Claudia Gonzaga‐Jauregui

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 2%percentile

2.5Author 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.

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Genome Research(2024)10.1101/gr.279273.124

Top 13%

1.7DataRank

Top 13%78 citations

Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe +42 more

Papers

Driven by 27 papers — median percentile 81. Top paper: “High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation”.

High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation

Genome Research(2024)10.1101/gr.279273.124

Top 13%

1.7DataRank

Top 13%78 citations

Sophia B Gibson, Nikhita Damaraju, Miranda Pg Zalusky, Kendra Hoekzema, David Twesigomwe +42 more

Similar burden of pathogenic coding variants in exceptionally long‐lived individuals and individuals without exceptional longevity

Aging Cell(2020)10.1111/acel.13216

Top 25%

0.806DataRank

Top 25%13 citations

Gabriel Lidzbarsky, Sofiya Milman, Tina Gao, Patrick Sin‐Chan, Claudia Gonzaga‐Jauregui +5 more

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2024.12.009

N/A

0.165DataRank · unranked

2 citations

Deborah Ritter, Danielle R. Azzariti, Jonathan S. Berg, Joanna E. Bulkley, Mildred K. Cho +12 more

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism

Bone(2020)10.1016/j.bone.2019.115219

N/A

0DataRank · unranked

19 citations

Kristina Cusmano‐Ozog, Rainer Koenig, Manuel Holtgrewe, Banu Nur, Ercan Mıhçı +16 more

Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide

European Journal of Human Genetics(2020)10.1038/s41431-020-0632-x

N/A

0DataRank · unranked

40 citations

Gözde Yeşil, Harikiran Nistala, Alper Gezdirici, Yavuz Bayram, Kalyan C. Nannuru +32 more

Functional modeling of NMIHBA-causing PRUNE1 variants reveals a requirement for its exopolyphosphatase activity

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.03.02.973909

N/A

0DataRank · unranked

1 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

medRxiv(2020)10.1101/2020.10.26.20217109

N/A

0DataRank · unranked

0 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

Genome Medicine(2021)10.1186/s13073-021-00891-1

N/A

0DataRank · unranked

86 citations

Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob Hagen, Xueya Zhou +89 more

Evolution and long‐term outcomes of combined immunodeficiency due to CARMIL2 deficiency

Allergy(2021)10.1111/all.15010

N/A

0DataRank · unranked

49 citations

Dilek Başer, Bengü Akçam, Jeffrey J. Danielson, Sevgi Bilgiç Eltan, Yeşim Haliloğlu +31 more

Pathogenic variants in SMARCA5 , a chromatin remodeler, cause a range of syndromic neurodevelopmental features

Science Advances(2021)10.1126/sciadv.abf2066

N/A

0DataRank · unranked

33 citations

Qin Wang, Naihua N. Gong, Alina Kurolap, Hagit Baris Feldman, Nikolas Boy +33 more

Homozygous IL37 mutation associated with infantile inflammatory bowel disease

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2009217118

N/A

0DataRank · unranked

25 citations

Yu Zhang, Tingyan He, Colin L. Sweeney, Safa Barış, Elif Karakoç-Aydıner +10 more

Exome-based investigation of the genetic basis of human pigmentary glaucoma

BMC Genomics(2021)10.1186/s12864-021-07782-0

N/A

0DataRank · unranked

14 citations

Wes Goar, Kacie J. Meyer, Wallace L.M. Alward, Erin A. Boese, Nathaniel C. Sears +17 more

A de novo paradigm for male infertility

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.02.27.433155

N/A

0DataRank · unranked

1 citations

RM Smits, H E Smith, FK Mastrorosa, GS Holt, BJ Houston +35 more

Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH.

