Zobrazeno 1 - 10
of 88
pro vyhledávání: '"Blackburn PR"'
Publikováno v:
The Application of Clinical Genetics, Vol Volume 10, Pp 57-66 (2017)
Patrick R Blackburn,1,2,* Jennifer M Gass,1,* Filippo Pinto e Vairo,3,4,* Kristen M Farnham,5 Herjot K Atwal,6 Sarah Macklin,5 Eric W Klee,3,4,7,8 Paldeep S Atwal1,5 1Center for Individualized Medicine, 2Department of Health Sciences Research, Mayo C
Externí odkaz:
https://doaj.org/article/f1df526677534a2595339f0c57577aa8
Autor:
Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA., Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA., Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia., Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA., Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06.
Autor:
Lesmann H; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany.; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hustinx A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University and Medical Genetics, Tygerberg Hospital, Stellenbosch, South Africa., Klinkhammer H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.; Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, NRW, Germany., Marchi E; New York State Institute for Basic Research in Developmental Disabilities, New York State, Albany, New York, USA., Caro P; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Pantel JT; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Hagen MT; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Thong MK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Binti Mazlan RA; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Tae SK; Department of Paediatrics, Faculty of Medicine, University of Malaya, 50603 Kuala Lumpur, Malaysia., Kamphans T; GeneTalk GmbH, Bonn, NRW, Germany., Meiswinkel W; GeneTalk GmbH, Bonn, NRW, Germany., Li JM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Javanmardi B; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Uwineza A; College of Medicine and Health Sciences, University of Rwanda, and University Teaching Hospital of Kigali, Kigali, Rwanda., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Givi Zhvania Pediatric Academic Clinic, Tbilisi State Medical University, Georgia., Elbracht M; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Mattern L; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Velmans C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Jacob M; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Peron A; Medical Genetics, Meyer Children's Hospital IRCCS, Firenze, Italy.; Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Università degli Studi di Firenze, Italy., Dias C; Department of Medical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, UK.; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Neural Stem Cell Biology Laboratory, The Francis Crick Institute, UK.; Department of Medical & Molecular Genetics, School of Basic and Medical Biosciences, Faculty of Life Sciences & Medicine, King's College London, UK., Nunes BC; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Vilella T; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Pinheiro IF; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Kim CA; Genetics Unit, Instituto da Criança, Universidade de São Paulo, São Paulo, Brazil., Melaragno MI; Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil., Weiland H; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Kaptain S; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Chwiałkowska K; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland.; IMAGENE.ME SA, Bialystok, Poland., Kwasniewski M; IMAGENE.ME SA, Bialystok, Poland.; Centre for Bioinformatics and Data Analysis, Medical University of Bialystok, Bialystok, Poland., Saad R; North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, Great Ormond Street, London, UK.; Department of Genetics and Genomic Medicine, UCL Institute of Child Health, London UK., Wiethoff S; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, NRW, Germany., Goel H; School of Medicine and Public Health, University of Newcastle, Callaghan NSW, Australia., Tang C; Kabuki Syndrome Foundation, Northbrook, IL, USA., Hau A; Hunter Genetics, Hunter New England Health Service, Newcastle, Australia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Panek P; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Suh J; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Braun F; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, NRW, Germany., Gomy I; Department of Genetics, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Sao Paulo, Brazil., Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Heinrich-Heine-University, Medical Faculty, Düsseldorf, Germany., Ekure E; Department of Paediatrics, College of Medicine, University of Lagos, Lagos, Nigeria., Bergant G; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana., Graziano C; Medical Genetics Unit, Ausl Romagna, Cesena, Italy., Gaboon N; Medical Genetics Center, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Medical Genetics Department, Armed Forces College of Medicine, Cairo, Egypt., Fiesco-Roa M; Programa de Maestría y Doctorado en Ciencias Médicas, Odontológicas y de la Salud, Universidad Nacional Autónoma de México, México City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, México City, Mexico., Spinelli AM; Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy., Wilpert