부산대학교 도서관

Rigter PMF; de Konink C; Dunn MJ; Proietti Onori M; Humberson JB; Thomas M; Barnes C; Prada CE; Weaver KN; Ryan TD; Caluseriu O; Conway J; Calamaro E; Fong CT; Wuyts W; Meuwissen M; Hordijk E; Jonkers CN; Anderson L; Yuseinova B; Polonia S; Beysen D; Stark Z; Savva E; Poulton C; McKenzie F; Bhoj E; Bupp CP; Bézieau S; Mercier S; Blevins A; Wentzensen IM; Xia F; Rosenfeld JA; Hsieh TC; Krawitz PM; Elbracht M; Veenma DCM; Schulman H; Stratton MM; Küry S; van Woerden GM

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: In Process; MEDLINE

McKnight D; Invitae, San Francisco, California.; Morales A; Invitae, San Francisco, California.; Hatchell KE; Invitae, San Francisco, California.; Bristow SL; Invitae, San Francisco, California.; Bonkowsky JL; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Center for Personalized Medicine, Primary Children's Hospital, Salt Lake City, Utah.; Perry MS; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas.; Berg AT; Department of Neurology, Northwestern University-Feinberg School of Medicine, Chicago, Illinois.; COMBINEDBrain, Brentwood, Tennessee.; Borlot F; Section of Neurology, Department of Internal Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Esplin ED; Invitae, San Francisco, California.; Moretz C; Invitae, San Francisco, California.; Angione K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Ríos-Pohl L; Clinical Integral de Epilepsia, Facultad de Medicina, Universidad Finis Terrae, Santiago, Chile.; Nussbaum RL; Invitae, San Francisco, California.; Aradhya S; Invitae, San Francisco, California.; Haldeman-Englert CR; Mission Fullerton Genetics Center, Asheville, North Carolina.; Levy RJ; Division of Medical Genetics, Lucile Packard Children's Hospital at Stanford University, Stanford, California.; Division of Child Neurology, Lucile Packard Children's Hospital at Stanford University, Stanford, California.; Parachuri VG; Kaiser Permanente, Portland, Oregon.; Lay-Son G; Genetic Unit, Pediatrics Division, Faculty of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.; de Montellano DJD; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico.; Ramirez-Garcia MA; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico.; Benítez Alonso EO; Genetics Department, National Institute of Neurology and Neurosurgery, 'Manuel Velasco Suárez,' Mexico City, Mexico.; Ziobro J; Department of Pediatrics, University of Michigan, Ann Arbor.; Chirita-Emandi A; Genetic Discipline, Center of Genomic Medicine, University of Medicine and Pharmacy 'Victor Babes' Timisoara, Timis, Romania.; Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children 'Louis Turcanu' Timisoara, Timis, Romania.; Felix TM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Kulasa-Luke D; NeuroDevelopmental Science Center, Akron Children's Hospital, Akron, Ohio.; Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jerome Lejeune, Paris, France.; Karkare S; Cohen Children's Medical Center, Queens, New York.; Chagnon SL; Children's Hospital of the King's Daughters, Norfolk, Virginia.; Humberson JB; University of Virginia Pediatric Genetics and Metabolism, Charlottesville, Virginia.; Assaf MJ; Banner Children's Neurology-Thunderbird, Glendale, Arizona.; Silva S; Child Neurology Service, Hospital de Puerto Montt, Puerto Montt, Chile.; Zarroli K; University of Florida-Jacksonville, Jacksonville.; Boyarchuk O; I.Horbachevsky Ternopil National Medical University, Ternopil, Ukraine.; Nelson GR; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Hammond KC; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham.; Hwang ST; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.; Boutlier SB; ECU Physician Internal Medicine Pediatric Neurology, Greenville, North Carolina.; Nolan M; Starship Child Health, Auckland, New Zealand.; Batley KY; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas.; Chavda D; SUNY Downstate Health Sciences University, Brooklyn, New York.; Reyes-Silva CA; Facultad de Ciencias de la Salud, Universidad de los Hemisferios, Quito, Ecuador.; Miroshnikov O; Institute of Pediatrics, Obstetrics and Gynecology, Kyiv, Ukraine.; Zuccarelli B; University of Kansas School of Medicine-Salina, Salina.; Amlie-Wolf L; Nemours Children's Hospital, Wilmington, Delaware.; Wheless JW; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee.; Seinfeld S; Joe DiMaggio Children's Hospital, Hollywood, Florida.; Kanhangad M; Department of Paediatrics, Monash University, Clayton, Australia.; Freeman JL; The Royal Children's Hospital Melbourne, Melbourne, Australia.; Monroy-Santoyo S; Instituto Nacional de Pediatria/Centro Medico ABC, Mexico City, Mexico.; Rodriguez-Vazquez N; University of Puerto Rico, Medical Sciences Campus, San Juan, Puerto Rico.; Ryan MM; The Royal Children's Hospital Melbourne, Melbourne, Australia.; Murdoch Children's Research Institute, Melbourne, Australia.; University of Melbourne, Melbourne, Australia.; Machie M; Department of Pediatrics and Neurology, UT