부산대학교 도서관

Amarasekera, Sumudu S C; Hock, Daniella H; Lake, Nicole J; Calvo, Sarah E; Grønborg, Sabine W; Krzesinski, Emma I; Amor, David J; Fahey, Michael C; Simons, Cas; Wibrand, Flemming; Mootha, Vamsi K; Lek, Monkol; Lunke, Sebastian; Stark, Zornitza; Østergaard, Elsebet; Christodoulou, John; Thorburn, David R; Stroud, David A; Compton, Alison G

Human Molecular Genetics; Aug2023, Vol. 32 Issue 15, p2441-2454, 14p

Kornblum, Cornelia; Nicholls, Thomas J; Haack, Tobias B; Schöler, Susanne; Peeva, Viktoriya; Danhauser, Katharina; Hallmann, Kerstin; Zsurka, Gábor; Rorbach, Joanna; Iuso, Arcangela; Wieland, Thomas; Sciacco, Monica; Ronchi, Dario; Comi, Giacomo P; Moggio, Maurizio; Quinzii, Catarina M; DiMauro, Salvatore; Calvo, Sarah E; Mootha, Vamsi K; Klopstock, Thomas

Nature Genetics. Feb2013, Vol. 45 Issue 2, p214-219. 6p. 1 Diagram, 1 Chart, 3 Graphs.

Rath SP; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Gupta R; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Todres E; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Wang H; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Jourdain AA; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Department of Immunobiology, University of Lausanne, Epalinges 1066, Switzerland.; Ardlie KG; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Calvo SE; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.; Mootha VK; HHMI, Boston, MA 02114.; Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114.; Department of Systems Biology and Medicine, Harvard Medical School, Boston, MA 02115.; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142.

Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

Gupta R; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA. rahul_gupta@hms.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. rahul_gupta@hms.harvard.edu.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. rahul_gupta@hms.harvard.edu.; Kanai M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Durham TJ; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tsuo K; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; McCoy JG; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kotrys AV; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Zhou W; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Karczewski KJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Neale BM; Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. bneale@broadinstitute.org.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA. vamsi_mootha@hms.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. vamsi_mootha@hms.harvard.edu.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA. vamsi_mootha@hms.harvard.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: PubMed not MEDLINE; MEDLINE

Garone, Caterina; D’Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Maria Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah E; Mootha, Vamsi K; DiMauro, Salvatore; Ferrero, Ileana; Minczuk, Michal

Human Molecular Genetics. Nov 01, 2017 26(21):4257-4266

Shi X; Cellular and Molecular Physiology Department, Yale School of Medicine, New Haven, CT, USA.; Systems Biology Institute, Yale West Campus, West Haven, CT, USA.; Reinstadler B; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute, Cambridge, MA, USA.; Shah H; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute, Cambridge, MA, USA.; To TL; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute, Cambridge, MA, USA.; Byrne K; Cellular and Molecular Physiology Department, Yale School of Medicine, New Haven, CT, USA.; Systems Biology Institute, Yale West Campus, West Haven, CT, USA.; Summer L; Cellular and Molecular Physiology Department, Yale School of Medicine, New Haven, CT, USA.; Systems Biology Institute, Yale West Campus, West Haven, CT, USA.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute, Cambridge, MA, USA.; Goldberger O; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Doench JG; Broad Institute, Cambridge, MA, USA.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute, Cambridge, MA, USA.; Shen H; Cellular and Molecular Physiology Department, Yale School of Medicine, New Haven, CT, USA. hongying.shen@yale.edu.; Systems Biology Institute, Yale West Campus, West Haven, CT, USA. hongying.shen@yale.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Singh C; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA; Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Jin B; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA; Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Shrestha N; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA; Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Markhard AL; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Panda A; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Deik A; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Pan X; The Scintillon Institute, San Diego, CA 92121, USA.; Zuckerman AL; The Scintillon Institute, San Diego, CA 92121, USA; Program in Mathematics and Science Education, University of California, San Diego, La Jolla, CA 92093; Program in Mathematics and Science Education, San Diego State University, San Diego, CA 92120.; Ben Saad A; Division of Gastroenterology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Corey KE; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA.; Sjoquist J; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA.; Osganian S; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA.; AminiTabrizi R; Metabolomics Platform, Comprehensive Cancer Center, the University of Chicago, Chicago, IL 60637, USA.; Rhee EP; Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Nephrology Division, Massachusetts General Hospital, Boston, MA 02114, USA.; Shah H; Metabolomics Platform, Comprehensive Cancer Center, the University of Chicago, Chicago, IL 60637, USA.; Goldberger O; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA.; Mullen AC; Division of Gastroenterology, University of Massachusetts Chan Medical School, Worcester, MA 01655, USA.; Cracan V; The Scintillon Institute, San Diego, CA 92121, USA; Department of Chemistry, the Scripps Research Institute, La Jolla, CA 92037, USA.; Clish CB; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Goodman RP; Liver Center, Division of Gastroenterology, Massachusetts General Hospital, Boston, MA 02114, USA; Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA. Electronic address: rpgoodman@mgh.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 101233170 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-7420 (Electronic) Linking ISSN: 15504131 NLM ISO Abbreviation: Cell Metab Subsets: MEDLINE

