Kym M. Boycott

Also affiliated with Children's Hospital of Eastern Ontario

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 4%percentile

0.703Author DataRank

Indexed papers

3in 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 3 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.

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking

(2022)10.22541/au.164746810.06225040/v1

Top 28%

0.703DataRank

Top 28%14 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

Papers

Driven by 20 papers — median percentile 72. 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

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

Nature Cell Biology(2015)10.1038/ncb3201

N/A

0.831DataRank · unranked

253 citations

Gabrielle Wheway, Miriam Schmidts, Dorus A. Mans, Katarzyna Szymanska, Thanh-Minh T. Nguyen +71 more

Seven years since the launch of the Matchmaker Exchange: the evolution of genomic matchmaking

(2022)10.22541/au.164746810.06225040/v1

Top 28%

0.703DataRank

Top 28%14 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

GAA-FGF14 disease: defining its frequency, molecular basis, and 4-aminopyridine response in a large downbeat nystagmus cohort

EBioMedicine(2024)10.1016/j.ebiom.2024.105076

N/A

0.633DataRank · unranked

67 citations

Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton +12 more

The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases

Genome Research(2025)10.1101/gr.279970.124

N/A

0.538DataRank · unranked

35 citations

Kym M. Boycott, Giulia Gobbo

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0.533DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

ModelMatcher: A scientist‐centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

Human Mutation(2022)10.1002/humu.24364

N/A

0.425DataRank · unranked

16 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.11.540430

N/A

0.345DataRank · unranked

9 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Marie‐Josée Dicaire, Stephan Züchner +18 more

A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features

Scientific Reports(2020)10.1038/s41598-020-66978-8

N/A

0DataRank · unranked

19 citations

Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff +11 more

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Journal of Clinical Investigation(2023)10.1172/jci171235

N/A

0DataRank · unranked

44 citations

Qin Wang, Allan Bayat, Mark R. Battig, Yijing Zhou, Daniëlle G.M. Bosch +95 more

Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response

medRxiv(2023)10.1101/2023.07.30.23293380

N/A

0DataRank · unranked

10 citations

Felix Heindl, Carlo Wilke, Matt C. Danzi, Andreas Traschütz, Catherine Ashton +12 more

NUBP2 deficiency disrupts the centrosome-check point in the brain and causes primary microcephaly

medRxiv(2025)10.1101/2025.01.16.25320041

N/A

0DataRank · unranked

0 citations

Hanan E. Shamseldin, Nicole Costantino, JES-Rite Michaels, Sarah L. Sawyer, Matthew Osmond +7 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

The Deep Genome Project

Genome biology(2020)10.1186/s13059-020-1931-9

N/A

0DataRank · unranked

44 citations

David J. Adams, Gareth Baynam, Arthur L. Beaudet, Fátima Bosch, Kym M. Boycott +39 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

Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53

Human Molecular Genetics(2021)10.1093/hmg/ddab051

N/A

0DataRank · unranked

48 citations

Anissa Djedid, Eric Bareke, Fjodor Merkuri, Rachel Aber, Annie Tam +7 more

Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants

European Journal of Human Genetics(2021)10.1038/s41431-021-00821-0

N/A

0DataRank · unranked

15 citations

Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot‐Bastaraud, Cecile Cieuta Walti +51 more

ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.09.30.462504

N/A

0DataRank · unranked

3 citations

Lucian Li, Sanja Rogić, Guillaume Poirier‐Morency, Seon-Young Kim, Undiagnosed Diseases Network +8 more

Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

Human Mutation(2022)10.1002/humu.24373

N/A

0DataRank · unranked

51 citations

Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm, Kym M. Boycott

The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.011

N/A

0DataRank · unranked

27 citations

Gabrielle Lemire, Lauren C. Briere, Fang Liu, Marja W. Wessels, Xueqi Wang +13 more

Kym M. Boycott

Indexed papers

Top data-sharing exemplar

Papers