Southwestern, Dallas, Texas.; Guerra P; Universidad San Sebastián, Department of Pediatrics, Medicine School, Patagonia Campus, Puerto Montt, Chile.; Hassan MJ; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, Pakistan.; Candee MS; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Bupp CP; Spectrum Health, West Michigan Helen DeVos Children's Hospital, Grand Rapids, Michigan.; Park KL; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Muller E 2nd; Clinical Genetics, Stanford Children's Health Specialty Services, San Francisco, California.; Lupo P; Division of Neurology, Department of Pediatrics, University of Texas Medical Branch, League City.; Pedersen RC; Hawaii Permanente Medical Group, Honolulu.; Arain AM; Division of Epilepsy, Department of Neurology, University of Utah School of Medicine, Salt Lake City.; Murphy A; Mary Bird Perkins Cancer Center, Baton Rouge, Louisiana.; Schatz K; Johns Hopkins University, Baltimore, Maryland.; Mu W; Johns Hopkins University, Baltimore, Maryland.; Kalika PM; University of Miami, Miami, Florida.; Plaza L; Hospital Materno Perinatal 'Mónica Pretelini Sáenz,' Toluca, México.; Kellogg MA; Oregon Health & Science University, Portland.; Lora EG; Dominican Neurological and Neurosurgical Society, Santo Domingo, Dominican Republic.; Carson RP; Vanderbilt University Medical Center, Nashville, Tennessee.; Svystilnyk V; Shupyk National Healthcare University of Ukraine, Kyiv, Ukraine.; Venegas V; Clínica Alemana de Santiago, Universidad del Desarrollo, Pediatric Neurology Unit, Santiago, Chile.; Luke RR; Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, Texas.; Jiang H; Nationwide Children's Hospital, Toledo, Ohio.; Stetsenko T; Brain Stimulation Center, Kyiv, Ukraine.; Dueñas-Roque MM; Hospital Nacional Edgardo Rebagliati Martins-EsSalud, Lima, Perú.; Trasmonte J; Atrium Health Navicent, Macon, Georgia.; Burke RJ; Division of Medical Genetics, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.; Division of Neonatology, Department of Pediatrics, West Virginia University School of Medicine, Morgantown.; Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham.; Smith DM; Minnesota Epilepsy Group, St Paul.; Massingham LJ; Hasbro Children's Hospital, Providence, Rhode Island.; Alpert Medical School, Brown University, Providence, Rhode Island.; Pisani L; Zucker School of Medicine, Hofstra Northwell, Hempstead, New York.; Northwell Health, Medical Genetics, Great Neck, New York.; Costin CE; Genetic Center, Akron Children's Hospital, Akron, Ohio.; Ostrander B; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Filloux FM; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Ananth AL; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham.; Mohamed IS; Department of Pediatric Neurology, University of Alabama at Birmingham, Birmingham.; Nechai A; Neurology Department, Kiev City Children Clinical Hospital No. 1, Kyiv City, Ukraine.; Dao JM; Adult and Child Neurology Medical Associates, Long Beach, California.; Miller Children's Hospital, Long Beach, California.; Fahey MC; Department of Paediatrics, Monash University, Clayton, Australia.; Aliu E; Department of Genetics, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.; Falchek S; Nemours Children's Hospital, Wilmington, Delaware.; Thomas Jefferson University, Philadelphia, Pennsylvania.; Press CA; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Treat L; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Eschbach K; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Starks A; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Kammeyer R; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Bear JJ; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Jacobson M; Children's Hospital Colorado, Aurora.; Department of Pediatrics, University of Colorado School of Medicine, Aurora.; Department of Neurology, University of Colorado School of Medicine, Aurora.; Chernuha V; Pediatric Neurology Institute, 'Dana-Dwek' Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Meibos B; University of Utah, Salt Lake City.; Wong K; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Sweney MT; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Espinoza AC; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Van Orman CB; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Weinstock A; Division of Child Neurology, Department of Neurology, University at Buffalo, Buffalo, New York.; Oishei Children's Hospital, Buffalo, New York.; Kumar A; Department of Pediatrics and Neurology, Penn State Health Milton S. Hershey Medical Center, Hershey, Pennsylvania.; Soler-Alfonso C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Nolan DA; Pediatric Epilepsy, Beaumont Children's, Royal Oak, Michigan.; Raza M; Nishtar Medical University, Multan, Punjab, Pakistan.; Rojas Carrion MD; Alejandro Mann Hospital Complex, Guayaquil, Ecuador.; Chari G; SUNY Downstate Health Sciences University, Brooklyn, New York.; Kings County Hospital Center, Brooklyn, New