Monkol Lek

Biochemistry, Genetics and Molecular BiologyMedicineNeuroscience

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

55.8Author DataRank

Indexed papers

11in 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 11 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 47 papers — median percentile 95. 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 global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

Correction: Corrigendum: Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Scientific Reports(2016)10.1038/srep19384

N/A

10.4DataRank · unranked

722 citations

Tao Huang, Francesca Petralia, Quan Long, Bin Zhang, Carmen Argmann +129 more

Genetic effects on gene expression across human tissues

Nature(2017)10.1038/nature24277

Top 1%

10.1DataRank

Top 1%4706 citations

Barbara E. Engelhardt, Stephen B. Montgomery, Sara Mostafavi, Ayellet V. Segrè, Hailei Zhang +227 more

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature Communications(2014)10.1038/ncomms4934

Top 2%

8.3DataRank

Top 2%460 citations

Jonathan Marchini, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers +364 more

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel

Nature Communications(2015)10.1038/ncomms9111

Top 3%

6.7DataRank

Top 3%386 citations

Bryan Howie, Shane McCarthy, Yasin Memari, Klaudia Walter, Josine L. Min +234 more

Mitochondrial DNA variation across 56,434 individuals in gnomAD

Genome Research(2022)10.1101/gr.276013.121

Top 6%

3.6DataRank

Top 6%156 citations

Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier +12 more

Genetic effects on gene expression across human tissues

UNC Libraries(2020)10.17615/p82n-gb73

Top 8%

2.6DataRank

Top 8%63 citations

Yuan He, Lin Chen, Emmanouil T. Dermitzakis, Philip A. Branton, Andrew B. Nobel +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

Quantifying constraint in the human mitochondrial genome

Nature(2024)10.1038/s41586-024-08048-x

N/A

1.1DataRank · unranked

58 citations

Kaiyue Ma, Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao +12 more

Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Nature Communications(2023)10.1038/s41467-023-41785-7

N/A

1.1DataRank · unranked

44 citations

Stephanie L. Battle, Wen Shi, Daniela Puiu, Vamsee Pillalamarri, Jiaqi Xie +21 more

Effect of predicted protein-truncating genetic variants on the human transcriptome

Science(2015)10.1126/science.1261877

N/A

0.877DataRank · unranked

345 citations

Matti Pirinen, Donald F. Conrad, Monkol Lek, Emily K. Tsang, Konrad J. Karczewski +206 more

Synchronized age-related gene expression changes across multiple tissues in human and the link to complex diseases

Scientific Reports(2015)10.1038/srep15145

N/A

0.811DataRank · unranked

222 citations

Tao Huang, Francesca Petralia, Quan Long, Bin Zhang, Carmen Argmann +128 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

Mitochondrial DNA variation across 56,434 individuals in gnomAD

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.23.453510

Top 27%

0.757DataRank

Top 27%20 citations

Nicole J. Lake, Nicholas A. Watts, Megan Shand, Andrea Haessly, Laura D. Gauthier +12 more

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

npj Genomic Medicine(2020)10.1038/s41525-020-00144-x

N/A

0.668DataRank · unranked

85 citations

Mullin H.C. Yu, Shushu Huang, Claudia Ching Yan Chung, Marcus C.Y. Chan, Sander Pajusalu +7 more

ZBTB33 Is Mutated in Clonal Hematopoiesis and Myelodysplastic Syndromes and Impacts RNA Splicing

Blood Cancer Discovery(2021)10.1158/2643-3230.bcd-20-0224

N/A

0.571DataRank · unranked

44 citations

Matthew Leventhal, Elsa Bernard, Emma R. Hoppe, Gabriele Todisco, Maria Creignou +38 more

Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis

Nature Genetics(2023)10.1038/s41588-023-01424-9

N/A

0.550DataRank · unranked

38 citations

Silvio Alessandro Di Gioia, Bryn D. Webb, Wai‐Man Chan, Elke de Boer, Sarah J. Garnai +53 more

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human Molecular Genetics(2023)10.1093/hmg/ddad069

N/A

0.505DataRank · unranked

28 citations

Daniella H. Hock, Nicole J. Lake, Sarah E. Calvo, Sabine Grønborg, Emma Krzesinski +14 more

A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders

Nature Communications(2024)10.1038/s41467-024-52463-7

N/A

0.389DataRank · unranked

9 citations

Lauren J. Ayers, Michael Kosicki, Wai‐Man Chan, Lydia Fozo, Brandon M. Pratt +22 more

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

Brain(2023)10.1093/brain/awad039

N/A

0.385DataRank · unranked

12 citations

Tracy Lau, Homa Tajsharghi, Ehsan Ghayoor Karimiani, Ariana Kariminejad, Yichao Yu +95 more

Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms

Nature Communications(2024)10.1038/s41467-024-54443-3

N/A

0.360DataRank · unranked

10 citations

Sergiu Paşca, Wen Shi, Daniela Puiu, Nicole J. Lake, Monkol Lek +9 more

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.52127

Top 60%

0.252DataRank

Top 60%4 citations

Shannon McNulty, Courtney L Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers +25 more

Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

Cell Death and Disease(2023)10.1038/s41419-023-06257-2

N/A

0.241DataRank · unranked

4 citations

Shushu Huang, Katherine Koczwara, Kristen T. Woods, Vincent Ho, Keryn G. Woodman +6 more

