Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.

Autor: Li D; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Wang Q; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bayat A; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department for Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark.; Department of Drug Design and Pharmacology, University of Copenhagen, Copenhagen, Denmark., Battig MR; Center for Applied Genomics, and., Zhou Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bosch DG; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., van Haaften G; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Granger L; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Petersen AK; Department of Genetics and Metabolism, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, Oregon, USA., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain.; Genetic Service, Hospital del Mar Research Institute (IMIM), Barcelona, Spain.; Universitat Pompeu Fabra, Barcelona, Spain., Aznar-Laín G; Universitat Pompeu Fabra, Barcelona, Spain.; Pediatric Neurology, Hospital del Mar Research Institute (IMIM), Barcelona, Spain., Aneja A; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Hancarova M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Bendova S; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Schwarz M; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Kremlikova Pourova R; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Sedlacek Z; Department of Biology and Medical Genetics, Charles University Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Keena BA; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., March ME; Center for Applied Genomics, and., Hou C; Center for Applied Genomics, and., O'Connor N; Center for Applied Genomics, and., Bhoj EJ; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, and., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Towne M; Ambry Genetics, Aliso Viejo, California, USA., Li M; Invitae, San Francisco, California, USA., Tarnopolsky M; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Brady L; Division of Neuromuscular and Neurometabolic Disorders, Department of Paediatrics, McMaster University Children's Hospital, Hamilton, Ontario, Canada., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, United Kingdom., Faghfoury H; University Health Network, Toronto, Ontario, Canada., Parsley LK; University of Illinois College of Medicine, Mercy Health Systems, Rockford, Illinois, USA., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Dentici ML; Medical Genetics Unit, Academic Department of Pediatrics, IRCCS, Ospedale Pediatrico Bambino Gesù, Rome, Italy.; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Wright M; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Palmquist R; Division of Pediatric Neurology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Lai K; Division of Pediatric Pulmonary and Sleep Medicine, University of Utah, Salt Lake City, Utah, USA., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.; Pediatric Neurology and Muscular Diseases Unit, and., Iacomino M; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Zara F; Medical Genetics Unit, IRCCS, Istituto Giannina Gaslini, Genoa, Italy., Cooper A; Department of Genetics, Southern California Permanente Medical Group, Kaiser Permanente, San Diego, California, USA., Maarup TJ; Department of Genetics, Kaiser Permanente, Los Angeles, California, USA., Byler M; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Lebel RR; Center for Development, Behavior and Genetics, SUNY Upstate Medical University, Syracuse, New York, USA., Balci TB; Division of Genetics, Department of Paediatrics, London Health Sciences Centre, London, Ontario, Canada., Louie R; Greenwood Genetic Center, Greenwood, South Carolina, USA., Lyons M; Greenwood Genetic Center, Greenwood, South Carolina, USA., Douglas J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Nowak C; Division of Genetics and Metabolism, Mass General Hospital for Children, Boston, Massachusetts, USA., Afenjar A; APHP. SU, Reference Center for Intellectual Disabilities Caused by Rare Causes, Department of Genetics and Medical Embryology, Hôpital Trousseau, Paris, France., Hoyer J; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Keren B; Department of Genetics, Hospital Pitié-Salpêtrière, Paris, France., Maas SM; Department of Human Genetics, Academic Medical Center, and., Motazacker MM; Laboratory of Genome Diagnostics, Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Martinez-Agosto JA; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., Rabani AM; Division of Medical Genetics, Department of Pediatrics, UCLA, Los Angeles, California, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Falk MJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics., Ruggiero SM; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Division of Neurology, and.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Møller RS; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Dianalund, Denmark., Tessarollo L; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Tomassoni Ardori F; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Palko ME; Mouse Cancer Genetics Program, Center for Cancer Research, National Cancer Institute (NCI), Frederick, Maryland, USA., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Ganapathi M; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Gelb BD; Mindich Child Health and Development Institute and the Departments of Pediatrics and Genetics and Genomic Sciences, Icahn School of Medicine, New York, New York, USA., Jobanputra V; New York Genome Center, New York, New York, USA.; Department of Pathology, Columbia University Irving Medical Center, New York, New York, USA., Wilson A; New York Genome Center, New York, New York, USA., Greally J; Department of Genetics, Albert Einstein College of Medicine, Bronx, New York, USA., Jacquemont S; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Jizi K; Division of Genetics and Genomics, CHU Ste-Justine Hospital and CHU Sainte-Justine Research Centre, University of Montreal, Montreal, Quebec, Canada., Bruel AL; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France.; FHU-TRANSLAD, Fédération Hospitalo-Universitaire Translational