부산대학교 도서관

Gross, Andrea M; Plotkin, Scott R; Watts, Nelson B; Fisher, Michael J; Klesse, Laura J; Lessing, Andrés J; McManus, Miranda L; Larson, A Noelle; Oberlander, Beverly; Rios, Jonathan J; Sarnoff, Herb; Simpson, Brittany N; Ullrich, Nicole J; Stevenson, David A

Clinical Trials; Feb2024, Vol. 21 Issue 1, p29-39, 11p

Henslee SB; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Wooderchak-Donahue WL; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.; Grimmer JF; Division of Ear, Nose, & Throat, University of Utah, Salt Lake City, Utah, USA.; Szankasi P; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Bolia A; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Frigerio A; Division of Dermatology, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Flores Daboub JA; Division of Pediatric Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.; Bayrak-Toydemir P; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah, USA.; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.

Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101163587 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-8585 (Electronic) Linking ISSN: 15396851 NLM ISO Abbreviation: Lymphat Res Biol Subsets: MEDLINE

Miller JL; Department of Pediatric Endocrinology, University of Florida College of Medicine, Gainesville, FL, USA.; Bridges N; Chelsea and Westminster Hospital, London, UK.; Felner EI; Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.; Salehi P; Endocrinology, Seattle Children's Hospital, Seattle, WA, USA.; Yanovski JA; US Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Stanford University, Palo Alto, California, USA.; Mejia-Corletto J; NYU Langone Health, Mineola, NY, USA.; Shaikh MG; Royal Hospital for Children,  Glasgow Scotland, UK.; Abuzzahab J; Children's Minnesota, Minneapolis, MN, USA.; Fleischman A; Boston's Children's Hospital, Boston, MA, USA.; Kimonis V; University of California, Irvine, and Children's Hospital of Orange County, Orange, CA, USA.; Shoemaker AH; Vanderbilt University Medical Center, Nashville, TN, USA.; Holland A; Cambridgeshire & Peterborough NHS Foundation Trust, Fulbourn Hospital, Cambridge, UK.; Hull and East Yorkshire Hospitals NHS Trust, Hull, UK.; Bird LM; University of California, San Diego/Rady's Children's Hospital, San Diego, CA, USA.; Obrynba KS; Endocrinology, Nationwide Children's Hospital, Columbus, OH, USA.; Lah M; Indiana University School of Medicine, Indianapolis, IN, USA.; Littlejohn E; University of Michigan Health - Sparrow Clinical Research Institute, Lansing, MI, USA.; Harwood K; St. Joseph's University Medical Center, Paterson, NJ, USA.; Shea H; Research Institute of Dallas, Dallas, TX, USA.; Viskochil D; University of Utah, Salt Lake City, UT, USA.; Hirano P; Soleno Therapeutics, Redwood City, CA, USA.; Yen K; Soleno Therapeutics, Redwood City, CA, USA.; Ballal S; Soleno Therapeutics, Redwood City, CA, USA.; Huang M; Soleno Therapeutics, Redwood City, CA, USA.; Cowen NM; Soleno Therapeutics, Redwood City, CA, USA.; Bhatnagar A; Soleno Therapeutics, Redwood City, CA, USA.; Gevers E; Queen Mary University London, and Barts Health NHS Trust-Royal London Children's Hospital, London, UK.

Publisher: Oxford University Press Country of Publication: United States NLM ID: 0375362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-7197 (Electronic) Linking ISSN: 0021972X NLM ISO Abbreviation: J Clin Endocrinol Metab Subsets: MEDLINE

Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, California, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, California, USA.

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

Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, CA. Electronic address: anniehaus@gmail.com.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford School of Medicine, Stanford, CA.; Blitzer MG; American Board of Medical Genetics and Genomics, Rockville, MD.

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

Keehan L; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.; Sleightholm R; Division of Hematology & Oncology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.; Marks LJ; Division of Hematology & Oncology, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.; Niehaus AD; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California, USA.

