicine|July 21, 2025
Electronic Patient Portals as a Modality for Returning Reclassified Genetic Test ResultsSukh Makhnoon, MinJae Lee, Mujeeb Basit, et al.
Molecular Genetics & Genomic Medicine|December 21, 2025
Accelerated Identification and Preliminary Validation of a Pathogenic Missense Variant in the L1CAM Gene in a Pregnant Woman With Sonographic Anomalies Using AlphaMissenseZhihui Wang, Xuna Shen, Chenyang Xu, et al.
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