Isabella Moroni

Also affiliated with Fondazione IRCCS Istituto Neurologico Carlo Besta

Biochemistry, Genetics and Molecular BiologyNeuroscience

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 9 papers. Top paper: “Biallelic USP14 variants cause a syndromic neurodevelopmental disorder”.

Biallelic USP14 variants cause a syndromic neurodevelopmental disorder

Genetics in Medicine(2024)10.1016/j.gim.2024.101120

N/A

0.170DataRank · unranked

2 citations

Xénia Latypova, Ka Ying Sharon Hung, Miguel A. Prado, Byung‐Hoon Lee, Sophie Möller +19 more

A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

Neurology(2020)10.1212/wnl.0000000000009035

N/A

0DataRank · unranked

53 citations

Stefan Sillau, Gyula Acsádi, Chelsea Bacon, Kimberly Dooley, Joshua Burns +32 more

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1387

N/A

0DataRank · unranked

4 citations

Alan Pittman, Swati Mummidivarpu, Ehsan Ghayoor Karimiani, Samantha Martinez, Isabella Moroni +7 more

Parental diagnostic delay and developmental outcomes in congenital and childhood‐onset myotonic dystrophy type 1

Developmental Medicine & Child Neurology(2024)10.1111/dmcn.16079

N/A

0DataRank · unranked

8 citations

Emilio Albamonte, Marika Pane, Federica Ricci, Adele D’Amico, Guja Astrea +8 more

TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations

Brain(2024)10.1093/brain/awae201

N/A

0DataRank · unranked

6 citations

Jack K. Donohue, Maya Hoke, Simone Thomas, Margo A. Peyton, Linh K. Vo +30 more

Charcot-Marie-Tooth disease type 1E: clinical natural history and molecular impact of PMP22 variants

Brain(2025)10.1093/brain/awaf219

N/A

0DataRank · unranked

3 citations

Christopher P. Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A. Peterson, Davide Pareyson +47 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

Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study

Brain(2020)10.1093/brain/awaa323

N/A

0DataRank · unranked

92 citations

Shawna Feely, James M. Polke, Mariola Skorupinska, Laura Pérez, Rosemary Shy +55 more

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

medRxiv(2025)10.1101/2025.10.01.25336578

N/A

0DataRank · unranked

0 citations

Stefano Facchini, Arianna Manini, Ricardo Parolin Schnekenberg, Chiara Pisciotta, Stefania Magri +37 more