🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Raissa Relator

ORCID: 0000-0002-8153-2222
Biochemistry, 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 9 papers. Top paper: “SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability”.

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.03.016
N/A
0DataRank · unranked
25 citations

Aurore Garde, Thierry Gautier, Kathleen Rooney, Yannis Duffourd, Pontus LeBlanc +59 more

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

European Journal of Human Genetics(2023)10.1038/s41431-023-01313-z
N/A
0DataRank · unranked
7 citations

Aidin Foroutan, Pratibha Bhai, Michael A. Levy, Raissa Relator, Jennifer Kerkhof +8 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Research Square(2023)10.21203/rs.3.rs-3317938/v1
N/A
0DataRank · unranked
4 citations

Ghayda Mirzaa, Keqin Yan, Raissa Relator, Sara Timpano, Binnaz Yalcin +57 more

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature

medRxiv(2023)10.1101/2023.10.11.23296741
N/A
0DataRank · unranked
1 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +48 more

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement

Nature Communications(2024)10.1038/s41467-024-50159-6
N/A
0DataRank · unranked
24 citations

Cassandra Rastin, Soham Sengupta, Helen E. Pennington, Sophie Russ-Hall, Amy Schneider +50 more

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.001
N/A
0DataRank · unranked
13 citations

Maria Carla Borroto, Sadegheh Haghshenas, A Namasivayam, Jack Reilly, Michael A. Levy +61 more

Epigenomic and phenotypic characterization of DEGCAGS syndrome

European Journal of Human Genetics(2024)10.1038/s41431-024-01702-y
N/A
0DataRank · unranked
6 citations

Denisa Weis, Ingvild Aukrust, Tzung‐Chien Hsieh, Marie Horackova, Julie Paulsen +37 more

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

Nature Communications(2025)10.1038/s41467-025-64838-5
N/A
0DataRank · unranked
4 citations

Keqin Yan, Raissa Relator, Mathieu Lévesque, P.S. Jayasinghe, Sara Timpano +61 more

Comparative transcriptomics of salivary basal cell adenoma and adenocarcinoma sustain linear neoplastic evolution and intertumor heterogeneity: classification and biological implications

The Journal of Pathology(2025)10.1002/path.6424
N/A
0DataRank · unranked
0 citations

Haneen Al‐Maghrabi, Tatiana V. Karpinets, Raissa Relator, Lauren Hilder, Irene Y. Chen +6 more