David Roazen

Biochemistry, Genetics and Molecular Biology · Life Sciences

16h-index24.0kcitations27works40.02yr avg
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Research Topics

Genomics and Rare Diseases(21), Genomics and Phylogenetic Studies(8), Genomic variations and chromosomal abnormalities(7), Genetic Associations and Epidemiology(6), Genomics and Chromatin Dynamics(3)

Publications25 total

Rare coding variants in ten genes confer substantial risk for schizophrenia
UNC Libraries·2026Open Access
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
UNC Libraries·2026Open Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
Deploying genomics workflows on high performance computing (HPC) platforms: storage, memory, and compute considerations
2022· 1 citedOpen Access
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
2022· 322 citedOpen Access
Rare coding variants in ten genes confer substantial risk for schizophrenia
Open MIND·2022
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes (Nature Communications, (2020), 11, 1, (2539), 10.1038/s41467-019-12438-5)
Nature Communications·2021· 1 citedOpen Access
Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 57 citedOpen Access
Author Correction: The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2021· 95 citedOpen Access
Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2021· 1 citedOpen Access
Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2021· 2 citedOpen Access
The mutational constraint spectrum quantified from variation in 141,456 humans (vol 581, pg 434, 2020)
Nature·2021· 4 cited
The mutational constraint spectrum quantified from variation in 141,456 humans
Nature·2020· 9.6k citedOpen Access
A structural variation reference for medical and population genetics
Nature·2020· 1.1k citedOpen Access
Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Nature Communications·2020· 179 citedOpen Access
Transcript expression-aware annotation improves rare variant interpretation
Nature·2020· 198 citedOpen Access
The effect of LRRK2 loss-of-function variants in humans
Nature Medicine·2020· 108 citedOpen Access
Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Nature Communications·2020· 138 citedOpen Access
Characterising the loss-of-function impact of 5’ untranslated region variants in whole genome sequence data from 15,708 individuals
2019· 12 citedOpen Access
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Frequent Co-authors

Nicholas A. Watts(20), Eric Banks(19), Laurent C. Francioli(18), Jessica Alföldi(18), Laura D. Gauthier(18), Timothy Poterba(18), Stacey Gabriel(18), Ruchi Munshi(18), Valentín Ruano-Rubio(18), Beryl B. Cummings(17), Ryan L. Collins(17), Matthew Solomonson(17), Yossi Farjoun(17), Anne O’Donnell‐Luria(17), Christopher Vittal(17), Louis Bergelson(17), Miguel Covarrubias(17), Steven Ferriera(17), Thibault Jeandet(17), Christopher Llanwarne(17)