An analysis of 18 individuals with intellectual disability and macrocephaly has pointed to alterations of NFIB gene. NFIB gene product…
Genetic Variants
interpreting the genome
The most extensive study of post-traumatic stress disorder (PTSD) – involving 27.5 thousand cases – has linked the risk of…
A study of rare disorder hypotrichosis simplex has pointed to LSS gene as essential in a hair loss process. The…
An analysis of 62 families with cases of polycystic ovary syndrome has associated rare variants of DENND1A gene with the…
Broad cluster of positive and negative regulatory genes was found influence microexons – genome element with a possible role in…
Approximately half of brain cancer diseases with epilepsy symptoms may be associated with mutations in BRAF-V600E gene. A study found…
An analysis of 17,151 hip osteoarthritis patients has pointed to genetic variants in four genes: SMO, IL11, COL11A1, CHADL. Overall,…
Four individuals with developmental delay and various symptoms were found to have mutations in the same gene: CCDC47. CCDC47 gene…
Gene PRDM9 have been associated with 32 various cancer types. One of the main hallmarks of cancer diseases is genome…
An analysis of 79,196 individuals in schizophrenia within European and East Asian populations have found 208 genomic variants, including 53…