Key publications
  • Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJY, Drögemöller BI, Abdelsayed M, Alfadhel M, Armstrong L, Baumgartner MR, Burda P, Connolly MB, Cameron J, Demos M, Dewan T, Dionne J, Evans AM, Friedman JM, Garber I, Lewis S, Ling J, Mandal R, Mattman A, McKinnon M, Michoulas A, Metzger D, Ogunbayo OA, Rakic B, Rozmus J, Ruben P, Sayson B, Santra S, Schultz KR, Selby K, Shekel P, Sirrs S, Skrypnyk C, Superti-Furga A, Turvey SE, van Allen MI, Wishart D, Wu J, Wu J, Zafeiriou D, Kluijtmans L, Wevers RA, Eydoux P, Lehman AM, Vallance H, Stockler-Ipsiroglu S, Sinclair G, Wasserman WW, van Karnebeek CD, Exome Sequencing and the Management of Neurometabolic Disorders. NEW ENGL J MED 2016;374 (23):2246-2255 [PubMed]
  • van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A, NANS-mediated synthesis of sialic acid is required for brain and skeletal development. NAT GENET 2016;48 (7):777-+ [PubMed]
  • van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S, Mitochondrial Carbonic Anhydrase VA Deficiency Resulting from CA5A Alterations Presents with Hyperammonemia in Early Childhood. AM J HUM GENET 2014;94 (3):453-461 [PubMed]
  • van Karnebeek CDM, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR 2nd, Das AM, Gospe SM Jr, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, van Hove J, Collet JP, Plecko BR, Stockler S, Lysine restricted diet for pyridoxine-dependent epilepsy: First evidence and future trials. MOL GENET METAB 2012;107 (3):335-344 [PubMed]
  • van Karnebeek CDM, Shevell M, Zschocke J, Moeschler JB, Stockler S, The metabolic evaluation of the child with an intellectual developmental disorder: Diagnostic algorithm for identification of treatable causes and new digital resource. MOL GENET METAB 2014;111 (4):428-438 [PubMed]
All Publications
Research programmes

TIDE: Treatable Intellectual Disability Endeavour

Faculty
Dr. C.D. van Karnebeek MD PhD (University of British Columbia)

Postdocs
Dr. A.B. Bhavsar (University of British Columbia)
Dr. A.M. Matthews (University of British Columbia)
Dr. M.T.G. Tarailo-Graovac (University of British Columbia)
Dr. L.Z. Zhang (University of British Columbia)

PhD Students
L. van de Riet
L.A. Tseng
H.A.S. Al-Shekaili MD (University of British Columbia (Experimental Medicine program))
S.J. Jaggumantri BSc (University of British Columbia (Experimental Medicine program))
J.L. Lee BSc (University of British Columbia)

Current research funding
  • AMC
  • NIEUWE DEB IND
  • Stichting Metakids
  • Stichting tot Steun EKZ-AMC