Show
Sort by
-
- Journal Article
- A1
- open access
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
-
- Journal Article
- A1
- open access
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
-
- Journal Article
- A1
- open access
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
-
- Journal Article
- A1
- open access
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
-
- Journal Article
- A1
- open access
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
-
MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
-
- Journal Article
- A1
- open access
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenital
-
- Journal Article
- A1
- open access
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
-
- Journal Article
- A1
- open access
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
-
Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness