Clarissa Rocca

Also affiliated with National Hospital for Neurology and Neurosurgery, University College London

NeuroscienceBiochemistry, 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 11 papers. Top paper: “Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia”.

Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia

New England Journal of Medicine(2022)10.1056/nejmoa2207406

N/A

0.831DataRank · unranked

253 citations

Matt C. Danzi, Carlo Wilke, M. Renaud, Sarah Fazal, Marie‐Josée Dicaire +46 more

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

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability

Nature Genetics(2024)10.1038/s41588-024-01917-1

N/A

0.373DataRank · unranked

11 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +19 more

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 as a significant cause of intellectual disability

medRxiv(2023)10.1101/2023.05.03.23289461

N/A

0DataRank · unranked

7 citations

Paras Garg, Joke J.F.A. van Vugt, Kristina Ibáñez, Delia Gagliardi, William Lee +16 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

Adaptive Long‐Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4

Movement Disorders(2024)10.1002/mds.29704

N/A

0DataRank · unranked

49 citations

Emil K. Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca +19 more

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101251

N/A

0DataRank · unranked

4 citations

Tania Quirin, Clarissa Rocca, Stéphanie Efthymiou, Antonella Riva, Dana Marafi +95 more

Human mutations in SLITRK3 implicated in GABAergic synapse development in mice

Frontiers in Molecular Neuroscience(2024)10.3389/fnmol.2024.1222935

N/A

0DataRank · unranked

5 citations

Wenyan Han, Muhammad Ilyas, Jun Li, Yichao Yu, Marcello Scala +22 more

A Population‐Wide Exploration of the THAP11 CAG Repeat Size and Structure in the 100,000 Genomes Project and UK Biobank

Movement Disorders(2024)10.1002/mds.30073

N/A

0DataRank · unranked

3 citations

Zhongbo Chen, Clarissa Rocca, Bharati Jadhav, Kristina Ibáñez, Mina Ryten +4 more

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Brain(2022)10.1093/brain/awac391

N/A

0DataRank · unranked

24 citations

Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang +29 more

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

Annals of Neurology(2022)10.1002/ana.26381

N/A

0DataRank · unranked

9 citations

Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih +60 more