🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Sander Pajusalu

Tartu University Hospital

ORCID: 0000-0002-5435-0781

Also affiliated with University of Tartu

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 5%percentile
0.406Author DataRank

Indexed papers

1in 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 1 indexed paper 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 →

Top data-sharing exemplar

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121
Top 45%
0.406DataRank
Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 more

Papers

Driven by 18 papers — median percentile 55. Top paper: “Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease”.

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

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Human Mutation(2024)10.1155/2024/8813121
Top 45%
0.406DataRank
Top 45%10 citations

Mari‐Anne Vals, Mercedes Serrano, Peter Witters, Anna Čechová, Tomáš Honzík +20 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
0DataRank · unranked
85 citations

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

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

European Journal of Human Genetics(2020)10.1038/s41431-020-0571-6
N/A
0DataRank · unranked
38 citations

Sophie Nambot, Laurence Faivre, Ghayda Mirzaa, Julien Thévenon, Ange‐Line Bruel +60 more

POLRMT mutations impair mitochondrial transcription causing neurological disease

Nature Communications(2021)10.1038/s41467-021-21279-0
N/A
0DataRank · unranked
60 citations

Bradley Peter, Zsolt Szilágyi, Héctor Díaz-Maldonado, Meenakshi Singh, Ewen W. Sommerville +34 more

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

Science Advances(2021)10.1126/sciadv.abe2116
N/A
0DataRank · unranked
50 citations

Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara +28 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

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

Journal of Clinical Investigation(2021)10.1172/jci140625
N/A
0DataRank · unranked
39 citations

Marisa M. Brockmann, Jinye Dai, Sander Pajusalu, Burcu Atasu, Joaquín Campos +30 more

Human skeletal myopathy myosin mutations disrupt myosin head sequestration

JCI Insight(2023)10.1172/jci.insight.172322
N/A
0DataRank · unranked
15 citations

Abbi Hau, Sarah Kosta, Hannah F. Dugdale, Francesco Muntoni, Adele D’Amico +14 more

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

medRxiv(2023)10.1101/2023.08.08.23293829
N/A
0DataRank · 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
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

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

Monte Carlo Simulation Analysis of Variant Burden Prompts Potential Oligogenic Interactions

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.64898/2025.12.27.696666
N/A
0DataRank · unranked
0 citations

Markus Marandi, Jaan Märten Huik, Katrin Õunap, Sander Pajusalu, Jaan Marten Huik +1 more

The phenotypic spectrum of PTCD3 deficiency

JIMD Reports(2024)10.1002/jmd2.12424
N/A
0DataRank · unranked
0 citations

Eissa Faqeih, Namik Kaya, Zita Krūmiņa, Johannes A. Mayr, Ieva Mičule +8 more

Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2019.12.007
N/A
0DataRank · unranked
114 citations

Ana Petracovici, Chongsheng He, Hannah W. Moore, Raymond J. Louie, Muhammad Ansar +27 more