On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23646
Abstract: The variable evidence supporting gene–disease associations contributes to the difficulty of accurate variant reporting in a clinical setting. An evidence‐based scoring system for evaluating the clinical validity of gene–disease associations, proposed by ClinGen, considers experimental… read more here.
Keywords: novo variants; gene disease; evidence;
Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1880
Abstract: De novo variants are a common cause to rare intellectual disability syndromes, associated with low recurrence risk. However, when such variants occur pre‐zygotically in parental germ cells, the recurrence risk might be higher. Still, the… read more here.
Keywords: intellectual disability; disability syndromes; germline mosaicism; novo variants ... See more keywords
Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02268-1
Abstract: The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in consanguineous families, however, founder populations may also be of interest to study intellectual disability (ID) and the contribution of ARID. Here, we… read more here.
Keywords: intellectual disability; novo variants; founder; founder population ... See more keywords
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "American journal of human genetics"
DOI: 10.1016/j.ajhg.2018.12.008
Abstract: Using exome sequencing, we have identified de novo variants in MAPK8IP3 in 13 unrelated individuals presenting with an overlapping phenotype of mild to severe intellectual disability. The de novo variants comprise six missense variants, three… read more here.
Keywords: variants mapk8ip3; novo variants; intellectual disability; brain anomalies ... See more keywords
Identification of de novo CSNK2A1 and CSNK2B variants in cases of global developmental delay with seizures
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Human Genetics"
DOI: 10.1038/s10038-018-0559-z
Abstract: Casein kinase 2 (CK2) is a serine threonine kinase ubiquitously expressed in eukaryotic cells and involved in various cellular processes. In recent studies, de novo variants in CSNK2A1 and CSNK2B, which encode the subunits of… read more here.
Keywords: csnk2a1 csnk2b; csnk2b variants; novo variants; identification novo ... See more keywords
The pleiotropy associated with de novo variants in CHD4, CNOT3, and SETD5 extends to moyamoya angiopathy
Sign Up to like & getrecommendations! Published in 2019 at "Genetics in Medicine"
DOI: 10.1038/s41436-019-0639-2
Abstract: Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do… read more here.
Keywords: mma; novo variants; cnot3 setd5; disease ... See more keywords
Exome Sequencing Reveals De Novo Variants in Congenital Scoliosis
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric genetics"
DOI: 10.1055/s-0041-1726282
Abstract: Congenital scoliosis (CS) is a lateral curvature of the spine characterized by the presence of vertebral anomalies. Pathogenic genetic variants in the TBX6 gene are one of the causes of CS. However, since many clinically… read more here.
Keywords: congenital scoliosis; novo variants; exome sequencing; sequencing reveals ... See more keywords
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac182
Abstract: Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations… read more here.
Keywords: phenotype correlations; phenotype; novo variants; hsp atl1 ... See more keywords
denovo-db: a compendium of human de novo variants
Sign Up to like & getrecommendations! Published in 2017 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkw865
Abstract: Whole-exome and whole-genome sequencing have facilitated the large-scale discovery of de novo variants in human disease. To date, most de novo discovery through next-generation sequencing focused on congenital heart disease and neurodevelopmental disorders (NDDs). Currently,… read more here.
Keywords: human novo; denovo compendium; compendium human; novo variants ... See more keywords
VarScan2 analysis of de novo variants in monozygotic twins discordant for schizophrenia
Sign Up to like & getrecommendations! Published in 2017 at "Psychiatric Genetics"
DOI: 10.1097/ypg.0000000000000162
Abstract: Objectives Monozygotic twins with near-identical genotypes and discordance for complex diseases represent an exceptional resource to ascertain disease etiology. This strategy has been particularly effective with the availability of high-resolution complete individual genome sequencing. The… read more here.
Keywords: schizophrenia; etiology; novo variants; analysis ... See more keywords
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006180
Abstract: Alterations in the TAOK1 gene have recently emerged as the cause of developmental delay with or without intellectual impairment or behavioral abnormalities (MIM # 619575). The 32 cases currently described in the literature have predominantly… read more here.
Keywords: taok1 associated; etiology; novo variants; variants extend ... See more keywords