Ryan L. Collins

Also affiliated with Harvard University, Massachusetts General Hospital, Dana-Farber Cancer Institute

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

14.1Author DataRank

Indexed papers

8in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 8 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Papers

Driven by 35 papers — median percentile 93. Top paper: “A genomic mutational constraint map using variation in 76,156 human genomes”.

A genomic mutational constraint map using variation in 76,156 human genomes

Nature(2023)10.1038/s41586-023-06045-0

N/A

9.6DataRank · unranked

1369 citations

Laurent C. Francioli, Julia K. Goodrich, Ryan L. Collins, Masahiro Kanai, Qingbo S. Wang +95 more

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell(2020)10.1016/j.cell.2019.12.036

N/A

9.5DataRank · unranked

2470 citations

Jack A. Kosmicki, Jiebiao Wang, Michael S. Breen, Silvia De Rubeis, Joon‐Yong An +95 more

Genome-wide enhancer maps link risk variants to disease genes

Nature(2021)10.1038/s41586-021-03446-x

N/A

7.7DataRank · unranked

764 citations

Drew T. Bergman, Charles P. Fulco, Philine Guckelberger, Benjamin R. Doughty, Tejal A. Patwardhan +27 more

A structural variation reference for medical and population genetics

Nature(2020)10.1038/s41586-020-2287-8

Top 3%

6.7DataRank

Top 3%1180 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +201 more

Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes

Nature Communications(2020)10.1038/s41467-019-12438-5

N/A

5.6DataRank · unranked

143 citations

James Zou, Beryl B. Cummings, Jessica Alföldi, Laurent C. Francioli, Laura D. Gauthier +174 more

Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals

Nature Communications(2020)10.1038/s41467-019-10717-9

N/A

5.2DataRank · unranked

191 citations

Konrad J. Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J. Smith, D. Gareth Evans +181 more

The effect of LRRK2 loss-of-function variants in humans

Nature Medicine(2020)10.1038/s41591-020-0893-5

N/A

4.9DataRank · unranked

114 citations

Irina M. Armean, Aaron Kleinman, Jamie L. Marshall, Eric V. Minikel, Julia K. Goodrich +214 more

A cross-disorder dosage sensitivity map of the human genome

Cell(2022)10.1016/j.cell.2022.06.036

Top 5%

4.7DataRank

Top 5%367 citations

Joseph Glessner, Eleonora Porcu, Maarja Lepamets, Rhonda Brandon, Christopher Lauricella +46 more

An open resource of structural variation for medical and population genetics

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/578674

Top 9%

2.2DataRank

Top 9%44 citations

Harrison Brand, Konrad J. Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C. Francioli +37 more

A cross-disorder dosage sensitivity map of the human genome

medRxiv(2021)10.1101/2021.01.26.21250098

N/A

2.0DataRank · unranked

54 citations

Joseph Glessner, Eleonora Porcu, Lisa‐Marie Niestroj, Jacob C. Ulirsch, Georgios Kellaris +28 more

Functional annotation of rare structural variation in the human brain

Nature Communications(2020)10.1038/s41467-020-16736-1

N/A

1.7DataRank · unranked

54 citations

Xuefang Zhao, Mary Lauren Benton, Thanneer M. Perumal, Ryan L. Collins, Gabriel E. Hoffman +65 more

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

1.4DataRank · unranked

57 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

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

Nature(2020)10.1038/s41586-020-2308-7

N/A

1.4DataRank · unranked

9958 citations

Laurent C. Francioli, Grace Tiao, Beryl B. Cummings, Jessica Alföldi, Qingbo S. Wang +187 more

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

Nature Communications(2023)10.1038/s41467-023-39539-6

N/A

1.2DataRank · unranked

56 citations

David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian +94 more

Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs

Human Molecular Genetics(2021)10.1093/hmg/ddaa283

N/A

1.2DataRank · unranked

38 citations

Yejin Lee, Douglas Barker, Kevin Correia, Baehyun Shin, Jacob M. Loupe +15 more

Familial thrombocytopenia due to a complex structural variant resulting in a WAC-ANKRD26 fusion transcript

