Neurol Genet 2020 Apr 2;6(2):e402. Epub 2020 Mar 2.
Department of Neurology (E.B., V.E., S.D., K.E., X.Q.R., M.H.), Columbia University Medical Center, New York; Department of Biostatistics (Y.L., V.C., J.K., J. Grier, R.B., J.L.P.T.), Mailman School of Public Health, Columbia University, New York; Radboudumc (R.S.), Nijmegen, The Netherlands; Department of Pediatrics (B.H.C.), Northeast Ohio Medical University and Akron Children's Hospital; Genetics Unit (A.K.), Massachusetts General Hospital, Boston; Department of Pediatrics (G.D.V.), State University of New York at Buffalo; Departments of Neurosciences and Pediatrics (R.H.), University of California at San Diego; Department of Pediatrics (J.L.K.V.H., A.L.), University of Colorado School of Medicine, Aurora; Department of Molecular and Human Genetics (F.S.), Baylor College of Medicine, Houston, TX; Texas Children's Hospital (F.S.), Houston; Joint BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; Department of Neurology (S.P.), Cleveland Clinic, OH; Departments of Genetics and Genome Sciences and Pediatrics (J.K.B., S.D.D.), and Center for Human Genetics, University Hospitals Cleveland Medical Center, Case Western Reserve University, OH; Departments of Neurology and Clinical Genomics (R.H.G.), Mayo Clinic, Rochester, MN; Department of Neurology (R.P.S.), University of Washington, Seattle Children's Hospital; Department of Pediatrics (G.M.E.), Stanford University, Palo Alto, CA; Department of Medicine (P.W.S.), University of Florida at Gainesville; Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai (J. Ganesh), New York; Mitochondrial Medicine Frontier Program (Z.Z.-C., M.J.F., A.C.G.), Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; University of Pennsylvania Perelman School of Medicine (Z.Z.-C.), Philadelphia; Department of Neurology (M.T.), McMasters University, Toronto, Ontario, Canada; Department of Neurology (A.G.), Children's National Health Network, Washington, DC; Office of Dietary Supplements (K.C.), National Institutes of Health, Bethesda, MD; and Eunice Kennedy Shriver National Institute of Child Health and Human Development (D.K.), National Institutes of Health, Bethesda, MD.
Mol Genet Metab Rep 2020 Mar 30;22:100567. Epub 2020 Jan 30.
Lysosomal Storage Disease Program, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Microorganisms 2019 Oct 19;7(10). Epub 2019 Oct 19.
Interdisciplinary Biology, Rajiv Gandhi Centre for Biotechnology (RGCB), Thiruvananthapuram 695 014, Kerala, India.
J Med Genet 2019 12 26;56(12):850-854. Epub 2018 Nov 26.
Department of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
Nat Genet 2018 10 17;50(10):1442-1451. Epub 2018 Sep 17.
Max Planck Institute of Immunobiology and Epigenetics, Freiburg im Breisgau, Germany.
Am J Med Genet A 2018 08 28;176(8):1711-1722. Epub 2018 Jul 28.
Genetics Unit, MassGeneral Hospital for Children, Boston, Massachusetts.
Genet Med 2017 12 26;19(12). Epub 2017 Oct 26.
Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
Genet Med 2017 12 27;19(12). Epub 2017 Jul 27.
Am J Hum Genet 2015 Sep 27;97(3):483-92. Epub 2015 Aug 27.
Institut fuer Medizinische Genetik und Humangenetik, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany; FG Development & Disease, Max-Planck-Institut fuer Molekulare Genetik, 14195 Berlin, Germany; Berlin-Brandenburg Center for Regenerative Therapies, Charité-Universitaetsmedizin Berlin, 13353 Berlin, Germany. Electronic address:
Am J Med Genet A 2015 Oct 31;167A(10):2411-7. Epub 2015 May 31.
Genetics Program, Children's Regional Hospital, Cooper University Health Care.
Hum Mutat 2015 Apr 17;36(4):454-62. Epub 2015 Mar 17.
