期刊： HUMAN MUTATION, 2022; 43 (7)
There is growing evidence that synonymous codon variants (SCVs) can cause disease through the disruption of different processes of protein production.......
期刊： HUMAN MUTATION, 2022; 43 (5)
Male infertility has become a serious health and social problem troubling approximately 15% of couples worldwide; however, the genetic and phenotypic ......
期刊： HUMAN MUTATION, 2022; 43 (12)
Asthenoteratozoospermia is the primary cause of infertility in humans. However, the genetic etiology remains largely unknown for those suffering from ......
期刊： HUMAN MUTATION, 2022; 43 (7)
Neurodevelopmental disorders (NDD) are complex and multifaceted diseases involving genetic and environmental sciences. Rapid developments in sequencin......
期刊： HUMAN MUTATION, 2022; 43 (3)
Biallelic variants in EEF1B2 have recently been shown to cause a novel form of non-syndromic intellectual disability (ID) in two unrelated families. M......
期刊： HUMAN MUTATION, 2022; 43 (9)
Most of the pathogenic variants in mitochondrial DNA (mtDNA) exist in a heteroplasmic state (coexistence of mutant and wild-type mtDNA). Understanding......
期刊： HUMAN MUTATION, 2022; 43 (2)
Approximately 10% of von Willebrand factor (VWF) gene variants are suspected to disrupt messenger RNA (mRNA) processing, the number of which might be ......
期刊： HUMAN MUTATION, 2022; 43 (2)
The zona pellucida (ZP) is an extracellular matrix surrounding mammalian oocytes. It is composed of three to four glycoproteins, ZP1-ZP4. ZP3 is essen......
期刊： HUMAN MUTATION, 2022; 43 (3)
Microdeletions and gross deletions are important causes (similar to 20%) of human inherited disease and their genomic locations are strongly influence......
期刊： HUMAN MUTATION, 2022; 43 (3)
To investigate the genetic cause of male infertility characterized by severe asthenozoospermia, two unrelated infertile men with severe asthenozoosper......
期刊： HUMAN MUTATION, 2022; 43 (12)
The subcortical maternal complex (SCMC), composed of several maternal-effect genes, is vital for the development of oocytes and early embryos. Variant......
期刊： HUMAN MUTATION, 2022; 43 (2)
Rare germline variations contribute to the missing heritability of human complex diseases including cancers. Given their very low frequency, discoveri......
期刊： HUMAN MUTATION, 2022; 43 (12)
We reported de novo variants in specific exons of the TBX15 and ADAMTS2 genes in a hitherto undescribed class of patients with unique craniofacial dev......
期刊： HUMAN MUTATION, 2022; 43 (12)
Retinitis pigmentosa (RP) is a monogenic disease characterized by irreversible degeneration of the retina. PRPF31, the second most common causative ge......
期刊： HUMAN MUTATION, 2022; 43 (1)
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene variants. Previously, 94.21% of variants were identified using Sanger sequenci......
