Christina Austin‐Tse

Also affiliated with Harvard University, Massachusetts General Hospital, Broad Center

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 1%percentile

10.4Author 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.

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 more

Papers

Driven by 29 papers — median percentile 69. Top paper: “Genomic data in the All of Us Research Program”.

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 more

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

JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia

Med(2022)10.1016/j.medj.2021.12.003

N/A

1.1DataRank · unranked

24 citations

Joshua M. Peters, Travis Hughes, Caleb A. Lareau, Leif S. Ludwig, Lucas R. Massoth +12 more

Harmonizing variant classification for return of results in the All of Us Research Program

Human Mutation(2021)10.1002/humu.24317

Top 27%

0.738DataRank

Top 27%17 citations

Christina Austin‐Tse, Serra Kim, Matthew S. Lebo, Annette Leon, David R. Murdock +8 more

The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources

medRxiv(2022)10.1101/2022.01.03.21268593

Top 34%

0.575DataRank

Top 34%17 citations

Scott Goehringer, Lawrence Babb, Fowzan S. Alkuraya, Joanna Amberger, Mutaz Amin +41 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

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM)

Journal of Molecular Diagnostics(2021)10.1016/j.jmoldx.2021.01.014

Top 40%

0.481DataRank

Top 40%8 citations

Alexander Ing, Christian Antolik, Christina Austin‐Tse, Linnea M. Baudhuin, Lucas Bronicki +25 more

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.08.12.248526

N/A

0.385DataRank · unranked

12 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes

Nature Communications(2022)10.1038/s41467-022-32009-5

N/A

0.360DataRank · unranked

10 citations

Valerie N. Morrill, Seung Hoan Choi, Sean J. Jurgens, Giorgio Melloni, Nicholas Marston +39 more

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

medRxiv(2021)10.1101/2021.06.18.21258578

N/A

0.320DataRank · unranked

5 citations

Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia Weber Hall, Lu‐Chen Weng +33 more

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

De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency

iScience(2024)10.1016/j.isci.2024.109984

N/A

0DataRank · unranked

4 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 more

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.01.002

N/A

0DataRank · unranked

42 citations

Sarah L. Stenton, Seth Berger, Paolo Canigiula, Brandy McNulty, Ivo Violich +18 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

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

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

medRxiv(2025)10.1101/2025.04.08.25325442

N/A

0DataRank · unranked

13 citations

Hyung Chul Kim, Ayanfeoluwa Adedeji, Elsa Leitão, Ruebena Dawes, Yuyang Chen +37 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

UNC Libraries(2020)10.17615/n407-9288

N/A

0DataRank · unranked

0 citations

Stephanie D. Davis, Yan Liu, Raqual Bower, Nathan E. Hellman, Douglas Tritschler +27 more

Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases

Journal of Cell Science(2021)10.1242/jcs.258568

N/A

0DataRank · unranked

28 citations

Christina Austin‐Tse, Judith G.M. Bergboer, Elisa Molinari, Yuya Sugano, Ruxandra Bachmann‐Gagescu +3 more

An N-of-1 Trial of Itacitinib for a Patient with Aplastic Anemia Associated with a Gain-of-Function Variant in STAT1

Research Square(2021)10.21203/rs.3.rs-139401/v1

N/A

0DataRank · unranked

1 citations

Travis Hughes, Joshua M. Peters, Caleb A. Lareau, Leif S. Ludwig, Lucas R. Massoth +8 more

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

Human Mutation(2022)10.1002/humu.24366

N/A

0DataRank · unranked

112 citations

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

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

Circulation(2022)10.1161/circulationaha.121.057261

N/A

0DataRank · unranked

50 citations

Valerie N. Morrill, Sean J. Jurgens, Seung Hoan Choi, Amelia W. Hall, Lu-Chen Weng +34 more

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.07.010

N/A

0DataRank · unranked

54 citations

Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin B Currall, Kathryn O’Keefe +40 more

Identification of a de novo mutation in TLK1 associated with a neurodevelopmental disorder and immunodeficiency

medRxiv(2023)10.1101/2023.08.22.23294267

N/A

0DataRank · unranked

1 citations

María Sanchiz-Calvo, Jordann Smak, Lynn Pais, Malika Sud, Uma Shankavaram +11 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

Genome Sequencing for Diagnosing Rare Diseases

New England Journal of Medicine(2024)10.1056/nejmoa2314761

N/A

0DataRank · unranked

189 citations

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

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Christina Austin‐Tse

Indexed papers

Top data-sharing exemplar

Papers