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

Gregory Costain

University of Toronto

ORCID: 0000-0003-0099-9945

Also affiliated with Great Ormond Street Hospital, Hospital for Sick Children, SickKids Foundation, University College London

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 5%percentile
0.373Author 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.

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation

medRxiv(2022)10.1101/2022.05.05.22274031
Top 65%
0.208DataRank
Top 65%3 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

Papers

Driven by 15 papers — median percentile 33. Top paper: “Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion”.

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Molecular Psychiatry(2020)10.1038/s41380-020-0654-3
N/A
0.738DataRank · unranked
136 citations

Worrawat Engchuan, Matthew S. Hestand, Tracy Heung, Aaron M. Holleman, H. Richard Johnston +95 more

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Science Advances(2020)10.1126/sciadv.abc9207
N/A
0.691DataRank · unranked
99 citations

Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson +95 more

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.002
N/A
0.568DataRank · unranked
43 citations

Gregory Costain, Laura E.R. Blok, Michael Silk, Thanh Nguyen, Xiaomin Dong +95 more

Genomic architecture of Autism Spectrum Disorder from comprehensive whole-genome sequence annotation

medRxiv(2022)10.1101/2022.05.05.22274031
Top 65%
0.208DataRank
Top 65%3 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

Genetics in Medicine(2025)10.1016/j.gim.2025.101555
Top 70%
0.165DataRank
Top 70%2 citations

Pavla Nedbalova, Miroslava Hančárová, Jan Prchal, Darina Prchalová, Markéta Vlčková +74 more

Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B

American Journal of Respiratory and Critical Care Medicine(2022)10.1164/rccm.202106-1456oc
N/A
0DataRank · unranked
30 citations

Zhen Liu, Vito Mennella, Giorgia Radicioni, Adrienn N. Goczi, Alexandra Albulescu +14 more

DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes

European Journal of Human Genetics(2022)10.1038/s41431-022-01083-0
N/A
0DataRank · unranked
28 citations

Eric Chater‐Diehl, Sanaa Choufani, Elizabeth Y Wei, Rebecca R. Kianmahd, Anna Yu +8 more

Genomic architecture of autism from comprehensive whole-genome sequence annotation

Cell(2022)10.1016/j.cell.2022.10.009
N/A
0DataRank · unranked
280 citations

Bhooma Thiruvahindrapuram, Ada J. S. Chan, Worrawat Engchuan, Edward J. Higginbotham, Jennifer Howe +95 more

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis

Journal of Clinical Investigation(2023)10.1172/jci165019
N/A
0DataRank · unranked
43 citations

Museer A. Lone, Winston Lee, Laura Capolupo, Sylvia Ho, Adekemi M. Adeyemi +80 more

Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies

The American Journal of Human Genetics(2023)10.1016/j.ajhg.2023.09.009
N/A
0DataRank · unranked
13 citations

Ashish R. Deshwar, Yan Huang, Scott Barish, Xi Zhang, Sanaa Choufani +30 more

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

Brain(2025)10.1093/brain/awaf212
N/A
0DataRank · unranked
3 citations

M. Kathryn Barton, Katherine A. Lynch, Ashish R. Deshwar, Philip D. Campbell, Josephine Millard +49 more

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Nature Communications(2025)10.1038/s41467-025-65556-8
N/A
0DataRank · unranked
3 citations

Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati, Tzung‐Chien Hsieh, Lise Bray +95 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

Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

JAMA Neurology(2022)10.1001/jamaneurol.2022.0067
N/A
0DataRank · unranked
39 citations

John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik +12 more

Genotype-Phenotype Correlation in RBM10-Associated Syndromes – How Variant Function Shapes a Broad Phenotypic Landscape

medRxiv(2025)10.1101/2025.08.05.25330579
N/A
0DataRank · unranked
0 citations

Christina Fagerberg, Thomas Koed Doktor, Mia M. Rosenlund, Santiago M. Lumbreras, Mark Burton +70 more