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

de la Croix Ndong, Jean; Makowski, Alexander J; Uppuganti, Sasidhar; Vignaux, Guillaume; Ono, Koichiro; Perrien, Daniel S; Joubert, Simon; Baglio, Serena R; Granchi, Donatella; Stevenson, David A; Rios, Jonathan J; Nyman, Jeffry S; Elefteriou, Florent

Nature Medicine. Aug2014, Vol. 20 Issue 8, p904-910. 7p. 6 Graphs.

Vong KI; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Lee S; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Au KS; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; Crowley TB; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Capra V; Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.; Martino J; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.; Haller M; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Araújo C; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.; Machado HR; Department of Surgery and Anatomy, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto 14040-900, Brazil.; George R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Gerding B; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; James KN; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jiang N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Alu K; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Meave N; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Nidhiry AS; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jiwani F; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Tang I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Nisal A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Jhamb I; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Patel A; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; McEvoy-Venneri J; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Barrows C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Shen C; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Ha YJ; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Howarth R; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.; Strain M; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.; Ashley-Koch AE; Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC 27710, USA.; Azam M; Pediatrics and Child Neurology, Wah Medical College, Wah Cantt, Punjab 47000, Pakistan.; Mumtaz S; Department of Biological Sciences, National University of Medical Sciences (NUMS), Punjab 46000, Pakistan.; Bot GM; Neurosurgery Division, Department of Surgery, Jos University Teaching Hospital, Jos 930105, Nigeria.; Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Human Genetics, Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX 77030, USA.; Kibar Z; Department of Neurosciences, University of Montreal and CHU Sainte Justine Research Center, Montreal, QC H3T 1C5, Canada.; Marwan AI; Division of Pediatric Surgery, University of Colorado School of Medicine, Children's Hospital of Colorado, Colorado Fetal Care Center, Aurora, CO 80045, USA.; Melikishvili G; Department of Pediatrics, MediClubGeorgia Medical Center, Tbilisi 0160, Georgia.; Meltzer HS; Department of Neurosurgery, University of California San Diego, Rady Children's Hospital, San Diego, CA 92123, USA.; Mutchinick OM; Department of Genetics, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, 14080 Mexico City, Mexico.; Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, CA 94305, USA.; Mroczkowski HJ; Division of Medical Genetics, University of Tennessee Health Science Campus, Memphis, TN 38163, USA.; Ostrander B; Division of Pediatric Neurology, Primary Children's Hospital, University of Utah, Salt Lake City, UT 84113, USA.; Schindewolf E; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Moldenhauer J; Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Zackai EH; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Emanuel BS; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Garcia-Minaur S; Clinical Genetics Section, Institute of Medical and Molecular Genetics, University Hospital La Paz, 28046 Madrid, Spain.; Nowakowska BA; Department of Medical Genetics, Institute of Mother and Child, Kasprzaka, 01-211 Warsaw, Poland.; Stevenson RE; JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, SC 29646, USA.; Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo 12311, Egypt.; Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX 77030, USA.; McNamara HK; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA.; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Department of Neurology, University of Washington, Seattle, WA 98105, USA.; Phelps IG; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Deng M; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Glass IA; Departments of Pediatrics, University of Washington, Seattle, WA 98105, USA.; Morrow B; Division of Translational Genetics, Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; McDonald-McGinn DM; 22q and You Center, Division of Human Genetics, Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185-Rome RM, Italy.; Sanna-Cherchi S; Division of Nephrology, Department of Medicine, Columbia University, NY 10027, USA.; Lamb DJ; Center for Reproductive Medicine, Department of Molecular and Cellular Biology and Scott Department of Urology, Baylor College of Medicine, TX 77030, USA.; Department of Urology, Center for Reproductive Genomics, Englander Institute for Precision Medicine, Weill Cornell Medicine, New York, NY 10021, USA.; Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA 92123, USA.

Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 0404511 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-9203 (Electronic) Linking ISSN: 00368075 NLM ISO Abbreviation: Science Subsets: MEDLINE

Schildt A; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, California, USA.; Stevenson DA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Palo Alto, California, USA.; Yu L; Genetic Testing Optimization Service, Stanford Hospitals and Clinics, Palo Alto, California, USA.; Anguiano B; Genetic Testing Optimization Service, Stanford Hospitals and Clinics, Palo Alto, California, USA.; Suarez CJ; Department of Pathology, Stanford University, Palo Alto, California, USA.

