부산대학교 도서관

Sure A; The Chobanian and Avedisian School of Medicine.; Chaaya C; Department of Ophthalmology, Massachusetts Eye and Ear.; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Pandiri S; Department of Ophthalmology, Massachusetts Eye and Ear.; University of Missouri Kansas City School of Medicine, Kansas City, Missouri and.; Meshkin RS; Department of Ophthalmology, Massachusetts Eye and Ear.; Altamirano F; Zhou HW; Department of Ophthalmology, Massachusetts Eye and Ear.; Parikh AA; Department of Ophthalmology, Massachusetts Eye and Ear.; High FA; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.; Krishnamoorthy KS; Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.; Gonzalez E; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Fulton A; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.; Patel NA; Department of Ophthalmology, Massachusetts Eye and Ear.; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.

Publisher: Healio.com Country of Publication: United States NLM ID: 101599215 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2325-8179 (Electronic) Linking ISSN: 23258160 NLM ISO Abbreviation: Ophthalmic Surg Lasers Imaging Retina Subsets: MEDLINE

Hutchins, Anne S ; Mullen, Alan C ; Lee, Hubert W ; Sykes, Kara J ; High, Frances A ; Hendrich, Brian D ; Bird, Adrian P ; Reiner, Steven L

In Molecular Cell 2002 10(1):81-91

Hernandez-Diaz S; Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA.; Quinn M; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Conant S; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Lyons A; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Paik H; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Ward J; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Bui E; University of Toronto, Ontario, Canada.; Hauser WA; College of Physicians and Surgeons and Mailman School of Public Health, Columbia University, New York, NY.; Yerby M; Oregon Health and Science University, Portland.; Voinescu PE; Brigham and Women's Hospital, Boston, MA.; Hirtz DG; University of Vermont, Burlington; and.; High FA; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.; Pediatric-Genetics Department, Massachusetts General Hospital, Boston.; Holmes LB; North American Antiepileptic Drug Pregnancy Registry, Mass General for Children, Boston, MA.

Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 0401060 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1526-632X (Electronic) Linking ISSN: 00283878 NLM ISO Abbreviation: Neurology Subsets: MEDLINE

Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo 12622, Egypt.; Ferla M; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Tortora D; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Saadi SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Abdullah U; University Institute of Biochemistry and Biotechnology, PMAS Arid Agriculture University, 46300 Rawalpindi, Pakistan.; Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran.; Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Yeşil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Al Shamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE.; Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, 12622 Cairo, Egypt.; Saadi NW; College of Medicine, University of Baghdad, 10071 Baghdad, Iraq.; Children Welfare Teaching Hospital, 10071 Baghdad, Iraq.; Al Mutairi F; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Alabdi L; Department of Zoology, College of Science, King Saud University, 11421 Riyadh, Saudi Arabia.; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 12713 Riyadh, Saudi Arabia.; Beetz C; Centogene GmbH, 18055 Rostock, Germany.; Ali Z; Department of Cellular and Molecular Medicine, WJC PANUM, University of Copenhagen, DK-1165 Copenhagen, Denmark.; Centre for Biotechnology and Microbiology, University of Swat, Swat 19120, Pakistan.; Toosi MB; Pediatric Neurology Department Pediatric Ward Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, 00014 Helsinki, Finland.; Department of Child Neurology, Children's Hospital, Paediatric Research Center, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland.; Muhammad J; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Centre for Regenerative Medicine and Stem Cell Research, Juma Building, Aga Khan University, Karachi 74800, Pakistan.; Khan S; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Al Shalan M; Genetics and Precision Medicine department, King Abdullah Specialized Children's Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, 22384 Riyadh, Saudi Arabia.; Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH 43205, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH 43210, USA.; Marom D; Genetics Institute and Genomic Center, Tel Aviv Sourasky Medical Center, and Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel.; Elhanan E; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat 13110, Kuwait.; Saberi A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Hamid M; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Spaull R; Nephro-Genetic Clinic, Nephrology Department and Genetics Institute, Tel Aviv Medical Center, Tel Aviv 64239, Israel.; Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London WC1N 1EH, UK.; Meng L; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Lalani S; Department of Neurology, Great Ormond Street Hospital, London WC1N 1EH, UK.; Maqbool S; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Rahman F; Developmental-Behavioural Paediatrics Department, University of Child Health Sciences & The Children's Hospital, 54000 Lahore, Pakistan.; Seeger J; Center for Social Pediatrics and Epilepsy Outpatient Clinic Frankfurt Mitte, 60316 Frankfurt am Main, Germany.; Palculict TB; GeneDx, Gaithersburg, MD 20877, USA.; Lau T; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Mencacci NE; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Switzerland.; Akbas S; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Aslanger AD; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34093 Istanbul, Turkey.; Salpietro V; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Department of Biotechnological and Applied Clinical Sciences (DISCAB), University of L'Aquila, 67100 L'Aquila, Italy.; Yousaf H; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Ben-Shachar S; Clalit Research Institute, Clalit Health Services, 6578898 Ramat Gan, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ejeskär K; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, SE-541 28 Skovde, Sweden.; Al Aqeel AI; Department of Pediatrics, Prince Sultan Military Medical City, 12233 Riyadh, Saudi Arabia.; American University of Beirut, 1107 2020 Beirut, Lebanon.; Alfaisal University, 11533 Riyadh, Saudi Arabia.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Harvard Medical School, Boston, MA 02115, USA.; Armstrong-Javors AE; Harvard Medical School, Boston, MA 02115, USA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Zahraei SM; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Seifi T; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Zeighami J; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Sedaghat A; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz, Iran.; Diabetes Research center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Asl SN; Department of Pediatrics Endocrinology, Mashhad University of Medical Sciences, Mashhad, Iran.; Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, 3000 Leuven, Belgium.; Zifarelli G; Centogene GmbH, 18055 Rostock, Germany.; Burglen L; Cerebellar Malformations and Congenital diseases Reference Center and Neurogenetics Lab, Department of Genetics, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, 75015 Paris, France.; Ravelli C; Pediatric Neurology Department, Movement Disorders Center, Armand Trousseau Hospital, AP-HP Sorbonne Université, 75006 Paris, France.; Zschocke J; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Schatz UA; Institute of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität Munich, 81675 Munich, Germany.; Ghavideldarestani M; Hull York Medical School, Hull HU6 7RX, UK.; Kamel WA; Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.; Department of Neurology, Faculty of Medicine, Beni-Suef University, 62521 Beni Suef, Egypt.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium.; Laboratory for the Genetics of Cognition, Department of Human Genetics, KU Leuven-University of Leuven, 3000 Leuven, Belgium.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, 8032 Zürich, Switzerland.; Taylor JC; Wellcome Centre for Human Genetics, University of Oxford and Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN UK.; Al-Gazali L; Departments of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, UAE.; Bauer P; Centogene GmbH, 18055 Rostock, Germany.; Gleeson JJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Texas Children's Hospital, Houston, TX 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; Ati Mehr Kasra Genetics Institute, Kianpars, Ahvaz, Iran.; Azizimalamiri R; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Chung WK; Boston Children's Hospital and Harvard Medical School Boston, MA 02115, USA.; Baig SM; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS, 44000 Faisalabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, 74800 Karachi, Pakistan.; Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.

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

Dutta, Debdeep; Briere, Lauren C; Kanca, Oguz; Marcogliese, Paul C; Walker, Melissa A; High, Frances A; Vanderver, Adeline; Krier, Joel; Carmichael, Nikkola; Callahan, Christine; Taft, Ryan J; Simons, Cas; Helman, Guy; Network, Undiagnosed Diseases; Wangler, Michael F; Yamamoto, Shinya; Sweetser, David A; Bellen, Hugo J

Human Molecular Genetics; 5/1/2020, Vol. 29 Issue 9, p1568-1579, 12p

Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.; Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; High FA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0374636 Publication Model: Print Cited Medium: Internet ISSN: 1943-2631 (Electronic) Linking ISSN: 00166731 NLM ISO Abbreviation: Genetics Subsets: MEDLINE

