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Daniel P. Birnbaum | Researchclopedia

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Daniel P. Birnbaum

Broad Institute

9

Works

22,300

Citations

8

h-index

8

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetic Associations and Epidemiology

Affiliations

Broad Institute2015–2021

University of Maryland, Baltimore2015–2015

Massachusetts General Hospital2015–2021

Top Works

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek,Konrad J. Karczewski,et al.

201610,248 citations

Genomics and Phylogenetic Studies

CRISPR and Genetic Engineering

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20209,878 citations

The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

20191,767 citations

Analysis of protein-coding genetic variation in 60,706 humans

Monkol Lek,Konrad J. Karczewski,et al.

2015143 citations

Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans

Konrad J. Karczewski,Laurent C. Francioli,et al.

202197 citations

Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans

Sanna Gudmundsson,Konrad J. Karczewski,et al.

202158 citations

Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Colleen M. Carlston,Anne O’Donnell‐Luria,et al.

201758 citations

Pathogenic <i>ASXL1</i> somatic variants in reference databases complicate germline variant interpretation for Bohring-Opitz Syndrome

Colleen M. Carlston,Anne O’Donnell‐Luria,et al.

20161 citations