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

Mínguez-Viñas T; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Prakash V; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Wang K; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Lindström SH; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Pozzi S; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Scott SA; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.; Spiteri E; Department of Pathology, Stanford University School of Medicine, Stanford, California, USA.; Stevenson DA; Division of Medical Genetics, Stanford University, Palo Alto, California, USA.; Ashley EA; Division of Medical Genetics, Stanford University, Palo Alto, California, USA.; Gunnarsson C; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Department of Clinical Genetics, Linköping University, Linköping, Sweden.; Centre for Rare Diseases in South East Region of Sweden, Linköping University, Linköping, Sweden.; Pantazis A; Division of Neurobiology, Department of Biomedical and Clinical Sciences, Linköping University, Linköping, Sweden.; Wallenberg Center for Molecular Medicine, Linköping University, Linköping, Sweden.

Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE

Wiley Z; Division of Infectious Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA.; Mahapatra S; Division of Pediatric Critical Care Medicine, Department of Pediatrics, Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Agarwal G; Division of Nephrology, Department of Internal Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.; Baer S; Division of Infectious Diseases, Department of Medicine, Augusta University, Augusta, GA, USA.; Bukhari S; Division of Cardiology. Department of Medicine, Johns Hopkins University, Baltimore, MD, USA.; Cervantes J; Dr. Kiran C. Patel College of Allopathic Medicine, Nova Southeastern University, Fort Lauderdale, FL, USA.; Correa R; Department of Endocrinology, Diabetes and Metabolism, Endocrine and Metabolism Institute, Cleveland Clinic, Cleveland, OH, USA.; Crosby S; Massachusetts College of Pharmacy and Health Sciences (MCPHS University), Boston, MA, USA.; Das S; Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.; Leon J; Department of Medicine, NYU Grossman Long Island School of Medicine, Mineola, NY, USA.; Dickinson J; Division of Pulmonary, Sleep, and Critical Care Medicine, Department of Internal Medicine, University of Nebraska Medical Center, Omaha, NE, USA.; Dutcher JP; Cancer Research Foundation of New York, NY, USA.; Fuchs S; Department of Basic Sciences, College of Osteopathic Medicine of the Pacific, Western University of Health Sciences, Pomona, CA, USA.; Hahn A; Division of Infectious Diseases, Department of Pediatrics, Children's National Hospital, George Washington University School of Medicine and Health Sciences, Washington, DC, USA.; Ioachimescu OC; Medical College of Wisconsin, Clinical and Translational Science Institute of Southeast Wisconsin, and Clement J. Zablocki Veteran Affairs Medical Center, Milwaukee, WI, USA.; Emory University School of Medicine, Atlanta, GA, USA.; Kandiah S; Division of Infectious Diseases, Department of Medicine, Emory University School of Medicine, Atlanta, GA, USA.; Kim MS; Center for Endocrinology, Diabetes, and Metabolism, Children's Hospital Los Angeles, Los Angeles, CA, USA.; Kotwal A; Division of Diabetes, Endocrinology, and Metabolism, Department of Medicine, University of Nebraska Medical Center, Omaha, NE, USA.; McCallum R; Internal Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, TX, USA.; Muzny CA; Division of Infectious Diseases, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, USA.; Sueblinvong V; Department of Medicine, Division of Pulmonary, Allergy, Critical Care, and Sleep Medicine, Emory University School of Medicine, Atlanta, GA, USA.; Salomon J; Division of Pediatric Critical Care Medicine, Department of Pediatrics, Children's Nebraska, University of Nebraska Medical Center, Omaha, NE, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, CA, USA.; Suvannasankha A; Indiana University Simon Cancer Center and Roudebush VAMC, Indianapolis, Indiana, USA.; Tague LK; Division of Pulmonary and Critical Care, Department of Medicine, Washington University, St. Louis, MO, USA.; Trandafirescu T; Pulmonary and Critical Care Medicine, Icahn School of Medicine at Mount Sinai/New York City Health + Hospitals, Queens, New York City, USA.; Wiernik PH; Cancer Research Foundation of New York, NY, USA.