Sacoto, Maria J Guillen; Tchasovnikarova, Iva A; Torti, Erin; Forster, Cara; Andrew, E Hallie; Anselm, Irina; Baranano, Kristin W; Briere, Lauren C; Cohen, Julie S; Craigen, William J; Cytrynbaum, Cheryl; Ekhilevitch, Nina; Elrick, Matthew J; Fatemi, Ali; Fraser, Jamie L; Gallagher, Renata C; Guerin, Andrea; Haynes, Devon; High, Frances A; Inglese, Cara N; Kiss, Courtney; Koenig, Mary Kay; Krier, Joel; Lindstrom, Kristin; Marble, Michael; Meddaugh, Hannah; Moran, Ellen S; Morel, Chantal F; Mu, Weiyi; Muller, Eric A; Nance, Jessica; Natowicz, Marvin R; Numis, Adam L; Ostrem, Bridget; Pappas, John; Stafstrom, Carl E; Streff, Haley; Sweetser, David A; Szybowska, Marta; Network, Undiagnosed Diseases; Walker, Melissa A; Wang, Wei; Weiss, Karin; Weksberg, Rosanna; Wheeler, Patricia G; Yoon, Grace; Kingston, Robert E; Juusola, Jane

American Journal of Human Genetics, vol 107, iss 2

Wagner R; Division of Newborn Medicine and.; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.; Amonkar GM; Division of Newborn Medicine and.; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Wang W; Division of Newborn Medicine and.; Shui JE; Division of Newborn Medicine and.; Bankoti K; Division of Newborn Medicine and.; Tse WH; Departments of Surgery, Pediatrics & Child Health, Physiology & Pathophysiology, University of Manitoba and Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; High FA; Division of Medical Genetics, Department of Pediatrics, and.; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Surgery and.; Zalieckas JM; Division of Pediatric Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; and.; Buchmiller TL; Division of Pediatric Surgery, Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts; and.; Zani A; Department of Pediatric Surgery, University of Toronto, Hospital for Sick Children, Toronto, Ontario, Canada.; Keijzer R; Departments of Surgery, Pediatrics & Child Health, Physiology & Pathophysiology, University of Manitoba and Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.; Donahoe PK; Pediatric Surgical Research Laboratories, Department of Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Lerou PH; Division of Newborn Medicine and.; Ai X; Division of Newborn Medicine and.

Publisher: American Thoracic Society Country of Publication: United States NLM ID: 9421642 Publication Model: Print Cited Medium: Internet ISSN: 1535-4970 (Electronic) Linking ISSN: 1073449X NLM ISO Abbreviation: Am J Respir Crit Care Med Subsets: MEDLINE

Jangam, Sharayu V; Briere, Lauren C; Jay, Kristy L; Andrews, Jonathan C; Walker, Melissa A; Rodan, Lance H; High, Frances A; Undiagnosed Diseases Network; Yamamoto, Shinya; Sweetser, David A; Wangler, Michael F

