David A. Dyment

Also affiliated with Children's Hospital of Eastern Ontario

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 7 papers. Top paper: “A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features”.

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

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

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.08.014

N/A

0DataRank · unranked

36 citations

Vanda McNiven, Cheryl Cytrynbaum, Maryam Jangjoo, Margaret P Adam, Hans T. Björnsson +57 more

First reports of primary ciliary dyskinesia caused by a shared DNAH11 allele in Canadian Inuit

Pediatric Pulmonology(2023)10.1002/ppul.26414

N/A

0DataRank · unranked

19 citations

Michael T. Geraghty, Robert A. Hegele, David A. Dyment, David St Pierre, Julie Richer +8 more

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.01.013

N/A

0DataRank · unranked

25 citations

Eva Jacobs, Lies Vantomme, Pontus LeBlanc, Elke Bogaert, Annelies Dheedene +95 more

CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Genetics in Medicine(2024)10.1016/j.gim.2024.101104

N/A

0DataRank · unranked

13 citations

Maja Tarailo‐Graovac, René Leen, Rutger Meinsma, Solenne Correard, Judith Jansen-Meijer +38 more

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 more