Jessica X. Chong

Also affiliated with Bay Institute, Brotman Baty Institute

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 3%percentile

1.2Author 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.

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100371

Top 39%

0.489DataRank

Top 39%12 citations

Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C Carmody +30 more

Papers

Driven by 46 papers — median percentile 30. Top paper: “Beyond the exome: What’s next in diagnostic testing for Mendelian conditions”.

Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.06.009

N/A

2.2DataRank · unranked

123 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +91 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

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100371

Top 39%

0.489DataRank

Top 39%12 citations

Michael J Bamshad, Yasemin Bridges, Andrés Caballero-Oteyza, Pilar Cacheiro, Leigh C Carmody +30 more

8q24 genetic variation and comprehensive haplotypes altering familial risk of prostate cancer

Nature Communications(2020)10.1038/s41467-020-15122-1

N/A

0.457DataRank · unranked

20 citations

Joan P. Breyer, W. Dale Plummer, Sam S. Chang, Michael S. Cookson, Joseph A. Smith +6 more

A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery

medRxiv(2024)10.1101/2024.05.29.24308104

Top 51%

0.345DataRank

Top 51%9 citations

Michael J Bamshad, Yasemin Bridges, Pilar Cacheiro, Leigh C Carmody, Jessica X. Chong +27 more

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63185

N/A

0.292DataRank · unranked

6 citations

Aniko Sabo, Lynn M. Almli, Mary M. Jenkins, Wendy N. Nembhard, A. J. Agopian +28 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Exome-wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

UNC Libraries(2024)10.17615/2btg-0082

Top 62%

0.224DataRank

Top 62%2 citations

Jessica X. Chong, NISC Comparative Sequencing Program University of Washington Center for Mendelian Genomics, Jennifer E. Posey, Cynthia A. Moore, Sanjiv Harpavat +29 more

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split‐Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study

Birth Defects Research(2025)10.1002/bdr2.2472

N/A

0.104DataRank · unranked

1 citations

Denise M. Kay, Faith Pangilinan, Lynn M. Almli, Mary M. Jenkins, Elizabeth Blue +24 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

medRxiv(2024)10.1101/2024.11.19.24317561

Top 78%

0.104DataRank

Top 78%1 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62874

N/A

0DataRank · unranked

8 citations

Wei Yang, Yuejun Wang, Chen Ma, Cynthia J. Curry, Daniel McGoldrick +21 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100213

N/A

0DataRank · unranked

18 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1

American Journal of Ophthalmology(2023)10.1016/j.ajo.2023.10.011

N/A

0DataRank · unranked

8 citations

Jessica X. Chong, Doug D. Chung, Walter Lisch, Carol L. Karp, Erling Dreisler +16 more

Rare variants in CAPN2 increase risk for isolated hypoplastic left heart syndrome

Human Genetics and Genomics Advances(2023)10.1016/j.xhgg.2023.100232

N/A

0DataRank · unranked

2 citations

Janson J. White, Michael Dush, William W. Gordon, Brent Wyatt, Peter White +22 more

Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects

medRxiv(2023)10.1101/2023.03.07.23286862

N/A

0DataRank · unranked

0 citations

Matthew C. Childers, Colby T. Marvin, Anthony J. Marcello, Hernán Gonorazky, Lili‐Naz Hazrati +13 more

ERBB2 R599C variant is associated with left ventricular outflow tract obstruction defects in human

medRxiv(2023)10.1101/2023.11.17.23297969

N/A

0DataRank · unranked

0 citations

Sabina Selenius, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg +9 more

STR mutations on chromosome 15q cause thyrotropin resistance by activating a primate-specific enhancer of MIR7-2/MIR1179

Nature Genetics(2024)10.1038/s41588-024-01717-7

N/A

0DataRank · unranked

24 citations

Alexandra M. Dumitrescu, Xiao-Hui Liao, Elliott Swanson, Roy E. Weiss, Panudda Srichomkwun +17 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

Genetics in Medicine(2024)10.1016/j.gim.2024.101199

N/A

0DataRank · unranked

14 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +89 more

Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.001

N/A

0DataRank · unranked

9 citations

Anji T. Yetman, Malenka M. Bissell, Yuli Y. Kim, Héctor I. Michelena, Julie De Backer +16 more

Genetic modifiers of body mass index in individuals with cystic fibrosis

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.08.004

N/A

0DataRank · unranked

4 citations

Karen S. Raraigh, Elizabeth Pugh, Melis A. Aksit, Peng Zhang, Rhonda G. Pace +39 more

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease

Kidney International Reports(2024)10.1016/j.ekir.2024.09.013

N/A

0DataRank · unranked

4 citations

Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki +63 more

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study

Birth Defects Research(2024)10.1002/bdr2.2384

N/A

0DataRank · unranked

2 citations

Kristin J. Moore, K.E. North, Tania A. Desrosiers, Suzan L. Carmichael, Janson J. White +19 more

Considerations for reporting variants in novel candidate genes identified during clinical genomic testing

