Genome Medicine

作者Leonie J. Lorenz; Joel Hellewell; Samuel T. Horsfield; Matthew J. Russell; Shrijana Shrestha; Andrew J. Pollard; Stephen D. Bentley; Stephanie W. Lo; Caroline Colijn; Nicholas J. Croucher; John A. Lees

作者单位1. European Bioinformatics Institute, Hinxton, UK; 2. School of Engineering Mathematics and Technology, Bristol, UK; 3. Institute of Biology, University of Neuchâtel, Neuchâtel, Switzerland; 4. Patan Academy of Health Sciences, Lalitpur, Nepal; 5. Oxford Vaccine Group, Department of Paediatrics, University of Oxford, Oxford, UK; 6. The Wellcome Trust Sanger Institute, Hinxton, UK; 7. Department of Medicine, University of Cambridge, Addenbrooke’s Hospital, Cambridge, UK; 8. Department of Mathematics, Simon Fraser University, Burnaby, Canada; 9. MRC Centre for Global Infectious Disease Analysis, Department of Infectious Disease Epidemiology, Imperial College London, London, UK

作者Francesco Mazzarotto; Özem Kalay; Elif Arslan; Valeria Cinquina; Rachel J. Buchan; Valeria Bertini; Esmé Cavanagh; Deniz Turgut; Mona Allouba; Alaa Afify; Sarah Halawa; Pantazis Theotokis; Gungor Budak; Francesca Girolami; Alessia Azzu; Petra Peldova; Nik Matthews; Dudley J. Pennell; Jiri Bonaventura; Iacopo Olivotto; Elisabetta Pelo; Marina Colombi; Milan Macek; Paul J. R. Barton; Yasmine Aguib; Magdi Yacoub; Marco Ritelli; Massimo Gennarelli; H. Serhat Tetikol; Roddy Walsh; James S. Ware; Amit Jain

作者单位1. Department of Molecular and Translational Medicine, Università degli Studi di Brescia, Brescia, Italy; 2. National Heart and Lung Institute, Imperial College London, London, UK; 3. Velsera Inc, Charlestown, USA; 4. Royal Brompton & Harefield Hospitals, Guy’s and St. Thomas’ NHS Foundation Trust, London, UK; 5. MRC Laboratory of Medical Sciences, Imperial College London, London, UK; 6. Aswan Heart Centre, Aswan, Egypt; 7. Meyer Children’s Hospital, IRCCS, Florence, Italy; 8. Cardiovascular Magnetic Resonance Unit, Royal Brompton Hospital, London, UK; 9. Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic; 10. Imperial BRC Genomics Facility, Imperial College London, London, UK; 11. Department of Cardiology, Second Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic; 12. Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy; 13. SOD Diagnostica Genetica, Azienda Ospedaliero Universitaria Careggi, Florence, Italy; 14. Genetics Unit, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia, Italy; 15. Bristol Myers Squibb, Cambridge, USA; 16. Cardiovascular and Genomics Research Institute, City St. George’s University of London, London, UK; 17. Department of Clinical and Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; 18. Hammersmith Hospital, Imperial College Healthcare NHS Trust, London, UK; 19. Meiosys Ltd, London, UK