York.; Marsh ED; Division of Child Neurology, Departments of Neurology and Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; University of Pennsylvania Perelman School of Medicine, Philadelphia.; Shiloh-Malawsky Y; University of North Carolina at Chapel Hill, Chapel Hill.; Parikh S; Neurogenetics, Cleveland Clinic, Cleveland, Ohio.; Gonzalez-Giraldo E; University of California-San Francisco, San Francisco.; Fulton S; Pediatric Neurology, University of Tennessee Health Science Center, Memphis.; Le Bonheur Comprehensive Epilepsy Program & Neuroscience Institute, Le Bonheur Children's Hospital, Memphis, Tennessee.; Sogawa Y; UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania.; Burns K; Sanford Health, Sioux Falls, South Dakota.; Malets M; Uzhhorod National University, Uzhhorod, Ukraine.; Montiel Blanco JD; National Institute of Child Health, Lima, Perú.; Habela CW; Johns Hopkins University, Baltimore, Maryland.; Wilson CA; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City.; Guzmán GG; Servicio Neuropsiquiatria Infantil, Hospital San Borja Arriarán, Santiago, Chile.; Pavliuk M; Volyn Regional Hospital, Lutsk, Ukraine.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Rigter PMF; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; de Konink C; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Dunn MJ; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.; Proietti Onori M; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Humberson JB; Pediatric Specialty Care, University of Virginia Health, Charlottesville, VA 22903, USA.; Thomas M; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA.; Barnes C; Division of Genetics, Department of Pediatrics, University of Virginia Children's, Charlottesville, VA 22903, USA.; Prada CE; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA; Division of Genetics, Genomics, and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA; Fundacion Cardiovascular de Colombia, Bucaramanga, Colombia.; Weaver KN; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Ryan TD; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45267, USA; Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Stollery Children's Hospital, Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2B7, Canada.; Conway J; Stollery Children's Hospital, Department of Pediatrics, Division of Pediatric Cardiology, University of Alberta, Edmonton, AB T6G 2B7, Canada.; Calamaro E; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.; Fong CT; Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA.; Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium.; Meuwissen M; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, 2650 Edegem, Belgium.; Hordijk E; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Jonkers CN; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Anderson L; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Yuseinova B; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Polonia S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands.; Beysen D; Department of Paediatric Neurology, University Hospital of Antwerp, 2650 Edegem, Belgium; Department of Translational Neurosciences, University of Antwerp, 2650 Edegem, Belgium.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Australian Genomics, Melbourne, VIC 3052, Australia.; Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.; Poulton C; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia.; McKenzie F; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, WA 6008, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA 6009, Australia.; Bhoj E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Bupp CP; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA.; Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.; Blevins A; GeneDx, Gaithersburg, MD 20877, USA.; Wentzensen IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Xia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.; Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.; Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, 53127 Bonn, Germany.; Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, 52074 Aachen, Germany.; Veenma DCM; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Sophia Children's Hospital, Erasmus Medical Center, Rotterdam 3015 CN, the Netherlands.; Schulman H; Department of Neurobiology, Stanford University, School of Medicine, Stanford, CA 94305, USA; Panorama Research Institute, Sunnyvale, CA 94089, USA.; Stratton MM; Department of Biochemistry and Molecular Biology, University of Massachusetts, Amherst, MA 01003, USA.; Küry S; Corewell Health & Helen DeVos Children's Hospital, Grand Rapids, MI 49503, USA; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.; van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; ENCORE Expertise Centre for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands; Department of Neuroscience, Erasmus Medical Center, Rotterdam 3015 GD, the Netherlands. Electronic address: g.vanwoerden@erasmusmc.nl.

