Publications by authors named "Marni J Falk"

Ann Neurol 2020 Dec 27. Epub 2020 Dec 27.

Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA.

Curr Opin Pediatr 2020 Dec;32(6):707-718

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia.

J Inherit Metab Dis 2020 Oct 2. Epub 2020 Oct 2.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Hum Mutat 2020 Dec 10;41(12):2028-2057. Epub 2020 Nov 10.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Genet Med 2020 Nov;22(11):1920

Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.

Ann Neurol 2020 08 13;88(2):218-232. Epub 2020 Jun 13.

Division of Neuroradiology, Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Clin Lab Med 2020 06;40(2):149-161

Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA. Electronic address:

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.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

Neurology 2020 02 2;94(7):e687-e698. Epub 2020 Jan 2.

From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.

PLoS One 2019 3;14(9):e0221829. Epub 2019 Sep 3.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America.

Am J Hum Genet 2019 08 25;105(2):283-301. Epub 2019 Jul 25.

Department of Pediatrics, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 EA Utrecht, the Netherlands. Electronic address:

Front Physiol 2019 6;10:699. Epub 2019 Jun 6.

Maternal and Child Health Research Center, Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, United States.

JAMA Pediatr 2019 04;173(4):404

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Cancer Res 2019 04 1;79(7):1318-1330. Epub 2019 Feb 1.

Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

J Med Genet 2019 03 25;56(3):123-130. Epub 2019 Jan 25.

Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.

Hum Mol Genet 2019 06;28(11):1837-1852

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Curr Genet Med Rep 2018 Jun 2;6(2):62-72. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Curr Genet Med Rep 2018 Jun 2;6(2):52-61. Epub 2018 May 2.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Genet Med 2019 04 24;21(4):850-860. Epub 2018 Sep 24.

Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.

Curr Opin Pediatr 2018 12;30(6):714-724

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia.

Hum Mol Genet 2018 10;27(19):3305-3312

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.

PLoS One 2018 17;13(5):e0197513. Epub 2018 May 17.

Mitochondrial Medicine Frontier Program, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

Am J Hum Genet 2018 04;102(4):713

J Endocr Soc 2018 Apr 19;2(4):361-373. Epub 2018 Feb 19.

North American Mitochondrial Disease Consortium, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Mol Genet Metab Rep 2018 Jun 9;15:74. Epub 2018 Mar 9.

Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

Hum Mutat 2018 06 6;39(6):806-810. Epub 2018 Apr 6.

Center for Personalized Medicine, Department of Pathology & Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

Mol Genet Metab 2018 04 23;123(4):449-462. Epub 2018 Feb 23.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

Mol Genet Metab 2018 03 2;123(3):301-308. Epub 2018 Feb 2.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address:

Aging Dis 2018 Feb 1;9(1):17-30. Epub 2018 Feb 1.

1Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Genet Med 2017 12 26;19(12). Epub 2017 Oct 26.

Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

J Inherit Metab Dis 2018 03 20;41(2):157-168. Epub 2017 Nov 20.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.

Annu Rev Pathol 2018 01 3;13:163-191. Epub 2017 Nov 3.

Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA; email:

Mitochondrion 2018 05 3;40:42-50. Epub 2017 Oct 3.

Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States. Electronic address:

J Inherit Metab Dis 2018 01;41(1):151

Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

Am J Hum Genet 2017 Aug;101(2):239-254

Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia; Victorian Clinical Genetic Services, Royal Children's Hospital, Melbourne, VIC 3052, Australia. Electronic address:

Toxicology 2017 11 27;391:90-99. Epub 2017 Jul 27.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, United Staes.

Mitochondrion 2018 01 25;38:6-16. Epub 2017 Jul 25.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

Genet Med 2017 12 27;19(12). Epub 2017 Jul 27.

Department of Clinical Neurosciences & MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.

Neurochem Int 2018 07 18;117:23-34. Epub 2017 Jul 18.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

J Inherit Metab Dis 2017 Sep 27;40(5):673-683. Epub 2017 Apr 27.

Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.

Mol Genet Metab 2017 06 19;121(2):119-126. Epub 2017 Apr 19.

Division of Vascular Surgery, Hospital of the University of Pennsylvania, Perelman School of Medicine at the University of Pennsylvania, Philadelphia PA & Department of Surgery, Corporal Michael Crescenz VA, Philadelphia, PA, United States.

J Inherit Metab Dis 2017 05 16;40(3):403-414. Epub 2017 Mar 16.

Children's Hospital of Pittsburgh, 4401 Penn Avenue, Pittsburgh, PA, 15224, USA.

JCI Insight 2016 11 3;1(18):e88207. Epub 2016 Nov 3.

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia.

Mol Genet Metab 2016 11 20;119(3):187-206. Epub 2016 Sep 20.

Office of Dietary Supplements, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

J Inherit Metab Dis 2017 03 20;40(2):291-296. Epub 2016 Oct 20.

Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, 34th and Civic Center Blvd, 5NW58, Philadelphia, PA, 19104, USA.

Am J Hum Genet 2016 Oct 8;99(4):802-816. Epub 2016 Sep 8.

University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

J Inherit Metab Dis 2016 09 9;39(5):705-712. Epub 2016 Jun 9.

Radboudn Center for Mitochondrial Medicine at the Department of Paediatrics, Radboudumc, Geert Grooteplein 10. 6500 HB, PO BOX 9101, Nijmegen, The Netherlands.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

Cold Spring Harb Mol Case Stud 2016 May;2(3):a001065

Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Clin Nephrol 2016 Jun;85(6):346-52

RNA Biol 2016 05 7;13(5):477-85. Epub 2016 Mar 7.

d Department of Biochemistry and Molecular Biology , Thomas Jefferson University , Philadelphia , PA , USA.

Hum Mutat 2016 06 21;37(6):540-548. Epub 2016 Mar 21.

Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.

N Engl J Med 2016 Mar 24;374(12):1103-6. Epub 2016 Feb 24.

From the Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia (M.J.F.); the National Institute of Child Health and Development, National Institutes of Health, Bethesda, MD (A.D.); and the Johns Hopkins Berman Institute of Bioethics, Johns Hopkins University, Baltimore (J.P.K.).

Free Radic Biol Med 2016 Apr 5;93:177-89. Epub 2016 Feb 5.

Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; University of Pennsylvania, Philadelphia, PA 19104, USA.

J Med Genet 2015 Dec 30;52(12):804-14. Epub 2015 Sep 30.

Division of Clinical Genetics, Children's Hospital of Philadelphia, Philadelphia, USA.

Hum Mutat 2015 Oct 12;36(10):950-6. Epub 2015 Aug 12.

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, Florida, 33136.

Mol Ther 2015 Oct 10;23(10):1592-9. Epub 2015 Jul 10.

Department of Neurology, University of Miami Miller School of Medicine Miami, Miami, Florida, USA.

Front Genet 2015 5;6:199. Epub 2015 Jun 5.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

Hum Mol Genet 2015 Sep 3;24(17):4829-47. Epub 2015 Jun 3.

Division of Human Genetics, Department of Pediatrics and

Mitochondrion 2015 May 3;22:45-59. Epub 2015 Mar 3.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA. Electronic address:

Mol Genet Metab 2015 Mar 4;114(3):388-96. Epub 2014 Dec 4.

Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA. Electronic address:

Bioinformatics 2015 Apr 12;31(8):1310-2. Epub 2014 Dec 12.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA, Center for Biomedical Informaticsand Center for Mitochondrial and Epigenomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA, Department of Clinical Genetics, Maastricht University Medical Centre, The Netherlands, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA and Department of Forensic Molecular Biology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.

Genet Med 2015 Sep 11;17(9):689-701. Epub 2014 Dec 11.

Department of Neurology, Columbia University Medical Center, New York, New York, USA.

J Med Genet 2015 Feb 20;52(2):104-10. Epub 2014 Nov 20.