Unit of Clinical Genetics and Functional Genomics, Departments of Pharmacology-Physiology and Pediatrics, Medical School, University of Zaragoza, CIBERER-GCV and ISS-Aragon, Zaragoza, Spain.
Pediatr Dev Pathol 2013 Nov-Dec;16(6):415-24. Epub 2013 Sep 19.
1 Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, CA 94305 USA.
Mitochondrion 2014 Jan 26;14(1):26-33. Epub 2013 Jul 26.
Seattle Children's Hospital/University of Washington, Seattle, WA, United States.
JIMD Rep 2012 13;5:17-20. Epub 2011 Dec 13.
Department of Pediatrics, Section of Biochemical Genetics, The Children's Hospital of Philadelphia, 34th St & Civic Center Blvd, Philadelphia, PA, 19104, USA.
Pediatrics 2013 Feb 6;131(2):e629-34. Epub 2013 Jan 6.
Children's Hospital of Philadelphia, 3550 Market St, 3rd Floor, Philadelphia, PA 19104, USA.
Pediatr Nephrol 2013 Mar 8;28(3):515-9. Epub 2012 Nov 8.
Division of Genetics, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, 601 Elmwood Ave, Box 777, Rochester, NY 14623, USA.
J Child Neurol 2013 Feb 25;28(2):236-42. Epub 2012 May 25.
Department of Neurology, Columbia University Medical Center, New York, NY, USA.
J Med Genet 2011 Sep 3;48(9):590-2. Epub 2011 Aug 3.
Department of Human Genetics, Department of Medical Genetics, McGill University Health Centre, Montreal General Hospital, 1650 Cedar Avenue, Room L3-319, Montreal, QC H3G 1A4, Canada.
Mol Genet Metab 2011 Aug 7;103(4):349-57. Epub 2011 May 7.
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB2015, Houston, TX 77030, USA.
Am J Med Genet A 2011 Jun 5;155A(6):1461-4. Epub 2011 May 5.
Division of Gastroenterology, Hepatology and Nutrition, University of Pennsylvania School of Medicine, The Children's Hospital of Philadelphia, Pennsylvania 19104, USA.
Mol Genet Metab 2010 Jul 14;100(3):296-9. Epub 2010 Apr 14.
Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Nat Genet 2009 Nov 25;41(11):1223-7. Epub 2009 Oct 25.
Neurology 2009 Sep;73(11):e54-6
Human Motor Control Section, National Institute of Neurological Disorders and Stroke, NIH, Bldg. 10, Rm. 7D42, 10 Center Dr., MSC 1428, Bethesda, MD 20892, USA.
Pediatr Radiol 2009 Sep 27;39(9):1006-9. Epub 2009 May 27.
Department of Radiology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA 19104-4399, USA.
Arch Neurol 2008 Aug;65(8):1108-13
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center, Study of Children's Mitochondrial Disorders, C Besta Neurological Institute Foundation, Milano, Italy.
Pediatrics 2008 Jul;122(1):210-1; author reply 211
Hum Mutat 2008 Sep;29(9):E150-72
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Mol Genet Metab 2008 Aug 3;94(4):498-502. Epub 2008 Jun 3.
Division of Metabolic Diseases, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Neuromuscul Disord 2008 Jun 27;18(6):453-9. Epub 2008 May 27.
Departamento de Bioquímica, Hospital Universitario Puerta de Hierro, Instituto de Investigaciones Biomédicas, CSIC-UAM, CIBERER, ISCiii, Madrid, Spain.
Arch Neurol 2008 Mar;65(3):368-72
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Arch Pediatr Adolesc Med 2007 Dec;161(12):1190-6
Department of General Pediatrics, 3535 Market, Room 1523, The Children's Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, USA.
Am J Med Genet B Neuropsychiatr Genet 2007 Oct;144B(7):946-8
Children's and Adolescents' Hospital, University of Erlangen-Nuremberg, Erlangen, Germany.
Pediatr Diabetes 2007 Apr;8(2):53-9
Division of Endocrinology and Diabetes, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4399, USA.
Pediatr Emerg Care 2004 Apr;20(4):224-7
Division of Emergency Medicine, The Children's Hospital of Philadelphia, and the Department of Pediatrics, The University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.