subject area of
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism Journal Articles
- A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Journal Articles
- Does family history predict the age at onset of new breast cancers in BRCA1 and BRCA2 mutation‐positive families? Journal Articles
- Generalized epilepsy with febrile seizures plus Journal Articles
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Heterozygous
NOTCH1 deletion associated with variable congenital heart defects Journal Articles - Integrins Regulate Responsiveness to Slit Repellent Signals Journal Articles
- Microbial signals drive pre-leukaemic myeloproliferation in a Tet2-deficient host Journal Articles
- Molecular characterization of NRXN1 deletions from 19,263 clinical microarray cases identifies exons important for neurodevelopmental disease expression Journal Articles
- Penetrance of Polygenic Obesity Susceptibility Loci across the Body Mass Index Distribution Journal Articles
- Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression Journal Articles
- Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Journal Articles
- Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes Journal Articles