Andrea Cortese

National Hospital for Neurology and Neurosurgery

Also affiliated with Fondazione IRCCS Istituto Neurologico Carlo Besta, University College London

Biochemistry, 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 12 papers. Top paper: “Increased frequency of repeat expansion mutations across different populations”.

Increased frequency of repeat expansion mutations across different populations

medRxiv(2023)10.1101/2023.07.03.23292162

N/A

0.406DataRank · unranked

14 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +26 more

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain(2020)10.1093/brain/awaa420

N/A

0DataRank · unranked

56 citations

Rauan Kaiyrzhanov, Yaqun Zou, Sahar Da’as, Reza Maroofian, Sandra Donkervoort +91 more

RFC1-related ataxia is a mimic of early multiple system atrophy

Journal of Neurology Neurosurgery & Psychiatry(2021)10.1136/jnnp-2020-325092

N/A

0DataRank · unranked

43 citations

Wai Yan Yau, Viorica Chelban, Salvatore Rossi, Natalia Dominik, Emer O’Connor +5 more

Charcot-Marie-Tooth disease type 2CC due toNEFHvariants causes a progressive, non-length-dependent, motor-predominant phenotype

Journal of Neurology Neurosurgery & Psychiatry(2021)10.1136/jnnp-2021-327186

N/A

0DataRank · unranked

17 citations

Andrea Cortese, James M. Polke, Roy Poh, Jana Vandrovcová, Matilde Laurá +15 more

Investigating RFC1 expansions in sporadic amyotrophic lateral sclerosis

Journal of the Neurological Sciences(2021)10.1016/j.jns.2021.118061

N/A

0DataRank · unranked

14 citations

Ramita Dewan, Andrea Cortese, Susan M. Resnick, Luigi Ferrucci, Henry Houlden +2 more

Increased frequency of repeat expansion mutations across different populations

Nature Medicine(2024)10.1038/s41591-024-03190-5

N/A

0DataRank · unranked

74 citations

Bharati Jadhav, Matteo Zanovello, Delia Gagliardi, Christopher Clarkson, Stefano Facchini +25 more

A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A

Journal of the Peripheral Nervous System(2024)10.1111/jns.12621

N/A

0DataRank · unranked

1 citations

Matt C. Danzi, Ariel Ruiz, Jacquelyn Raposo, Yeisha Arcia de Jesus, Mary M. Reilly +16 more

Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

Brain(2025)10.1093/brain/awaf021

N/A

0DataRank · unranked

7 citations

Maike F. Dohrn, Riccardo Curró, Sara Negri, Petra Laššuthová, Chiara Pisciotta +76 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

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

Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion

Brain(2020)10.1093/brain/awz418

N/A

0DataRank · unranked

221 citations

Stefano Tozza, Wai Yan Yau, Salvatore Rossi, Sarah J. Beecroft, Zane Jaunmuktane +37 more

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy

Journal of Clinical Investigation(2025)10.1172/jci184474

N/A

0DataRank · unranked

0 citations

Stéphanie Efthymiou, Christopher J. Record, Xinyu Miao, Renee Q. Lin, J. Parmar +76 more