White Rose Research Online (University of Leeds, The University of Sheffield, University of York)(2021)10.17863/cam.71232

N/A

0DataRank · unranked

0 citations

Emilia M. Swietlik, Carrie L. Welch, Michael W. Pauciulo, Jacob Hagen, Xueya Zhou +20 more

Mucus sialylation determines intestinal host-commensal homeostasis

Cell(2022)10.1016/j.cell.2022.02.013

N/A

0DataRank · unranked

237 citations

Girak Kim, Samantha Shafer, Zuojia Chen, Satoshi Kubo, Yanlong Ji +45 more

A de novo paradigm for male infertility

Nature Communications(2022)10.1038/s41467-021-27132-8

N/A

0DataRank · unranked

99 citations

RM Smits, H E Smith, Francesco Mastrorosa, Giles Holt, Brendan J. Houston +59 more

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

Nature Communications(2022)10.1038/s41467-022-34349-8

N/A

0DataRank · unranked

42 citations

John J. Reynolds, Farid Ullah, Bertrand Isidor, Robert F. Shearer, Xénia Latypova +43 more

NPRL3 loss alters neuronal morphology, mTOR localization, cortical lamination and seizure threshold

Brain(2022)10.1093/brain/awac044

N/A

0DataRank · unranked

33 citations

Mariah E. Everett, Katherine Cobb-Pitstick, Lauren E. Bowser, Allan Barnes, Janice K. Babus +9 more

Clinical validity assessment of genes frequently tested on intellectual disability/autism sequencing panels

Genetics in Medicine(2022)10.1016/j.gim.2022.05.001

N/A

0DataRank · unranked

25 citations

Taylor I. Bingaman, Carrie-Ann Barry, Andrea Behlmann, Krista Bluske, Bret L. Bostwick +36 more

Editorial: Chromosome structural variants: Epidemiology, identification and contribution to human diseases

Frontiers in Genetics(2022)10.3389/fgene.2022.1022918

N/A

0DataRank · unranked

0 citations

D. David, Claudia Gonzaga‐Jauregui, Cynthia C. Morton, Cinthya Zepeda‐Mendoza, Zirui Dong

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features

Human Molecular Genetics(2023)10.1093/hmg/ddad124

N/A

0DataRank · unranked

7 citations

Baozhong Xin, Iris Nira Smith, Valerie Sency, Julia Szekely, Anna Alkelai +49 more

Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome

Circulation Genomic and Precision Medicine(2024)10.1161/circgen.124.004614

N/A

0DataRank · unranked

4 citations

Christina Y. Miyake, Claudia Gonzaga‐Jauregui, Yuriana Aguilar-Sánchez, Mohit Hulsurkar, Satadru K. Lahiri +8 more

Drug–device combinations in rare diseases: Challenges and opportunities

Drug Discovery Today(2025)10.1016/j.drudis.2025.104343

N/A

0DataRank · unranked

4 citations

Marc Dooms, Claudia Gonzaga‐Jauregui, Anna M.G. Pasmooij, Daniel O’Connor, Anneke Jonker +1 more

Prevalence and Clinical Features of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified by Whole-Exome Sequencing in 1000 Children at a Single Center

Gastroenterology(2020)10.1053/j.gastro.2020.02.023

N/A

0DataRank · unranked

119 citations

Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler +26 more

A rare variant in GPR156 associated with depression in a Mennonite pedigree causes habenula hyperactivity and stress sensitivity in mice

Proceedings of the National Academy of Sciences(2025)10.1073/pnas.2404754122

N/A

0DataRank · unranked

1 citations

Claudia Gonzaga‐Jauregui, Karlla W. Brigatti, Joop de Jong, Robert Breese, Seung Yeon Ko +34 more

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

Blood(2020)10.1182/blood.2020006738

N/A

0DataRank · unranked

100 citations

Sevgi Köstel Bal, Emily S.J. Edwards, Bethany Pillay, Raúl Jiménez Heredia, Funda Çipe +63 more

NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity

Human Molecular Genetics(2020)10.1093/hmg/ddaa237

N/A

0DataRank · unranked

19 citations

John Dronzek, Claudia Gonzaga‐Jauregui, Shek Man Chim, Saathyaki Rajamani, Samer J. Nuwayhid +20 more

Claudia Gonzaga‐Jauregui

Indexed papers

Top data-sharing exemplar

Papers