RARE DISEASES

 

Publications

  1. van Kuilenburg ABP*, Tarailo-Graovac M*, Richmond PA*, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Karbassi F, Jones MJ, Kobor MS, Koster J, Kumari D, Li M, McDonald C, Meijer J, NguyenC, Rajan-Babu I-S, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink J, Walia J, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty M, Santra S, Wanders RJA, Wen X-Y, Waterham HR, Usdin K, van Karnebeek CDM. Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS. N Engl J Med. 2019;380:1433-41.
    *These authors contributed equally to the work

  2. Johnstone DL, Al-Shekaili HH, Tarailo-Graovac M, Wolf NI, Ivy AS, Roussell Y, Kernohan KD, Kosuta C, Ban K, van Roermund CWT, Al-Thihli K, Abdelrahim RA, Haaxma CA, Olson H, Demarest S, Sigurdardottir LY, Arnold GL, Gerkes E, Bosma M, Ciapaite J, Jans J, Koolen DA, Kamsteeg EJ, Drögemöller B, Ross CJ, Cho MT, Wasserman W, Bui T, Violante S,  Houten SM, Wevers R, Lines MA, Ekker M, Dyment DA, Boycott KM, Lepage N, Wanders RJA, Verhoeven-Duif N, Friedman JM, Pena IA*, van Karnebeek CDM*. PLPHP deficiency: Clinical, genetic, biochemical, and mechanistic insights. Brain. 2019;142:542-59

  3. Matthews AM, Blydt-Hansen I Jabri BA, Andersen J, Tarailo-Graovac M, Price M, Selby K, Demos M, Connolly M, Drogemoller B, Shyr C, Mfeniwumbo J, Elliot A, Lee J, Ghani A, Stockler S, Salvarinova R, Vallance H, Sinclair G, Ross CJ, Wasserman WW, McKinnon ML, Horvath G, Goez H, van Karnebeek CD. Atypical Cerebral Palsy: Genomics analysis enables precision medicine. Genet Med. 2019;21:1621-1628.

  4. Pérez-Torras S, Mata-Ventosa A, Drögemöller B, Tarailo-Graovac M, Meijer J, Meinsma R, van Cruchten AG, Kulik W, Viel-Oliva A, Bidon-Chanal A, Ross CJ, Wassermann WW, van Karnebeek CD, Pastor-Anglada M, van Kuilenburg ABP. Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure. Biochim Biophys Acta Mol Basis Dis. 2019; pii: S0925-4439(19)30013-4.

  5. Wen X-Y, Rakic B, Brand-Arzamendi K, Tarailo-Graovac M, Willems A, Huijben K, Pan X, El-Rass S, Selby K, Philip A, Yun J, Lehman AM, Zijlstra F, Bakar AA, Drögemöller B, Ross CJ, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi, Hoskings M, Wevers RA, Pshezhetsky AV,  van Karnebeek CDM, Lefeber DJ. Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function. JCI Insight. 2018;3:pii: 122373.

  6. Schlingmann KP, Bandulik S, Mammen C, Jensen RH, Tarailo-Graovac M, Baumann M, König J, Lee JJY, Drögemöller B, Imminger K, Beck B, Altmüller J, Thiele H, Waldegger S, van`t Hoff W, Kleta R, Warth R, Vilsen B, van Karnebeek CDM, Bockenhauer D, Konrad M. Germline de-novo mutations in ATP1A1 cause renal hypomagnesemia, refractory seizures and intellectual disability. Am J Hum Genet. 2018;103:808-16.

  7. Horvath GA, Zhao Y, Tarailo-Graovac M, Boelman C, Gill H, Shyr C, Lee J, Blydt-Hansen I, Drögemöller BI, Moreland J, Ross CJ, Wasserman WW, Masotti A, Slesinger PA, van Karnebeek CDM. Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype. Neuroscience. 2018;384:152-164

  8. van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drögemöller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12. Hum Mutat. 2018 Jul;39(7):947-953.

  9. Matthews AM, Tarailo-Graovac M, Price EM, Blydt-Hansen I, Ghani A, Drögemöller BI, Robinson WP, Ross CJ, Wasserman WW, Siden H, van Karnebeek CD. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder. Eur J Med Genet. 2017;60(10):548-52.

  10. 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.     

  11. 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.

  12. 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.

  13. 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.

  14. 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.

  15. 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.