Filippo Pinto e Vairo

ORCID: 0000-0001-6030-1903

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 14 papers. Top paper: “Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome”.

Biallelic splicing variants in the nucleolar 60S assembly factor RBM28 cause the ribosomopathy ANE syndrome

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2017777118

N/A

0.449DataRank · unranked

19 citations

Cláudia Fernandes Lorea, Hiram Larangeira de Almeida, Letícia Schwerz Weinert, Leonardo Vedolin, Filippo Pinto e Vairo +2 more

Haploinsufficiency as a disease mechanism in GNB1‐associated neurodevelopmental disorder

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1477

N/A

0.442DataRank · unranked

18 citations

Ikuo Masuho, Filippo Pinto e Vairo, Christopher T. Schmitz, Tanya L. Schwab, Karl J. Clark +6 more

IL-17 signaling in primary sclerosing cholangitis patient-derived organoids

Hepatology Communications(2024)10.1097/hc9.0000000000000454

N/A

0.425DataRank · unranked

16 citations

Maria Eugenia Guicciardi, Alexander Q. Wixom, Erik Jessen, Jingchun Yang, Sumera I. Ilyas +5 more

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.07.006

N/A

0.396DataRank · unranked

13 citations

Nina Kozar, Ruizhi Duan, stephen bradley, Kenji Yokochi, Fuad Al Mutairi +35 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.08.03.551473

N/A

0.165DataRank · unranked

2 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 more

Developing a scoring system for gene curation prioritization in lysosomal diseases

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108572

N/A

0.104DataRank · unranked

1 citations

Jennifer L Goldstein, Emily Groopman, Shruthi Mohan, Amber Waddell, Raquel Fernandez +10 more

Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.006

N/A

0DataRank · unranked

37 citations

Tanya L. Schwab, Sarah K. Macklin‐Mantia, A. Reghan Foley, Filippo Pinto e Vairo, Davut Pehli̇van +25 more

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62347

N/A

0DataRank · unranked

20 citations

Alejandro Ferrer, Carla Nishimura, Filippo Pinto e Vairo, Tristan Rey, Bruno Leheup +27 more

IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease

Journal of Clinical Investigation(2024)10.1172/jci178692

N/A

0DataRank · unranked

17 citations

Yanyan Zheng, Ines Sturmlechner, Abhinav Jain, Maryam Own, Qiankun Yang +9 more

Role for the Na + /K + ATPase pump alpha 3 ( ATP1A3 ) subunit in folding and lamination of the human neocortex

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.10.03.319137

N/A

0DataRank · unranked

1 citations

Marta Florio, Shyam K. Akula, Jennifer E. Neil, Yidi Wang, R. Sean Hill +15 more

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

European Journal of Human Genetics(2024)10.1038/s41431-024-01576-0

N/A

0DataRank · unranked

5 citations

Kim Lee Ng, Filippo Pinto e Vairo, James Collins, Ronald D. Cohn, Kacie Riley +6 more

Assessment of genes involved in lysosomal diseases using the ClinGen clinical validity framework

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108593

N/A

0DataRank · unranked

1 citations

Shruthi Mohan, Amber Waddell, Matheus Vernet Machado Bressan Wilke, Raquel Fernández, Meredith Weaver +13 more

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.09.012

N/A

0DataRank · unranked

17 citations

Alejandro Garanto, Filippo Pinto e Vairo, Bobby G. Ng, Wasantha Ranatunga, Marina Ventouratou +30 more

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

Nature Communications(2025)10.1038/s41467-025-56378-9

N/A

0DataRank · unranked

7 citations

Guillermo Rodríguez Bey, Talia DeFrancesco Oranburg, Kseniia Dudnyk, Santana M. Lardo, Nathan Herdman +28 more