Ben Weisburd

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

20.8Author DataRank

Indexed papers

6in 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 6 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.

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

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 more

Papers

Driven by 27 papers — median percentile 66. Top paper: “Analysis of protein-coding genetic variation in 60,706 humans”.

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

Nature(2016)10.1038/nature19057

Top 1%

13.0DataRank

Top 1%10410 citations

Monkol Lek, Konrad J. Karczewski, Eric V. Minikel, Kaitlin E. Samocha, Iain Mathieson +76 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

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

Nature Communications(2021)10.1038/s41467-021-23556-4

N/A

2.7DataRank · unranked

110 citations

Moriel Singer‐Berk, Rachel G. Son, Abigail Sveden, Jordan C. Wood, Eleina England +95 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

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

Insights from a genome-wide truth set of tandem repeat variation

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.05.539588

Top 34%

0.580DataRank

Top 34%12 citations

Grace Tiao, Heidi L. Rehm, Ben Weisburd

Defining a tandem repeat catalog and variation clusters for genome-wide analyses

10.1101/2024.10.04.615514

N/A

0.550DataRank · unranked

15 citations

Egor Dolzhenko, Mark F. Bennett, Matt C. Danzi, Isaac R. L. Xu, Hope Tanudisastro +18 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 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

Significant underascertainment in Huntington’s disease

Brain Communications(2025)10.1093/braincomms/fcaf194

N/A

0.165DataRank · unranked

2 citations

Ben Weisburd, Jiwoo Lee, Kevin Correia, Sophia Zeng, Seri S. Park +10 more

A tandem repeat atlas for the genome of inbred mouse strains: A genetic variation resource

iScience(2025)10.1016/j.isci.2025.113703

Top 78%

0.104DataRank

Top 78%1 citations

Weida Liu, Zhuoqing Fang, Egor Dolzhenko, Ben Weisburd, Zhuanfen Cheng +2 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

0DataRank · unranked

54 citations

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

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Brain(2023)10.1093/brain/awad050

N/A

0DataRank · unranked

28 citations

Kristina Ibáñez, Anna‐Leigh Brown, Prasanth Sivakumar, Alessandro Bombaci, Liana Santos +94 more

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes

medRxiv(2020)10.1101/2020.09.22.20195529

N/A

0DataRank · unranked

11 citations

Moriel Singer‐Berk, Rachel G. Son, Abigail Sveden, Jordan C. Wood, Eleina England +95 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0DataRank · unranked

8 citations

Gabrielle Lemire, Maha S. Zaki, Mariel Wissman, Wathone Win, S. White +70 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

0DataRank · unranked

137 citations

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

Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52041

N/A

0DataRank · unranked

23 citations

Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett +25 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

Gabrielle Lemire, Eva Berger, Maha S. Zaki, Mariel Wissmann, Wathone Win +84 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

0DataRank · unranked

6 citations

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

A form of muscular dystrophy associated with pathogenic variants in JAG2

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.020

N/A

0DataRank · unranked

41 citations

Alison M. Barnard, Sanna Puusepp, Sander Pajusalu, Katrin Õunap, Dorianmarie Vargas‐Franco +53 more

seqr : A web‐based analysis and collaboration tool for rare disease genomics

Human Mutation(2022)10.1002/humu.24366

N/A

0DataRank · unranked

112 citations

Hana Snow, Ben Weisburd, Shifa Zhang, Samantha Baxter, Stephanie DiTroia +20 more

Ben Weisburd

Indexed papers

Top data-sharing exemplar

Papers