期刊： HUMAN GENETICS, 2022; 141 (7)
Epigenetic diseases can be produced by a stable alteration, called an epimutation, in DNA methylation, in which epigenome alterations are directly inv......
期刊： HUMAN GENETICS, 2022; 141 (12)
Patients with Down syndrome (DS) are more affected by the Coronavirus Disease (COVID)-19 pandemic when compared with other populations. Therefore, the......
期刊： HUMAN GENETICS, 2022; 141 (5)
Genomic sequencing (GS) is now well embedded in clinical practice. However, guidelines issued by professional bodies disagree about whether unsolicite......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced t......
期刊： HUMAN GENETICS, 2022; 141 (7)
The emergence of next-generation sequencing enabled a cost-effective and straightforward diagnostic approach to genetic disorders using clinical exome......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
TMC1 is a causative gene for both autosomal dominant non-syndromic hearing loss (DFNA36) and autosomal recessive non-syndromic hearing loss (DFNB7/11)......
期刊： HUMAN GENETICS, 2022; 141 (1)
Mitochondrial disorders are challenging to diagnose. Exome sequencing has greatly enhanced the diagnostic precision of these disorders although interp......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Prevalence and locus/allelic heterogeneity of the hereditary hearing loss (HL) vary significantly in different human populations. Investigation of the......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Latin America comprises all countries from South and Central America, in addition to Mexico. It is characterized by a complex mosaic of regions with h......
期刊： HUMAN GENETICS, 2022; 141 (1)
Fetal abnormalities are detected in 3% of all pregnancies and are responsible for approximately 20% of all perinatal deaths. Chromosomal microarray an......
期刊： HUMAN GENETICS, 2022; 141 (6)
Variant interpretation remains a central challenge for precision medicine. Missense variants are particularly difficult to understand as they change o......
期刊： HUMAN GENETICS, 2022; 141 (3-4)
Otosclerosis is a relatively common cause of hearing impairment, characterized by abnormal bone remodeling of the middle and inner ear. In about 50-60......
期刊： HUMAN GENETICS, 2022; 141 (9)
Deep generative models can learn the underlying structure, such as pathways or gene programs, from omics data. We provide an introduction as well as a......
