Jair Tenorio

Also affiliated with Hospital Universitario La Paz, Centre for Biomedical Network Research on Rare Diseases, Centro de Investigación Biomédica en Red, Camilo José Cela University

MedicineBiochemistry, 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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 12 papers. Top paper: “GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19”.

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Nature(2023)10.1038/s41586-023-06034-3

N/A

0.795DataRank · unranked

199 citations

Konrad Rawlik, Andrew D. Bretherick, Ting Qi, Yang Wu, Isar Nassiri +3013 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

0.546DataRank · unranked

37 citations

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

0.241DataRank · unranked

4 citations

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

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

Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension

medRxiv(2022)10.1101/2022.09.02.22279461

N/A

0DataRank · unranked

6 citations

Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf +10 more

Defining the clinical validity of genes reported to cause pulmonary arterial hypertension

Genetics in Medicine(2023)10.1016/j.gim.2023.100925

N/A

0DataRank · unranked

75 citations

Micheala A. Aldred, Srimmitha Balachandar, Dennis Dooijes, Christina A. Eichstaedt, Stefan Gräf +71 more

Adaptation of ACMG/AMP guidelines for clinical classification of BMPR2 variants in Pulmonary Arterial Hypertension resolves variants of unclear pathogenicity in ClinVar

medRxiv(2024)10.1101/2024.11.24.24317862

N/A

0DataRank · unranked

2 citations

Gabriel Maldonado-Velez, Rajiv D. Machado, Srimmitha Balachandar, Florence Coulet, Kristina Day +11 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 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

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

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