Clara van Karnebeek

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Víctor Faùndes, William G. Newman, Laura Bernardini et al. · The American Journal of Human Genetics · 2017 · 278 citations · Full text

Life Sciences, Genetics, Molecular Biology +14

A proposed nosology of inborn errors of metabolism

Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley et al. · Genetics in Medicine · 2018 · 270 citations · Full text

Life Sciences, Biochemistry, Genetics +12

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 · 234 citations · Full text

Medicine, Pharmacology, Biochemical Pharmacology +13

Natural history of cardiovascular manifestations in Marfan syndrome

Clara van Karnebeek · Archives of Disease in Childhood · 2001 · 191 citations · Full text

Medicine, Cardiology, Surgery +14

FLAGS, frequently mutated genes in public exomes

Casper Shyr, Maja Tarailo‐Graovac, Michael Gottlieb et al. · BMC Medical Genomics · 2014 · 176 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17