Davide Tonduti

Also affiliated with Center for Children, Ospedale dei Bambini Vittore Buzzi

Biochemistry, Genetics and Molecular BiologyImmunology and Microbiology

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 8 papers. Top paper: “De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation”.

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109048

N/A

0.401DataRank · unranked

11 citations

Brittany A. Charsar, Eline M. Hamilton, Jacqueline Erler, Virali Patel, Sarah Woidill +38 more

Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi–Goutières Syndrome

Frontiers in Immunology(2021)10.3389/fimmu.2021.672952

N/A

0.241DataRank · unranked

4 citations

Silvia Masnada, Francesca Dragoni, Daisy Sproviero, Federico Fogolari, Stella Gagliardi +9 more

Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.07.011

N/A

0DataRank · unranked

1 citations

Davide Politano, Laura Adang, Elena Ballante, Roberta Battini, Enrico Bertini +20 more

Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Human Mutation(2020)10.1002/humu.23975

N/A

0DataRank · unranked

113 citations

Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck +58 more

Critical Functional Domains in Pediatric Onset TUBB4A-Related Leukodystrophy: A Clinical and Caregiver's Perspective

Pediatric Neurology(2025)10.1016/j.pediatrneurol.2025.09.019

N/A

0DataRank · unranked

1 citations

Virali Patel, Jacqueline Erler, Brittany A. Charsar, Ylenia Vaia, Anjana Sevagamoorthy +12 more

The 2021 European Alliance of Associations for Rheumatology/American College of Rheumatology Points to Consider for Diagnosis and Management of Autoinflammatory Type I Interferonopathies: CANDLE/PRAAS, SAVI, and AGS

Arthritis & Rheumatology(2022)10.1002/art.42087

N/A

0DataRank · unranked

47 citations

Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani +27 more

Gross Motor Function in Pediatric Onset TUBB4A -Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in TUBB4A

Journal of Child Neurology(2023)10.1177/08830738231188159

N/A

0DataRank · unranked

10 citations

Virali Patel, Brittany A. Charsar, Allan M. Glanzman, Jacqueline Erler, Anjana Sevagamoorthy +17 more