Publisher: SAGE Publications Country of Publication: England NLM ID: 9501229 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1708-8267 (Electronic) Linking ISSN: 10815589 NLM ISO Abbreviation: J Investig Med Subsets: In Process; MEDLINE

Gates RW; Department of Genetics, Cook Children's Hospital, Fort Worth, Texas, USA.; Webb BD; Division of Genetics and Metabolism, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; DeFilippo C; Division of Genomic Medicine, Department of Pediatrics, UC Davis MIND Institute, Sacramento, California, USA.; Ruzhnikov MRZ; Division of Child Neurology, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.; Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.

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

Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.; Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA.; Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium.; Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada.; Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia.; Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.; Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France.; Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France.; Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA.; Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France.; Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA.; Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy.; Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France.; Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA.; Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy.; Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA.; Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA.; Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia.; Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA.; Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands.; Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.

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

Moon PK; Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.; Qian ZJ; Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.; Stevenson DA; Department of Pediatrics-Medical Genetics, Stanford University School of Medicine, California, USA.; Chang KW; Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine, Stanford, California, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817 (Electronic) Linking ISSN: 01945998 NLM ISO Abbreviation: Otolaryngol Head Neck Surg Subsets: MEDLINE

Cif L; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Demailly D; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Lin JP; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Barwick KE; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Sa M; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Abela L; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Malhotra S; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Chong WK; Developmental Imaging and Biophysics, UCL Great Ormond Street Institute of Child Health, London, UK.; Steel D; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Sanchis-Juan A; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Haematology, NHS Blood and Transplant Centre, University of Cambridge, Cambridge, UK.; Ngoh A; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Trump N; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Meyer E; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Vasques X; European IBM Systems Center, Montpellier, France.; Rankin J; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Allain MW; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Applegate CD; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Isfahani SA; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Baleine J; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Balint B; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.; Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medical College, New York, NY, USA.; Baple EL; Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Blanchet C; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Burglen L; Département de génétique médicale, APHP Hôpital Armand Trousseau, Paris, France.; Cambonie G; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Seng EC; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Bastaraud SC; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Cyprien F; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Coubes C; Département de Génétique médicale, Maladies rares et médecine personnalisée, CHU Montpellier, Montpellier, France.; d'Hardemare V; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doja A; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada.; Dorison N; Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France.; Doummar D; Neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, AP-HP, Sorbonne Université, France.; Dy-Hollins ME; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Farrelly E; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Department of Pediatrics, Lucile Packard Children's Hospital at Stanford, CA, USA.; Fitzpatrick DR; Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.; Fearon C; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; Fieg EL; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Fogel BL; Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Forman EB; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; Fox RG; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Gahl WA; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Galosi S; Department of Human Neuroscience, Sapienza University of Rome, Rome, Italy.; Gonzalez V; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Graves TD; Department of Neurology, Hinchingbrooke Hospital, North West Anglia NHS Foundation Trust, Huntingdon, UK.; Gregory A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Hallett M; Human Motor Control Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Hasegawa H; Complex Motor Disorder Service, Children's Neurosciences Department, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.; Children's Neuromodulation