作者Debora Tibbe; Christina Kiel; Olena Ielesicheva; Kerstin Robles de Maruri; Helia Mahboobi; Joschka Züghart; Hans-Hinrich Hönck; Christoph Meier; Fabiola Biasella; Marcela Legüe; María Francisca Lopez Avaria; Edward Blair; Tracy Lester; Benito Banos-Pinero; Jose S. Pulido; Adele Schneider; Rebecca Procopio; Chloe Quelin; Bailey J. Leal; Julian A. Martinez-Agosto; Stephanie A. Bottomley; Ágnes Till; Kinga Hadzsiev; Renata Szalai; Kathryn Nicole Weaver; Joel Fluss; Henri Margot; Berta Almoguera; Isabel Lorda-Sánchez; Lucía López-López; J. Austin Hamm; Himanshu Goel; Yasemin Alanay; Ozlem Akgun Doğan; Gulşah Şebnem Ozkose-Iyigel; Genevieve Baujat; Marion Lesieur-Sebellin; Sophie Rondeau; Katherine Schon; Joseph Christopher; Bertrand Isidor; Benjamin Cogne; Neena S. Agrawal; Ryan Dahlhauser; Yutaka Furuta; Rachel Rabin; John Pappas; Chirag Patel; Irma Järvelä; Merja Rauhala; Isabelle Schrauwen; Suzanne M. Leal; Siddharth Banka; Riya Tharakan; Céline Pebrel-Richard; Fanny Laffargue; Nelly Durand; Tristan Celse; Maja Hempel; Ilia Valentin; Andrea Gregorova; Lenka Noskova; Sara Baumgartner; Christa Überbacher; Kai Muru; Ülle Murumets; Stella Lilles; Katharina Steindl; Anita Rauch; Federica Ruscitti; Alain Verloes; Jonathan Levy; Joohyun Park; Tobias B. Haack; Ingrid Bader; Sophie Julia; Guillaume Banneau; Alison M. Muir; Davor Lessel; Hans-Jürgen Kreienkamp

作者单位1. Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 2. Institute of Human Genetics, University of Regensburg, Regensburg, Germany; 3. Institute of Human Genetics, University Hospital Salzburg, Salzburg, Austria; 4. Section in Developmental Neurogenomics, Human Genetics Branch, National Institute of Mental Health, National Institutes of Health (NIH), Bethesda, USA; 5. Hospital Dr. Exequiel González Cortés, Santiago, Chile; 6. Facultad de Ciencias Médicas, Universidad de Santiago de Chile (USACH), Santiago, Chile; 7. Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK; 8. Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, UK; 9. Retina Service, Wills Eye Hospital, Philadelphia, USA; 10. Department of Ophthalmology, Northwestern University, Feinberg School of Medicine, Chicago, USA; 11. Service de Génétique Clinique, CLAD Ouest, CHU Rennes, Hôpital Sud, Rennes, France; 12. Department of Human Genetics, University of California Los Angeles, Los Angeles, USA; 13. Department of Medical Genetics, Medical School, Clinical Centre, University of Pécs, Pécs, Hungary; 14. The Heart Institute and Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, USA; 15. Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, USA; 16. Child Neurology Unit, Subspecialties Service, Geneva University Children’s Hospital, Geneva, Switzerland; 17. Genetic Medicine Division, Diagnostics Department, University Hospitals of Geneva, Geneva, Switzerland; 18. Department of Genetics and Genomics, Fundacion Jimenez Diaz University Hospital, Health Research Institute-Fundacion Jimenez Diaz, Universidad Autonoma de Madrid (IIS-FJD, UAM), Madrid, Spain; 19. Center for Biomedical Network Research On Rare Diseases (CIBERER), Madrid, Spain; 20. Pediatric Genetics, Dolly Parton Children’s Hospital, Knoxville, USA; 21. General Genetics Service, Hunter Genetics, Waratah, Australia; 22. School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, Australia; 23. Division of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul, Türkiye; 24. Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), Acibadem University, Istanbul, Türkiye; 25. Department of Genome Studies, Health Sciences Institute, Acibadem University, Istanbul, Türkiye; 26. Department of Translational Medicine, Health Sciences Institute, Acibadem University, Istanbul, Türkiye; 27. Service de Médecine Génomique des Maladies Rares et Institut Imagine UMR-1163 Inserm, Université Paris Cité, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France; 28. East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; 29. Department of Genomic Medicine, University of Cambridge, Cambridge, UK; 30. Service de Génétique Médicale, CHU Nantes, Nantes Cedex 1, France; 31. L’Institut du Thorax, INSERM, CNRS, Université de Nantes, Nantes, France; 32. Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, USA; 33. Department of Pediatrics, New York University Grossman School of Medicine, New York, USA; 34. Genetic Health Queensland, Royal Brisbane & Women’s Hospital, Brisbane, Australia; 35. Faculty of Health, Medicine and Behavioural Sciences, The University of Queensland, Brisbane, Australia; 36. Department of Medical Genetics, University of Helsinki, Helsinki, Finland; 37. Disability Services, Wellbeing Services County of Kainuu, Kajaani, Finland; 38. Department of Translational Neurosciences, University of Arizona College of Medicine – Phoenix, Phoenix, USA; 39. Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Centre, New York, USA; 40. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; 41. Division of Evolution, Infection & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; 42. Service de Cytogénétique Médicale, UIC CYTMRR, CHU Clermont-Ferrand, Clermont-Ferrand, France; 43. Service de Génétique Médicale, CHU de Clermont Ferrand, Clermont Ferrand, France; 44. Service de Génétique, Génomique Et Procréation, CHU Grenoble Alpes, Grenoble, France; 45. Institute of Human Genetics, University Heidelberg, Heidelberg, Germany; 46. Department of Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic; 47. Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic; 48. Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria; 49. Institute for Human Genetics, Medical University Innsbruck, Innsbruck, Austria; 50. Institute of Clinical Medicine, University of Tartu, Tartu, Estonia; 51. Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; 52. Children’s Clinic, Department of General Paediatrics and Neurology, Tartu University Hospital, Tartu, Estonia; 53. Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland; 54. Service de Génétique Clinique, Robert Debré - APHP Nord - Université Paris Cité, ERN-ITHACA, Paris, France; 55. Service de Cytogénomique, Hôpital Robert-Debré, APHP, Paris, France; 56. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany; 57. Department of Clinical Genetics, CHU Toulouse, Toulouse, France; 58. GeneDx, LLC, Gaithersburg, USA; 59. Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany

作者Ana B. Nunez-Nescolarde; Yang Liao; Laura Perlaza-Jiménez; Mehran Piran; Zhengqi Cheng; Chris K. Barlow; Joel R. Steele; Deanna Deveson; Julie L. M. Moreau; Han-Chung Lee; Jinhua Li; Ralf B. Schittenhelm; Christine A. Wells; Wei Shi; David J. Nikolic-Paterson; Alexander N. Combes

作者单位1. Department of Anatomy and Developmental Biology, Development and Stem Cells Program, Monash Biomedicine Discovery Institute, Monash University, Clayton, Australia; 2. Department of Biochemistry and Molecular Biology, Cancer Program, Monash Biomedicine Discovery Institute, Monash University, Clayton, Australia; 3. Monash Bioinformatics Platform, Monash University, Clayton, Australia; 4. Department of Anatomy and Physiology, Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, Australia; 5. Monash Proteomics and Metabolomics Facility, Monash University, Clayton, Australia; 6. Department of Nephrology, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, Guangzhou, China; 7. Department of Nephrology, Monash Health and Monash University Centre for Inflammatory Diseases, Monash Medical Centre, Clayton, Australia

作者Dongmiao Zhang; Yijun Ding; Wenqing Kang; Xueping Zhu; Zheng Cao; Yangfang Li; Jidong Lai; Jinxing Feng; Xiaoyun Wang; Guoqiang Hou; Yanyan Wang; Xianghong Li; Yang Wang; Xiao Liang; Linhui Hao; Peicen Zou; Juntao Li; Ruiqi Xiao; Hengliang Wang; Chao Pan; Yajuan Wang