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

Jacobs EZ; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Brown K; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.; Byler MC; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.; D'haenens E; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Dheedene A; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Henderson LB; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia, USA.; van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Kanani F; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.; Lebel RR; Division of Development, Behavior and Genetics, SUNY Upstate Medical University, New York, New York, USA.; Millan F; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.; Oostra A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium.; Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.; Rhodes L; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Saenz M; University of Colorado, Section of Genetics, Department of Pediatrics, The Children's Hospital Colorado, Aurora, Colorado, USA.; Seaver LH; Medical Genetics and Genomics, Spectrum Health Helen Devos Children's Hospital, Grand Rapids, Michigan, USA.; Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, Michigan, USA.; Si Y; GeneDx, Inc. Laboratory, Gaithersburg, Maryland, USA.; Vanlander A; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Department of Neuropediatrics, Ghent University Hospital, Ghent, Belgium.; Vergult S; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.; Callewaert B; Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium.; Department for Biomolecular Medicine, Ghent University, Ghent, Belgium.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Lin AE; Genetics Unit, Massachusetts General Hospital, MassGeneral Hospital for Children, Harvard Medical School, Boston, Massachusetts. lin.angela@mgh.harvard.edu.; Michot C; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.; Cormier-Daire V; INSERM UMR1163 Unit, Department of Genetics, Institut Imagine, Paris Descartes University-Sorbonne Paris Cité, Necker Enfants-Malades Hospital, Paris, France.; L'Ecuyer TJ; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Matherne GP; Division of Cardiology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Barnes BH; Division of Gastroenterology, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, Virginia.; Edmondson AC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; O'Connor MJ; Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Kaplan JD; Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Ebeid MR; Division of Cardiology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.; Krier J; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Krieg E; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Ghoshhajra B; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Department of Radiology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Lindsay ME; Thoracic Aortic Center, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Pediatric Cardiology, Department of Pediatrics, MassGeneral Hospital for Children, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.; Cardiovascular Research Center, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.

Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

Singh S; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Gupta A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Zech M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.; Dincer Y; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; Zentrum für Humangenetik und Laboratoriumsdiagnostik (MVZ), Martinsried, Germany.; Wagner M; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Humberson JB; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Green S; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; van Gassen K; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Brandt T; GeneDx, Gaithersburg, MD, USA.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Millan F; GeneDx, Gaithersburg, MD, USA.; Si Y; GeneDx, Gaithersburg, MD, USA.; Mall V; Lehrstuhl für Sozialpädiatrie, Technische Universität München, Munich, Germany.; kbo-Kinderzentrum München, Munich, Germany.; Winkelmann J; Institut für Neurogenomik, Helmholtz Zentrum München, Munich, Germany.; Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Gavrilova RH; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.; Department of Neurology, Mayo Clinic, Rochester, MN, USA.; Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences Research, Mayo Clinic, Rochester, MN, USA.; Departments of Clinical Genomics and Neurology, Mayo Clinic, Rochester, MN, USA.; Engleman K; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA.; Safina NP; Division of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas city, MO, USA.; Slaugh R; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Bryant EM; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA.; Tan WH; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Granadillo J; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.; Misra SN; Ann & Robert H. Lurie Children's Hospital, Epilepsy Center, Chicago, IL, USA.; Schaefer GB; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, USA.; Towner S; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Brilstra EH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands.; Koeleman BPC; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands. b.p.c.koeleman@umcutrecht.nl.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Cogné B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Ehresmann S; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.; Beauregard-Lacroix E; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.; Rousseau J; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.; Besnard T; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Garcia T; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada.; Petrovski S; Department of Medicine, University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, VIC 3010, Australia; AstraZeneca Centre for Genomics Research, Precision Medicine and Genomics, IMED Biotech Unit, AstraZeneca, Cambridge CB2 0AA, UK.; Avni S; Visual Geometry Group, Department of Engineering Science, University of Oxford, Oxford OX1 3PJ, UK.; McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.; Sanders SJ; Department of Psychiatry, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.; Uguen K; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.; Harris J; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Cohen JS; Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD 21205, USA; Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Blyth M; Department of Clinical Genetics, Chapel Allerton Hospital, Yorkshire Regional Genetics Service, Leeds Teaching Hospitals National Health Service Trust, Chapeltown Road, Leeds LS7 4SA, UK.; Lehman A; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Berg J; Molecular and Clinical Medicine, School of Medicine, University of Dundee, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK.; Li MH; Rush University Medical Center, Department of Pediatrics, Division of Genetics, Chicago, IL 60612, USA.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Trust, Oxford OX3 7LE, UK.; Joss S; West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.; von der Lippe C; Department of Medical Genetics, St. Olav's Hospital, Trondheim University Hospital, 7006 Trondheim, Norway.; Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.; Humberson JB; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA.; Robak L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.; Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.; Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Johnston JJ; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.; Poduri A; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Nordenskjöld M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Gerkes EH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, 9700 RB, the Netherlands.; Bongers EMHF; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Gilissen C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.; Kvarnung M; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Lally KP; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Kulch PA; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Daniels B; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.; Hernandez-Garcia A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Stong N; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.; McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland 4029, Australia; School of Medicine, The University of Queensland, Brisbane, Queensland 4029, Australia.; Retterer K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Sullivan J; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.; Geisheker MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolecent Medicine, Oslo University Hospital, Rikshospitalet, Pb 4950 Nydalen, N-0424 Oslo, Norway.; Tarpinian JM; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Klee EW; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.; Sapp JC; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.; Zyskind J; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Filippini F; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.; Guimier A; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.; Picard A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Chirurgie Maxillofaciale et Plastique, Centre de référence des Malformations de la Face et de la Cavité Buccale, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.; Busk ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway.; Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Lindstrand A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Nordgren A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, 17176 Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.; Kalb F; Division of Genetics, Birth Defects, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA.; Desai M; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Ebanks AH; Department of Pediatric Surgery, The McGovern Medical School at the University of Texas Health Science Center and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.; Dewan T; Department of Pediatrics, University of British Columbia, Vancouver, BC V6H 3N1, Canada.; Coban Akdemir ZH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Telegrafi A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Toutain A; Service de Génétique, Centre Hospitalier Universitaire de Tours, 2 Boulevard Tonnellé, 37044 Tours, France; Inserm U1253, Ibrain, Université de Tours, 37032 Tours, France.; Wentzensen IM; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.; Odent S; Service de Génétique Clinique, Centre Référence Déficiences Intellectuelles de Causes Rares, Centre de Référence Anomalies du Développement, Centre Labellisé pour les Anomalies du Développement (CLAD) Ouest, Centre Hospitalier Universitaire de Rennes, 35203 Rennes, France; Institut de Génétique et Développement de Rennes, UMR 6290, Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France.; Bonneau D; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France.; Latypova X; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Deb W; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Redon S; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.; Bilan F; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.; Legendre M; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.; Troyer C; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA 22903, USA.; Whitlock K; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada.; Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.; Park M; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA.; Shain C; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Heinzen EL; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.; Xiao R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; Amiel J; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.; Lyonnet S; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (Inserm), UMR 1163, Institut Imagine, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France; Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (APHP), 75015 Paris, France.; Isidor B; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4472, USA.; Lowenstein D; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA.; Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Denommé-Pichon AS; Centre Hospitalier Universitaire de Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; Mitochondrial and Cardiovascular Pathophysiology (MITOVASC), Unité mixte de Recherche, Centre National de la Recherche Scientifique 6015, Inserm 1083, Université d'Angers, 49933 Angers, France.; Férec C; UMR 1078, Génétique, Génomique Fonctionnelle et Biotechnologies, Inserm, L'Etablissement Français du Sang, Institut Brestois Santé Agro Matière, Université de Brest Occidentale, 29200 Brest, France; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.; Yang XJ; Rosalind & Morris Goodman Cancer Research Center and Department of Medicine, McGill University, Montreal, QC H3A 1A3, Canada; Department of Biochemistry, McGill University and McGill University Health Center, Montreal, QC H3A 1A3, Canada.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Gilbert-Dussardier B; Centre Hospitalier Universitaire de Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; Equipe d'accueil 3808, Université Poitiers, Poitiers 86034, France.; Audebert-Bellanger S; Service de Génétique médicale et de biologie de la reproduction, Centre Hospitalier Regional Universitaire Brest, 29200 Brest, France.; Redon R; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE 68178, USA.; Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Oxford, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7FZ, UK.; Yang Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.; 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; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.; Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY 10032, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA.; Bolduc F; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada; Division of Pediatric Neurology, University of Alberta, Edmonton, AB, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Bézieau S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France.; Küry S; Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes, France; INSERM, CNRS, UNIV Nantes, l'institut du thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.; Campeau PM; Centre Hospitalier Universitaire Sainte-Justine Research Centre, University of Montreal, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T1J4, Canada. Electronic address: p.campeau@umontreal.ca.

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

O'Keefe S; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA. siobhanokeefe2@gmail.com.; Wefuan DT; Vidant Duplin Hospital, 401 N Main St, Suite C-9, Kenansville, NC, 28349, USA.; Humberson JB; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.; Schmidt K; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.; Wiley J; Department of Pediatrics, Brody School of Medicine, East Carolina University, 3E-139 Brody Medical Sciences Building, Greenville, NC, 27834, USA.

Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE