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

Pablo Lapunzina

Hospital Universitario La Paz

ORCID: 0000-0002-6324-4825

Also affiliated with Camilo José Cela University, Instituto de Investigación de Enfermedades Raras

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 2%percentile
3.9Author 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.

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005
Top 6%
3.9DataRank
Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Papers

Driven by 13 papers — median percentile 94. Top paper: “The Human Phenotype Ontology in 2024: phenotypes around the world”.

The Human Phenotype Ontology in 2024: phenotypes around the world

Nucleic Acids Research(2023)10.1093/nar/gkad1005
Top 6%
3.9DataRank
Top 6%387 citations

Nicolas A Matentzoglu, Ben D Coleman, Eunice B Addo-Lartey, Anna V. Anagnostopoulos, Joel Anderton +95 more

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.09.005
N/A
0DataRank · unranked
54 citations

Phillip C. Aoto, Erik M.F. Machal, Ana Rivera‐Barahona, Patricia Soto‐Bielicka, Daniela Bertinetti +37 more

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Genome biology(2021)10.1186/s13059-021-02315-0
N/A
0DataRank · unranked
40 citations

Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang +95 more

Novel TNIP2 and TRAF2 Variants Are Implicated in the Pathogenesis of Pulmonary Arterial Hypertension

Frontiers in Medicine(2021)10.3389/fmed.2021.625763
N/A
0DataRank · unranked
18 citations

Natalia Gallego, David Condon, Alejandro Cruz‐Utrilla, Nuria Ochoa Parra, Julián Nevado +9 more

Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology

American Journal of Medical Genetics Part C Seminars in Medical Genetics(2022)10.1002/ajmg.c.31989
N/A
0DataRank · unranked
52 citations

Patricia Morgan, Bimal P. Chaudhari, Isabel Filges, Teresa N. Sparks, Pablo Lapunzina +31 more

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014
N/A
0DataRank · unranked
36 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.009
N/A
0DataRank · unranked
16 citations

Ana Rivera‐Barahona, Carmen‐Lisset Flores, Ghada A. Otaify, Rasha M. Elhossini, Marina Leonor Pérez-Sanz +14 more

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Nature Genetics(2025)10.1038/s41588-025-02159-5
N/A
0DataRank · unranked
44 citations

Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà, Brynjar Ö. Jensson, Emma Hales +47 more

Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases

EBioMedicine(2025)10.1016/j.ebiom.2025.105957
N/A
0DataRank · unranked
8 citations

J. Harry Caufield, Yasemin Bridges, Nicolas A Matentzoglu, Michael Gargano, Mario Cazalla +25 more

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.04.011
N/A
0DataRank · unranked
4 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +32 more

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome

medRxiv(2025)10.1101/2025.05.06.25326635
N/A
0DataRank · unranked
2 citations

Eirny Tholl Thorolfsdottir, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benónísdóttir, Malak Alghamdi +64 more

A six-attribute classification of geneticmosaicism

Genetics in Medicine(2020)10.1038/s41436-020-0877-3
N/A
0DataRank · unranked
85 citations

Jair Tenorio, Julián Nevado, Gema Gordo, Lara Rodríguez‐Laguna, Marta Feito +9 more

Variants in BSN , encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

medRxiv(2025)10.1101/2025.02.10.25321755
N/A
0DataRank · unranked
0 citations

Sarah M. Ruggiero, Shiva Ganesan, Colin A. Ellis, Abiola Harrison, Katie Rose Sullivan +34 more