부산대학교 도서관

Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Raboisson, Marie Josee ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Cunningham, Zarazuela Zolkipli ; Rahman, Shamima ; Chinnery, Patrick F

In Genetics in Medicine December 2017 19(12):1380-1397

Hashimoto, Masami ; Bacman, Sandra R ; Peralta, Susana ; Falk, Marni J ; Chomyn, Anne ; Chan, David C ; Williams, Sion L ; Moraes, Carlos T

In Molecular Therapy October 2015 23(10):1592-1599

Parikh, Sumit ; Goldstein, Amy ; Karaa, Amel ; Koenig, Mary Kay ; Anselm, Irina ; Brunel-Guitton, Catherine ; Christodoulou, John ; Cohen, Bruce H ; Dimmock, David ; Enns, Gregory M ; Falk, Marni J ; Feigenbaum, Annette ; Frye, Richard E ; Ganesh, Jaya ; Griesemer, David ; Haas, Richard ; Horvath, Rita ; Korson, Mark ; Kruer, Michael C ; Mancuso, Michelangelo ; McCormack, Shana ; Josee Raboisson, Marie ; Reimschisel, Tyler ; Salvarinova, Ramona ; Saneto, Russell P ; Scaglia, Fernando ; Shoffner, John ; Stacpoole, Peter W ; Sue, Carolyn M ; Tarnopolsky, Mark ; Van Karnebeek, Clara ; Wolfe, Lynne A ; Zolkipli Cunningham, Zarazuela ; Rahman, Shamima ; Chinnery, Patrick F

In Genetics in Medicine December 2017 19(12):1380-1381

Elander, Johanna; McCormick, Elizabeth M; Värendh, Maria; Stenfeldt, Karin; Ganetzky, Rebecca D; Goldstein, Amy; Zolkipli-Cunningham, Zarazuela; MacMullen, Laura E; Xiao, Rui; Falk, Marni J; Ehinger, Johannes K

Molecular Genetics and Metabolism Genetic hearing loss in children - Genetic variation and parental experiences of genetic diagnostics. 137(3):230-238

George-Sankoh, Ibrahim; MacMullen, Laura E; Chinwalla, Asif T; Taylor, Deanne; Ganetzky, Rebecca D; Stanley, Katelynn; McCormick, Elizabeth M; Zolkipli-Cunningham, Zarazuela; Falk, Marni J

JAMIA Open; Dec2024, Vol. 7 Issue 4, p1-10, 10p

Burg L; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Yoon H; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Peng M; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Germano P; Cyclerion Therapeutics, Cambridge, MA, United States.; Reesey Gretzmacher E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Xiao R; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Nakamaru-Ogiso E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.

Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

Meldau S; National Health Laboratory Service Cape Town South Africa.; Division of Chemical Pathology, Department of Pathology University of Cape Town Cape Town South Africa.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.; George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.; Department of Bioinformatics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.; Riordan GT; Division of Paediatric Neurology, Department of Paediatrics and Child Health Red Cross War Memorial Children's Hospital, University of Cape Town Cape Town South Africa.; Khan K; National Health Laboratory Service Cape Town South Africa.; Division of Chemical Pathology, Department of Pathology University of Cape Town Cape Town South Africa.; MacMullen LE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.; Dawlat S; National Health Laboratory Service Cape Town South Africa.; Blackhurst D; Division of Chemical Pathology, Department of Pathology University of Cape Town Cape Town South Africa.; Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA.; Department of Pediatrics University of Pennsylvania Perelman School of Medicine Philadelphia Pennsylvania USA.; Elson JL; Biosciences Institute, Newcastle University Newcastle Upon Tyne UK.; Centre for Human Metabolomics North-West University Potchefstroom South Africa.

Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

Peng M; Keith K; Dalwadi S; Anderson VE; Resnick A; Falk MJ

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Remes C; Keith K; Xiao R; Anderson VE; Iadarola DM; Nakamaru-Ogiso E; Mathew ND; Falk MJ

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Alves CAPF; From the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania cesar.alves@childrens.harvard.edu.; Division of Neuroradiology, Department of Radiology (C.A.P.F.A.), The Boston Children's Hospital-Harvard Medical School, Boston, Massachusetts.; Rossi-Espagnet MC; Diagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Perez F; Division of Neuroradiology, Department of Radiology (F.P.), Texas Children's Hospital, Houston, Texas.; Manteghinejad A; From the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Peterson JT; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Ganetzky R; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Napolitano A; Medical Physics Unit (A.N., F.G.), Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Grassi F; Medical Physics Unit (A.N., F.G.), Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Yildiz H; Department of Radiology (H.Y.), Bursa Dortcelik Children's Hospital, Turkey.; Muraresku C; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Martinelli D; Division of Metabolism (D.M.), Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Longo D; Diagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Vanderver A; Division of Neurology (A. Vanderver), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Gandolfo C; Functional and Interventional Neuroimaging Unit (C.G.), Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Diagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children's Hospital, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Saneto RP; Division of Pediatric Neurology (R.P.S.), Seattle Children's Hospital, University of Washington, Seattle, Washington.; Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania.; Vossough A; From the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics and Radiology (A. Vossough), Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania.

