Kaitlin E. Samocha
Broad Institute(US)Massachusetts General Hospital(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetic Associations and Epidemiology, Autism Spectrum Disorder Research, Genetics and Neurodevelopmental Disorders
Most-Cited Works
- → Analysis of protein-coding genetic variation in 60,706 humans(2016)10,243 cited
- → The mutational constraint spectrum quantified from variation in 141,456 humans(2020)9,856 cited
- → Synaptic, transcriptional and chromatin genes disrupted in autism(2014)2,891 cited
- → Patterns and rates of exonic de novo mutations in autism spectrum disorders(2012)1,788 cited
- → Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci(2015)1,524 cited
- → High-throughput discovery of novel developmental phenotypes(2016)1,278 cited
- → A structural variation reference for medical and population genetics(2020)1,132 cited
- → A framework for the interpretation of de novo mutation in human disease(2014)1,115 cited
- → De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies(2015)872 cited