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Page 1
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: bhavsar ap. 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.
Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.
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. van Karnebeek CD, et al. Among authors: bhavsar ap. Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13. Am J Hum Genet. 2014. PMID: 24530203 Free PMC article.
Genetic markers of cisplatin-induced hearing loss in children.
Carleton BC, Ross CJ, Pussegoda K, Bhavsar AP, Visscher H, Lee JW, Brooks B, Rassekh SR, Dubé MP, Hayden MR. Carleton BC, et al. Among authors: bhavsar ap. Clin Pharmacol Ther. 2014 Sep;96(3):296-8. doi: 10.1038/clpt.2014.92. Clin Pharmacol Ther. 2014. PMID: 25141953
Clinical Practice Recommendations for the Management and Prevention of Cisplatin-Induced Hearing Loss Using Pharmacogenetic Markers.
Lee JW, Pussegoda K, Rassekh SR, Monzon JG, Liu G, Hwang S, Bhavsar AP, Pritchard S, Ross CJ, Amstutz U, Carleton BC; CPNDS Clinical Recommendations Group. Lee JW, et al. Among authors: bhavsar ap. Ther Drug Monit. 2016 Aug;38(4):423-31. doi: 10.1097/FTD.0000000000000298. Ther Drug Monit. 2016. PMID: 26960170 Free article. Review.
Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer.
Drögemöller BI, Monzon JG, Bhavsar AP, Borrie AE, Brooks B, Wright GEB, Liu G, Renouf DJ, Kollmannsberger CK, Bedard PL, Aminkeng F, Amstutz U, Hildebrand CA, Gunaretnam EP, Critchley C, Chen Z, Brunham LR, Hayden MR, Ross CJD, Gelmon KA, Carleton BC. Drögemöller BI, et al. Among authors: bhavsar ap. JAMA Oncol. 2017 Nov 1;3(11):1558-1562. doi: 10.1001/jamaoncol.2017.0502. JAMA Oncol. 2017. PMID: 28448657 Free PMC article.
43 results