Moriel Singer‐Berk

Biochemistry, Genetics and Molecular Biology

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 4%percentile

0.920Author DataRank

Indexed papers

2in 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 2 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.

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.12.593113

Top 38%

0.503DataRank

Top 38%12 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +6 more

Papers

Driven by 18 papers — median percentile 59. Top paper: “Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes”.

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

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0.789DataRank · unranked

192 citations

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

The landscape of tolerated genetic variation in humans and primates

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.01.538953

N/A

0.782DataRank · unranked

24 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

The landscape of tolerated genetic variation in humans and primates

Science(2023)10.1126/science.abn8197

N/A

0.780DataRank · unranked

180 citations

Tobias Hamp, Jeffrey M. Ede, Joshua G. Schraiber, Jeremy F. McRae, Moriel Singer‐Berk +92 more

Transcript expression-aware annotation improves rare variant discovery and interpretation

bioRxiv (Cold Spring Harbor Laboratory)(2019)10.1101/554444

N/A

0.746DataRank · unranked

20 citations

Konrad J. Karczewski, Ditte Demontis, Eleanor G. Seaby, Nicholas A. Watts, Moriel Singer-Berk +14 more

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Genetics in Medicine(2022)10.1016/j.gim.2022.11.020

N/A

0.590DataRank · unranked

50 citations

Erica Julianne Lay, Claudia Soler‐Alfonso, Kevin E. Glinton, Kimberly Houck, Mustafa Tosur +29 more

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

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.06.12.593113

Top 38%

0.503DataRank

Top 38%12 citations

Moriel Singer‐Berk, Sarah L. Stenton, Julia K. Goodrich, Michael W. Wilson, Jonah Einson +6 more

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)10.1016/j.ajhg.2024.03.008

N/A

0.489DataRank · unranked

25 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 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

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

medRxiv(2023)10.1101/2023.09.27.23294269

N/A

0DataRank · unranked

1 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +50 more

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

medRxiv(2023)10.1101/2023.10.05.23296595

N/A

0DataRank · unranked

1 citations

Alba Sanchis‐Juan, Kathryn Russell, Samantha Baxter, Katherine R. Chao, Moriel Singer‐Berk +59 more

Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data

medRxiv(2023)10.1101/2023.03.08.23286955

N/A

0DataRank · unranked

4 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 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

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100273

N/A

0DataRank · unranked

3 citations

Kamli N. W. Faour, Akiko Shimamura, Graeme R. Grimes, Emeline M. Kao, Erica R. Denhoff +51 more

Advanced variant classification framework reduces the false positive rate of predicted loss-of-function variants in population sequencing data

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.08.005

N/A

0DataRank · unranked

30 citations

Sanna Gudmundsson, Samantha Baxter, Eleanor G. Seaby, Eleina England, Jordan C. Wood +8 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

Moriel Singer‐Berk

Indexed papers

Top data-sharing exemplar

Papers