Francesco Gavazzi

Also affiliated with University of Pennsylvania

Immunology and MicrobiologyBiochemistry, Genetics and Molecular BiologyMedicine

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 22 papers. Top paper: “Hematologic abnormalities in Aicardi Goutières Syndrome”.

Hematologic abnormalities in Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.06.003

N/A

0.701DataRank · unranked

18 citations

Francesco Gavazzi, Russell D’Aiello, David Isaacs, Nowa Bronner, Zehra Serap Arıcı +14 more

Development of a neurologic severity scale for Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2020)10.1016/j.ymgme.2020.03.008

N/A

0DataRank · unranked

49 citations

Francesco Gavazzi, Abbas F. Jawad, Stacy V. Cusack, Kimberly Kopin, Kyle Peer +9 more

Hodgkin lymphoma in an individual with TREX1‐mediated Aicardi Goutières syndrome

Pediatric Blood & Cancer(2021)10.1002/pbc.29322

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0DataRank · unranked

3 citations

Jamie L. Fraser, Miriam Bloom, Laura Tochen, Jullie Rhee, Megan Kwan +6 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

SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.10.001

N/A

0DataRank · unranked

2 citations

Mohamad‐Gabriel Alameh, Sarah Woidill, Julia Hacker, Benjamin Davis, Guy Helman +13 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

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0DataRank · unranked

10 citations

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

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome

Journal of Child Neurology(2023)10.1177/08830738231188753

N/A

0DataRank · unranked

9 citations

Allan M. Glanzman, Sarah Woidill, Brielle Formanowski, Agrani Dixit, David Isaacs +17 more

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

European Journal of Paediatric Neurology(2024)10.1016/j.ejpn.2024.03.003

N/A

0DataRank · unranked

29 citations

Daphne H. Schoenmakers, Laura Adang, Stefanie Beck‐Woedl, Caroline Bergner, Geneviève Bernard +23 more

Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108453

N/A

0DataRank · unranked

25 citations

Anjana Sevagamoorthy, Omar Sherbini, Jamie L. Fraser, Joshua L. Bonkowsky, Francesco Gavazzi +18 more

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies

JCI Insight(2024)10.1172/jci.insight.178456

N/A

0DataRank · unranked

14 citations

Russell D’Aiello, Asako Takanohashi, Sarah Woidill, Francesco Gavazzi, Edward M. Behrens +6 more

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108346

N/A

0DataRank · unranked

12 citations

Sarah Woidill, Francesco Gavazzi, Nicholson Modesti, Anjana Sevagamoorthy, Adeline Vanderver +2 more

Nucleotide metabolism, leukodystrophies, and CNS pathology

Journal of Inherited Metabolic Disease(2024)10.1002/jimd.12721

N/A

0DataRank · unranked

14 citations

Carlos Dominguez Gonzalez, Kaley Arnold, Meghan Swantkowski, Lauren Charlton, Nicholson Modesti +5 more

Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108521

N/A

0DataRank · unranked

8 citations

Samuel Groeschel, Chloe Grzyb, Russell D’Aiello, Francesco Gavazzi, Omar Sherbini +43 more

Systemic complications of Aicardi Goutières syndrome using real-world data

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108578

N/A

0DataRank · unranked

8 citations

Amanda Jan, Nicholson Modesti, Sarah Woidill, Francesco Gavazzi, David Isaacs +14 more

Characterization of gallbladder disease in metachromatic leukodystrophy across the lifespan

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.109003

N/A

0DataRank · unranked

5 citations

Anjana Sevagamoorthy, Sarah Woidill, Paul J. Orchard, Francesco Gavazzi, Suzanne P. MacFarland +4 more

Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome

Journal of Child Neurology(2024)10.1177/08830738241241786

N/A

0DataRank · unranked

2 citations

Francesco Gavazzi, Isabella Peixoto de Barcelos, Nicholson Modesti, Sarah Woidill, Brielle Formanowski +9 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

0DataRank · unranked

9 citations

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

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome

Journal of Child Neurology(2025)10.1177/08830738251341530

N/A

0DataRank · unranked

4 citations

Ashley E. Martin, Anjana Sevagamoorthy, Ylenia Vaia, Ariel Vincent, Sarah Woidill +6 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

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

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

Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study

Annals of the Child Neurology Society(2025)10.1002/cns3.70025

N/A

0DataRank · unranked

0 citations

Sarah Woidill, Russell D’Aiello, Amina Khan, Jacob McCann, Mark Ramos +27 more