Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Autor: Ziegler A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Koval-Burt C; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Kay DM; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Suchy SF; GeneDx, LLC, Gaithersburg, Maryland., Begtrup A; GeneDx, LLC, Gaithersburg, Maryland., Langley KG; GeneDx, LLC, Gaithersburg, Maryland., Hernan R; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Amendola LM; Illumina, San Diego, California., Boyd BM; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Bradley J; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Brandt T; GeneDx, LLC, Gaithersburg, Maryland., Cohen LL; NewYork-Presbyterian Weill Cornell Medical Center, New York., Coffey AJ; Illumina, San Diego, California., Devaney JM; GeneDx, LLC, Gaithersburg, Maryland., Dygulska B; NewYork-Presbyterian Brooklyn Methodist Hospital, New York., Friedman B; GeneDx, LLC, Gaithersburg, Maryland., Fuleihan RL; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York., Gyimah A; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Hahn S; Department of Pediatrics, Biochemical Genetics, University of Washington, Seattle Children's Hospital, Seattle., Hofherr S; GeneDx, LLC, Gaithersburg, Maryland., Hruska KS; GeneDx, LLC, Gaithersburg, Maryland., Hu Z; Department of Systems Biology, Columbia University Irving Medical Center, New York, New York., Jeanne M; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts., Jin G; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Johnson DA; GeneDx, LLC, Gaithersburg, Maryland., Kavus H; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Leibel RL; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Lobritto SJ; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., McGee S; GeneDx, LLC, Gaithersburg, Maryland., Milner JD; Division of Allergy, Immunology & Rheumatology, Columbia University Irving Medical Center, New York, New York., McWalter K; GeneDx, LLC, Gaithersburg, Maryland., Monaghan KG; GeneDx, LLC, Gaithersburg, Maryland., Orange JS; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Pimentel Soler N; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Quevedo Y; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Ratner S; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Retterer K; GeneDx, LLC, Gaithersburg, Maryland., Shah A; Division of Pediatric Cardiology, Department of Pediatrics, Weill Cornell Medical College, New York, New York., Shapiro N; NewYork-Presbyterian Queens, Flushing., Sicko RJ; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Silver ES; Division of Pediatric Cardiology, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Strom S; Illumina, San Diego, California., Torene RI; GeneDx, LLC, Gaithersburg, Maryland., Williams O; Division of Pediatric Hematology, Oncology, and Stem Cell Transplantation, Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Ustach VD; GeneDx, LLC, Gaithersburg, Maryland., Wynn J; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York., Taft RJ; Illumina, San Diego, California., Kruszka P; GeneDx, LLC, Gaithersburg, Maryland., Caggana M; Newborn Screening Program, Wadsworth Center, New York State Department of Health, Albany., Chung WK; Department of Pediatrics, Columbia University Irving Medical Center, New York, New York.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.

Publikováno v: JAMA [JAMA] 2024 Oct 24. Date of Electronic Publication: 2024 Oct 24.

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.

Autor: Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., O'Brien TJ; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Karimiani EG; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Takizawa M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Romy R; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Carroll CJ; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Yilmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Kanmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Serin M; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Krishnakumar D; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Maw A; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Rao TS; Department of Paediatrics, Luton and Dunstable University Hospital, Luton, United Kingdom., Alsubhi S; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada., Srour M; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Center (MUHC), Montreal, Quebec, Canada., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Goldberg RE; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Shamseldin H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway., Magliocco Ceroni JR; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Yesil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sengenc E; Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey., Guler S; Department of Child Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Hull M; Texas Children's Hospital, Houston, TX., Parnes M; Texas Children's Hospital, Houston, TX., Aktas D; Damagen Genetic Diagnostic Center, Ankara, Turkey., Anlar B; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Bayram Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Alavi S; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Madani Manshadi SA; Meybod Genetic Research Center, Meybod, Yazd, Iran., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, 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., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Elshafie RM; Kuwait Medical Genetic Centre, Ministry of Health, Kuwait., Salayev K; Department of Neurology, Azerbaijan Medical University, Baku, Azerbaijan., Guliyeva U; MediClub Hospital, Baku, Azerbaijan., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Gleeson JG; Department of Neurosciences, University of California San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA., Monaghan KG; GeneDx, Gaithersburg, MD., Langley KG; GeneDx, Gaithersburg, MD., Yang H; GeneDx, Gaithersburg, MD., Motavaf M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Safari S; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alipour M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Biophysics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Brown AEX; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Electronic address: naomat@yokohama-cu.ac.jp.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 90-102. Date of Electronic Publication: 2022 Oct 31.

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.

