Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Savatt JM"'
Autor:
Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Thaxton CL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Nelson T; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., DiStefano MT; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Savatt JM; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Brush MH; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Cheung G; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Mandell ME; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Ward TJ; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Goehringer S; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., O'Neill T; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Weller P; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Preston CG; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Keseler IM; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Strande NT; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., McGlaughon J; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Azzariti DR; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Cordova I; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Dziadzio H; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Riehle K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Martin CL; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Plon SE; Department of Pediatrics, Division of Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA; email: courtney_thaxton@med.unc.edu., Riggs ER; Geisinger, Danville, Pennsylvania, USA; email: thnelson@geisinger.edu., Klein TE; Departments of Medicine (Biomedical Informatics Research) and Genetics, Stanford University School of Medicine, Stanford, California, USA.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, California, USA; email: wrightmw@stanford.edu, teri.klein@stanford.edu.
Publikováno v:
Annual review of biomedical data science [Annu Rev Biomed Data Sci] 2024 Aug; Vol. 7 (1), pp. 31-50. Date of Electronic Publication: 2024 Jul 24.
Autor:
Karayol R; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Borroto MC; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Haghshenas S; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Namasivayam A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Reilly J; Department of Pediatrics, Clinical Neurological Sciences and Epidemiology, Western University, London, ON N6A 3K7, Canada., Levy MA; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Relator R; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Shvedunova M; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany., Petersen AK; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Magnussen K; Department of Genetics and Metabolism, Randall Children's and Legacy Emanuel Hospitals, Portland, OR 97227, USA., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland., Vasileiou G; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Mulligan MR; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Bicknell LS; Department of Biochemistry, University of Otago, Dunedin, New Zealand., Poke G; Genetic Health Service New Zealand, Wellington, New Zealand., Abu-El-Haija A; Division of Genetics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA., Duis J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Hannig V; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, USA., Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Barkoudah E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Hauser NS; Medical Genetics, Inova Fairfax Hospital, Falls Church, VA 22042, USA., van den Born M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, the Netherlands., Hamiel U; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., Henig N; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv 6423906, Israel., Baris Feldman H; Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center & Faculty of Medicine, Tel Aviv University, Tel Aviv 6423906, Israel., McKee S; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Krapels IPC; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Lei Y; Center for Precision Environmental Health, Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, TX, USA., Todorova A; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Yordanova R; Department of pediatrics 'Prof. Ivan Andreev', Medical university - Plovdiv, Plovdiv, Bulgaria; Department of Pediatrics, University Hospital 'St. George', Plovdiv, Bulgaria., Atemin S; Genetic Medico-Diagnostic Laboratory 'Genica', Sofia, Bulgaria., Rogac M; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., McConnell V; Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast Health & Social Care Trust, Belfast BT9 7AB, UK., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA., Barañano KW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University School of Medicine, Durham, NC 27710, USA., Peron A; SOC Genetica Medica, Meyer Children's Hospital IRCCS, Florence, Italy; Department of Biomedical, Experimental and Clinical Sciences 'Mario Serio', Università degli Studi di Firenze, Florence, Italy., Iascone M; Department of Medical Genetics, ASST Papa Giovanni XXIII, Bergamo, Italy., Canevini MP; Epilepsy Center - Sleep Medicine Center, Childhood and Adolescence Neuropsychiatry Unit, ASST Santi Paolo e Carlo, San Paolo Hospital, Milan, Italy; Department of Health Sciences, University of Milan, Milan, Italy., Friedman J; Departments of Neurosciences and Pediatrics, University of California, San Diego, La Jolla, CA, USA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Reyes IA; Rady Children's Institute for Genomic Medicine and Rady Children's Hospital, San Diego, CA, USA., Kierstein J; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, MIND Institute, UC Davis, Sacramento, CA 95817, USA., Ahmed FN; Division of Genomic Medicine, Department of Pediatrics, UC Davis, Sacramento, CA 95817, USA., Mao X; National Health Commission Key Laboratory of Birth Defects Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Hunan, China; Nanhua University, Chiayi County, Taiwan., Almoguera B; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Blanco-Kelly F; Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), Madrid, Spain., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, German., Treu AB; Epilepsy Center Kleinwachau, Radeberg, Germany., Quilichini J; Service de Médecine Génomique des maladies de système et d'organe, APHP, Centre Université Paris Cité, Paris, France., Bourgois A; Normandy University, UNICAEN, Caen University Hospital, Department of Genetics, UR 7450 BioTARGen, FHU G4 Genomics, Caen, France., Chatron N; Department of Genetics, Lyon University Hospital, Lyon, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Januel L; Department of Genetics, Lyon University Hospital, Lyon, France., Rougeot C; Department of Neuropediatrics, Lyon University Hospital, Lyon, France., Carere DA; GeneDx, Gaithersburg, MD 20877, USA., Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA., Rousseau J; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada., Myers KA; Child Health and Human Development, Research Institute of the McGill University Health Centre, Montreal, QC, Canada., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada. Electronic address: bekim.sadikovic@lhsc.on.ca., Akhtar A; Max-Planck Institute of Immunobiology and Epigenetics, Freiburg, Germany. Electronic address: akhtar@ie-freiburg.mpg.de., Campeau PM; Centre de recherche Azrieli du CHU Sainte-Justine, Montreal, QC H3T 1C5, Canada; Department of Pediatrics, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1330-1351. Date of Electronic Publication: 2024 May 29.
Autor:
Baldridge D; Department of Pediatrics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA. dbaldri@wustl.edu., Kaster L; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Sancimino C; Department of Pediatrics, Albert Einstein College of Medicine, Bronx, NY, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Molholm S; Departments of Pediatrics and Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA., Gupta A; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Oh I; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Lanzotti V; Department of Psychiatry, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Grewal D; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Riggs ER; Autism and Developmental Medicine Institute, Geisinger, Danville, PA, USA., Savatt JM; Department of Genomic Health, Geisinger, Danville, PA, USA., Hauck R; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Sveden A; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Constantino JN; Division of Behavioral and Mental Health, Departments of Psychiatry and Pediatrics, Children's Healthcare of Atlanta, Emory University, Atlanta, GA, USA., Piven J; The Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA., Gurnett CA; Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Chopra M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, USA., Hazlett H; The Carolina Institute for Developmental Disabilities, University of North Carolina, Chapel Hill, NC, USA., Payne PRO; Institute for Informatics, Data Science and Biostatistics, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
Publikováno v:
Journal of neurodevelopmental disorders [J Neurodev Disord] 2024 Apr 17; Vol. 16 (1), pp. 17. Date of Electronic Publication: 2024 Apr 17.
Autor:
Cordova I; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Blesson A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA., Savatt JM; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Sveden A; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Mahida S; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Hazlett H; Department of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC 27510, USA., Rooney Riggs E; Autism and Developmental Medicine Institute, Geisinger, Danville, PA 17822, USA., Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.
Publikováno v:
Genes [Genes (Basel)] 2024 Mar 28; Vol. 15 (4). Date of Electronic Publication: 2024 Mar 28.
Autor:
Chopra M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital; Boston, MA; Department of Neurology, Boston Children's Hospital Intellectual Disability and Research Center; Harvard Medical School; Boston, MA. Electronic address: maya.chopra@children.harvard.edu., Savatt JM; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Bingaman TI; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Good ME; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Morgan A; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Cooney C; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Rossel AM; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., VanHoute B; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Cordova I; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Mahida S; Department of Neurology, Boston Children's Hospital Intellectual Disability and Research Center; Harvard Medical School; Boston, MA., Lanzotti V; Washington University School of Medicine Intellectual and Developmental Disability Research Center, St. Louis, MO., Baldridge D; Washington University School of Medicine Intellectual and Developmental Disability Research Center, St. Louis, MO., Gurnett CA; Washington University School of Medicine Intellectual and Developmental Disability Research Center, St. Louis, MO., Piven J; Department of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC., Hazlett H; Department of Psychiatry, University of North Carolina Intellectual and Developmental Disability Research Center, Chapel Hill, NC., Pomeroy SL; Department of Neurology, Boston Children's Hospital Intellectual Disability and Research Center; Harvard Medical School; Boston, MA., Sahin M; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital; Boston, MA; Department of Neurology, Boston Children's Hospital Intellectual Disability and Research Center; Harvard Medical School; Boston, MA., Payne PRO; Institute for Informatics Washington University in St. Louis, St. Louis, MO., Riggs ER; Autism and Developmental Medicine Institute, Geisinger, Danville, PA., Constantino JN; Division of Behavioural and Mental Health, Children's Healthcare of Atlanta, Departments of Psychiatry and Paediatrics, Emory University, Atlanta, GA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Mar; Vol. 26 (3), pp. 101035. Date of Electronic Publication: 2023 Dec 04.
Autor:
Schwiter R; Department of Genomic Health, Geisinger, Danville, PA. Electronic address: rgschwiter1@geisinger.edu., Rocha H; Department of Genomic Health, Geisinger, Danville, PA., Johns A; Department of Population Health Sciences, Geisinger, Danville, PA., Savatt JM; Department of Genomic Health, Geisinger, Danville, PA., Diehl DL; Department of Medicine, Division of Gastroenterology and Hepatology, Geisinger, Danville, PA., Kelly MA; Department of Genomic Health, Geisinger, Danville, PA., Williams MS; Department of Genomic Health, Geisinger, Danville, PA., Buchanan AH; Department of Genomic Health, Geisinger, Danville, PA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Dec; Vol. 25 (12), pp. 100949. Date of Electronic Publication: 2023 Aug 02.
Autor:
Savatt JM; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Johns A; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania., Schwartz MLB; Ted Rogers Centre for Heart Research, Cardiac Genome Clinic, The Hospital for Sick Children, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., McDonald WS; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania., Salvati ZM; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Oritz NM; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Masnick M; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Hatchell K; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Hao J; Department of Genomic Health, Geisinger, Danville, Pennsylvania.; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania., Buchanan AH; Department of Genomic Health, Geisinger, Danville, Pennsylvania., Williams MS; Department of Genomic Health, Geisinger, Danville, Pennsylvania.
