Concepedia

Clara van Karnebeek

CV

85

Publications

4.1K

Citations

33

H-Index

1999

Active since

Affiliations

University of British Columbia(Current)

BC Children's Hospital

Child and Family Research Institute

Emma Kinderziekenhuis

Radboud University Nijmegen

Clara van Karnebeek is an author at University of British Columbia specializing in medicine, genetics, and neurology.

ORCID

Top concepts

Publications per year

1999–2024

85

Publications

85

A proposed nosology of inborn errors of metabolism

Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley et al. · Genetics in Medicine · 2018 · 254 citations · Full text

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The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

Kym M. Boycott, Taila Hartley, Shelin Adam et al. · Journal of Medical Genetics · 2015 · 228 citations · Full text

Natural history of cardiovascular manifestations in Marfan syndrome

Clara van Karnebeek · Archives of Disease in Childhood · 2001 · 190 citations · Full text

FLAGS, frequently mutated genes in public exomes

Casper Shyr, Maja Tarailo‐Graovac, Michael Gottlieb et al. · BMC Medical Genomics · 2014 · 168 citations · Full text

NANS-mediated synthesis of sialic acid is required for brain and skeletal development

Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen et al. · Nature Genetics · 2016 · 163 citations · Full text

, , +7

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