NM; NeuroCure Cluster of Excellence; Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-10117 Berlin, Germany.; Department of Neuropediatrics, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, D-13353 Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, BIH Biomedical Innovation Academy, BIH Charité Junior Clinician Scientist Program, D-10117 Berlin, German., Phowthongkum P; Excellence Center for Genomics and Precision Medicine, King Chulalongkorn Memorial Hospital, the Thai Red Cross Society, Bangkok, Thailand.; Division of Medical Genetics and Genomics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., Güzel N; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Bitar R; Pediatric Gastroenterology Department, Sheikh Khalifa Medical City, Abu Dhabi, United Arab Emirates.; Khalifa University, Abu Dhabi, United Arab Emirates., Tzschach A; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rodriguez-Palmero A; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Spain., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Rudnik-Schöneborn S; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Contreras-Capetillo SN; Universidad Autonoma de Yucatan (University Autonomus of Yucatan), Merida, Yucatan, Mexico., Oberlack A; Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, School of Medicine and Health, Munich, Germany., Samango-Sprouse C; Department of Pediatrics, George Washington University, 2121 I St. NW, Washington D.C. 2005.; Department of Human and Molecular Genetics, Florida International University, 11200 SW 8th Street, AHC2 Miami, Florida 22199.; Department of Research, The Focus Foundation, 820 W. Central Ave. #190, Davidsonville, MD 21035., Sadeghin T; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Olaya M; Department of Research, The Focus Foundation, 2772 Rutland Road P.O. Box 190, Davidsonville, MD 21035., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Borovikov A; Research Centre for Medical Genetics (RCMG), Moscow, Russia., Schnabel F; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Heuft L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Herrmann V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Kumar S; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Komlosi K; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed K; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Kalantari S; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Sirchia F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Martinez-Monseny AF; Department of Clinical Genetics, SJD Barcelona Children's Hospital, Esplugues del Llobregat (Barcelona), Spain., Höller M; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Toutouna L; Institute of Human Genetics, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Mohamed A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lasa-Aranzasti A; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain.; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Catalunya, Spain., Sayer JA; Biosciences Institute, Newcastle University, Central Parkway, Newcastle upon Tyne, UK.; Renal Services, The Newcastle Upon Tyne NHS Hospitals Foundation Trust, Freeman Road, Newcastle Upon Tyne, UK., Ehmke N; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Danyel M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Sczakiel H; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Schwartzmann S; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Boschann F; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Zhao M; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Adam R; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Einicke L; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Horn D; Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Humboldt-Universität zu Berlin and Berlin Institute of Health, Berlin, Germany., Chew KS; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Kam CC; Department of Paediatrics, Faculty of Medicine, University Malaya, 59100 Kuala Lumpur, Malaysia., Karakoyun M; Ege University, Faculty of Medicine, Department of Pediatric Gastroenterology Hepatology and Nutrition, Izmir, Turkey., Pode-Shakked B; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; The faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel., Eliyahu A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Israel.; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.; The Mina and Everard Goodman Faculty of Life Sciences, Bar-Ilan University, Ramat Gan, Israel., Rock R; Metabolic Diseases Clinic, Edmond and Lily Safra Children's Hospital, Sheba Medical Center.; National Newborn Screening Program, Public Health Services, Ministry of Health Tel-Hashomer, Israel., Carrion T; Rare diseases Unit, Pediatric Department, Hospital Universitari Son Espases, Palma de Mallorca, Spain., Chorin O; The Institute of Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Israel., Zarate YA; Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences and Arkansas Children's Hospital, Little Rock, AR, USA.; Division of Genetics and Metabolism, University of Kentucky, Lexington, KY, USA., Conti MM; Project Director AI for Health at Foundation 29, Foundation 29, Madrid, Spain., Karakaya M; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Tung ML; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Chandra B; University of Iowa Roy J and Lucille A Carver College of