Lieber, Daniel S; Calvo, Sarah E; Shanahan, Kristy; Slate, Nancy G; Liu, Shangtao; Hershman, Steven G; Gold, Nina B; Chapman, Brad A; Thorburn, David R; Berry, Gerard T; Schmahmann, Jeremy D; Borowsky, Mark L; Mueller, David M; Sims, Katherine B; Mootha, Vamsi K

Neurology. 5/7/2013, Vol. 80 Issue 19, p1762-1770. 9p.

Gopal RK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Medicine, Massachusetts General Hospital, Boston, -Massachusetts.; Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Vantaku VR; Harvard Medical School, Boston, Massachusetts.; Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts.; Panda A; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Reimer B; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Rath S; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; To TL; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Fisch AS; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.; Cetinbas M; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Livneh M; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.; Calcaterra MJ; Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts.; Gigliotti BJ; Department of Medicine, University of Rochester, Rochester, New York.; Pierce KA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Clish CB; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Dias-Santagata D; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.; Sadow PM; Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.; Wirth LJ; Department of Medicine, Massachusetts General Hospital, Boston, -Massachusetts.; Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Daniels GH; Department of Medicine, Massachusetts General Hospital, Boston, -Massachusetts.; Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Thyroid Unit, Massachusetts General Hospital, Boston, Massachusetts.; Sadreyev RI; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Massachusetts General Hospital, Boston, Massachusetts.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Parangi S; Cancer Center, Massachusetts General Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Surgery, Massachusetts General Hospital, Boston, Massachusetts.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Medicine, Massachusetts General Hospital, Boston, -Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.

Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101561693 Publication Model: Print Cited Medium: Internet ISSN: 2159-8290 (Electronic) Linking ISSN: 21598274 NLM ISO Abbreviation: Cancer Discov Subsets: MEDLINE

Gupta R; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA. rahul_gupta@hms.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. rahul_gupta@hms.harvard.edu.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. rahul_gupta@hms.harvard.edu.; Kanai M; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Durham TJ; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tsuo K; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; McCoy JG; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Kotrys AV; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Zhou W; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Chinnery PF; Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.; MRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.; Karczewski KJ; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Neale BM; Broad Institute of MIT and Harvard, Cambridge, MA, USA. bneale@broadinstitute.org.; Analytic and Translational Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. bneale@broadinstitute.org.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA, USA. vamsi_mootha@hms.harvard.edu.; Broad Institute of MIT and Harvard, Cambridge, MA, USA. vamsi_mootha@hms.harvard.edu.; Department of Systems Biology, Harvard Medical School, Boston, MA, USA. vamsi_mootha@hms.harvard.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Lake NJ; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia.; Stroud DA; Department of Biochemistry and Molecular Biology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.; Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia.; Calvo SE; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Mootha VK; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Morar B; Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.; Mitochondrial Medicine and Biology, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Procopis PG; Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Christodoulou J; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.; Compton AG; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Thorburn DR; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Laricchia KM; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Lake NJ; Yale School of Medicine, New Haven, Connecticut 06510, USA.; Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Watts NA; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Shand M; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Haessly A; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Gauthier L; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Benjamin D; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Banks E; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Soto J; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Garimella K; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Emery J; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Rehm HL; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Murdoch Children's Research Institute, Melbourne, Victoria 3052, Australia.; Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales 2010, Australia.; Tiao G; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Lek M; Yale School of Medicine, New Haven, Connecticut 06510, USA.; Mootha VK; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Howard Hughes Medical Institute and Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Calvo SE; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Li Y; Howard Hughes Medical Institute and Department of Molecular Biology and the Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America and Department of Systems Biology, Harvard Medical School, Boston, MA United States of America.; Department of Statistics, Harvard University, Cambridge, MA, United States of America.; Jourdain AA; Howard Hughes Medical Institute and Department of Molecular Biology and the Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America and Department of Systems Biology, Harvard Medical School, Boston, MA United States of America.; Broad Institute, Cambridge, MA, United States of America.; Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology and the Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America and Department of Systems Biology, Harvard Medical School, Boston, MA United States of America.; Broad Institute, Cambridge, MA, United States of America.; Liu JS; Department of Statistics, Harvard University, Cambridge, MA, United States of America.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology and the Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, United States of America and Department of Systems Biology, Harvard Medical School, Boston, MA United States of America.; Broad Institute, Cambridge, MA, United States of America.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7358 (Electronic) Linking ISSN: 1553734X NLM ISO Abbreviation: PLoS Comput Biol Subsets: MEDLINE

