RARE DISEASES

 

Publications

  1. Tarailo-Graovac M*, Drögemöller BI*, Wasserman WW, Ross CJD, van den Ouweland AMW, Darin N, Kollberg G, van Karnebeek CDM, Blomqvist M. Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease. Orphanet J Rare Dis. 2017;12(1):28.  *These authors contributed equally to this publication. 

  2. Lee JJY, van Karnebeek CDM, Drögemoller B, Shyr C, Tarailo-Graovac M, Eydoux P, Ross CJ, Wasserman WW, Björnson B, Wu JK. Further validation of the SIGMAR1 c.151+1G>T mutation as cause of distal hereditary motor neuropathy. Child Neurology Open 2016;3:1-5.

  3. Anastasio N, Tarailo-Graovac M, Al-Khalifah R, Legault L, Drögemöller B, Ross CJ, Wasserman WW, van Karnebeek C, Buhas D. Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes. JIMD Rep. 2017;31:57-62.

  4. Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang L-H, Bhavsar APB, 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. N Engl J Med. 2016;374(23):2246-55.

  5. Langlois S, Tarailo-Graovac M, Sayson B, Drögemöller B, Ross C, Swenerton A, van Karnebeek CDM. De novodominant mutations affecting the motor domain of KIF1A are a cause of PEHO syndrome. Eur J Hum Genet. 2016;24(6):949-53.

  6. Santra S, Cameron JM, Shyr C, Zhang L, Drögemöller B, Ross CJ, Wasserman WW, Wevers RA, Rodenburg RJ, Gupte G, Preece MA, van Karnebeek CD. Cytosolic phosphoenolpyruvate carboxykinase deficiency presenting with acute liver failure following gastroenteritis. Mol Genet Metab. 2016;118(1):21-7.