23 Publications
Neurogenetics 2021 Jan 7. Epub 2021 Jan 7.
Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
J Neuromuscul Dis 2020 Dec 22. Epub 2020 Dec 22.
Center for Gene Therapy, Nationwide Children's Hospital and Departments of Pediatrics and Neurology, Ohio State University, Columbus, Ohio, USA.
Neuromuscul Disord 2019 02 21;29(2):134-137. Epub 2018 Dec 21.
Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Department of Neurology, Hospital of the University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:
Am J Hum Genet 2018 05;102(5):858-873
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Muscle Nerve 2018 05 28;57(5):859-862. Epub 2017 Dec 28.
Department of Neurology, University of Washington, Seattle, Washington, USA.
A A Case Rep 2017 Oct;9(7):199-203
From the Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware.
Am J Med Genet A 2016 10 18;170(10):2559-69. Epub 2016 May 18.
National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
Hum Mutat 2015 Dec 23;36(12):1159-63. Epub 2015 Sep 23.
Departments of Pediatrics and Neurology, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Mol Genet Genomic Med 2015 Jul 21;3(4):248-57. Epub 2015 Mar 21.
Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Biological Sciences, University of Delaware Newark, Delaware ; Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children Wilmington, Delaware ; Department of Pediatrics, Thomas Jefferson University Philadelphia, Pennsylvania.
J Neuropathol Exp Neurol 2014 May;73(5):425-41
From the National Institute of Nursing Research, Bethesda, Maryland (KGM); National Institute of Neurological Disorders and Stroke, Bethesda, Maryland (KZ, JD, YH, SD, CGB); Children's Hospital of Philadelphia, Philadelphia, Pennsylvania (LM, LBR-A); Division of Pediatric Neurology, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama (PF); Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware (NP-H, MS); Prevention Genetics, Marshfield, Wisconsin (TLW); Pediatric Neurology Department, National Neuroscience Institute (AA), and Division of Medical Genetics, Department of Pediatrics, The Children's Hospital (AWE), King Fahad Medical City; and College of Medicine, King Saud bin Abdulaziz University for Health Sciences (AA,AWE), Riyadh, Kingdom of Saudi Arabia; Department of Pathology, Brigham and Women's Hospital (JAG); and Harvard Medical School (JAG), Boston, Massachusetts; Department of Pathology, Wills Eye Institute, Thomas Jefferson University, Philadelphia, Pennsylvania (RE); Nemours Children's Hospital, Orlando, Florida (RF); and Medical Examiner's Office, Mount Holly, New Jersey (ICH).
Genet Med 2014 Oct 20;16(10):751-8. Epub 2014 Mar 20.
1] Center for Human Genome Variation and Department of Medicine, Duke University School of Medicine, Durham, North Carolina, USA [2] Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina, USA.
Brain 2009 Nov 31;132(Pt 11):3165-74. Epub 2009 Aug 31.
Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK.
BMC Cell Biol 2009 May 16;10:40. Epub 2009 May 16.
Nemours Biomedical Research, Alfred I, duPont Hospital for Children, Wilmington, DE, USA.
Brain 2009 Feb 29;132(Pt 2):452-64. Epub 2009 Jan 29.
Division of Neurology, The Children's Hospital of Philadelphia, Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.
Neurogenetics 2007 Nov 24;8(4):271-8. Epub 2007 Jul 24.
Nemours Biomedical Research, Alfred I. duPont Hospital for Children, P.O. Box 269, Wilmington, DE 19899, USA.
IEEE Trans Neural Syst Rehabil Eng 2007 Jun;15(2):244-51
Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19899, USA.
J Rehabil Res Dev 2006 Aug-Sep;43(5):583-90
Department of Biomedical Research, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19899, USA.
J Pediatr Orthop 2006 Jul-Aug;26(4):438-43
Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
Ann Neurol 2006 Feb;59(2):358-64
Department of Neurology and Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI 48201, USA.
Mol Genet Metab 2005 May 16;85(1):38-45. Epub 2005 Feb 16.
Nemours Biomedical Research, Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USA.
J Pediatr Orthop 2005 May-Jun;25(3):360-5
Alfred I. duPont Hospital for Children, 1600 Rockland Road, PO Box 269, Wilmington, DE 19899, USA.
J Pediatr 2004 Aug;145(2):190-3
Division of Endocrinology, Department of Research, Nemours Children's Clinic-Wilmington, Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.
Ann Neurol 2002 Feb;51(2):190-201
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.