Rita Horváth

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 3%percentile

1.4Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03059-3

Top 17%

1.2DataRank

Top 17%22 citations

Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Dimitrios Athanasiou +37 more

Papers

Driven by 25 papers — median percentile 61. Top paper: “The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases”.

The RD‐Connect Genome‐Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases

Human Mutation(2022)10.1002/humu.24353

N/A

1.3DataRank · unranked

63 citations

Davide Piscia, Leslie Matalonga, Alberto Corvò, Carles García, Marcos Fernández-Callejo +46 more

EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders

Orphanet Journal of Rare Diseases(2024)10.1186/s13023-024-03059-3

Top 17%

1.2DataRank

Top 17%22 citations

Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Dimitrios Athanasiou +37 more

A randomized, double‐blind trial of triheptanoin for drug‐resistant epilepsy in glucose transporter 1 deficiency syndrome

Epilepsia(2022)10.1111/epi.17263

N/A

0.944DataRank · unranked

27 citations

Stéphane Auvin, Abigail Collins, Rita Horváth, Ingrid E Scheffer, Michal Tzadok +11 more

Mitochondrial damage is associated with an early immune response in inclusion body myositis

Brain(2025)10.1093/brain/awaf118

N/A

0.538DataRank · unranked

17 citations

Emily S. Cross, Daniel Lagos, Sara Walli, Benedikt Schoser, Andreas Hentschel +17 more

The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease

medRxiv(2023)10.1101/2023.07.13.23292612

Top 60%

0.246DataRank

Top 60%3 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families

Journal of Neuromuscular Diseases(2020)10.3233/jnd-200510

N/A

0DataRank · unranked

19 citations

Serdal Güngör, Lena Zeltner, Sarah Wiethoff, Lüdger Schöls, Ece Sönmezler +16 more

The genetic landscape of axonal neuropathies in the middle-aged and elderly

Neurology(2020)10.1212/wnl.0000000000011132

N/A

0DataRank · unranked

31 citations

Petra Laššuthová, Dagmara Kabzińska, Lisa Abreu, Jonathan Baets, Christian Beetz +52 more

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics Part A(2020)10.1002/ajmg.a.61765

N/A

0DataRank · unranked

29 citations

Payam Mohassel, Lucia Laugwitz, Maha S. Zaki, Erik‐Jan Kamsteeg, Reza Maroofian +24 more

The integrated stress response contributes to tRNA synthetase–associated peripheral neuropathy

Science(2021)10.1126/science.abb3414

N/A

0DataRank · unranked

135 citations

Timothy J. Hines, Preeti Bais, Abigail L. D. Tadenev, R. Schneider, Douglas M. Jewett +18 more

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.003

N/A

0DataRank · unranked

42 citations

Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal Shetty +95 more

Molecular pathophysiology of human MICU1 deficiency

Neuropathology and Applied Neurobiology(2021)10.1111/nan.12694

N/A

0DataRank · unranked

33 citations

Miriam Elbracht, Artur Czech, Martin Häusler, Vietxuan Phan, Ana Töpf +13 more

CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS

Proceedings of the National Academy of Sciences(2021)10.1073/pnas.2012898118

N/A

0DataRank · unranked

31 citations

Na Wei, Bernhard Kuhle, Scott J. Novick, Żaneta Matuszek, Huihao Zhou +10 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

NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice

Brain(2022)10.1093/brain/awac055

N/A

0DataRank · unranked

37 citations

Leen Vendredy, Emily L. Spaulding, Marina Stavrou, Denisa Hathazi, Anika Grüneboom +12 more

OPA1 disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion

Proceedings of the National Academy of Sciences(2023)10.1073/pnas.2207471120

N/A

0DataRank · unranked

34 citations

Daniel Lagos, Josefa Macuada, Duxan Arancibia, Florence Burté, Marcela Sjöberg +6 more

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.005

N/A

0DataRank · unranked

17 citations

Davut Pehli̇van, Damián Heine‐Suñer, Karin Weiss, Thibault Coste, Markus Zweier +42 more

The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease

Med(2023)10.1016/j.medj.2023.10.003

N/A

0DataRank · unranked

10 citations

Michael Gargano, Sabrina Toro, Nicole A. Vasilevsky, Margaret P Adam, Hannah Blau +21 more

Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

Nature Communications(2024)10.1038/s41467-024-46354-0

N/A

0DataRank · unranked

43 citations

Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg +55 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets

Genetics in Medicine(2024)10.1016/j.gim.2024.101336

N/A

0DataRank · unranked

7 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 more

Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish

Human Molecular Genetics(2024)10.1093/hmg/ddae171

N/A

0DataRank · unranked

1 citations

Jarred Lau, Emily O’Connor, Alicia DiBattista, Brittany Y Wong, Sally Spendiff +5 more

Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing datasets

medRxiv(2024)10.1101/2024.02.11.24302646

N/A

0DataRank · unranked

0 citations

Rakshya Sharma, Villem Pata, Tiia Reimand, Vijay S Ganesh, Christina Austin‐Tse +34 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

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

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A‐Ataxia: A Multicenter Study of 59 Patients

Annals of Neurology(2020)10.1002/ana.25751

N/A

0DataRank · unranked

77 citations

Tommaso Schirinzi, Lucia Laugwitz, Nathan H. Murray, C.A. Bingman, Selina Reich +37 more

Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome

Frontiers in Molecular Neuroscience(2020)10.3389/fnmol.2020.594220

N/A

0DataRank · unranked

15 citations

Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O’Connor +7 more

Rita Horváth

Indexed papers

Top data-sharing exemplar

Papers