Medicine in Developmental Anomalies, CHU Dijon Bourgogne, Dijon, France., Quelin C; Medical Genetics Department, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Misra VK; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA.; Central Michigan University College of Medicine, Discipline of Pediatrics, Mount Pleasant, Michigan, USA., Chick E; Division of Genetic, Genomic, and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan, USA., Romano C; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute-IRCCS, Troina, Italy.; Medical Genetics, Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy., Greco D; Oasi Research Institute-IRCCS, Troina, Italy., Arena A; Oasi Research Institute-IRCCS, Troina, Italy., Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', Naples, Italy., Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Taira R; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Tashiro K; Department of Pediatrics, Karatsu Red Cross Hospital, Saga, Japan., Sakai Y; Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan., Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; DZHK (German Center for Cardiovascular Research), partner site Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany., Wagner M; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Kutsche B; Kinderzentrum Oldenburg, Sozialpädiatrisches Zentrum, Diakonisches Werk Oldenburg, Oldenburg, Germany., Hurst AC; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Schmidt R; Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA., Randolph L; Keck School of Medicine of the University of Southern California, Los Angeles, California, USA.; Division of Medical Genetics, Children's Hospital Los Angeles, California, USA., Spillmann RC; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Shashi V; Department of Pediatrics-Medical Genetics, Duke University School of Medicine, Durham, North Carolina, USA., Higginbotham EJ; Genome Diagnostics, Department of Paediatric Laboratory Medicine, and., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Carnevale A; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Khan T; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Funalot B; Department of Genetics, Hôpital Henri-Mondor APHP and CHI Creteil, University Paris Est Creteil, IMRB, Inserm U.955, Creteil, France., Tran Mau-Them F; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France.; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, France., Fernandez Garcia Moya L; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., García-Miñaúr S; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Chad L; Department of Pediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Quercia N; Department of Genetic Counselling, Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Ottawa, Ontario, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada., Carrasco D; Department of Clinical Genetics, Cook Children's Hospital, Fort Worth, Texas, USA., Li C; Division of Genetics, Department of Paediatrics, McMaster University, Hamilton, Ontario, Canada., Sanchez-Valle A; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Kelley M; Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, Florida, USA., Nizon M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Jensson BO; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Sulem P; deCODE genetics/Amgen Inc., Reykjavik, Iceland., Stefansson K; deCODE genetics/Amgen Inc., Reykjavik, Iceland.; Faculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland., Gorokhova S; Aix Marseille University, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Busa T; Department of Medical Genetics, Timone Hospital, APHM, Marseille, France., Rio M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Hadj Habdallah H; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Lesieur-Sebellin M; Department of Genomic Medicine of Rare Disorders, Necker Hospital, APHP Center, University Paris Cité, Paris, France., Amiel J; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France., Pingault V; Rare Disease Genetics Department, APHP, Hôpital Necker, Paris, France.; Université Paris Cité, Inserm, Institut Imagine, Embryology and Genetics of Malformations Laboratory, Paris, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Mercier S; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Vincent M; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France., Philippe C; INSERM UMR 1231, Genetics of Developmental Anomalies, Université de Bourgogne Franche-Comté, Dijon, France., Fatus-Fauconnier C; Reference Center for Hereditary Metabolic Diseases, CHU Dijon Bourgogne, Dijon, France., Friend K; Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia., Halligan RK; Metabolic Clinic, and., Biswas S; Metabolic Clinic, and., Rosser J; Department of General Medicine, Women's and Children's Hospital, Adelaide, South Australia, Australia., Shoubridge C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Corbett M; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia., Barnett C; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; Pediatric and Reproductive Genetics Unit, Women's and Children's Hospital, North Adelaide, South Australia, Australia., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia., Leppig K; Genetic Services, Kaiser Permenante of Washington, Seattle, Washington, USA., Slavotinek A; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA., Marcelis C; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BB; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Brooks AS; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Cogne B; Nantes Université, CHU Nantes, Medical Genetics Department, Nantes, France.; Nantes Université, CNRS, INSERM, l'Institut du Thorax, Nantes, France.; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Rambaud T; Laboratoire de Biologie Médicale Multi-Sites SeqOIA (laboratoire-seqoia.fr), Paris, France., Tümer Z; Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark., Zackai EH; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Akizu N; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Song Y; Raymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, and.; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Jan 02; Vol. 134 (1). Date of Electronic Publication: 2024 Jan 02.

