标签归档:de novo

2015
03-24
Recurrent de novo mutations implicate novel genes underlying simplex autism risk Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we report on the resequencing of 64 ca.... Read More >
2015
03-24
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 andSYNGAP1 Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of which the .... Read More >
2015
03-13
Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing Abstrac.... Read More >
2015
01-22
  Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Summary Background Human ge.... Read More >