Clara van Karnebeek - Concepedia

Author

Clara van Karnebeek

Also Known As

C D M van Karnebeek, C Van Karnebeek, C van Karnebeek, C. D. M. van Karnebeek, C. Karnebeek, C. Van Karnebeek, C. van Karnebeek, C.D.M. van Karnebeek, CLARA D M VAN KARNEBEEK, Clara D M Van Karnebeek

228

Publications

7.8K

Citations

H-Index

138

Concepts

All Affiliations

University of British Columbia BC Children's Hospital Child and Family Research Institute Emma Kinderziekenhuis Radboud University Nijmegen

About

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

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	23	33	2K
2	Health Sciences	5	5	262
3	Education	3	3	173
4	Natural Sciences	2	2	40
5	Engineering	1	1	11

Clara van Karnebeek

Publications

4.1K

Citations

H-Index

Page 1

	Year	Citations
A proposed nosology of inborn errors of metabolism Carlos R. Ferreira, Clara van Karnebeek, Jerry Vockley, Genetics in Medicine Inborn ErrorsMetabolic DisorderGeneticsPhysiologyInherited Metabolic Disease	2018	254
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, Journal of Medical Genetics	2015	228
Natural history of cardiovascular manifestations in Marfan syndrome Clara van Karnebeek Archives of Disease in Childhood	2001	190
FLAGS, frequently mutated genes in public exomes Casper Shyr, Maja Tarailo‐Graovac, Michael Gottlieb, BMC Medical Genomics	2014	168
NANS-mediated synthesis of sialic acid is required for brain and skeletal development Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Nature Genetics Developmental BiologyBiochemistryBrain DevelopmentSialic AcidNans-mediated Synthesis	2016	163
Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo, Molecular Genetics and Metabolism	2013	138
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, The American Journal of Human Genetics Epileptic EncephalopathyNeurophysiologyGenetic DisorderGeneticsGain-of-function Mutations	2017	124
Phenotypic abnormalities: Terminology and classification Johannes H. M. Merks, Clara van Karnebeek, Hubert Caron, American Journal of Medical Genetics Part A Phenotypic VariationCancer PathologyGeneticsGenetic EpidemiologyDiagnosis	2003	120
Loss-of-function mutations in<i>SCN4A</i>cause severe foetal hypokinesia or ‘classical’ congenital myopathy Irina Zaharieva, Michael G. Thor, Emily C. Oates, Brain Congenital MyopathyMuscle FunctionGeneticsPathologyClinical Genetics	2015	120
Etiology of Mental Retardation in Children Referred to a Tertiary Care Center: A Prospective Study Clara van Karnebeek, Frederike Y. Scheper, N. G. G. M. Abeling, American Journal on Mental Retardation DisabilityDiagnosisEducationMental HealthCognitive Rehabilitation	2005	109

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