medRxiv

Qiao L; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.; Welch CL; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Hernan R; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Krishnan US; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Zalieckas JM; Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Anesthesiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Buchmiller T; Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Khlevner J; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; De A; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Farkouh-Karoleski C; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Wagner AJ; Children's Hospital of Wisconsin, Medical College of Wisconsin, Milwaukee, WI 53226, USA.; Heydweiller A; Department of General, Visceral, Vascular, and Thoracic Surgery, Unit of Pediatric Surgery, University Hospital Bonn, Bonn, Germany.; Mueller AC; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.; de Klein A; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Warner BW; Washington University School of Medicine, St. Louis, MO 63110, USA.; Maj C; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.; Chung D; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.; McCulley DJ; Department of Pediatrics, San Diego Medical School, University of California, San Diego, San Diego, CA 92092, USA.; Schindel D; Medical City Children's Hospital, Dallas, TX 75230, USA.; Potoka D; University of Pittsburgh, Pittsburgh, PA 15224, USA.; Fialkowski E; Oregon Health and Science University, Portland, OR 97239, USA.; Schulz F; Department of Hematology, Oncology and Clinical Immunology, University Hospital Düsseldorf, Düsseldorf, Germany.; Kipfmuller F; Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, Bonn, Germany.; Lim FY; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Magielsen F; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Mychaliska GB; University of Michigan Health System, Ann Arbor, MI 48109, USA.; Aspelund G; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.; Reutter HM; Neonatology and Pediatric Intensive Care, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany.; Needelman H; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.; Schnater JM; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Fisher JC; New York University Grossman School of Medicine, Hassenfeld Children's Hospital at NYU Langone, New York, NY 10016, USA.; Azarow K; Oregon Health and Science University, Portland, OR 97239, USA.; Elfiky M; Cairo University, Cairo 11432, Egypt.; Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Danko ME; Monroe Carell Jr. Children's Hospital at Vanderbilt, Nashville, TN 37232, USA.; Li M; Rush University Medical Center, Chicago, IL 60612, USA.; Kosiński P; Department of Obstetrics, Perinatology and Gynecology, Medical University of Warsaw, 02-091 Warsaw, Poland.; Wijnen RMH; Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Cusick RA; University of Nebraska Medical Center College of Medicine, Omaha, NE 68114, USA.; Soffer SZ; Northwell Health, New York, NY 11040, USA.; Cochius-Den Otter SCM; Department of Neonatology and Pediatric Intensive Care, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Schaible T; Department of Neonatology, University Children's Hospital Mannheim, University of Heidelberg, Mannheim, Germany.; Crombleholme T; Medical City Children's Hospital, Dallas, TX 75230, USA.; Duron VP; Department of Surgery (Pediatrics), Columbia University Irving Medical Center, New York, NY 10032, USA.; Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02115, USA.; Sun X; Department of Pediatrics, San Diego Medical School, University of California, San Diego, San Diego, CA 92092, USA.; High FA; Department of Surgery, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA.; Bendixen C; Department of General, Visceral, Vascular, and Thoracic Surgery, Unit of Pediatric Surgery, University Hospital Bonn, Bonn, Germany.; Brosens E; Department of Clinical Genetics, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands.; Shen Y; Department of Systems Biology, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Biomedical Informatics, Columbia University Irving Medical Center, New York, NY 10032, USA; JP Sulzberger Columbia Genome Center, Columbia University Irving Medical Center, New York, NY 10032, USA. Electronic address: ys2411@cumc.columbia.edu.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: wendy.chung@childrens.harvard.edu.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Ganapathi M; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Friocourt G; Univ Brest, Inserm, EFS, UMR1078, France.; Gueguen N; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Le Gac G; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Okur V; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Loaëc N; Univ Brest, Inserm, EFS, UMR1078, France.; Ludwig T; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Ka C; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Tanji K; Department of Pathology & Cell Biology, Columbia University Irving Medical Center, New York, New York, USA.; Marcorelles P; CHRU de Brest, Service d'anatomie cytologie pathologie, CHU et centre de référence des maladies neuromusculaires, Brest, France.; Theodorou E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Lignelli-Dipple A; Department of Radiology, Columbia University Irving Medical Center, New York, New York, USA.; Voisset C; Univ Brest, Inserm, EFS, UMR1078, France.; Walker MA; Division of Neurogenetics, Child Neurology, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Bourhis A; CHRU de Brest, Service d'anatomie cytologie pathologie, CHU et centre de référence des maladies neuromusculaires, Brest, France.; Blondel M; Univ Brest, Inserm, EFS, UMR1078, France.; LeDuc C; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Hagen J; Department of Biomedical Sciences, Columbia University Irving Medical Center, New York, New York, USA.; Cooper C; Department of Radiology, Columbia University Irving Medical Center, New