Katherine R. Chao

Biochemistry, Genetics and Molecular BiologyMedicine

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

5.1Author DataRank

Indexed papers

4in 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 4 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 harmonized public resource of deeply sequenced diverse human genomes

Genome Research(2024)10.1101/gr.278378.123

Top 8%

2.6DataRank

Top 8%130 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

Papers

Driven by 25 papers — median percentile 71. 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

A harmonized public resource of deeply sequenced diverse human genomes

Genome Research(2024)10.1101/gr.278378.123

Top 8%

2.6DataRank

Top 8%130 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 more

A harmonized public resource of deeply sequenced diverse human genomes

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.23.525248

Top 13%

1.6DataRank

Top 13%48 citations

Mary T. Yohannes, Lethukuthula L. Nkambule, Xuefang Zhao, Julia K. Goodrich, Heesu Ally Kim +16 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

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

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

Human Mutation(2022)10.1002/humu.24366

N/A

0.712DataRank · unranked

114 citations

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

Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.002

N/A

0.578DataRank · unranked

46 citations

Carl Elias Kutzner, Ying Hu, Xavière Lornage, John Rendu, Tanya Stojkovic +42 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

Improved allele frequencies in gnomAD through local ancestry inference

Nature Communications(2025)10.1038/s41467-025-63340-2

Top 45%

0.414DataRank

Top 45%11 citations

Michael W. Wilson, Grace Tiao, Katherine R. Chao, Philip W. Darnowsky, Nicholas A. Watts +7 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829

N/A

0.330DataRank · unranked

8 citations

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

0.104DataRank · unranked

1 citations

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

Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Nature Medicine(2021)10.1038/s41591-021-01346-1

N/A

0DataRank · unranked

153 citations

Sandra Donkervoort, Museer A. Lone, Matthew Nalls, Kenneth Gable, Sita D. Gupta +41 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

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB -related myopathy variant interpretation and disease manifestation

medRxiv(2024)10.1101/2024.03.25.24304535

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more

Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100354

N/A

0DataRank · unranked

0 citations

Rotem Orbach, Safoora Syeda, A. Reghan Foley, Svetlana Gorokhova, Katherine G. Meilleur +6 more

Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy

Genetics in Medicine(2025)10.1016/j.gim.2025.101401

N/A

0DataRank · unranked

4 citations

Maayan Avraham, Sandeep Sarma Asodu, Abigail R. Moye, Riccardo Sangermano, Leah Rizel +19 more

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

Human Genetics and Genomics Advances(2022)10.1016/j.xhgg.2022.100097

N/A

0DataRank · unranked

15 citations

L Bianchi, Francesca Rastelli, Florence Piron‐Prunier, Sophie Ayciriex, Claude Besmond +21 more

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology(2025)10.1002/acn3.70108

N/A

0DataRank · unranked

0 citations

Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li +7 more

FXR1-related congenital myopathy: expansion of the clinical and genetic spectrum

Journal of Medical Genetics(2022)10.1136/jmedgenet-2021-108341

N/A

0DataRank · unranked

4 citations

Cheryl Longman, Maria Elena Farrugia, S. Kapetanovic García, Didem Ardıçlı, Haluk Topaloğlu +15 more

Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype

Blood(2021)10.1182/blood.2021011463

N/A

0DataRank · unranked

28 citations

Ronald M. Kline, Eigil Kjeldsen, Nik F. Nik-Abdul-Rashid, Deepa Bhojwani, Jeffrey M. Verboon +9 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Genetics in Medicine(2023)10.1016/j.gim.2023.101023

N/A

0DataRank · unranked

11 citations

Emily K. Mis, Kirsty McWalter, Sandra Donkervoort, Nina N. Brodsky, Jean-Marie Carpier +95 more

Katherine R. Chao

Indexed papers

Top data-sharing exemplar

Papers