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.

Autor: Blumling AA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Prows CA; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Harr MH; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA., Clayton EW; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Wiesner GL; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Connolly JJ; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Harley JB; US Department of Veterans Affairs Medical Center, Cincinnati, OH 45220, USA., Hakonarson H; Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., McGowan ML; Biomedical Ethics Research Program, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55905, USA.; Department of Women's, Gender, and Sexuality Studies, College of Arts and Sciences, University of Cincinnati, Cincinnati, OH 45221, USA., Miller EM; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA., Myers MF; Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH 45267, USA.

Publikováno v: Journal of personalized medicine [J Pers Med] 2022 Nov 16; Vol. 12 (11). Date of Electronic Publication: 2022 Nov 16.

The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.

Autor: Leppig KA; Kaiser Permanente of Washington, Seattle, WA. Electronic address: Kathleen.A.Leppig@kp.org., Kulchak Rahm A; Geisinger, Danville, PA., Appelbaum P; Columbia University, New York, NY., Aufox S; Northwestern University, Evanston IL., Bland HT; Vanderbilt University Medical Center, Nashville, TN., Buchanan A; Geisinger, Danville, PA., Christensen KD; Harvard University, Cambridge, MA., Chung WK; Columbia University, New York, NY., Clayton EW; Vanderbilt University Medical Center, Nashville, TN., Crosslin D; University of Washington, Seattle, WA., Denny J; National Institutes of Health, Bethesda, MD., DeVange S; Kaiser Permanente of Washington, Seattle, WA., Gordon A; Northwestern University, Evanston IL., Green RC; Vanderbilt University Medical Center, Nashville, TN., Hakonarson H; Children's Hospital of Philadelphia, Philadelphia, PA., Harr MH; Children's Hospital of Philadelphia, Philadelphia, PA., Henrikson N; Kaiser Permanente Washington Health Research Institute, Seattle, WA., Hoell C; Northwestern University, Evanston IL., Holm IA; Boston Children's Hospital, Boston, MA., Kullo IJ; Mayo Clinic, Rochester, MN., Jarvik GP; University of Washington, Seattle, WA., Lammers PE; Baptist Memorial Health Center, Memphis, TN., Larson EB; Kaiser Permanente Washington Health Research Institute, Seattle, WA., Lindor NM; Mayo Clinic, Rochester, MN., Marasa M; Columbia University, New York, NY., Myers MF; Cincinnati Children's Hospital and Medical Center, Cincinnati, OH., Perez E; Harvard University, Cambridge, MA., Peterson JF; Vanderbilt University Medical Center, Nashville, TN., Pratap S; Meharry Medical College, Nashville, TN., Prows CA; Cincinnati Children's Hospital and Medical Center, Cincinnati, OH., Ralston JD; Kaiser Permanente Washington Health Research Institute, Seattle, WA., Rasouly HM; Columbia University, New York, NY., Roden DM; Vanderbilt University Medical Center, Nashville, TN., Sharp RR; Mayo Clinic, Rochester, MN., Singh R; Meharry Medical College, Nashville, TN., Shaibi G; Arizona State University, Tempe, AZ., Smith ME; Northwestern University, Evanston IL., Sturm A; Geisinger, Danville, PA., Thiese HA; Kaiser Permanente of Washington, Seattle, WA., Van Driest SL; Northwestern University, Evanston IL., Williams J; Geisinger, Danville, PA., Williams MS; Geisinger, Danville, PA., Wynn J; Columbia University, New York, NY., Blout Zawatsky CL; Harvard University, Cambridge, MA., Wiesner GL; Vanderbilt University Medical Center, Nashville, TN.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 May; Vol. 24 (5), pp. 1130-1138. Date of Electronic Publication: 2022 Feb 23.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Autor: Sheppard SE; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Campbell IM; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Harr MH; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gold N; Mass General Hospital for Children, Division of Medical Genetics and Metabolism and Harvard Medical School, Boston, Massachusetts, USA., Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bjornsson HT; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.; Landspitali University Hospital, Iceland., Cohen JS; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Fahrner JA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Johns Hopkins University, Baltimore, Maryland, USA., Fatemi A; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Harris JR; Division of Neurogenetics and Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, Maryland, USA.; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Nowak C; Division of Genetics and Genomics, Boston Children's Hospital, The Feingold Center for Children, Boston, Massachusetts, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, Tennessee, USA., Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA., Au M; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA., Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA., Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, and David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, California, USA., Campo MD; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA., Jones MC; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA., Abdul-Rahman O; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA., Bergstrom K; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, New York, USA., Bhoj E; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Dugan S; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA., Kaplan JD; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Derar N; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Gripp KW; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA., Hauser N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA., Innes AM; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Keena B; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kodra N; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA., Miller R; Division of Medical Genomics, Inova Translational Medicine Institute, Inova Fairfax Hospital, Falls Church, Virginia, USA., Nelson B; Department of Clinical Skills, St. George's University, True Blue, Grenada., Nowaczyk MJ; McMaster University, Hamilton, Canada., Rahbeeni Z; Department of Medical Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ben-Shachar S; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Shieh JT; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Slavotinek A; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Sobering AK; Department of Biochemistry, St. George's University, True Blue, Grenada., Abbott MA; Medical Genetics, Department of Pediatrics, University of Massachusetts Medical School - Baystate, Springfield, Massachusetts, USA., Allain DC; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Amlie-Wolf L; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA., Au PYB; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Bedoukian E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Beek G; Children's Hospital of Minnesota, Minneapolis, Minnesota, USA., Barry J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA., Berg J; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Cytrynbaum C; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Chung BH; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR., Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dorrani N; Department of Pediatrics, University of California Los Angeles, California, Los Angeles, USA.; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA., Eaton A; Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada., Flores-Daboub JA; Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA., Dubbs H; Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Felix CA; Division of Oncology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Fong CT; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Fung JLF; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR., Gangaram B; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Goldstein A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Greenberg R; Genetic Institute, Tel-Aviv Medical Center, affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ha TK; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Hersh J; Weisskopf Child Evaluation Center, Department of Pediatrics, University of Louisville, Louisville, Kentucky, USA., Izumi K; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kallish S; Division of Translational Medicine and Human Genetics Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Kravets E; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Kwok PY; Division of Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA., Jobling RK; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Knight Johnson AE; Department of Human Genetics, University of Chicago, Chicago, Illinois, USA., Kushner J; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA., Lee BH; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Levin B; MD Anderson Cancer Center at Cooper, Cooper University Health Care, Camden, New Jersey, USA., Lindstrom K; Phoenix Children's Hospital, Phoenix, Arizona, USA., Manickam K; Division of Human Genetics, Department of Internal Medicine, Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Mardach R; Division of Medical Genetics, Department of Pediatrics, University of California, and Rady Children's Hospital, San Diego, California, USA., McCormick E; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., McLeod DR; Department of Medical Genetics, University of Calgary, Calgary, Canada., Mentch FD; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Minks K; Department of Neurology, Division of Child Neurology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Muraresku C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nelson SF; UCLA Clinical Genomics Center, University of California Los Angeles, California, Los Angeles, USA.; Department of Human Genetics, Center for Duchenne Muscular Dystrophy University of California Los Angeles, California, Los Angeles, USA., Porazzi P; Department of Cancer Biology, Sidney Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania, USA., Pichurin PN; Clinical Genomics Center, University of California Los Angeles, Los Angeles, California, USA., Powell-Hamilton NN; Division of Medical Genetics, Alfred I duPont Hospital for Children, Wilmington, Delaware, USA., Powis Z; Quest Diagnostics Kalamzoo, Kalamzoo, Michigan, USA., Ritter A; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rogers C; Molecular and Medical  Genetics, Oregon Health and Science University, Portland, Oregon, USA., Rohena L; Division of Medical Genetics, Department of Pediatrics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine-UT Health San Antonio, San Antonio, Texas, USA., Ronspies C; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Schroeder A; Department of Pediatrics, Division of Genetics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA., Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Starr L; Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA., Stoler J; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, Maryland, USA., Velinov M; NYS Institute for Basic Research in developmental Disabilities, Staten Island, New York, USA., Weksberg R; Division of Clinical and Metabolic Genetics and Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada., Wilnai Y; Genetic Institute, Sourasky Medical Center, Te-Aviv, Tel Aviv, Israel., Zadeh N; Genetics Center and CHOC Children's Hospital, Orange, California, USA., Zand DJ; Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA., Falk MJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Quintero-Rivera F; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR.; Department of Pathology and Laboratory Medicine, University of California Los Angeles, California, Los Angeles, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1649-1665. Date of Electronic Publication: 2021 Mar 30.

