Ryan L. Collins

Broad Institute — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index27.8kcitations129works15.02yr avg
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Research Topics

Genomics and Rare Diseases(48), Genomic variations and chromosomal abnormalities(40), Genomics and Phylogenetic Studies(17), CRISPR and Genetic Engineering(14), Congenital heart defects research(12)

Publications127 total

Simulation and empirical evaluation of biologically-informed neural network performance
2025Open Access
Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database
Nature Communications·2025· 3 citedOpen Access
The tissue specificity of cancer genes
2025Open Access
Aberrant recursive splicing in a human disease locus
2025Open Access
Functional consequences of genetic risk for neuropsychiatric conditions at chr22q
2025· 1 citedOpen Access
The network response to Egf is tissue-specific
iScience·2025Open Access
Diversity and consequences of structural variation in the human genome
Nature Reviews Genetics·2025· 26 cited
Rare germline structural variants increase risk for pediatric solid tumors
Science·2025· 14 citedOpen Access
Rare germline structural variants increase risk for pediatric solid tumors
2024· 1 citedOpen Access
Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma
European Urology Open Science·2024· 7 citedOpen Access
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
The American Journal of Human Genetics·2024· 1 citedOpen Access
Author Correction: GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Nature Genetics·2024Open Access
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature·2024· 157 citedOpen Access
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
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
Structural variants in Lewy body dementia and frontotemporal dementia spectrum
Alzheimer s & Dementia·2023Open Access
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data
Nature Genetics·2023· 102 citedOpen Access
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies
The American Journal of Human Genetics·2023· 50 citedOpen Access
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Nature Communications·2023· 53 citedOpen Access
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Frequent Co-authors

Harrison Brand(34), Michael E. Talkowski(33), Laura D. Gauthier(18), Laurent C. Francioli(15), Beryl B. Cummings(15), Nicholas A. Watts(15), Anne O’Donnell‐Luria(15), Konrad J. Karczewski(14), Matthew Solomonson(14), Eric Banks(14), Namrata Gupta(14), Benjamin M. Neale(14), Jessica Alföldi(13), Qingbo S. Wang(13), Timothy Poterba(13), Stacey Gabriel(13), Ruchi Munshi(13), Valentín Ruano-Rubio(13), Charlotte Tolonen(13), Mark J. Daly(13)