Julia K. Goodrich

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

41h-index58.8kcitations101works33.12yr avg
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Research Topics

Gut microbiota and health(25), Genomics and Rare Diseases(21), Genomics and Phylogenetic Studies(11), Genomic variations and chromosomal abnormalities(11), Diet and metabolism studies(11)

Publications99 total

Monitoring Central Blood Pressure During Hemodialysis with Dynamic Sodium and Ultrafiltration Modeling
Journal of the American Society of Nephrology·2025
The effect of LRRK2 loss-of-function variants in humans
UNC Libraries·2025Open Access
Author Correction: The effect of LRRK2 loss-of-function variants in humans
UNC Libraries·2025Open Access
658 The smoking-hypertension relationship at the parish level in Louisiana
The American Journal of the Medical Sciences·2025
Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i> , a lncRNA Gene
New England Journal of Medicine·2024· 35 citedOpen Access
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
2024· 11 citedOpen Access
Genome Sequencing for Diagnosing Rare Diseases
New England Journal of Medicine·2024· 149 citedOpen Access
A harmonized public resource of deeply sequenced diverse human genomes
Genome Research·2024· 108 citedOpen Access
The landscape of regional missense mutational intolerance quantified from 125,748 exomes
2024· 10 citedOpen Access
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
The American Journal of Human Genetics·2024· 18 citedOpen Access
Novel syndromic neurodevelopmental disorder caused by de novo deletion of <i>CHASERR</i> , a long noncoding RNA
2024· 6 citedOpen Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
O43: Analysis of &gt;800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function
Genetics in Medicine Open·2024Open Access
P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*
Genetics in Medicine Open·2024Open Access
A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2023· 1.1k citedOpen Access
Inferring compound heterozygosity from large-scale exome sequencing data
Nature Genetics·2023· 30 citedOpen Access
CHARR efficiently estimates contamination from DNA sequencing data
The American Journal of Human Genetics·2023· 9 citedOpen Access
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease
2023· 1 citedOpen Access
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
2023· 8 citedOpen Access
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
Nature Medicine·2023Open Access
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Frequent Co-authors

Ruth E. Ley(24), Katherine R. Chao(16), Anne O’Donnell‐Luria(13), Eleina England(12), Heidi L. Rehm(11), Angela C. Poole(10), Nicholas A. Watts(10), Daniel G. MacArthur(10), Rob Knight(9), Jordana T. Bell(9), Laura D. Gauthier(9), Omry Koren(8), Andrew G. Clark(8), Ryan L. Collins(8), Samantha Baxter(8), Harrison Brand(8), Beryl B. Cummings(8), Kiran Garimella(8), Ben Weisburd(8), Moriel Singer‐Berk(8)