Translating multiscale research in rare disease

Disease Models & Mechanisms(2024)10.1242/dmm.052009

N/A

0.104DataRank · unranked

1 citations

Monica J. Justice, Monkol Lek, Karen Liu, Katherine A. Rauen, Kirsty M. Hooper

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

medRxiv(2024)10.1101/2024.12.22.24319370

N/A

0.104DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +30 more

Quantifying constraint in the human mitochondrial genome

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.12.16.520778

N/A

0DataRank · unranked

10 citations

Wei Liu, Stephanie L. Battle, Kristen M. Laricchia, Grace Tiao, Daniela Puiu +9 more

Profilin1 is required for prevention of mitotic catastrophe in murine and human glomerular diseases

Journal of Clinical Investigation(2023)10.1172/jci171237

N/A

0DataRank · unranked

28 citations

Christopher E. Pedigo, Ke Li, Xiaotao Ma, Patricia Bunda, John Pell +16 more

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

Scientific Reports(2021)10.1038/s41598-021-97046-4

N/A

0DataRank · unranked

21 citations

Naoe Harafuji, Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar +9 more

Free sialic acid storage disorder: Progress and promise

Neuroscience Letters(2021)10.1016/j.neulet.2021.135896

N/A

0DataRank · unranked

45 citations

Mary E. Hackbarth, David R. Adams, Melissa Wasserstein, Marc C. Patterson, Steven U. Walkley +11 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

Flavones provide resistance to DUX4-induced toxicity via an mTor-independent mechanism

Research Square(2023)10.21203/rs.3.rs-2452222/v1

N/A

0DataRank · unranked

1 citations

Shushu Huang, Katherine Koczwara, Vincent Ho, Keryn G. Woodman, Angela Lek +4 more

Insights into dispersed duplications and complex structural mutations from whole genome sequencing 706 families

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.03.235358

N/A

0DataRank · unranked

0 citations

Robert E. Handsaker, Giulio Genovese, Seva Kashin, Monkol Lek, Jason D. Hughes +5 more

Glis2 is an early effector of polycystin signaling and a target for therapy in polycystic kidney disease

Nature Communications(2024)10.1038/s41467-024-48025-6

N/A

0DataRank · unranked

25 citations

Michael Rehman, Xin Tian, Steven Lim Cho Pei, Jianlei Gu, Thomas A. Bell +10 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

Saturation mutagenesis-reinforced functional assays for disease-related genes

Cell(2024)10.1016/j.cell.2024.08.047

N/A

0DataRank · unranked

21 citations

Shushu Huang, Kenneth Ng, Nicole J. Lake, Soumya Joseph, J. Xu +11 more

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.02.18.946285

N/A

0DataRank · unranked

1 citations

Amber K. O’Connor, Robert A. Kesterson, Jacob A. Watts, Amar J. Majmundar, Daniela A. Braun +7 more

Quantifying prion disease penetrance using large population control cohorts

UNC Libraries(2020)10.17615/m8r0-g416

N/A

0DataRank · unranked

1 citations

Hidehiro Mizusawa, Pamela Sklar, Nobuo Sanjo, Miguel Calero, Theo F. J. Kraus +58 more

Cellular and animal models for facioscapulohumeral muscular dystrophy

Disease Models & Mechanisms(2020)10.1242/dmm.046904

N/A

0DataRank · unranked

17 citations

Justin Cohen, Monkol Lek, Angela Lek, Alec M. DeSimone

The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy

medRxiv(2024)10.1101/2024.03.29.24304673

N/A

0DataRank · unranked

2 citations

Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach +64 more

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

UNC Libraries(2020)10.17615/3we9-ae42

Top 100%

0DataRank

Top 100%0 citations

David S. DeLuca, Ayellet V. Segrè, Timothy J. Sullivan, Timothy R. Young, Ellen T. Gelfand +27 more

Mitochondrial heteroplasmy improves risk prediction for myeloid neoplasms

medRxiv(2024)10.1101/2024.04.07.24305454

N/A

0DataRank · unranked

0 citations

Sergiu Paşca, Wen Shi, Daniela Puiu, Nicole J. Lake, Monkol Lek +9 more

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.05.03.592369

N/A

0DataRank · unranked

0 citations

Shannon McNulty, Courtney L Thaxton, Marwa Elnagheeb, Emma Owens, May Flowers +25 more

Precision multiplexed base editing in human cells using Cas12a-derived base editors

Nature Communications(2025)10.1038/s41467-025-59653-x

N/A

0DataRank · unranked

7 citations

Etowah W. Adams, Michael T. A. Nguyen, Monkol Lek, Farren J. Isaacs, Anabel Y. Schweitzer

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100441

N/A

0DataRank · unranked

1 citations

Kristen M. Laricchia, Nicole J. Lake, Sushma Chaluvadi, Vijay Ganesh, Stephanie DiTroia +31 more

Deleterious heteroplasmic mitochondrial mutations increase risk of overall and cancer-specific mortality

medRxiv(2022)10.1101/2022.09.20.22280151

N/A

0DataRank · unranked

2 citations

Yun Soo Hong, Wen Shi, Daniela Puiu, Vamsee Pillalamarri, Nathan Pankratz +5 more

Monkol Lek

Indexed papers

Top data-sharing exemplar

Papers