Medicine, Iowa City, IA 52242, USA.; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City, IA 52242, USA., Bouman A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lumaka A; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo., Wasif N; Institute of Human Genetics, University of Ulm, Ulm, Baden-Württemberg, Germany.; University Hospital Schleswig-Holstein, Campus Kiel, Kiel, Germany., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China.; Autism Research Center, Peking University Health Science Center, Beijing 100191, China., Niehues T; Department of Pediatrics, Helios Klinik Krefeld, Krefeld 47805, Germany., Schmidt A; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Roth RR; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Wieczorek D; Institute of Human Genetics, Medical Faculty, University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Germany., Hu P; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Waikel RL; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Ledgister Hanchard SE; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Elmakkawy G; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Krüger E; Insitute for Medical Biochemistry and Molecular Biology, University of Greifswald, Greifswald, Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Bézieau S; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, F-44000 Nantes, France.; Nantes Université, CHU Nantes, Service de Génétique Médicale, F-44000 Nantes, France., Arlt A; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, Brussels, Belgium., Marbach F; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dupuis L; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Mendoza-Londono R; Department to Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital of Sick Children, Toronto, Ontario, Canada., Houge SD; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Weis D; Institue for Medical Genetics, Kepler University Hospital, Linz, Austria., Chung BH; Hong Kong Genome Institute, Hong Kong, China.; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Mak CCY; Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSoM), 34010, Istanbul, Türkiye., Elcioglu N; Department of Pediatric Genetics, Marmara University School of Medicine, Istanbul, Türkiye., Aykut A; Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Türkiye., Şimşek-Kiper PÖ; Hacettepe University Faculty of Medicine, Department of Pediatric Genetics, Ankara, Türkiye., Bögershausen N; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Wollnik B; Institut of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany.; German Center for Cardiovascular Research (DZHK), Partner Site Göttingen, Göttingen, Germany., Bentzen HB; Centre for Medical Ethics, Faculty of Medicine, University of Oslo, Oslo, Norway.; Cancer Registry of Norway, Norwegian Institute of Public Health, Oslo, Norway., Kurth I; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, NRW, Germany., Netzer C; Institute of Human Genetics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, NRW, Germany., Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Devriendt K; Center for Human Genetics, KU Leuven, Leuven, Belgium., Gripp KW; Division of Medical Genetics, A.I. du Pont Hospital for Children/Nemours, USA, Wilmington, Delaware, USA., Mücke M; Institute for Digitalization and General Medicine, University Hospital RWTH Aachen, Aachen, NRW, Germany.; Centre for Rare Diseases Aachen (ZSEA), University Hospital RWTH Aachen, Aachen, NRW, Germany., Verloes A; Department of Clinical Genetics, Robert-Debré Hospital, Paris, France., Schaaf CP; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany., Nellåker C; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, Nuffield Department of Women's & Reproductive Health, University of Oxford, Oxford, UK., Solomon BD; Medical Genomics Unit, Medical Genetics Branch, National Human Genome Research Institute, Bethesda, USA., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, NRW, Germany., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Alexandria, Egypt., Lyon GJ; Department of Human Genetics, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; George A. Jervis Clinic, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York, United States of America.; Biology PhD Program, The Graduate Center, The City University of New York, New York, United States of America., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University of Bonn, Bonn, NRW, Germany.
Publikováno v:
Research square [Res Sq] 2024 Jun 10. Date of Electronic Publication: 2024 Jun 10.
Autor:
Anelo OM; Department of Pathology, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA., Ma J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Neary JL; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Koo SC; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Inaba H; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Pinto SN; Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Nguyen NT; Pediatric Oncology Center, Vietnam National Children's Hospital, Hanoi, Vietnam., Hoang TN; Pathology Department, Vietnam National Children's Hospital, Hanoi, Vietnam., Bui LN; Pediatric Oncology Center, Vietnam National Children's Hospital, Hanoi, Vietnam., Klco JM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Gheorghe G; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Jun; Vol. 63 (6), pp. e23251.
