Exome Sequencing and the Management of Neurometabolic Disorders
Maja Tarailo‐Graovac(Child and Family Research Institute), Casper Shyr(BC Children's Hospital), Colin J.D. Ross(BC Children's Hospital), Gabriella Horváth(Biochemical Society), Ramona Salvarinova(Pediatrics and Genetics), Xin C. Ye(BC Children's Hospital), Lin-Hua Zhang(Pediatrics and Genetics), Amit P. Bhavsar(Pediatrics and Genetics), Jessica J. Y. Lee(BC Children's Hospital), Britt I. Drögemöller(Pediatrics and Genetics), Mena Abdelsayed(Simon Fraser University), Majid Alfadhel(King Abdulaziz Medical City), Linlea Armstrong(Child and Family Research Institute), Matthias R. Baumgartner(University Children's Hospital Zurich), Patricie Burda(University Children's Hospital Zurich), Mary Connolly(Pediatrics and Genetics), Jessie M. Cameron(University of Toronto), Michelle Demos(Pediatrics and Genetics), Tammie Dewan(Pediatrics and Genetics), Janis M. Dionne(Pediatric Nephrology of Alabama), A. Mark Evans(University of Edinburgh), Jan M. Friedman(Child and Family Research Institute), Ian Garber(Child and Family Research Institute), M. E. Suzanne Lewis(Child and Family Research Institute), Jiqiang Ling(The University of Texas Health Science Center at Houston), Rupasri Mandal(University of Alberta), André Mattman(University of British Columbia), Margaret L. McKinnon(Child and Family Research Institute), Aspasia Michoulas(Pediatrics and Genetics), Daniel L. Metzger(Child and Family Research Institute), Oluseye A. Ogunbayo(University of Edinburgh), Bojana Rakić, Jacob Rozmus(CURE Childhood Cancer), Peter C. Ruben(Simon Fraser University), Bryan Sayson(Biochemical Society), Saikat Santra(Birmingham Children's Hospital), Kirk R. Schultz(CURE Childhood Cancer), Kathryn Selby(Pediatrics and Genetics), Paul Shekel(University of Edinburgh), Sandra Sirrs(University of British Columbia), Cristina Skrypnyk(Arabian Gulf University), Andrea Superti‐Furga(University of Lausanne), Stuart E. Turvey(Child and Family Research Institute), Margot I. Van Allen(Child and Family Research Institute), David S. Wishart(National Institute for Nanotechnology), Jiang Wu(BC Children's Hospital), John K. Wu(BC Children's Hospital), Dimitrios Zafeiriou(Aristotle University of Thessaloniki), Leo A. J. Kluijtmans(Radboud University Nijmegen), Ron A. Wevers(Radboud University Medical Center), Patrice Eydoux(Child and Family Research Institute), Anna Lehman(Child and Family Research Institute), Hilary Vallance(Child and Family Research Institute), Sylvia Stöckler‐Ipsiroglu(Biochemical Society), Graham Sinclair(Child and Family Research Institute), Wyeth W. Wasserman(Child and Family Research Institute), Clara D.M. van Karnebeek(Pediatrics and Genetics)
Cited by 280Open Access
Abstract
Whole-exome sequencing has transformed gene discovery and diagnosis in rare diseases. Translation into disease-modifying treatments is challenging, particularly for intellectual developmental disorder. However, the exception is inborn errors of metabolism, since many of these disorders are responsive to therapy that targets pathophysiological features at the molecular or cellular level.
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