부산대학교 도서관

Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM

American journal of human genetics. 104(3):530-541

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

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

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

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

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

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