Publikováno v:
JAMA network open [JAMA Netw Open] 2023 Oct 02; Vol. 6 (10), pp. e2338995. Date of Electronic Publication: 2023 Oct 02.
Autor:
Pichardo PFA; Department of Otolaryngology-Head and Neck Surgery, Geisinger Medical Center, Danville, Pennsylvania., Hellums RN; Department of Otolaryngology-Head and Neck Surgery, Geisinger Medical Center, Danville, Pennsylvania., Hao J; Department of Population Health Sciences, Geisinger Medical Center, Danville, Pennsylvania.; Genomic Medicine Institute, Geisinger Medical Center, Danville, Pennsylvania., Savatt JM; Genomic Medicine Institute, Geisinger Medical Center, Danville, Pennsylvania., Hassen D; Department of Population Health Sciences, Geisinger Medical Center, Danville, Pennsylvania., Pellitteri PK; Department of Otolaryngology-Head and Neck Surgery, Geisinger Medical Center, Danville, Pennsylvania., Alvi M; Department of Endocrinology, Geisinger Medical Center, Danville, Pennsylvania., Buchanan AH; Genomic Medicine Institute, Geisinger Medical Center, Danville, Pennsylvania., Purdy NC; Department of Otolaryngology-Head and Neck Surgery, Geisinger Medical Center, Danville, Pennsylvania.
Publikováno v:
JAMA otolaryngology-- head & neck surgery [JAMA Otolaryngol Head Neck Surg] 2023 Mar 01; Vol. 149 (3), pp. 195-202.
Autor:
Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Department of Genomic Health, Geisinger, Danville, PA. Electronic address: jmsavatt@geisinger.edu., Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Finucane BM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 161-163. Date of Electronic Publication: 2022 Nov 17.
Consolidation of the clinical and genetic definition of a SOX4- related neurodevelopmental syndrome.
Autor:
Angelozzi M; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Karvande A; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Molin AN; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Ritter AL; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Douglass K; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Danville, Pennsylvania, USA., Grippa M; U.O. Genetica Medica, Universita di Bologna, Bologna, Italy., Tolchin D; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA., Zackai E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donoghue S; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hurst ACE; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Descartes M; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Smith K; Department of Genetics, The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Velasco D; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Schmanski A; Department of Pediatrics, University of Nebraska Medical Center, Omaha, Nebraska, USA., Crunk A; GeneDx Inc, Gaithersburg, Maryland, USA., Tokita MJ; GeneDx Inc, Gaithersburg, Maryland, USA., de Lange IM; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., van Gassen K; Department of Medical Genetics, University Medical Centre Utrecht Brain Centre, Utrecht, The Netherlands., Robinson H; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Guegan K; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Suri M; Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK., Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Bournez M; Centres de référence Anomalies du Développement et Syndrome Malformatifs, Centre Hospitalier Universitaire de Dijon, Dijon, France., Faivre L; Centre de Génétique, Centre Hospitalier Universitaire de Dijon Hôpital d'Enfants, Dijon, France., Tran-Mau-Them F; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France.; Functional Unit 6254 Innovation in Genomic Diagnosis of Rare Diseases, CHU Dijon Bourgogne, Dijon, France., Baker J; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Fabie N; Genomics and Genetic Medicine, Children's Minnesota, Minneapolis, Minnesota, USA., Weaver K; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Shillington A; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Hopkin RJ; Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Barge-Schaapveld DQCM; Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Ruivenkamp CA; Laboratory for Diagnostic Genome Analyses, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bökenkamp R; Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands., Vergano S; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Seco Moro MN; Clinical Analysis Department, Hospital Universitario de Móstoles, Mostoles, Spain., Díaz de Bustamante A; Department of Genetics, Hospital Universitario de Móstoles, Mostoles, Spain., Misra VK; Department of Pediatrics, Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Discipline of Pediatrics, Central Michigan University, Mount Pleasant, Michigan, USA., Kennelly K; Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA., Rogers C; Department of Molecular and Medical Genetics, Oregon Health & Science University School of Medicine, Portland, Oregon, USA., Friedman J; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA., Wigby KM; Department of Pediatrics, University of California San Diego, San Diego, California, USA.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Lenberg J; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Graziano C; Department of Pediatrics, University of California San Diego, San Diego, California, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.; Division of Genetics/Dysmorphology and Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA.; Department of Neurosciences, University of California San Diego, San Diego, California, USA.; Division of Neurology, Rady Children's Hospital, San Diego, California, USA.; U.O. Genetica Medica, AUSL della Romagna Rimini, Cesena, Italy., Ahrens-Nicklas RC; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu., Lefebvre V; Surgery/Division of Orthopaedic Surgery, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, USA claudio.graziano2@auslromagna.it AhrensNicklasR@chop.edu lefebvrev1@chop.edu.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Nov; Vol. 59 (11), pp. 1058-1068. Date of Electronic Publication: 2022 Mar 01.