Daniel P. Birnbaum
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, Genomics and Phylogenetic Studies, CRISPR and Genetic Engineering
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
- → Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)97 cited
- → Pathogenic ASXL1 somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome(2017)58 cited
- → Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans(2021)57 cited