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.02.05.579012

N/A

0DataRank · unranked

3 citations

Seth Berger, Samantha Baxter, Erica D. Smith, Changrui Xiao, Daniel G. Calame +6 more

Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications

medRxiv(2024)10.1101/2024.02.07.24302406

N/A

0DataRank · unranked

2 citations

Anji T. Yetman, Malenka M. Bissell, Yuli Y. Kim, Héctor I. Michelena, Dawn S. Hui +16 more

CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease

medRxiv(2024)10.1101/2024.04.05.24304760

N/A

0DataRank · unranked

0 citations

Takuya Fujimaru, Chunyu Liu, Karynne Patterson, Kouhei Yamamoto, Takefumi Suzuki +18 more

Exome sequencing identifies genetic variants in anophthalmia and microphthalmia

UNC Libraries(2024)10.17615/94re-8d47

N/A

0DataRank · unranked

0 citations

Wendy N. Nembhard, Paul A. Romitti, Marcia L. Feldkamp, Y.J. Wang, Andrew F. Olshan +22 more

Exome sequencing of family trios from the National Birth Defects Prevention Study: Tapping into a rich resource of genetic and environmental data

UNC Libraries(2024)10.17615/j34v-vj41

Top 100%

0DataRank

Top 100%0 citations

Wendy N. Nembhard, Shiran Shapira, Andrew F. Olshan, Elizabeth Blue, Nanette M. Nascone‐Yoder +27 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.02.003

N/A

0DataRank · unranked

16 citations

Abbey Scott, Lukas Kruidenier, Megan Sikes, Alexandra Keefe, Kati J. Buckingham +28 more

The ERBB2 c.1795C>T, p.Arg599Cys variant is associated with left ventricular outflow tract obstruction defects in humans

Human Genetics and Genomics Advances(2025)10.1016/j.xhgg.2025.100446

N/A

0DataRank · unranked

1 citations

Sabina Ericsson, Ilkka Paatero, Iftekhar Chowdhury, Jenna Villman, Martin Broberg +10 more

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

medRxiv(2025)10.1101/2025.11.07.25339764

N/A

0DataRank · unranked

3 citations

Adriana E. Sedeño-Cortés, Jane Ranchalis, Katherine M. Munson, Mitchell R. Vollger, Elsa Balton +15 more

Similarities and Differences in the Late-Onset GM2 Gangliosidoses: Tay-Sachs and Sandhoff Diseases

medRxiv(2025)10.1101/2025.08.05.25333048

N/A

0DataRank · unranked

1 citations

Leila Shirvan, Jean M. Johnston, Catherine Groden, John Yang, Andrea Ashton +13 more

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103429

Top 100%

0DataRank

Top 100%0 citations

Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg +58 more

Cell Modeling and Rescue of a Novel Non-coding Genetic Cause of Glycogen Storage Disease IX

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.14.654043

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +13 more

Cell modeling and rescue of a novel noncoding genetic cause of glycogen storage disease IX

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103474

N/A

0DataRank · unranked

0 citations

Xue Zou, Jian Dai, R. A. Francis, Alexias Safi, Karynne Patterson +14 more

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia

EBioMedicine(2020)10.1016/j.ebiom.2020.103075

N/A

0DataRank · unranked

18 citations

Fabiana Csukasi, Michaela Kunova Bosakova, Jorge Martı́n, Wenjuan Zhang, S. Paige Taylor +10 more

Exome-wide rare variant analysis in familial essential tremor

Parkinsonism & Related Disorders(2020)10.1016/j.parkreldis.2020.11.021

N/A

0DataRank · unranked

15 citations

Gabrielle Houle, Sara Ortega‐Cubero, Sara Bandrés‐Ciga, Ignacio Álvarez, María Cárcel +28 more

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Targeted long-read sequencing resolves complex structural variants and identifies missing disease-causing variants

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.03.365395

N/A

0DataRank · unranked

10 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +32 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555

N/A

0DataRank · unranked

1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006

N/A

0DataRank · unranked

0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5

Carolina Digital Repository (University of North Carolina at Chapel Hill)(2020)10.17615/x8dg-7b55

N/A

0DataRank · unranked

0 citations

Alan Fryer, Koenraad Devriendt, Richard H. Scott, Jules G. Leroy, Ingrid P.C. Krapels +27 more

Targeted long-read sequencing identifies missing disease-causing variation

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.06.006

N/A

0DataRank · unranked

242 citations

Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson +45 more

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100051

N/A

0DataRank · unranked

8 citations

Rachel B. Keller, Brecht Guillemyn, Melanie Pepin, Jane E. Corteville, Samir Khatib +13 more

Precision medicine for developmental and epileptic encephalopathies in Africa—strategies for a resource-limited setting

Genetics in Medicine(2022)10.1016/j.gim.2022.11.002

N/A

0DataRank · unranked

12 citations

Nicki Tiffin, Gillian Riordan, Marie Wessels, Richard J. Burman, Miriam C. Aziz +49 more

Jessica X. Chong

Indexed papers

Top data-sharing exemplar

Papers