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network.

Autor: Wiesner GL; Vanderbilt Clinical and Translational Hereditary Cancer Program, Vanderbilt-Ingram Cancer Center, and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Kulchak Rahm A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Appelbaum P; Department of Psychiatry, College of Physicians and Surgeons, Columbia University, New York, NY 10027, USA., Aufox S; Department of Obstetrics and Gynecology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Bland ST; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Blout CL; Department of Medicine Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA., Christensen KD; Harvard Pilgrim Health Care Institute and Harvard Medical School, Boston, MA 02115, USA., Chung WK; Department of Pediatrics and Department of Medicine, Columbia University, New York, NY 10027, USA., Clayton EW; Center for Biomedical Ethics and Society and Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Green RC; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Harr MH; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Henrikson N; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA., Hoell C; Center for Genetic Medicine, Northwestern University, Chicago, IL 60611, USA., Holm IA; Division of Genetics and Genomics, Boston Children's Hospital and Department of Pediatrics, Harvard Medical School, Boston, MA 02115, USA., Jarvik GP; Departments of Medicine, Division of Medical Genetics and Genome Sciences, University of Washington, Seattle, WA 98195, USA., Kullo IJ; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN 55902, USA., Lammers PE; Department of Internal Medicine, Meharry Medical College, Nashville, TN 37208, USA., Larson EB; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA., Lindor NM; Department of Health Sciences Research, Mayo Clinic Arizona, Scottsdale, AZ 85259, USA., Marasa M; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA., F Myers M; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, College of Medicine, University of Cincinnati, Cincinnati, OH 45229, USA., Peterson JF; Department of Medicine and Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Prows CA; Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA., Ralston JD; Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA., Milo Rasouly H; Department of Medicine, Division of Nephrology, Columbia University, New York, NY 10032, USA., Sharp RR; Biomedical Ethics Program, Mayo Clinic, Rochester, MN 55902, USA., Smith ME; Department of Medicine, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA., Van Driest SL; Department of Pediatrics and Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Williams JL; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Williams MS; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Wynn J; Department of Pediatrics, Columbia University, New York, NY 10027, USA., Leppig KA; Genetic Services and Kaiser Permanente Washington Health Research Institute, Kaiser Permanente of Washington, Seattle, WA 98101, USA.

Publikováno v: Journal of personalized medicine [J Pers Med] 2020 Apr 27; Vol. 10 (2). Date of Electronic Publication: 2020 Apr 27.