Jourdain AA; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: alexis.jourdain@unil.ch.; Begg BE; Department of Biology, MIT, Cambridge, MA 02139, USA.; Mick E; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Shah H; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Calvo SE; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Skinner OS; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Sharma R; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Blue SM; Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA.; Yeo GW; Department of Cellular and Molecular Medicine, Institute for Genomic Medicine, University of California, San Diego, La Jolla, CA 92093, USA.; Burge CB; Department of Biology, MIT, Cambridge, MA 02139, USA.; Mootha VK; Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: vamsi@hms.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 9802571 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4164 (Electronic) Linking ISSN: 10972765 NLM ISO Abbreviation: Mol Cell Subsets: MEDLINE

Calvo SE; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA Broad Institute, Cambridge, MA 02141, USA Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA vamsi@hms.harvard.edu.; Clauser KR; Broad Institute, Cambridge, MA 02141, USA.; Mootha VK; Howard Hughes Medical Institute and Department of Molecular Biology, Massachusetts General Hospital, Boston, MA 02114, USA Broad Institute, Cambridge, MA 02141, USA Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA scalvo@broadinstitute.org.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Fassone E; Duncan AJ; Taanman JW; Pagnamenta AT; Sadowski MI; Holand T; Qasim W; Rutland P; Calvo SE; Mootha VK; Bitner-Glindzicz M; Rahman S

Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: PubMed not MEDLINE

Frazier AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.; Compton AG; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; These authors contributed equally: A.E. Frazier, A.G. Compton.; Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Hock DH; Department of Biochemistry and Molecular Biology and Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Melbourne, VIC 3052, Australia.; Welch AE; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Amarasekera SSC; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Rius R; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, VIC 3800, Australia.; Imai-Okazaki A; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo, 113-8421, Japan.; Division of Genomic Medicine Research, Medical Genomics Center, National Center for Global Health and Medicine, Tokyo 162-8655, Japan.; Francis D; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Wang M; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Lake NJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT 06510, USA.; Tregoning S; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC 3052, Australia.; Jabbari JS; 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Publisher: Cell Press Country of Publication: United States NLM ID: 101769215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-6340 (Electronic) Linking ISSN: 26666340 NLM ISO Abbreviation: Med

Rath S; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Sharma R; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Gupta R; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Ast T; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Chan C; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Durham TJ; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Goodman RP; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Grabarek Z; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Haas ME; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Hung WHW; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Joshi PR; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Jourdain AA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Kim SH; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Kotrys AV; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Lam SS; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; McCoy JG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Meisel JD; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Miranda M; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; 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Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Shah H; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Skinner OS; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; To TL; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Walker MA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Wang H; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Ward PS; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Wengrod J; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Yuan CC; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Calvo SE; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA.; Mootha VK; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Howard Hughes Medical Institute and Departments of Molecular Biology and Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; 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Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE

Jain IH; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; Calvo SE; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; Markhard AL; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; Skinner OS; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; To TL; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; Ast T; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA.; Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA; Broad Institute, Cambridge, MA 02142, USA. Electronic address: vamsi@hms.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Ajroud-Driss S; Division of Neuromuscular Medicine, The Ken and Ruth Davee Department of Neurology and Clinical Neurosciences, Feinberg School of Medicine, Northwestern University, Chicago, IL, 60611, USA, s-ajroud@northwestern.edu.; Fecto F; Ajroud K; Lalani I; Calvo SE; Mootha VK; Deng HX; Siddique N; Tahmoush AJ; Heiman-Patterson TD; Siddique T

Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE