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Wyświetlanie 1-7 z 7
Tytuł :
Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Autorzy :
Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA. .; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA. .
Creighton BA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Breau KA; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Spillmann RC; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
Torti E; GeneDx, Gaithersburg, MD, USA.
Dontu S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Tripathi S; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Ajit D; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Edwards RJ; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Afriyie S; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Bay JC; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Harper KM; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Beltran AA; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Munoz LJ; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Falcon Rodriguez L; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Stankewich MC; Department of Pathology, Yale University, New Haven, CT, USA.
Person RE; GeneDx, Gaithersburg, MD, USA.
Si Y; GeneDx, Gaithersburg, MD, USA.
Normand EA; GeneDx, Gaithersburg, MD, USA.
Blevins A; GeneDx, Gaithersburg, MD, USA.
May AS; Department of Neurology, Columbia University, New York, NY, USA.
Bier L; Institute for Genomic Medicine, Columbia University, New York, NY, USA.
Aggarwal V; Institute for Genomic Medicine, Columbia University, New York, NY, USA.; Laboratory of Personalized Genomic Medicine, Department of Pathology and Cell Biology, Columbia University, New York, NY, USA.
Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
Cremer K; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Becker J; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Engels H; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
Aretz S; Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany.
MacKenzie JJ; McMaster University, Hamilton, Ontario, Canada.
Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Gassen KLI; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
Parsons GM; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
Mark P; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
Helbig I; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.
McKeown SE; Division of Neurology, Departments of Neurology and Pediatrics, The Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Stratton R; Genetics, Driscoll Children's Hospital, Corpus Christi, TX, USA.
Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.
Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Université de Nantes, CNRS, INSERM, L'Institut du Thorax, Nantes, France.
Cacheiro P; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Smedley D; William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Firth HV; Department of Clinical Genetics, Cambridge University Hospitals, Cambridge, UK.; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Kloth K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Weiss D; Neuropediatrics, Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Fairley C; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.
Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA.; Institute for Human Genetics, University of California San Francisco, San Francisco, CA, USA.
Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Jayakar P; Nicklaus Children's Hospital, Miami, FL, USA.
Kurtz-Nelson E; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Bernier RA; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA.
van de Laar IMBH; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
McConkie-Rosell A; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
McDonald MT; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Lanpher BC; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Gunderson LB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
Yoon G; Divisions of Clinical/Metabolic Genetics and Neurology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.
Jech R; Department of Neurology, Charles University, 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic.
Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Lehrstuhl für Neurogenetik, Technische Universität München, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.
Beltran AS; Human Pluripotent Stem Cell Core, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Pharmacology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Biochemistry, Medical College of Wisconsin, Milwaukee, WI, USA.; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA.
Temple B; Department of Biochemistry and Biophysics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Moy SS; Department of Psychiatry, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Tan QK; Department of Pediatrics, Duke University Medical Center, Duke University, Durham, NC, USA.
Lorenzo DN; Department of Cell Biology and Physiology, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. .; Carolina Institute for Developmental Disabilities, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. .; Neuroscience Center, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. .
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Corporate Authors :
Undiagnosed Diseases Network
Genomics England Research Consortium
Źródło :
Nature genetics [Nat Genet] 2021 Jul; Vol. 53 (7), pp. 1006-1021. Date of Electronic Publication: 2021 Jul 01.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Dominant*
Genetic Predisposition to Disease*
Genetic Variation*
Neurodevelopmental Disorders/*genetics
Spectrin/*genetics
Animals ; Genetic Association Studies/methods ; Heterozygote ; Humans ; Mice ; Neurodevelopmental Disorders/diagnosis ; Phenotype ; Spectrin/metabolism
Czasopismo naukowe
Tytuł :
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Autorzy :
Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA.
Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Thomas A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Stong N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Mulhern MS; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Akman CI; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA.
Heinzen EL; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Yeh R; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Chong JSC; Joint CUHK-Baylor Center of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China.
Bend R; Greenwood Genetic Center, Greenwood, SC, USA.
Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA.
Lee JA; Greenwood Genetic Center, Greenwood, SC, USA.
Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, MD, USA.
Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.
Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA.
Nava C; Department of Genetics, APHP Sorbonne University, Paris, France.
Keren B; Department of Genetics, APHP Sorbonne University, Paris, France.
Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Reference Center for Intellectual Disabilities of Rare Causes, Paris, France.
Mathieu S; Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France.
Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, The Netherlands.
Madan-Khetarpal S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Infante EM; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA.
Bluvstein J; School of Medicine, New York University, New York, NY, USA.
Seeley A; Geisinger Medical Center, Danville, PA, USA.
Bachman K; Geisinger Medical Center, Danville, PA, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA.
Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ferber MJ; Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.
Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Joset P; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland.
Sheehan T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Vasquez A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands.
White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Monaghan KG; GeneDx, Gaithersburg, MD, USA.
Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.
Sands TT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA.
Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
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Źródło :
Epilepsia [Epilepsia] 2021 Jul; Vol. 62 (7), pp. e103-e109. Date of Electronic Publication: 2021 May 26.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
Autorzy :
Radio FC; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pang K; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Ciolfi A; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Levy MA; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Hernández-García A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Pedace L; Oncohaematology Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Liu Z; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Jackson A; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
McConkey H; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Stellacci E; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Lo Cicero S; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, 00161 Rome, Italy.
Motta M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Carrozzo R; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Dentici ML; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
McWalter K; GeneDx, Gaithersburg, MD 20877, USA.
Desai M; GeneDx, Gaithersburg, MD 20877, USA.
Monaghan KG; GeneDx, Gaithersburg, MD 20877, USA.
Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA.
Philippe C; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Vitobello A; Inserm UMR 1231 GAD (Génétique des Anomalies du Développement), Université de Bourgogne, 21070 Dijon, France; UF Innovation en Diagnostic Génomique des Maladies Rares, CHU, Dijon Bourgogne, 21079 Dijon, France.
Au M; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Grand K; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Sanchez-Lara PA; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Baez J; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Kulch P; Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Sebastian J; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Madan-Khetarpal S; Division of Medical Genetics, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
Roadhouse C; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
MacKenzie JJ; McMaster Children's Hospital, Hamilton, ON L8N 3Z5, Canada.
Monteleone B; Clinical genetics, NYU Langone Long Island School of Medicine, Mineola, NY 11501, USA.
Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Jean Cuevas JK; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Cross L; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Zhou D; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Hartley T; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Sawyer SL; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Monteiro FP; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Secches TV; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Kok F; Mendelics Genomic Analysis, Campo Belo - São Paulo 04013-000, Brazil.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Macke EL; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Morava E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Kemppainen J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Iascone M; Ospedale Papa Giovanni XXIII, 24127 Bergamo, Italy.
Selicorni A; Azienda Socio Sanitaria Territoriale Lariana, 22100 Como, Italy.
Tenconi R; Dipartimento di Pediatria, Università di Padova, 35137 Padua, Italy.
Amor DJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Pais L; Medical and Populations Genetics Program, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, VIC 3052, Australia.
Turnpenny PD; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Stals K; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Ellard S; Royal Devon & Exeter NHS Foundation Trust, Exeter EX2 5DW, UK.
Cabet S; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Lesca G; Department of Genetics, Hospices Civils de Lyon, Groupement Hospitalier Est, Claude Bernard Lyon 1 University, 69002 Lyon, France.
Pascal J; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Steindl K; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Ravid S; Pediatric Neurology Unit, Ruth Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.
Weiss K; Genetics Institute, Rambam Health Care Campus, Rappaport Faculty of Medicine, Israel Institute of Technology, Haifa 3109601, Israel.
Castle AMR; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Carter MT; Department of Genetics, CHEO, University of Ottawa, Ottawa, ON K1N 6N5, Canada.
Kalsner L; Connecticut Children's Medical Center, University of Connecticut School of Medicine, Farmington, CT 06032, USA.
de Vries BBA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
van Bon BW; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Wevers MR; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Pfundt R; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands.
Stegmann APA; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, 6229 HX Maastricht, the Netherlands.
Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Kingston HM; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Chandler KE; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Sheehan W; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT 59601, USA.
Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Towne MC; Ambry Genetics, Aliso Viejo, CA 92656, USA.
Robin NH; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Goodloe D; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Sherbini O; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Bluske K; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Hagelstrom RT; Illumina Clinical Services Laboratory, San Diego, CA 92122, USA.
Zanus C; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Faletra F; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Musante L; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy.
Kurtz-Nelson EC; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Earl RK; Department of Psychiatry & Behavioral Sciences, University of Washington, Seattle, WA 98195, USA.
Anderlid BM; Department of Molecular Medicine and Surgery, Karolinska Institutet and Department of Clinical Genetics, Karolinska University Hospital, 17176 Stockholm, Sweden.
Morin G; CA de Génétique Clinique & Oncogénétique, CHU Amiens-Picardie, 80054 Amiens, France.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Brooks AS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Gribnau J; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Boers RG; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Finestra TR; Department of Developmental Biology, Oncode Institute, Erasmus MC, University Medical Center, 3015 GD Rotterdam, the Netherlands.
Carter LB; Department of Pediatrics, Division of Medical Genetics, Levine Children's Hospital Atrium Health, Charlotte, NC 28203, USA.
Rauch A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.
Gasparini P; Institute for Maternal and Child Health, IRCCS 'Burlo Garofolo,' 34137 Trieste, Italy; Department of Medicine, Surgery & Health Science, University of Trieste, 34143 Trieste, Italy.
Boycott KM; Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, 3015 GD Rotterdam, the Netherlands.
Graham JM Jr; Division of Medical Genetics, Department of Pediatrics, Cedars Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Faivre L; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD et Institut GIMI, 77908 Dijon, France; UMR 1231 GAD, Inserm - Université Bourgogne-Franche Comté, 77908 Dijon, France.
Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, M13 9 WL Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, M13 9WL Manchester, UK.
Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.
Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA.
Priolo M; UOSD Genetica Medica del Grande Ospedale Metropolitano 'Bianchi Melacrino Morelli' di Reggio Calabria, 89124 Reggio Calabria, Italy.
Dallapiccola B; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Sadikovic B; Molecular Genetics Laboratory, Molecular Diagnostics Division, London Health Sciences Centre, London, ON N6A5W9, Canada.
Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
Holder JL Jr; Division of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.
Tartaglia M; Genetics and Rare Disease Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Mar 04; Vol. 108 (3), pp. 502-516. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Disorders/*genetics
Chromosomes, Human, Pair 1/*genetics
Chromosomes, Human, X/*genetics
DNA-Binding Proteins/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Autism Spectrum Disorder/genetics ; Autism Spectrum Disorder/pathology ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosome Disorders/physiopathology ; DNA Methylation/genetics ; Epigenesis, Genetic/genetics ; Female ; Haploinsufficiency/genetics ; Humans ; Intellectual Disability/genetics ; Intellectual Disability/physiopathology ; Male ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/physiopathology ; Phenotype ; Young Adult
SCR Disease Name :
Chromosome 1p36 Deletion Syndrome
Czasopismo naukowe
Tytuł :
Impact of integrated translational research on clinical exome sequencing.
Autorzy :
Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. .
Cousin MA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Pinto E Vairo F; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Morales-Rosado JA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Macke EL; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Jenkinson WG; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Ferrer A; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Schultz-Rogers LE; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Olson RJ; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Oliver GR; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Sigafoos AN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Schwab TL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Urrutia RA; Division of Research, Department of Surgery and the Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA.
Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.
Gupta A; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Blackburn PR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Boczek NJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Prochnow CA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Lowy RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Mulvihill LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Aoudia SL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Kruisselbrink TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Hager MM; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.
Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Rust LM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Summer Bolster JM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Beck SA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.
Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Niu Z; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Ferber MJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
Clark KJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Pichurin PN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Deyle DR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Morava-Kozicz E; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Gavrilova RH; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Dhamija R; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA.
Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA.
Lanpher BC; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Babovic-Vuksanovic D; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Farrugia G; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA.
Schimmenti LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.
Stewart AK; Princess Margaret Cancer Centre, Toronto, ON, Canada.
Lazaridis KN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. .; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. .
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Źródło :
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 498-507. Date of Electronic Publication: 2020 Nov 04.
Typ publikacji :
Journal Article
MeSH Terms :
Exome*/genetics
Undiagnosed Diseases*
Genetic Testing ; Humans ; Phenotype ; Translational Medical Research ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
SPECC1L regulates palate development downstream of IRF6.
Autorzy :
Hall EG; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Wenger LW; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Wilson NR; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Undurty-Akella SS; Department of Pediatrics, Craniofacial Anomalies Research Center, University of Iowa, Iowa City, IA 52242, USA.
Standley J; Department of Pediatrics, Craniofacial Anomalies Research Center, University of Iowa, Iowa City, IA 52242, USA.
Augustine-Akpan EA; Department of Oral Pathology, Radiology and Medicine/Dow Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA.
Kousa YA; Department of Biochemistry and Molecular Biology, Michigan State University, East Lansing, MI 48824, USA.
Acevedo DS; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Goering JP; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Pitstick L; Department of Biochemistry, Midwestern University, Downers Grove, IL 60515, USA.
Natsume N; Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University Hospital, 2-11 Suemori-Dori, Nagoya, Chikusa-ku, Japan.
Paroya SM; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Busch TD; Department of Pediatrics, Craniofacial Anomalies Research Center, University of Iowa, Iowa City, IA 52242, USA.
Ito M; Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University Hospital, 2-11 Suemori-Dori, Nagoya, Chikusa-ku, Japan.
Mori A; Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University Hospital, 2-11 Suemori-Dori, Nagoya, Chikusa-ku, Japan.
Imura H; Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University Hospital, 2-11 Suemori-Dori, Nagoya, Chikusa-ku, Japan.
Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.
Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Babovic-Vuksanovic D; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.
Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, PMB 12003, Nigeria.
Eshete MA; Department of Plastic and Reconstructive Surgery, Addis Ababa University, Addis Ababa, PO Box 26493, Ethiopia.
Bjork BC; Department of Biochemistry, Midwestern University, Downers Grove, IL 60515, USA.
Suzuki S; Department of Pediatrics, Craniofacial Anomalies Research Center, University of Iowa, Iowa City, IA 52242, USA.; Division of Research and Treatment for Oral and Maxillofacial Congenital Anomalies, Aichi Gakuin University Hospital, 2-11 Suemori-Dori, Nagoya, Chikusa-ku, Japan.
Murray JC; Department of Pediatrics, Craniofacial Anomalies Research Center, University of Iowa, Iowa City, IA 52242, USA.
Schutte BC; Department of Microbiology and Molecular Genetics, Michigan State University, East Lansing, MI 48824, USA.; Department of Pediatrics and Human Development, Michigan State University, East Lansing, MI 48824, USA.
Butali A; Department of Oral Pathology, Radiology and Medicine/Dow Institute for Dental Research, College of Dentistry, University of Iowa, Iowa City, IA 52242, USA.
Saadi I; Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
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Źródło :
Human molecular genetics [Hum Mol Genet] 2020 Mar 27; Vol. 29 (5), pp. 845-858.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Cleft Palate/*pathology
Interferon Regulatory Factors/*metabolism
Phosphoproteins/*physiology
Animals ; Cleft Palate/genetics ; Cleft Palate/metabolism ; Female ; Humans ; Interferon Regulatory Factors/genetics ; Mice ; Mice, Inbred C57BL ; Mice, Knockout ; Phosphoproteins/genetics ; Phosphoproteins/metabolism
Czasopismo naukowe
Tytuł :
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Autorzy :
Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Bosso-Lefèvre C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.
Grady G; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Szenker-Ravi E; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
Li H; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.
Pierce S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Lebigot É; Service De Biochimie, Hopital Bicêtre, Assistance publique-Hôpitaux de Paris, 78 avenue du general leclerc, Le Kremlin Bicêtre, France.
Tan TT; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Eio MY; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Narayanan G; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Utami KH; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Yau M; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
Handal N; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Deigendesch W; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Keimer R; Ped Neurology, Staufer Hospital, Wetzgauer Straße 85, Schwäbisch-Gmünd, Germany.
Marzouqa HM; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Gunay-Aygun M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Muriello MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Verhelst H; Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium.
Weckhuysen S; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
Mahida S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Thomas TG; Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
Haye D; Service de Génétique Médicale, CHU De Nice Hôpital de l'Archet 2, 151 route Saint Antoine de la Ginestière, CS 23079 062002, Nice, Cedex 3, France.
Willemsen MAAP; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Mitchell WG; Neurology Division, Childrens Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90033, USA.
Pierson TM; Department of Pediatrics, Department of Neurology, & the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Martinelli D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Gilboa T; Child Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Tamim AM; Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem MO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulrahim MM; 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.
Awaji A; Department of Pediatrics, King Fahad Central Hospital in Jizan, Abu Arish, Saudi Arabia.
Mahmoud AAH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Asmari AA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Algain SM; General Pediatrics and Adolescents, King Fahad Medical City, Riyadh, Saudi Arabia.
Jad LA; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Aldhalaan HM; Neuroscience Department King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Riess A; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany.
Kraegeloh-Mann I; Department of Pediatric Neurology, University of Tübingen, Tübingen, Germany.
Bauer P; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany.
Gulsuner S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Stamberger H; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
Ng AYJ; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
Tohari S; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Keren B; APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics, Paris, France.
Schultz-Rogers LE; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Klee EW; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Mor-Shaked H; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Telegrafi A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Schüle R; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Ciruna B; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
Bonnard C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
Pouladi MA; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.; Department of Physiology, National University of Singapore, Singapore, 117597, Singapore.; Department of Medicine, National University of Singapore, Singapore, 117597, Singapore.
Stewart JC; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Claridge-Chang A; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.; Program in Neuroscience and Behavioral Disorders, Duke-NUS Medical School, Singapore, Singapore.
Lefeber DJ; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Nijmegen, The Netherlands.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mathuru AS; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Venkatesh B; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Barycki JJ; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Simpson MA; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. .; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. .
Reversade B; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore. .; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore. .; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore. .; Medical Genetics Department, Koç University School of Medicine, 34010, Istanbul, Turkey. .; Reproductive Biology Laboratory, Obstetrics and Gynaecology, Academic Medical Center (AMC), Meibergdreef 9, 1105 AZ, Amsterdam-Zuidoost, The Netherlands. .
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Źródło :
Nature communications [Nat Commun] 2020 Jan 30; Vol. 11 (1), pp. 595. Date of Electronic Publication: 2020 Jan 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Epilepsy/*genetics
Loss of Function Mutation/*genetics
Oxidoreductases/*genetics
Uridine Diphosphate Glucose Dehydrogenase/*genetics
Adolescent ; Alleles ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Kinetics ; Male ; Organoids/pathology ; Oxidoreductases/chemistry ; Pedigree ; Protein Domains ; Syndrome ; Zebrafish
Czasopismo naukowe
Tytuł :
A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease.
Autorzy :
Oliver GR; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Tang X; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Schultz-Rogers LE; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Vidal-Folch N; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.
Jenkinson WG; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Schwab TL; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota, United States of America.
Gaonkar K; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Cousin MA; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Nair A; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Basu S; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Chanana P; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.
Oglesbee D; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota, United States of America.
Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota, United States of America.; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, United States of America.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, United States of America.
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Źródło :
PloS one [PLoS One] 2019 Oct 02; Vol. 14 (10), pp. e0223337. Date of Electronic Publication: 2019 Oct 02 (Print Publication: 2019).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*genetics
Mutant Chimeric Proteins/*genetics
Rare Diseases/*diagnosis
Rare Diseases/*genetics
Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Genetic Markers ; Humans ; Infant ; Inheritance Patterns ; Male ; Middle Aged ; Phenotype ; Workflow ; Young Adult
Czasopismo naukowe
    Wyświetlanie 1-7 z 7

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