Autor: van Woerden GM; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Bos M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., de Konink C; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Distel B; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Avagliano Trezza R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Shur NE; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA., Barañano K; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Mahida S; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Chassevent A; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA., Schreiber A; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Erwin AL; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA., Gripp KW; Division of Medical Genetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA., Rehman F; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Brulleman S; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., McCormack R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., de Geus G; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands., Kalsner L; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA., Sorlin A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs», Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Koolen DA; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Gabriel MK; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Rossi M; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA., Fitzpatrick DR; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, UK., Wilkie AOM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK., Calpena E; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK., Johnson D; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK., Brooks A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Fleischer J; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA., Groepper D; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada., Goodwin A; VCU Medical Center, Clinical Genetics Services, Richmond, Virginia, USA., Humberson J; Division of Pediatric Genetics, Department of Pediatrics, University of Virginia Medical Center, Charlottesville, Virginia, USA., Noyes A; GeneDx, Gaithersburg, Maryland, USA., Langley KG; GeneDx, Gaithersburg, Maryland, USA., Telegrafi A; GeneDx, Gaithersburg, Maryland, USA., Blevins A; GeneDx, Gaithersburg, Maryland, USA., Hoffman J; GeneDx, Gaithersburg, Maryland, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Juusola J; GeneDx, Gaithersburg, Maryland, USA., Monaghan KG; GeneDx, Gaithersburg, Maryland, USA., Punj S; GeneDx, Gaithersburg, Maryland, USA., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Elgersma Y; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2021 Apr; Vol. 42 (4), pp. 445-459. Date of Electronic Publication: 2021 Mar 01.

Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.

Autor: Martinelli S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Krumbach OHF; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Coppola S; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy., Amin E; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Pannone L; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Nouri K; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Farina L; National Center for Rare Diseases, Istituto Superiore di Sanità, Rome 00161, Italy., Dvorsky R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Lepri F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Buchholzer M; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Konopatzki R; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Walsh L; Riley Hospital for Children, Indianapolis, IN 46202, USA., Payne K; Riley Hospital for Children, Indianapolis, IN 46202, USA., Pierpont ME; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55454, USA; Children's Hospital of Minnesota, Minneapolis, MN 55454, USA., Vergano SS; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA., Langley KG; GeneDX, Gaithersburg, MD 20877, USA., Larsen D; Department of Neurology, Washington University, St. Louis, MO 63130, USA., Farwell KD; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Tang S; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Mroske C; Ambry Genetics, Department of Clinical Genomics, Aliso Viejo, CA 92656, USA., Gallotta I; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy., Di Schiavi E; Institute of Biosciences and Bioresources, National Research Council, 80131 Naples, Italy., Della Monica M; Genetica Medica, Azienda Ospedaliera Universitaria Meyer, 50139 Florence, Italy., Lugli L; Struttura Complessa di Neonatologia, Policlinico di Modena, 41124 Modena, Italy., Rossi C; Genetica Medica, Policlinico S.Orsola-Malpighi, 40138 Bologna, Italy., Seri M; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy., Cocchi G; Department of Medical and Surgical Sciences, University of Bologna, 40138 Bologna, Italy., Henderson L; GeneDX, Gaithersburg, MD 20877, USA., Baskin B; GeneDX, Gaithersburg, MD 20877, USA., Alders M; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands., Mendoza-Londono R; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Pediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada., Dupuis L; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Meeks N; Children's Hospital Colorado, Aurora, CO 80045, USA., Brown K; Children's Hospital Colorado, Aurora, CO 80045, USA., Causey T; Department of Human and Molecular Genetics, Virginia Commonwealth University, Richmond, VA 23284, USA., Cho MT; GeneDX, Gaithersburg, MD 20877, USA., Demuth S; Praxis für Humangenetik Erfurt, Erfurt 99084, Germany., Digilio MC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy., Gelb BD; Mindich Child Health and Development Institute and Departments of Pediatrics, and Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Bamshad MJ; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Zenker M; Institute of Human Genetics, University Hospital Magdeburg, Magdeburg 39120, Germany., Ahmadian MR; Institute of Biochemistry and Molecular Biology II, Medical Faculty of the Heinrich-Heine University, Düsseldorf 40225, Germany., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam 1105-AZ, the Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net., Mirzaa GM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA. Electronic address: gmirzaa@u.washington.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 Feb 01; Vol. 102 (2), pp. 309-320. Date of Electronic Publication: 2018 Jan 25.

Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.

Autor: Langley KG; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia., Brown J; George Mason University, Fairfax, Virginia., Gerber RJ; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Neurodevelopmental Pediatrics, Naval Medical Center Portsmouth, Virginia., Fox J; Division of Pediatric Urology, Naval Medical Center Portsmouth, Virginia., Friez MJ; Greenwood Genetic Center, South Carolina., Lyons M; Greenwood Genetic Center, South Carolina., Schrier Vergano SA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2015 Dec; Vol. 167A (12), pp. 3180-5. Date of Electronic Publication: 2015 Sep 04.