Division of Human Genetics, The Children's Hospital of Philadelphia, Clinical Genetics Center, and the Perelman School of Medicine of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Hum Mol Genet 2015 Jan 28;24(1):230-42. Epub 2014 Aug 28.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA

Methods 2014 Oct 27;69(3):315-25. Epub 2014 Jun 27.

Department of Computer Science, Wayne State University, 5057 Woodward Avenue, Suite 3010, Detroit, MI 48202, USA. Electronic address:

JIMD Rep 2014 29;14:119. Epub 2014 Jun 29.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA, 19104, USA,

Cell Rep 2014 May;7(4):935-7

Divisions of Human Genetics and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

Int J Biochem Cell Biol 2014 May 22;50:106-11. Epub 2014 Feb 22.

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States. Electronic address:

J Mol Biol 2014 May 14;426(11):2199-216. Epub 2014 Feb 14.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA. Electronic address:

JIMD Rep 2014 11;14:77-85. Epub 2014 Feb 11.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA, 19104, USA,

Mol Genet Metab 2014 Mar 27;111(3):331-341. Epub 2013 Dec 27.

Division of Human Genetics, The Children's Hospital of Philadelphia, and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

Am J Hum Genet 2013 Sep 29;93(3):482-95. Epub 2013 Aug 29.

Department of Molecular Pharmacology and Therapeutics, Loyola University Stritch School of Medicine, Maywood, IL 60153, USA.

Mol Genet Metab 2013 Sep-Oct;110(1-2):145-52. Epub 2013 Jul 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

PLoS One 2013 24;8(7):e69282. Epub 2013 Jul 24.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

Mitochondrion 2014 Jan 26;14(1):26-33. Epub 2013 Jul 26.

Seattle Children's Hospital/University of Washington, Seattle, WA, United States.

J Med Genet 2013 Oct 11;50(10):704-14. Epub 2013 Jul 11.

IRCAN, CNRS UMR 7284/Inserm U1081/UNS, Faculté de Médecine, Nice, France.

Discov Med 2012 Dec;14(79):389-99

Division of Human Genetics and Division of Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

Neurotherapeutics 2013 Apr;10(2):251-61

Divisions of Human Genetics and Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

Nat Genet 2012 Sep 29;44(9):1040-5. Epub 2012 Jul 29.

Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Pennsylvania, USA.

Discov Med 2012 Feb;13(69):143-50

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

Methods Mol Biol 2012 ;837:241-55

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Methods Mol Biol 2012 ;837:231-9

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

Hum Mutat 2012 Mar 31;33(3):457-66. Epub 2012 Jan 31.

Division of Genetics and Metabolism, University of Minnesota Medical Center, Fairview, Minneapolis, Minnesota, USA.

Curr Biol 2011 Dec 1;21(24):2070-6. Epub 2011 Dec 1.

Department of Genetics, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA.

BMC Bioinformatics 2011 Oct 19;12:402. Epub 2011 Oct 19.

Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

Mitochondrion 2012 Mar 1;12(2):248-57. Epub 2011 Oct 1.

Department of Genetics, The University of Pennsylvania School of Medicine, Philadelphia, PA, 19104, USA.

Curr Opin Ophthalmol 2011 Sep;22(5):325-31

Division of Human Genetics and Child Development, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

EMBO Mol Med 2011 Jul 8;3(7):410-27. Epub 2011 Jun 8.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

J Vis Exp 2011 Feb 27(48). Epub 2011 Feb 27.

Department of Pediatrics, The Children's Hospital of Philadelphia, USA.

Curr Opin Pediatr 2010 Dec;22(6):711-6

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.

Dev Disabil Res Rev 2010 ;16(2):200-18

Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245-3207, USA.

Dev Disabil Res Rev 2010 ;16(2):105

J Dev Behav Pediatr 2010 Sep;31(7):610-21

Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

Biochemistry 2010 Sep;49(35):7467-73

Department of Pediatrics, The University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA.