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

Philippe M. Campeau

Centre Hospitalier Universitaire Sainte-Justine

ORCID: 0000-0001-9713-7107
Medicine

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 5%percentile
0.572Author 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 →

Top data-sharing exemplar

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z
Top 34%
0.572DataRank
Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Papers

Driven by 22 papers — median percentile 66. Top paper: “PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework”.

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Nature Genetics(2023)10.1038/s41588-023-01469-w
N/A
0.655DataRank · unranked
78 citations

Max Hinne, Kim M. G. Truijen, Lia Goltstein, Jeroen van Reeuwijk, Nicole de Leeuw +28 more

OXR1 maintains the retromer to delay brain aging under dietary restriction

Nature Communications(2024)10.1038/s41467-023-44343-3
N/A
0.622DataRank · unranked
17 citations

Sudipta Bar, Eric B. Dammer, Enrique M. Carrera, Brian A. Hodge, Tyler Hilsabeck +19 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

European Journal of Human Genetics(2024)10.1038/s41431-024-01701-z
Top 34%
0.572DataRank
Top 34%16 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +69 more

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Molecular Psychiatry(2023)10.1038/s41380-022-01852-9
N/A
0.538DataRank · unranked
35 citations

Michael Pusch, Alessandra Picollo, Caitlin Forwood, Matthew H. Nguyen, Vanessa Suckow +94 more

Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.04.010
N/A
0.430DataRank · unranked
9 citations

Wenjun Jin, Christin Findeisen, Irene Valenzuela, Laura A. Devlin, Jill R. Murrell +35 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
0.406DataRank · unranked
14 citations

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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

Nature Genetics(2025)10.1038/s41588-025-02361-5
N/A
0.208DataRank · unranked
3 citations

Aisha Ahmad, Paranchai Boonsawat, Jasmine Shahanoor Hinzen, Mareike Lohse, Boris Bouazza‐Arostegui +95 more

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Movement Disorders(2022)10.1002/mds.29147
N/A
0DataRank · unranked
11 citations

Robert Spaull, Smrithi Salian, Katy Barwick, Esther Meyer, Juan Zhen +32 more

OXR1 maintains the retromer to delay brain aging under dietary restriction

Research Square(2022)10.21203/rs.3.rs-1455343/v1
N/A
0DataRank · unranked
0 citations

Kenneth A. Wilson, Sudipta Bar, Eric B. Dammer, Brian A. Hodge, Enrique M. Carrera +16 more

The minor and major spliceosome interact to regulate alternative splicing around minor introns

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.18.101246
N/A
0DataRank · unranked
2 citations

Alisa K. White, Madisen F. Lee, Almahdi Chakroun, Alice K. Abdel Aleem, Justine Rousseau +4 more

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature

Journal of Inherited Metabolic Disease(2020)10.1002/jimd.12278
N/A
0DataRank · unranked
28 citations

Thi Tuyet Mai Nguyen, Jessica L. Zambonin, Kristin D. Kernohan, Anik St‐Denis, Nissan Baratang +20 more

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations

Clinical Genetics(2020)10.1111/cge.13877
N/A
0DataRank · unranked
11 citations

Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana Chilton +7 more

Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function

Human Genetics and Genomics Advances(2024)10.1016/j.xhgg.2024.100349
N/A
0DataRank · unranked
8 citations

Serena Cecchetti, Gianfranco Bocchinfuso, Francesca Clementina Radio, Chiara Leoni, Roberta Onesimo +30 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

UNC Libraries(2024)10.17615/2254-fj45
N/A
0DataRank · unranked
0 citations

Rolph Pfundt, Birgit Elisabeth Kristiansen, Mary J. Green, Sally Ann Lynch, Amanda Openshaw +67 more

Early-onset systemic lupus erythematosus-ANCA-associated vasculitis overlap syndrome caused by DNASE1L3 deficiency

Lara D. Veeken(2025)10.1093/rheumatology/keaf459
N/A
0DataRank · unranked
1 citations

Sohei Makita, Kévin Côté, Geneviève Benoît, Philippe M. Campeau, Jean Jacques De Bruycker +9 more

Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia

Brain(2025)10.1093/brain/awaf273
N/A
0DataRank · unranked
1 citations

Ny Hoang, Jamie C Stark, Sunny Cui, Emanuela Pannia, Chung Ting Tsoi +36 more

Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases

medRxiv(2025)10.1101/2025.07.11.25331388
N/A
0DataRank · unranked
0 citations

Jean‐Christophe Grenier, Justin Pelletier, Gabrielle Boucher, Geneviève Gagnon, Philippe Goyette +13 more

An Elevated Birth Prevalence of Fraser Syndrome in Quebec Linked To A Founder Pathogenic Variant

medRxiv(2025)10.1101/2025.10.30.25336922
N/A
0DataRank · unranked
0 citations

Justin Pelletier, Dariel Ashton‐Beaucage, Mohadese Sayahian Dekhordi, Vincent Chapdelaine, Marie-Ange Delrue +6 more

Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy

Human Genetics(2021)10.1007/s00439-021-02283-2
N/A
0DataRank · unranked
36 citations

Daphné Lehalle, Caroline Nava, Erin Torti, Elsa Leitão, Richard Person +40 more

Pathogenic DDX3X Mutations Impair RNA Metabolism and Neurogenesis during Fetal Cortical Development

Neuron(2020)10.1016/j.neuron.2020.01.042
N/A
0DataRank · unranked
223 citations

Mariah L. Hoye, Ruiji Jiang, Bethany Johnson-Kerner, Lindsey Suit, Srivats Venkataramanan +49 more

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.017
N/A
0DataRank · unranked
32 citations

Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan +41 more

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

medRxiv(2021)10.1101/2021.09.06.21262776
N/A
0DataRank · unranked
8 citations

Felice D’Arco, Kimberly A. Aldinger, Constance Smith‐Hicks, Christiane Zweier, Gyri Aasland Gradek +64 more