Publisher: American Society of Neuroradiology Country of Publication: United States NLM ID: 8003708 Publication Model: Electronic Cited Medium: Internet ISSN: 1936-959X (Electronic) Linking ISSN: 01956108 NLM ISO Abbreviation: AJNR Am J Neuroradiol Subsets: MEDLINE

Wang J; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Peterson JT; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Santos JDD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Chan AJS; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Diaz-Miranda MA; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Rahaman I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Flickinger J; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Bogush E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Dulik MC; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Wallace DC; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Xiao R; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.; Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Viaene AN; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States.; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Publisher: Frontiers Media] Country of Publication: Switzerland NLM ID: 101548923 Publication Model: eCollection Cited Medium: Print ISSN: 1663-9812 (Print) Linking ISSN: 16639812 NLM ISO Abbreviation: Front Pharmacol Subsets: PubMed not MEDLINE

Haroon, Suraiya; Yoon, Heeyong; Seiler, Christoph; Osei-Frimpong, Bruce; He, Jie; Nair, Rohini M; Mathew, Neal D; Burg, Leonard; Kose, Melis; Venkata, Chavali R M; Anderson, Vernon E; Nakamaru-Ogiso, Eiko; Falk, Marni J

Human Molecular Genetics; Jun2023, Vol. 32 Issue 12, p1988-2004, 17p

Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Boris JR; Jeffrey R. Boris, MD LLC Moylan PA USA.; Shadiack EC 3rd; War Related Illness and Injury Study Center, VA New Jersey Healthcare System East Orange NJ USA.; McCormick EM; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; MacMullen L; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; George-Sankoh I; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; Falk MJ; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; Perelman School of Medicine University of Pennsylvania Philadelphia PA USA.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

Karaa A; Massachusetts General Hospital, Genetics Division Harvard Medical School Boston, Boston, MA, USA. AKARAA@mgh.harvard.edu.; Bertini E; Neuromuscular Unit, Bambino Gesù Ospedale Pediatrico, IRCCS, Rome, Italy.; Carelli V; IRCCS Istituto Delle Scienze Neurologiche Di Bologna, Programma Di Neurogenetica, Bologna, Italy.; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.; Cohen B; Akron Children's Hospital, Rebecca D. Considine Research Institute, Akron, OH, USA.; Ennes GM; Stanford University School of Medicine, Stanford, CA, USA.; Falk MJ; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA.; Goldstein A; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Mitochondrial Medicine Frontier Program, Philadelphia, PA, USA.; Gorman G; Royal Victoria Infirmary, Newcastle Upon Tyne, England.; Haas R; University of California, San Diego, La Jolla, CA, USA.; Hirano M; Columbia University Irving Medical Center, New York, NY, USA.; Klopstock T; Department of Neurology, LMU Hospital, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität Munich, Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich, Germany.; Koenig MK; Department of Pediatrics, Division of Child and Adolescent Neurology, Center for the Treatment of Pediatric Neurodegenerative Disease, University of Texas McGovern Medical School, Houston, TX, USA.; Kornblum C; Department of Neurology, University Hospital of Bonn, Neuromuscular Diseases Section, Bonn, Germany.; Lamperti C; Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Lehman A; Vancouver General Hospital, Vancouver, BC, Canada.; Longo N; University of Utah, Salt Lake City, UT, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Parikh S; Cleveland Clinic Neurological Institute, Cleveland, OH, USA.; Phan H; Rare Disease Research, Atlanta, GA, USA.; Pitceathly RDS; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Queen Square Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK.; Saneto R; Seattle Children's Hospital, Seattle, WA, USA.; Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Sha Tin, Hong Kong SAR, China.; Servidei S; Fondazione Policlinico Universitario A. Gemelli and Istituto Di Neurologia, Università Cattolica del Sacro Cuore, Rome, Italy.; Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, McMaster University Children's Hospital, Hamilton, ON, Canada.; Toscano A; Department of Clinical and Experimental Medicine, ERN-NMD Center for Neuromuscular Disorders of Messina, University of Messina, Messina, Italy.; Van Hove JLK; University of Colorado and Children's Hospital Colorado, Aurora, CO, USA.; Vissing J; Copenhagen Neuromuscular Center, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.; Vockley J; Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.; Finman JS; Jupiter Point Pharma Consulting, LLC, Jupiter, CT, USA.; Abbruscato A; Stealth BioTherapeutics, Needham, MA, USA.; Brown DA; Stealth BioTherapeutics, Needham, MA, USA.; Sullivan A; Stealth BioTherapeutics, Needham, MA, USA.; Shiffer JA; Write On Time Medical Communications, LLC, Medford, NJ, USA.; Mancuso M; Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy.

Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Boris JR; Jeffrey R. Boris, MD LLC Moylan PA USA.; Shadiack EC 3rd; War Related Illness and Injury Study Center, VA New Jersey Healthcare System East Orange NJ USA.; McCormick EM; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; MacMullen L; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; George-Sankoh I; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; Falk MJ; Mitochondrial Medicine Frontier Program Children's Hospital of Philadelphia Philadelphia PA USA.; Department of Pediatrics, Perelman School of Medicine University of Pennsylvania Philadelphia PA USA.

Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

Chandel NS; Northwestern University, Chicago, IL, USA. nav@northwestern.edu.; Falk MJ; Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA. falkm@chop.edu.; Santos JH; Mechanistic Toxicology Branch, Division of Translational Toxicology, National Institute of Environmental Health Sciences (NIEHS), National Institutes of Health (NIH), Durham, NC, USA. janine.santos@nih.gov.; Brestoff JR; Washington University School of Medicine, St. Louis, MO, USA. Brestoff@wustl.edu.; Lechuga-Vieco AV; Institute for Research in Biomedicine, Barcelona, Spain. ana.lechugavieco@irbbarcelona.org.; Sancak YS; University of Washington, Seattle, WA, USA. sancak@uw.edu.; Chen Q; State Key Laboratory of Membrane Biology, Institute of Zoology, Chinese Academy of Sciences, Nankai University, Tianjin, China. chenq@ioz.ac.cn.; Elorza AA; Universidad Andrés Bello, Santiago, Chile. alvaro.elorza@unab.cl.; Quintana-Cabrera R; Cajal Institute, Cajal Neuroscience Center, CSIC, Madrid, Spain. rubenqc@cajal.csic.es.

Publisher: Springer Nature Country of Publication: Germany NLM ID: 101736592 Publication Model: Print Cited Medium: Internet ISSN: 2522-5812 (Electronic) Linking ISSN: 25225812 NLM ISO Abbreviation: Nat Metab Subsets: MEDLINE; In Process

Mitchell DV; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Iadarola DM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Mathew ND; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Keith K; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Seiler C; Zebrafish Core, The Children's Hospital of Philadelphia, Philadelphia, PA.; Yu S; Translational-Transdisciplinary Research Center, Clinical Research Institute, Kyung Hee University Hospital at Gangdong, Kyung Hee University College of Medicine, Seoul, Republic of Korea.; Kim MS; Translational-Transdisciplinary Research Center, Clinical Research Institute, Kyung Hee University Hospital at Gangdong, Kyung Hee University College of Medicine, Seoul, Republic of Korea.; Woodard N; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Anderson VE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Nakamaru-Ogiso E; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.; Taylor DM; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.; Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Guha, Sujay; Mathew, Neal D; Konkwo, Chigoziri; Ostrovsky, Julian; Kwon, Young Joon; Polyak, Erzsebet; Seiler, Christoph; Bennett, Michael; Xiao, Rui; Zhang, Zhe; Nakamaru-Ogiso, Eiko; Falk, Marni J

Human Molecular Genetics; Apr2021, Vol. 30 Issue 7, p536-551, 16p

Falk, Marni J; Zhang, Qi; Nakamaru-Ogiso, Eiko; Kannabiran, Chitra; Fonseca-Kelly, Zoe; Chakarova, Christina; Audo, Isabelle; Mackay, Donna S; Zeitz, Christina; Borman, Arundhati Dev; Staniszewska, Magdalena; Shukla, Rachna; Palavalli, Lakshmi; Mohand-Said, Saddek; Waseem, Naushin H; Jalali, Subhadra; Perin, Juan C; Place, Emily; Ostrovsky, Julian; Xiao, Rui

Nature Genetics. Sep2012, Vol. 44 Issue 9, p1040-1045. 6p. 1 Color Photograph, 1 Chart, 2 Graphs.