Group, Women and Children's Health Institute, Faculty of life Sciences and Medicine (FOLSM), King's Health Partners, London, UK.; Hayflick SJ; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Department of Paediatrics, Oregon Health and Science University, Portland, OR, USA.; Hamosh A; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Hully M; Département de Neurologie, APHP-Necker-Enfants Malades, Paris, France.; Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Jeong SY; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Krier JB; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Krystal S; Département de Neuroradiologie, Hôpital Fondation Rothschild, Paris.; Kumar KR; Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, NSW, Australia.; Molecular Medicine Laboratory, Concord Hospital, Sydney, NSW, Australia.; Laurencin C; Département de Neurologie, Hôpital Neurologique Pierre Wertheimer, Lyon, France.; Lee H; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Lesca G; Département de Génétique, Hôpital Universitaire de Lyon, Lyon, France.; François LL; Département de Pédiatrie, Hôpital Lyon-Sud, Pierre-Bénite, France.; Lynch T; Department of Neurology, The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mahant N; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Milesi C; Unité de Soins Intensifs et Réanimation Pédiatrique et Néonatale, Hôpital Universitaire de Montpellier, Montpellier, France.; Mills KA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Mondain M; Département d'Oto-Rhino-Laryngologie et Chirurgie Cervico-Faciale, Hôpital Universitaire de Montpellier, Montpellier, France.; Morales-Briceno H; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Ostergaard JR; Centre for Rare Diseases, Aarhus University Hospital, Aarhus, Denmark.; Pal S; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; Pallais JC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Pavillard F; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Perrigault PF; Département d'Anesthésie-Réanimation Gui de Chauliac, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.; Petersen AK; Randall Children's Hospital, Portland, OR, USA.; Polo G; Département de Neurochirurgie Fonctionnelle, Hôpital Neurologique et Neurochirurgical, Pierre Wertheimer, Lyon, France.; Poulen G; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Rinne T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Roujeau T; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Rogers C; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Roubertie A; Département de Neuropédiatrie, Hôpital Universitaire de Montpellier, Montpellier, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France.; Sahagian M; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Schaefer E; Medical Genetics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Selim L; Cairo University Children Hospital, Pediatric Neurology and Metabolic division, Cairo, Egypt.; Selway R; Department of Neurosurgery, King's College Hospital, London, UK.; Sharma N; Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Signer R; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Soldatos AG; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA, USA.; Stewart F; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Tchan M; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; Department of Genetics, Westmead Hospital, Westmead, NSW, Australia.; Verma IC; Institute of Genetics and Genomics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.; de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Wilson JL; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health and Science University, Portland, OR, USA.; Wong DA; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Zaitoun R; Department of Paediatrics, Neurology Division, Ain Shams University Hospital, Cairo, Egypt.; Zhen D; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Znaczko A; Department of Genetic Medicine, Belfast Health and Social Care Trust, Belfast, UK.; Dale RC; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; de Gusmão CM; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Friedman J; Division of Neurology, Rady Children's Hospital San Diego, CA, USA.; Department of Neuroscience, University of California San Diego, CA, USA.; Departments of Paediatrics, University of California, San Diego, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Fung VSC; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Westmead, NSW, Australia.; Sydney Medical School, University of Sydney, Sydney, NSW, Australia.; King MD; Department of Paediatric Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.; UCD School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Mohammad SS; Department of Paediatric Neurology, The Children's Hospital at Westmead, NSW, Australia.; Faculty of Medicine and Health, Sydney Medical School, University of Sydney, Sydney NSW, Australia.; Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, TX, USA.; Department of Pediatrics, Long School of Medicine, UT Health, San Antonio, TX, USA.; Waugh JL; Division of Pediatric Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.; Toro C; Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Raymond FL; NIHR BioResource, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.; Topf M; Institute of Structural and Molecular Biology, Department of Biological Sciences, Birkbeck College, University of London, London, UK.; Coubes P; Département de Neurochirurgie, Unité des Pathologies Cérébrales Résistantes, Unité de Recherche sur les Comportements et Mouvements Anormaux, Hôpital Gui de Chauliac, Centre Hospitalier Régional Montpellier, Montpellier, France.; Faculté demédecine, Université de Montpellier, France.; Gorman KM; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.; Kurian MA; Molecular Neurosciences, Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK.

Country of Publication: United States NLM ID: 101759493 Publication Model: Electronic Cited Medium: Internet ISSN: 2331-8422 (Electronic) Linking ISSN: 23318422 NLM ISO Abbreviation: ArXiv Subsets: PubMed not MEDLINE

