21Publications
J Neuromuscul Dis 2021 ;8(1):63-77
University of Utah, Salt Lake City, UT, USA.
J Gastroenterol Hepatol 2020 Apr 24;35(4):530-543. Epub 2019 Oct 24.
Audentes Therapeutics, San Francisco, CA, USA.
Arch Dis Child 2020 04 4;105(4):332-338. Epub 2019 Sep 4.
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA
Pharmacoecon Open 2019 Dec;3(4):479-493
Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94108, USA.
BMC Neurol 2017 Nov 22;17(1):202. Epub 2017 Nov 22.
Audentes Therapeutics, 600 California Street, Floor 17, San Francisco, CA, 94104, USA.
Muscle Nerve 2018 04 22;57(4):550-560. Epub 2017 Dec 22.
Audentes Therapeutics, San Francisco, California, USA.
Dev Neuropsychol 2016 May-Jun;41(4):245-260. Epub 2016 Nov 2.
c BioMarin Pharmaceutical Inc ., Novato , California.
J Neuropathol Exp Neurol 2016 Feb;75(2):102-10
Value Health 2015 Jun 4;18(4):404-12. Epub 2015 Apr 4.
BioMarin Pharmaceutical, Inc., Novato, CA, USA.
Genet Med 2015 May 18;17(5):365-73. Epub 2014 Sep 18.
BioMarin Pharmaceutical, Inc., Novato, California, USA.
Mol Genet Metab 2014 Jun 6;112(2):87-122. Epub 2014 Mar 6.
The Young Face, Facial Plastic and Reconstructive Surgery, Cumming, GA 30041, USA. Electronic address:
Mol Genet Metab 2012 Jul 13;106(3):269-76. Epub 2012 Apr 13.
Tulane Hayward Genetics Center, New Orleans, LA, USA.
Mol Genet Metab 2011 Dec 16;104(4):574-82. Epub 2011 Aug 16.
Salford Royal NHS Foundation Trust, Salford, UK.
Mol Genet Metab 2011 May 11;103(1):1-11. Epub 2011 Feb 11.
Department of Pediatrics, University of Florida, College of Medicine, PO Box 100296, Gainesville, FL 32610, USA.
Paediatr Drugs 2011 Feb;13(1):33-47
Willink Unit, Genetic Medicine, Manchester Academic Health Science Centre, Central Manchester University Hospitals NHS Foundation Trust, St Marys Hospital, Manchester, UK.
Hum Mutat 2009 Apr;30(4):496-510
Division of Personalised Nutrition and Medicine, FDA/National Center for Toxicological Research, Jefferson, Arkansas 72079, USA.
Clin Child Psychol Psychiatry 2008 Apr;13(2):287-304
Frimley Children's Centre, UK.
Paediatr Drugs 2008 ;10(1):39-47
Department of Paediatrics, Cromwell Hospital, London, UK.
Child Adolesc Psychiatry Ment Health 2007 Sep 28;1(1):11. Epub 2007 Sep 28.
Department of Neuroscience, Eli Lilly and Company Ltd,, Basingstoke, Hampshire, UK.
Curr Med Res Opin 2007 Feb;23(2):379-94
Dept Neurosciences, Eli Lilly and Co Ltd., Basingstoke, UK.
J Child Adolesc Psychopharmacol 2005 Apr;15(2):147-9