作者单位1. Department of Neonatology, Capital Center for Children’s Health, Capital Medical University, Capital Institute of Pediatrics, Beijing, China; 2. Department of Neonatology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China; 3. Children’s Hospital Affiliated to Zhengzhou University, Henan Children’s Hospital, Zhengzhou Children’s Hospital, Zhengzhou, China; 4. Children’s Hospital of Soochow University, Suzhou, China; 5. Department of Laboratory Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital, Beijing, China; 6. Center of Clinical Mass Spectrometry, Beijing Obstetrics and Gynecology Hospital, Capital Medical University. Beijing Maternal and Child Health Care Hospital, Beijing, China; 7. Department of Neonatology, Children’s Hospital of Kunming, Kunming, China; 8. Department of Neonatology, Women and Children’s Hospital, School of Medicine, Xiamen University, Xiamen, China; 9. Xiamen Key Laboratory of Perinatal-Neonatal Infection, Xiamen, China; 10. Department of Neonatology, Shenzhen Children’s Hospital, Shenzhen, China; 11. Inner Mongolia Maternity and Child Health Care Hospital, Hohhot, China; 12. Changzhi Maternal and Child Health Care Hospital, Changzhi, China; 13. Xinghua City People’s Hospital, Xinghua, China; 14. The Affiliated Hospital of Qingdao University, Qingdao, China; 15. Department of Pediatrics, the First Affiliated Hospital of Anhui Medical University, Anhui, China; 16. Academy of Military Medical Sciences, Beijing, China; 17. Capital Institute of Pediatrics, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China

作者Tianyuan Lu; Lily N. Stalter; Kate V. Lauer; Bret M. Hanlon; Wenmin Zhang; Luke M. Funk

作者单位1. Department of Population Health Sciences, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, USA; 2. Department of Biostatistics and Medical Informatics, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, USA; 3. Center for Precision Medicine, University of Wisconsin-Madison, Madison, USA; 4. Center for Genomic Science Innovation, University of Wisconsin-Madison, Madison, USA; 5. Center for Demography of Health and Aging, University of Wisconsin-Madison, Madison, USA; 6. Department of Surgery, School of Medicine and Public Health, University of Wisconsin-Madison, Madison, USA; 7. Regeneron Genetics Center, Tarrytown, USA; 8. Department of Surgery, William S. Middleton VA, Madison, USA

作者Olga Zolotareva; Karen Legler; Olga Tsoy; Anna Esteve; Alexey Sergushichev; Vladimir Sukhov; Jan Baumbach; Kathrin Eylmann; Minyue Qi; Malik Alawi; Stefan Kommoss; Barbara Schmalfeldt; Leticia Oliveira-Ferrer

作者单位1. Institute for Computational Systems Biomedicine, University of Hamburg, Hamburg, Germany; 2. Institute of Clinical Molecular Biology (IKMB), Kiel University and University Medical Center Schleswig-Holstein, Kiel, Germany; 3. Data Science in Systems Biology, TUM School of Life Sciences, Technical University of Munich, Freising, Germany; 4. Department of Gynecology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 5. Computer Science Department, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; 6. Medical Oncology Service, Catalan Institute of Oncology (ICO), B-ARGO/CARE Program, Germans Trias i Pujol Research Institute (IGTP), Barcelona, Spain; 7. Department of Pathology and Immunology, Washington University in St. Louis School of Medicine, St. Louis, USA; 8. Computational BioMedicine Lab, University of Southern Denmark, Odense, Denmark; 9. Bioinformatics Core, University Medical Center Hamburg-Eppendorf, Hamburg, Germany; 10. Department of Gynecology and Obstetrics, University Hospital Tuebingen, Tuebingen, Germany; 11. Department of Gynecology and Obstetrics, Diak Klinikum Schwaebisch Hall, Schwaebisch Hall, Germany

作者Mariano A. Molina; Martina De Simoni; Norbert Moldovan; Florent Mouliere; Daniel W. Hagey

作者单位1. Department of Laboratory Medicine, Karolinska Institutet, ANA Futura, Huddinge, Sweden; 2. Department of Cellular Therapy and Allogeneic Stem Cell Transplantation (CAST), Karolinska University Hospital, Huddinge, Sweden; 3. Department of Pathology, Vrije Universiteit Amsterdam, Amsterdam UMC Location VUmc, Amsterdam, the Netherlands; 4. Faculty of Medicine, VU University Amsterdam, Amsterdam, The Netherlands; 5. Department of Medical Oncology, Erasmus MC, Rotterdam, The Netherlands; 6. Cancer Research UK National Biomarker Centre, University of Manchester, Manchester, UK