The Journal of Experimental Medicine(2021)10.1084/jem.20210444

N/A

1.1DataRank · unranked

32 citations

Jeffrey M. Verboon, Leif S. Ludwig, Susan Black, Wendy Luo, Kopal Garg +13 more

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

Nature Genetics(2022)10.1038/s41588-022-01104-0

N/A

0.969DataRank · unranked

638 citations

F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong +112 more

Transcript expression-aware annotation improves rare variant interpretation

Nature(2020)10.1038/s41586-020-2329-2

N/A

0.796DataRank · unranked

201 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +177 more

Evaluating drug targets through human loss-of-function genetic variation

Nature(2020)10.1038/s41586-020-2267-z

N/A

0.779DataRank · unranked

179 citations

Konrad J. Karczewski, Hilary C. Martin, Beryl B. Cummings, Nicola Whiffin, Daniel R. Rhodes +150 more

Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.014

N/A

0.739DataRank · unranked

137 citations

Ryan L. Collins, Wan‐Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu +18 more

GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data

Nature Genetics(2023)10.1038/s41588-023-01449-0

N/A

0.722DataRank · unranked

122 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +10 more

Genome‐Wide Analysis of Structural Variants in Parkinson Disease

Annals of Neurology(2023)10.1002/ana.26608

N/A

0.546DataRank · unranked

37 citations

Jinhui Ding, Pilar Álvarez Jerez, Anastasia Illarionova, Kristin Levine, Francis P. Grenn +35 more

Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism

10.1101/2021.12.20.21267194

N/A

0.538DataRank · unranked

35 citations

F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong +60 more

Genome-wide structural variant analysis identifies risk loci for non-Alzheimer’s dementias

Cell Genomics(2023)10.1016/j.xgen.2023.100316

N/A

0.524DataRank · unranked

32 citations

Ruth Chia, Jinhui Ding, Memoona Rasheed, Masashi Fujita, Vilas Menon +88 more

Rare germline structural variants increase risk for pediatric solid tumors

Science(2025)10.1126/science.adq0071

N/A

0.477DataRank · unranked

23 citations

Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker +13 more

Exploring penetrance of clinically relevant variants in over 800,000 humans from the Genome Aggregation Database

Nature Communications(2025)10.1038/s41467-025-61698-x

Top 44%

0.417DataRank

Top 44%14 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +95 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0.385DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

medRxiv(2022)10.1101/2022.02.15.22270795

N/A

0.373DataRank · unranked

11 citations

Mana M. Mehrjouy, Ryan L. Collins, Mads Bak, Olga Dudchenko, Harrison Brand +95 more

Integrative Analysis of Germline Rare Variants in Clear and Non–clear Cell Renal Cell Carcinoma

European Urology Open Science(2024)10.1016/j.euros.2024.02.006

N/A

0.345DataRank · unranked

9 citations

Sabrina Y. Camp, Hoyin Chu, Ryan L. Collins, Riaz Gillani, Jihye Park +11 more

Expectations and blind spots for structural variation detection from short-read alignment and long-read assembly

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.07.03.168831

N/A

0.292DataRank · unranked

6 citations

Ryan L. Collins, Wan-Ping Lee, Alexandra M. Weber, Yukyung Jun, Qihui Zhu +18 more

Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma

medRxiv(2023)10.1101/2023.01.18.23284664

N/A

0DataRank · unranked

0 citations

Sabrina Y. Camp, Hoyin Chu, Ryan L. Collins, Riaz Gillani, Jihye Park +11 more

The network response to Egf is tissue-specific

iScience(2025)10.1016/j.isci.2025.112146

N/A

0DataRank · unranked

1 citations

Joao A. Paulo, Deborah L. Burkhart, Ian R. Smith, Ryan L. Collins, J. Wade Harper +3 more

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK Biobank

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.08.25.504851

N/A

0DataRank · unranked

13 citations

Jack Fu, Samuel K. Lee, Andrey N. Smirnov, Laura D. Gauthier, Mark Walker +9 more

SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome

UNC Libraries(2020)10.17615/tdb3-bx52

N/A

0DataRank · unranked

0 citations

Hemant Bengani, Joseph A. Marsh, Angela M. Kaindl, Koh-ichiro Yoshiura, Katharina Steindl +73 more

Rare germline structural variants increase risk for pediatric solid tumors

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.04.27.591484

N/A

0DataRank · unranked

1 citations

Ryan L. Collins, Jett Crowdis, Amanda Garza, Jill K. Jones, Mark Walker +13 more

Ryan L. Collins

Indexed papers

Top data-sharing exemplar

Papers