Biesecker, Leslie G; Adam, Margaret P; Alkuraya, Fowzan S; Amemiya, Anne R; Bamshad, Michael J; Beck, Anita E; Bennett, James T; Bird, Lynne M; Carey, John C; Chung, Brian; Clark, Robin D; Cox, Timothy C; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B; Giampietro, Philip F; Girisha, Katta M; Glass, Ian A; Graham, John M; Gripp, Karen W; Haldeman-Englert, Chad R; Hall, Bryan D; Innes, A Micheil; Kalish, Jennifer M; Keppler-Noreuil, Kim M; Kosaki, Kenjiro; Kozel, Beth A; Mirzaa, Ghayda M; Mulvihill, John J; Nowaczyk, Malgorzata JM; Pagon, Roberta A; Retterer, Kyle; Rope, Alan F; Sanchez-Lara, Pedro A; Seaver, Laurie H; Shieh, Joseph T; Slavotinek, Anne M; Sobering, Andrew K; Stevens, Cathy A; Stevenson, David A; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C; Weaver, David D; Williams, Marc S; Zackai, Elaine; Zarate, Yuri A

American Journal of Human Genetics, vol 108, iss 1

Johnson, Emily M; Ishak, Alexandra D; Naylor, Paige E; Stevenson, David A; Reiss, Allan L; Green, Tamar

Cerebral Cortex; Jul2019, Vol. 29 Issue 7, p2915-2923, 9p

Stevenson DA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.; Viscogliosi G; Center for Rare Diseases and Birth Defect, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Leoni C; Center for Rare Diseases and Birth Defect, Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

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

Kumar, Akash; Zastrow, Diane B; Kravets, Elijah J; Beleford, Daniah; Ruzhnikov, Maura RZ; Grove, Megan E; Dries, Annika M; Kohler, Jennefer N; Waggott, Daryl M; Yang, Yaping; Huang, Yong; Network, Undiagnosed Diseases; Mackenzie, Katherine M; Eng, Christine M; Fisher, Paul G; Ashley, Euan A; Teng, Joyce M; Stevenson, David A; Shieh, Joseph T; Wheeler, Matthew T; Bernstein, Jonathan A

American Journal of Medical Genetics Part A, vol 179, iss 6

de Blank PMK; Department of Pediatrics, University of Cincinnati and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Gross AM; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Akshintala S; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Blakeley JO; Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA.; Bollag G; Plexxikon Inc., Berkeley, California, USA.; Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA.; Dombi E; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Fangusaro J; Children's Hospital of Atlanta, Emory University and the Aflac Cancer Center, Atlanta, Georgia, USA.; Gelb BD; Department of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Hargrave D; Department of Oncology, Great Ormond Street Hospital for Children, London, UK.; Kim A; Center for Neuroscience and Behavioral Medicine and Center for Cancer and Blood Disorders, Children's National Hospital, Washington, DC, USA.; Klesse LJ; Department of Pediatrics, Division of Hematology/Oncology, UT Southwestern Medical Center, Dallas, Texas, USA.; Loh M; Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA.; Martin S; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Moertel C; Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota, USA.; Packer R; Center for Neuroscience and Behavioral Medicine and Center for Cancer and Blood Disorders, Children's National Hospital, Washington, DC, USA.; Payne JM; Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, Victoria, Australia.; Rauen KA; Department of Pediatrics, University of California Davis, Sacramento, California, USA.; Rios JJ; Center for Pediatric Bone Biology and Translational Research, Scottish Rite for Children, Dallas, Texas, USA.; Robison N; Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Los Angeles, California, USA.; Schorry EK; Department of Pediatrics, University of Cincinnati and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Shannon K; Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA.; Stevenson DA; Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California, USA.; Stieglitz E; Benioff Children's Hospital, University of California San Francisco, San Francisco, California, USA.; Ullrich NJ; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.; Walsh KS; Center for Neuroscience and Behavioral Medicine and Center for Cancer and Blood Disorders, Children's National Hospital, Washington, DC, USA.; Weiss BD; Department of Pediatrics, University of Cincinnati and Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.; Wolters PL; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Yohay K; Department of Neurology and Pediatrics, New York University Grossman School of Medicine, New York, New York, USA.; Yohe ME; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Widemann BC; Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.; Fisher MJ; Division of Oncology, The Children's Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 100887420 Publication Model: Print Cited Medium: Internet ISSN: 1523-5866 (Electronic) Linking ISSN: 15228517 NLM ISO Abbreviation: Neuro Oncol Subsets: MEDLINE