作者Lara G. Merino; Gwladys Revêchon; Santhilal Subhash; Fabiana Stefani; Daniel Whisenant; Marianna Skipitari; Quentin Giraud; Lars Muhl; Giuseppe Mocci; Johan Björkegren; Piotr Machtel; Liqun He; Christer Betsholtz; Maria Eriksson

作者单位1. Department of Medicine Huddinge, Huddinge, Sweden; 2. Department of Biosciences and Bioengineering, Indian Institute of Technology Jammu, Jammu, India; 3. Department of Clinical Medicine, Centre for Cancer Biomarkers (CCBIO), University of Bergen, Bergen, Norway

作者Kendra K. Maass; Pitithat Puranachot; Stefanie Volz; Paulina S. Schad; Agnes M.E. Finster; Tom T. Fischer; Barbara C. Jones; Kathrin Schramm; Sophie C. Henneken; Nike Simon; Sophia H. Montigel; Tatjana Wedig; Nathalie Schwarz; Cecilia Zuliani; Petra Fiesel; Christopher Previti; Gnanaprakash Balasubramanian; Florian Iser; Jochen Meyer; Cornelis M. van Tilburg; Till Milde; Olaf Witt; Corinne Rossi; Monika Sparber-Sauer; Stefanie Zimmermann; Thomas Lehrnbecher; Melchior Lauten; Martin Sill; Natalie Jäger; Robert J. Autry; Paul A. Northcott; Felix Sahm; David T.W. Jones; Stefan M. Pfister; Benedikt Brors; Kristian W. Pajtler

作者单位1. Department of Pediatric Hematology and Oncology, Faculty of Medicine, Heidelberg University, Heidelberg University Hospital, Heidelberg, Germany; 2. Pediatric Neurooncology , Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), National Center for Tumor Diseases (NCT), Heidelberg, Germany; 3. Princess Srisavangavadhana Faculty of Medicine, Chulabhorn Royal Academy, Bangkok, Thailand; 4. Applied Bioinformatics, German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), National Center for Tumor Diseases (NCT), Heidelberg, Germany; 5. Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany; 6. Pediatric Glioma Research, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), National Center for Tumor Diseases (NCT), Heidelberg, Germany; 7. Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), Heidelberg, Germany; 8. Clinical Cooperation Unit Neuropathology, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ) German Cancer Consortium (DKTK), Heidelberg, Germany; 9. Core Facility Omics IT and Data Management , German Cancer Research Center (DKFZ), Heidelberg, Germany; 10. Clinical Cooperation Unit Pediatric Oncology, Hopp Children’s Cancer Center Heidelberg (KiTZ), German Cancer Research Center (DKFZ), German Consortium for Translational Cancer Research (DKTK), National Center for Tumor Diseases (NCT), Heidelberg, Germany; 11. Department of Pediatrics and Adolescent Medicine, University Hospital Jena, Friedrich Schiller University Jena, Comprehensive Cancer Center Central Germany (CCCG), Jena, Germany; 12. Center for Pediatric, Adolescent and Women’s Medicine, Pediatric Oncology, Hematology, Immunology , Municipal Hospital of the State Capital Stuttgart (gKAöR), Olgahospital, Stuttgart Cancer Center, Stuttgart, Germany; 13. Department of Pediatric Hematology and Oncology, University Children’s Hospital Tübingen, Tübingen, Germany; 14. Department of Pediatrics, Division of Hematology, Oncology and Hemostaseology, Goethe University Frankfurt, Frankfurt am Main, Germany; 15. Pediatric Hematology and Oncology, University of Lübeck, Lübeck, Germany; 16. Center of Excellence in Neuro-Oncology Sciences (CENOS), St. Jude Children’s Research Hospital, Memphis, USA; 17. Department of Developmental Neurobiology, St. Jude Children’s Research Hospital, Memphis, USA; 18. Department of Neuropathology, Heidelberg University Hospital, Heidelberg, Germany; 19. Faculty of Medicine, Faculty of Biosciences, Heidelberg University, Heidelberg, Germany