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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.
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. Matthews AM, et al. Among authors: drogemoller bi. Eur J Med Genet. 2017 Oct;60(10):548-552. doi: 10.1016/j.ejmg.2017.07.015. Epub 2017 Aug 1. Eur J Med Genet. 2017. PMID: 28778789
Exome Sequencing and the Management of Neurometabolic Disorders.
Tarailo-Graovac M, Shyr C, Ross CJ, Horvath GA, Salvarinova R, Ye XC, Zhang LH, Bhavsar AP, Lee JJ, 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. Tarailo-Graovac M, et al. Among authors: drogemoller bi. N Engl J Med. 2016 Jun 9;374(23):2246-55. doi: 10.1056/NEJMoa1515792. Epub 2016 May 25. N Engl J Med. 2016. PMID: 27276562 Free PMC article.
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.
van Kuilenburg ABP, Tarailo-Graovac M, Meijer J, Drogemoller B, Vockley J, Maurer D, Dobritzsch D, Ross CJ, Wasserman W, Meinsma R, Zoetekouw L, van Karnebeek CDM. van Kuilenburg ABP, et al. Hum Mutat. 2018 Jul;39(7):947-953. doi: 10.1002/humu.23538. Epub 2018 May 10. Hum Mutat. 2018. PMID: 29691939
Gain-of-function KCNJ6 Mutation in a Severe Hyperkinetic Movement Disorder Phenotype.
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. Horvath GA, et al. Among authors: drogemoller bi. Neuroscience. 2018 Aug 1;384:152-164. doi: 10.1016/j.neuroscience.2018.05.031. Epub 2018 May 29. Neuroscience. 2018. PMID: 29852244 Free PMC article.
Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes.
Wright GEB, Amstutz U, Drögemöller BI, Shih J, Rassekh SR, Hayden MR, Carleton BC, Ross CJD; Canadian Pharmacogenomics Network for Drug Safety Consortium. Wright GEB, et al. Among authors: drogemoller bi. Clin Pharmacol Ther. 2019 Feb;105(2):402-410. doi: 10.1002/cpt.1179. Epub 2018 Aug 17. Clin Pharmacol Ther. 2019. PMID: 29999516 Free PMC article.
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