Autor:
Lee JC; Department of Pathology, Neuropathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Tran QT; Department of Pathology, Neuropathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., McGee RB; Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Perrino MR; Department of Oncology, Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Upadhyaya SA; Department of Pediatrics and Communicable Diseases, C. S. Mott Children's Hospital, University of Michigan, Ann Arbor, Michigan, USA., Hanzlik EM; Department of Pediatrics, Division of Neuro-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Pytel N; Department of Pediatrics, Division of Neuro-Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Carroll AJ; Department of Genetics, University of Alabama, Birmingham, Alabama, USA., Orisme W; Department of Pathology, Neuropathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Eldomery M; Department of Pathology, Molecular Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Wang L; Department of Pathology, Molecular Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Blackburn PR; Department of Pathology, Molecular Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Furtado LV; Department of Pathology, Molecular Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Viaene AN; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Luo M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Kalish JM; Division of Human Genetics and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Genetics and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pinto SN; Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Bag AK; Department of Diagnostic Imaging, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Orr BA; Department of Pathology, Neuropathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Publikováno v:
Neuropathology and applied neurobiology [Neuropathol Appl Neurobiol] 2024 Apr; Vol. 50 (2), pp. e12971.
Autor:
Blackburn PR; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., McGee RB; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Mostafavi R; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Carroll AJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Mikhail FM; Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama, USA., Armstrong GT; Department of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Furtado LV; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Chiang J; Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA., Wheeler DA; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Carey SS; Department of Hospitalist Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Nichols KE; Division of Cancer Predisposition, St Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Upadhyaya SA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.; Department of Pediatrics, University of Tennessee Health Science Center, Memphis, Tennessee, USA.
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2024 Jan; Vol. 63 (1), pp. e23195. Date of Electronic Publication: 2023 Aug 07.
Autor:
Kirkham JK; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Liu YC; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Foy SG; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Ma J; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Gheorghe G; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Furtado LV; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Popescu MI; Department of Pediatric Hematology and Oncology, James H. Quillen College of Medicine, East Tennessee State University, Johnson City, Tennessee, USA., Klco JM; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Karol SE; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2023 Oct; Vol. 62 (10), pp. 617-623. Date of Electronic Publication: 2023 Jun 07.
Autor:
Blackburn PR; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Douglass DP; Department of Pediatrics, Hematology/Oncology Section, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Ramakrishnaiah RH; Department of Pediatric Radiology, Arkansas Children's Hospital, Little Rock, Arkansas, USA., Montgomery CO; Department of Orthopedics, Arkansas Children's Hospital, Little Rock, Arkansas, USA., Shi Z; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Wheeler DA; Department of Computational Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Koo SC; Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Publikováno v:
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2023 Oct; Vol. 62 (10), pp. 611-616. Date of Electronic Publication: 2023 May 03.
Autor:
Blackburn PR, Ebstein F, Hsieh TC, Motta M, Radio FC, Herkert JC, Rinne T, Thiffault I, Rapp M, Alders M, Maas S, Gerard B, Smol T, Vincent-Delorme C, Cogné B, Isidor B, Vincent M, Bachmann-Gagescu R, Rauch A, Joset P, Ferrero GB, Ciolfi A, Husson T, Guerrot AM, Bacino C, Macmurdo C, Thompson SS, Rosenfeld JA, Faivre L, Mau-Them FT, Deb W, Vignard V, Agrawal PB, Madden JA, Goldenberg A, Lecoquierre F, Zech M, Prokisch H, Necpál J, Jech R, Winkelmann J, Koprušáková MT, Konstantopoulou V, Younce JR, Shinawi M, Mighton C, Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van der Schoot V, Brunet T, Bußmann C, Mignot C, Courtin T, Ravelli C, Keren B, Ziegler A, Hasadsri L, Pichurin PN, Klee EW, Grand K, Sanchez-Lara PA, Krüger E, Bézieau S, Klinkhammer H, Krawitz PM, Eichler EE, Tartaglia M, Küry S, Wang T
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Jun 16. Date of Electronic Publication: 2023 Jun 16.
Autor:
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100359.