York, New York, USA.; Muraresku C; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ferec C; Univ Brest, Inserm, EFS, UMR1078, France.; Garenne A; CHRU de Brest, Service de Pédiatrie, France.; Lelez-Soquet S; CHRU de Brest, Service de Radiologie, France.; Rogers CA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Shen Y; Department of Biomedical Sciences, Columbia University Irving Medical Center, New York, New York, USA.; Strode DK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Bizargity P; Division of Medical Genetics, Cohen Children's Medical Center, New York, New York, USA.; Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, New York, New York, USA.; Iglesias A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Goldstein A; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; High FA; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Network UD; A complete list of the Undiagnosed Diseases Network members appears in the Supplemental Materials.; Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Division of Medical Genetics & Metabolism, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts, USA.; Ganetzky R; Department of Pediatrics, Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado, Aurora, Colorado, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, USA.; Procaccio V; MitoLab, UMR CNRS 6015 - INSERM U1083, MitoVasc Institute, Angers University Hospital, Angers, France.; Le Marechal C; Univ Brest, Inserm, EFS, UMR1078, France.; CHRU de Brest, Service de Génétique Médicale et Biologie de la Reproduction, Laboratoire de Génétique Moléculaire et Histocompatibilité, France.; Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York, USA.; Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Nagy D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.; Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular BioMedicine, Medical University of Graz, 8010 Graz, Austria.; Wigby KM; Department of Pediatrics, University of California, San Diego, CA 92161, USA.; Rady Children's Hospital-San Diego, Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Borovikov A; Research Centre for Medical Genetics, 115478 Moscow, Russia.; Sharkov A; Veltischev Research and Clinical Institute for Pediatrics, Pirogov Russian National Research Medical University, 125412 Moscow, Russia.; Slegesky V; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Larson A; Department of Pediatrics, Section of Clinical Genetics and Metabolism, Children's Hospital Colorado, University of Colorado School of Medicine, Aurora, CO 80045, USA.; Fagerberg C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark.; Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.; Institute of Clinical Research, Faculty of Health Sciences, University of Southern Denmark, 5000 Odense, Denmark.; Kibæk M; H C Andersen Children's Hospital, Odense University Hospital, 5000 Odense, Denmark.; Bader I; Institute of Human Genetics, University Hospital, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, A-5020 Salzburg, Austria.; Hernan R; Department of Pediatrics, Columbia University, Irving Medical Center, New York, NY 10032, USA.; High FA; Division of Genetics, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA.; Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY 10032, USA.; Schieving JH; Department of Pediatric Neurology, Radboud University Hospital Nijmegen, 6525 Nijmegen, The Netherlands.; Behunova J; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.; Smogavec M; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.; Laccone F; Institute of Medical Genetics, Medical University of Vienna, 1090 Vienna, Austria.; Witsch-Baumgartner M; Division of Human Genetics, Medical University Innsbruck, 6020 Innsbruck, Austria.; Zobel J; Department of Pediatrics, Division of General Pediatrics, Medical University of Graz, 8036 Graz, Austria.; Duba HC; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.; Weis D; Institute of Medical Genetics, Kepler University Hospital Med Campus IV, Johannes Kepler University Linz, A-4020 Linz, Austria.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Briere LC; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts 02114, USA.; High FA; Department of Pediatrics, Division of Medical Genetics and Metabolism, Massachusetts 02114, USA.; Cooper C; Department of Internal Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Rogers CA; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.; Callahan CJ; Department of Medicine, Brigham and Women's Hospital, Boston, Massachusetts 02115, USA.; Ishimura R; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Ichimura Y; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Caruso PA; Department of Radiology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Brokamp E; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Koziura ME; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Mohammad SS; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.; Dale RC; Kids Neuroscience Center & Children's Hospital at Westmead Clinical School, The University of Sydney, Sydney, New South Wales 2006, Australia.; Riley LG; Rare Diseases Functional Genomics, Kids Research, The Children's Hospital at Westmead and Children's Medical Research Institute, Westmead, New South Wales 2145, Australia.; Discipline of Child & Adolescent Health, University of Sydney, Sydney, New South Wales 2006, Australia.; Phillips JA; Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232, USA.; Komatsu M; Department of Biochemistry, Niigata University School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.; Department of Physiology, Juntendo University School of Medicine, Tokyo 113-8421, Japan.; Sweetser DA; Department of Pediatrics, Division of Medical Genetics and Metabolism, and Center for Genomic Medicine, Massachusetts 02114, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101660017 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2373-2873 (Electronic) Linking ISSN: 23732873 NLM ISO Abbreviation: Cold Spring Harb Mol Case Stud Subsets: MEDLINE

Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX.; Isohanni P; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Shao Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Graham BH; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN.; Hickey SE; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Brooks S; Department of Pediatrics, Ohio State University College of Medicine, Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Suomalainen A; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Joset P; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren-Zürich, Switzerland.; Hackenberg A; Department of Pediatric Neurology, University Children's Hospital Zürich, University of Zürich, Zürich, Switzerland.; High FA; Division of Medical Genetics, Massachusetts General Hospital, Boston, MA.; Harvard Medical School, Boston, MA.; Armstrong-Javors A; Harvard Medical School, Boston, MA.; Department of Pediatric Neurology, Massachusetts General Hospital, Boston, MA.; Mencacci NE; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Gonzàlez-Latapi P; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Kamel WA; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.; Department of Neurology, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt.; Al-Hashel JY; Department of Neurology, Ibn Sina Hospital, Kuwait City, Kuwait.; Department of Medicine, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.; Bustos BI; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Hernandez AV; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Krainc D; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Lubbe SJ; Ken and Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Simpson Querrey Center for Neurogenetics, Feinberg School of Medicine, Northwestern University, Chicago, IL.; Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; De Luca C; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Ballon K; Centre for Developmental Disabilities, University Hospitals Leuven, Leuven, Belgium.; Ravelli C; Pediatric Neurology Department, Neurogenetics Reference Center, I-motion Institute, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Burglen L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Developmental Brain Disorders Laboratory, Imagine Institute, Paris, France.; Qebibo L; Cerebellar Malformations and Congenital Diseases Reference Center and Neurogenetics Lab, Department of Genetics, Public Hospital Network of Paris, Sorbonne University, Armand Trousseau Hospital, Paris, France.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait.; Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Saadi NW; College of Medicine, Baghdad University, Baghdad, Iraq.; Children Welfare Teaching Hospital, Baghdad, Iraq.; Sahin Y; Department of Medical Genetics, Genoks Genetic Center, Ankara, Turkey.; Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, London, UK.; Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and Children Hospital, Lahore, Pakistan.; Rahman F; Development and Behavioral Pediatrics Department, Institute of Child Health and Children Hospital, Lahore, Pakistan.; Gu S; School of Biomedical Sciences, Chinese University of Hong Kong, Shatin, Hong Kong SAR.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Pediatrics, Baylor College of Medicine, Houston, TX.; Texas Children's Hospital, Houston, TX.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX.; Hunter JV; Edward B. Singleton Department of Pediatric Radiology, Texas Children's Hospital, Houston, TX.; Department of Radiology, Baylor College of Medicine, Houston, TX.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Jan and Dan Neurological Research Institute, Texas Children's Hospital, Houston, TX.; Carroll CJ; Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Molecular and Clinical Sciences Research Institute, St George's, University of London, London, United Kingdom.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics, Houston, TX.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Mueller AA; Department of Medicine.; Sasaki T; Department of Medicine.; Keegan JW; Department of Surgery, and.; Nguyen JP; Department of Surgery, and.; Griffith A; Department of Surgery, and.; Horisberger AM; Department of Medicine.; Licata T; Department of Medicine.; Fieg E; Department of Medicine.; Cao Y; Department of Medicine.; Elahee M; Department of Medicine.; Marks KE; Department of Medicine.; Simmons DP; Department of Medicine.; Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts, USA.; Briere LC; Center for Genomic Medicine.; Cobban LA; Department of Medicine.; Pallais JC; Department of Medicine.; High FA; Department of Pediatrics, and.; Walker MA; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Linnoila JJ; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.; Sparks JA; Department of Medicine.; Holers VM; Department of Medicine, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA.; Costenbader KH; Department of Medicine.; Sweetser DA; Center for Genomic Medicine.; Department of Pediatrics, and.; Krier JB; Department of Medicine.; Loscalzo J; Department of Medicine.; Lederer JA; Department of Surgery, and.; Rao DA; Department of Medicine.

Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Meng, Linyan; Isohanni, Pirjo; Shao, Yunru; Graham, Brett H; Hickey, Scott E; Brooks, Stephanie; Suomalainen, Anu; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Hackenberg, Annette; High, Frances A; Armstrong-Javors, Amy; Mencacci, Niccolò E; Gonzàlez-Latapi, Paulina; Kamel, Walaa A; Al-Hashel, Jasem Y; Bustos, Bernabé I; Hernandez, Alejandro V; Krainc, Dimitri; Lubbe, Steven J; Van Esch, Hilde; De Luca, Chiara; Ballon, Katleen; Ravelli, Claudia; Burglen, Lydie; Qebibo, Leila; Calame, Daniel G; Mitani, Tadahiro; Marafi, Dana; et al

Petit F; Clinique de Génétique, CHU de Lille, Lille, France; EA7364 RADEME, Université de Lille, Lille, France.; Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; Wells J; The Jackson Laboratory, Bar Harbor, ME, USA.; Maser RS; The Jackson Laboratory, Bar Harbor, ME, USA.; Bogenschutz EL; The Jackson Laboratory, Bar Harbor, ME, USA.; Dysart MJ; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Contreras HTM; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA.; Frénois F; EA7364 RADEME, Université de Lille, Lille, France.; Pober BR; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA.; Giampietro PF; University of Illinois-Chicago, Chicago, IL, USA.; Ropers HH; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Hu H; Max Planck Institute for Molecular Genetics, Berlin, Germany.; Loscertales M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; Wagner R; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatric Surgery, University Hospital Leipzig, Leipzig, Germany.; Ai X; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA.; Brand H; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Jourdain AS; EA7364 RADEME, Université de Lille, Lille, France.; Delrue MA; Service de Génétique, CHU de Bordeaux, Bordeaux, France.; Gilbert-Dussardier B; Service de Génétique, CHU de Poitiers, Université de Poitiers, EA3808, Poitiers, France.; Devisme L; Institut de Pathologie, CHU de Lille, Lille, France.; Keren B; Département de Génétique, Hôpital Pitié Salpétrière, CHU de Paris, Paris, France.; McCulley DJ; Department of Pediatrics, University of California, San Diego, San Diego, CA, USA.; Qiao L; Department of Pediatrics, Columbia University, New York, NY, USA.; Hernan R; Department of Pediatrics, Columbia University, New York, NY, USA.; Wynn J; Department of Pediatrics, Columbia University, New York, NY, USA.; Scott TM; Department of Microbiology and Molecular Biology, College of Life Sciences, Brigham Young University, Provo, UT, USA.; Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.; Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, the University of Texas Health Science Center at Houston, Houston, TX, USA.; Hernandez P; IDDRC/TCC, Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Yonath H; Internal Medicine A and Genetics Institute, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.; Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Shen Y; Department of Systems Biology, Columbia University, New York, NY, USA.; Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX, USA.; Bult CJ; The Jackson Laboratory, Bar Harbor, ME, USA.; Donahoe PK; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA.; High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Harvard Medical School, Boston, MA, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA, USA; Department of Surgery, Boston Children's Hospital, Boston, MA, USA. Electronic address: fhigh@mgb.org.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

High, Frances A; Bhayani, Pooja; Wilson, Jay M; Bult, Carol J; Donahoe, Patricia K; Longoni, Mauro

American Journal of Medical Genetics Part A. 170:2457-2461

Lin AE; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts.; Santoro S; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts.; High FA; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts.; Goldenberg P; Medical Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts.; Gutmark-Little I; Division of Pediatric Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.; Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Theodorou E; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Briere LC; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Rosello M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Department of Epidemiology and Prevention, IRCCS NEUROMED, Pozzilli, Italy.; Tammaro R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Al-Badri N; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA.; Shi J; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.; Putti E; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Ferrante L; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Cetrangolo V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA, USA.; Tenconi R; Clinical Genetics Unit, Department of Women and Children's Health, University of Padova, Padova, Italy.; Iascone M; Medical Genetics, ASST Papa Giovanni XXIII, 24127 Bergamo, Italy.; Mei D; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy.; Guerrini R; Meyer Children's Hospital IRCCS, Neuroscience Department, Florence, Italy.; van der Smagt J; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Kroes HY; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.; Bilal M; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.; Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center & King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Pingault V; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Attie-Bitach T; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Amiel J; Service de Médecine Génomique des Maladies Rares, et Institut Imagine, Hôpital Necker-Enfants Malades, Paris, France.; Ejaz R; Division of Genetics, Department of Pediatrics, McMaster Children's Hospital, Hamilton, ON, Canada.; Rodan L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA.; Zollino M; Institute of Medical Genetics, A. Gemelli School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.; Agrawal PB; Divisions of Newborn Medicine, Boston Children's Hospital, Boston, MA, USA; Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Sweetser DA; Center for Genomic Medicine, Divisions of Pediatric Hematology/Oncology and Medical Genetics and Metabolism, Department of Pediatrics, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: dsweetser@mgh.harvard.edu.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy; Medical Genetics, Department of Translational Medicine, University of Naples 'Federico II,' Via Sergio Pansini, 80131 Naples, Italy.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE