부산대학교 도서관

Guan, Qiaoning ; Balciuniene, Jorune ; Cao, Kajia ; Fan, Zhiqian ; Biswas, Sawona ; Wilkens, Alisha ; Gallo, Daniel J ; Bedoukian, Emma ; Tarpinian, Jennifer ; Jayaraman, Pushkala ; Sarmady, Mahdi ; Dulik, Matthew ; Santani, Avni ; Spinner, Nancy ; Abou Tayoun, Ahmad N ; Krantz, Ian D ; Conlin, Laura K ; Luo, Minjie

In Genetics in Medicine December 2018 20(12):1600-1608

Rentas S; Department of Pathology, Duke University School of Medicine, Durham, North Carolina, USA.; Rajagopalan R; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Ayazseven T; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Sarmady M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Raible SE; Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Krantz ID; Division of Medical Genetics, Cohen Children's Medical Center, Northwell Health, New York, New York, USA.; Department of Pediatrics, Zucker School of Medicine, Hofstra University, New York, New York, USA.; Abou Tayoun AN; Dubai Health Genomic Medicine Center, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Tshering KC; DiStefano MT; Oza AM; Ajuyah P; Webb R; Edoh E; Broeren E; Ratliff J; Gitau V; Paris K; Aburyyan A; Alexander J; Albano V; Bai D; Booth KTA; Buonfiglio PI; Charfeddine C; Dalamón V; Castillo ID; Moreno-Pelayo MA; Duzkale H; Dorshorst B; Faridi R; Kenna M; Lewis MA; Luo M; Lu Y; Mkaouar R; Matsunaga T; Nara K; Pandya A; Redfield S; Roux I; Schimmenti LA; Schrauwen I; Shaaban S; Shen J; Vona B; Smith RJ; Rehm HL; Azaiez H; Abou Tayoun AN; Amr SS

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE; In Process

Chekroun I; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Almarri MA; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Mokrab Y; Research Branch, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; College of Health Sciences, Qatar University, Doha, Qatar.; Uddin M; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Center for Applied and Translational Genomics, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Alkhnbashi OS; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Center for Applied and Translational Genomics, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Najmabadi H; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Kahrizi K; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.; Kariminejad-Najmabadi Pathology and Genetics Center, Tehran, Iran.; Fakhro KA; Research Branch, Sidra Medicine, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medicine-Qatar, Doha, Qatar.; Almontashiri NAM; College of Applied Medical Sciences and Center for Genetics and Inherited Diseases, Taibah University, Madinah, Kingdom of Saudi Arabia.; Ali FR; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Özbek U; Rare and Undiagnosed Disease Platform, IBG-Izmir Biomedicine and Genome Center, Izmir, Türkiye.; Reversade B; Laboratory of Human Genetics and Therapeutics, Biological and Environmental Sciences and Engineering Division, King Abdullah University of Science and Technology, Thuwal, Kingdom of Saudi Arabia.; Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Kingdom of Saudi Arabia.; Lifera Omics, Riyadh, Kingdom of Saudi Arabia.; Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE.; Dubai Health, Dubai, UAE.; Abou Tayoun AN; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE. ahmad.tayoun@dubaihealth.ae.; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE. ahmad.tayoun@dubaihealth.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai Health, Dubai, UAE. ahmad.tayoun@dubaihealth.ae.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Xiang J; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China.; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.; Sun X; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.; Song N; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China.; Ramaswamy S; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abou Tayoun AN; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Peng Z; College of Life Sciences, University of Chinese Academy of Sciences, Beijing, 100049, China. pengzhiyu@bgi.com.; BGI Genomics, BGI-Shenzhen, Shenzhen, 518083, China. pengzhiyu@bgi.com.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Ambrosino E; Science Division, World Health Organization, Geneva, Switzerland. ambrosinoe@who.int.; Abou Tayoun AN; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, Dubai, United Arab Emirates.; Abramowicz M; Genetic Medicine and Development, Faculty of Medicine, University of Geneva, Geneva, Switzerland.; Zilfalil BA; Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.; Boughtwood T; Australian Genomics, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Hamdi Y; Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur of Tunis, University of Tunis El Manar, Tunis, Tunisia.; Hubbard T; ELIXIR, Wellcome Genome Campus, Hinxton, UK.; Department of Medical & Molecular Genetics, King's College London, London, UK.; Kato K; Department of Biomedical Ethics and Public Policy, graduate School of Medicine, Osaka University, Suita, Japan.; Lopes-Cendes I; Department of Translational Medicine, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Majumder PP; John C. Martin Center for Liver Research and Innovations, Kolkata, India.; Indian Statistical Institute, Kolkata, India.; Mascalzoni D; Department of Public Health and Caring Science, Uppsala University, Uppsala, Switzerland.; Institute for Biomedicine, Eurac Research, Bolzano, Italy.; Ndiaye R; Division of Human Genetics, Faculty of Medicine, Pharmacy and Odonto-Stomatology, University Cheikh Anta DIOP, Dakar, Senegal.; Ramsay M; Sydney Brenner Institute for Molecular Bioscience, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, Santiago, Chile.; Shotelersuk V; Center of Excellence for Medical Genomics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.; Taylor S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Reeder JC; Science Division, World Health Organization, Geneva, Switzerland.; Ross AL; Science Division, World Health Organization, Geneva, Switzerland.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; In Process

Abou Tayoun AN; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.

Publisher: American Medical Association Country of Publication: United States NLM ID: 101729235 Publication Model: Electronic Cited Medium: Internet ISSN: 2574-3805 (Electronic) Linking ISSN: 25743805 NLM ISO Abbreviation: JAMA Netw Open Subsets: MEDLINE

Abou Tayoun AN; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. ahmad.tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. ahmad.tayoun@ajch.ae.; Dubai Academic Health Corporation, Dubai, United Arab Emirates. ahmad.tayoun@ajch.ae.; Alsheikh-Ali A; Dubai Academic Health Corporation, Dubai, United Arab Emirates.; Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.

Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE

Abou Tayoun AN; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. ahmad.tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. ahmad.tayoun@ajch.ae.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 100962779 Publication Model: Print Cited Medium: Internet ISSN: 1471-0064 (Electronic) Linking ISSN: 14710056 NLM ISO Abbreviation: Nat Rev Genet Subsets: MEDLINE

Liao WW; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.; Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA.; Asri M; Genomics Institute, University of California, Santa Cruz, CA, USA.; Ebler J; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Doerr D; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Haukness M; Genomics Institute, University of California, Santa Cruz, CA, USA.; Hickey G; Genomics Institute, University of California, Santa Cruz, CA, USA.; Lu S; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.; Lucas JK; Genomics Institute, University of California, Santa Cruz, CA, USA.; Monlong J; Genomics Institute, University of California, Santa Cruz, CA, USA.; Abel HJ; Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.; Buonaiuto S; Institute of Genetics and Biophysics, National Research Council, Naples, Italy.; Chang XH; Genomics Institute, University of California, Santa Cruz, CA, USA.; Cheng H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Chu J; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Colonna V; Institute of Genetics and Biophysics, National Research Council, Naples, Italy.; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Eizenga JM; Genomics Institute, University of California, Santa Cruz, CA, USA.; Feng X; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.; Fischer C; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Fulton RS; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Garg S; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark.; Groza C; Quantitative Life Sciences, McGill University, Montréal, Québec, Canada.; Guarracino A; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Genomics Research Centre, Human Technopole, Milan, Italy.; Harvey WT; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Heumos S; Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.; Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany.; Howe K; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Jain M; Northeastern University, Boston, MA, USA.; Lu TY; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.; Markello C; Genomics Institute, University of California, Santa Cruz, CA, USA.; Martin FJ; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Mitchell MW; Coriell Institute for Medical Research, Camden, NJ, USA.; Munson KM; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Mwaniki MN; Department of Computer Science, University of Pisa, Pisa, Italy.; Novak AM; Genomics Institute, University of California, Santa Cruz, CA, USA.; Olsen HE; Genomics Institute, University of California, Santa Cruz, CA, USA.; Pesout T; Genomics Institute, University of California, Santa Cruz, CA, USA.; Porubsky D; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Prins P; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Sibbesen JA; Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark.; Sirén J; Genomics Institute, University of California, Santa Cruz, CA, USA.; Tomlinson C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Villani F; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.; Vollger MR; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.; Antonacci-Fulton LL; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Baid G; Google, Mountain View, CA, USA.; Baker CA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Belyaeva A; Google, Mountain View, CA, USA.; Billis K; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Carroll A; Google, Mountain View, CA, USA.; Chang PC; Google, Mountain View, CA, USA.; Cody S; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Cook DE; Google, Mountain View, CA, USA.; Cook-Deegan RM; Barrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA.; Cornejo OE; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.; Diekhans M; Genomics Institute, University of California, Santa Cruz, CA, USA.; Ebert P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Core Unit Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Fairley S; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Fedrigo O; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Felsenfeld AL; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.; Formenti G; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Frankish A; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Gao Y; Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Garrison NA; Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.; Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Giron CG; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Green RE; Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.; Dovetail Genomics, Scotts Valley, CA, USA.; Haggerty L; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Hoekzema K; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Hourlier T; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Ji HP; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Koenig BA; Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA.; Kolesnikov A; Google, Mountain View, CA, USA.; Korbel JO; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.; Kordosky J; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Koren S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Lee H; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Lewis AP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Magalhães H; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; Marco-Sola S; Computer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.; Departament d'Arquitectura de Computadors i Sistemes Operatius, Universitat Autònoma de Barcelona, Barcelona, Spain.; Marijon P; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.; McCartney A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; McDaniel J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Mountcastle J; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Nattestad M; Google, Mountain View, CA, USA.; Nurk S; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Olson ND; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Popejoy AB; Department of Public Health Sciences, University of California, Davis, CA, USA.; Puiu D; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Rautiainen M; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Regier AA; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Rhie A; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Sacco S; Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.; Sanders AD; Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.; Schneider VA; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Schultz BI; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.; Shafin K; Google, Mountain View, CA, USA.; Smith MW; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.; Sofia HJ; National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.; Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.; Thibaud-Nissen F; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.; Tricomi FF; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Wagner J; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Walenz B; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Wood JMD; Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.; Zimin AV; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.; Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.; Bourque G; Department of Human Genetics, McGill University, Montréal, Québec, Canada.; Canadian Center for Computational Genomics, McGill University, Montréal, Québec, Canada.; Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan.; Chaisson MJP; Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.; Flicek P; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.; Phillippy AM; Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Zook JM; Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.; Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Haussler D; Genomics Institute, University of California, Santa Cruz, CA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Wang T; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.; Jarvis ED; Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA.; Miga KH; Genomics Institute, University of California, Santa Cruz, CA, USA.; Garrison E; Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu.; Marschall T; Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.; Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.; Hall IM; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.; Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.; Li H; Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu.; Paten B; Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsarhan A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Nugud A; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Sarfraz F; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Janbaz H; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Rabea F; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Wafadari D; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Maazmi M; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Rizk R; Adolescent Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alloub Z; Neurodevelopment Section, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Elbashir H; Neuroscience Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Babiker MOE; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Chencheri N; Neurology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlBanna A; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Sultan M; Mental Health Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; El Bitar M; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Kherani S; ENT Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Thalange N; Endocrinology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alshryda S; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Di Donato R; Cardiology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Tzivinikos C; Gastroenterology Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Majid I; Orthopedics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Freeman AF; National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA.; Gonzalez C; Immune Deficiency Cellular Therapy Program, National Cancer Institute, NIH, Bethesda, MD, USA.; Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.; Hamdan H; Pulmonology and Sleep Medicine Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlAwadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; AlKhayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates.; Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Niazi R; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Fanning EA; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris, 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, Paris, France.; IGBMC, CNRS UMR 7104/INSERM U964/Université de Strasbourg, Illkirch, France.; Sarmady M; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.; Abou Tayoun AN; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Abou Tayoun AN; The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.; Pesaran T; Ambry Genetics, Aliso Viejo, California.; DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Oza A; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.; Harrison SM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

Oza AM; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.; DiStefano MT; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Hemphill SE; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Cushman BJ; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Grant AR; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Siegert RK; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Shen J; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.; Chapin A; ARUP Laboratories, Salt Lake City, Utah.; Boczek NJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Schimmenti LA; Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular Biology, Mayo Clinic, Rochester, Minnesota.; Murry JB; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Nara K; Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Kenna M; Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa.; The Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, Iowa.; Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa Hospital and Clinics, Iowa City, Iowa.; Griffith A; Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD), NIH, Bethesda, Maryland.; Avraham KB; Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Tel Aviv, Israel.; Kremer H; Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts.; The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Department of Pathology, Brigham & Women's Hospital, Boston, Massachusetts.; Abou Tayoun AN; The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat

Amr SS; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA.; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, MA.; Murphy E; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA.; Duffy E; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA.; Niazi R; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Balciuniene J; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA.; Luo M; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.; Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA.; Department of Pathology, Brigham & Women's Hospital and Harvard Medical School, Boston, MA.; The Broad Institute of MIT and Harvard, Cambridge, MA.; Abou Tayoun AN; Division of Genomic Diagnostics, The Children's Hospital of Philadelphia, Philadelphia, PA; aboutayoua@chop.edu.; The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem

Gomez RL; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Woods LM; Wellcome-MRC Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Center, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Oncology, University of Cambridge, Cambridge, United Kingdom.; Ramachandran R; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Abou Tayoun AN; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates.; Philpott A; Wellcome-MRC Cambridge Stem Cell Institute, Jeffrey Cheah Biomedical Center, Cambridge Biomedical Campus, Cambridge, United Kingdom.; Department of Oncology, University of Cambridge, Cambridge, United Kingdom.; Ali FR; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.

Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101630250 Publication Model: eCollection Cited Medium: Print ISSN: 2296-634X (Print) Linking ISSN: 2296634X NLM ISO Abbreviation: Front Cell Dev Biol Subsets: PubMed not MEDLINE

Halabi N; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Ramaswamy S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; El Naofal M; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Taylor A; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yaslam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jain R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alfalasi R; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shenbagam S; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Bitzan M; Kidney Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Yavuz L; General Pediatrics Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abulhoul H; Department of Metabolic Medicine, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Shankar S; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Janjua D; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Jadhav D; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Maazmi MM; Critical Care Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abuhammour W; Infectious Diseases Department, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Alsheikh-Ali A; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Dubai Health Authority, Dubai, United Arab Emirates.; Al Awadhi M; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Al Khayat A; Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Abou Tayoun AN; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE

Wilcox EH; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Sarmady M; Spark Therapeutics, Philadelphia, PA.; Wulf B; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA.; Wright MW; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Biesecker LG; Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.; Abou Tayoun AN; Al Jalila Genomics Center, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Electronic address: Ahmad.Tayoun@ajch.ae.

Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Abou Tayoun AN; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and the Perelman School of Medicine at The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Spinner NB; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, and the Perelman School of Medicine at The University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Rehm HL; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, MA, USA.; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Green RC; The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Bianchi DW; Mother Infant Research Institute, Tufts Medical Center, Boston, MA, USA.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223 (Electronic) Linking ISSN: 01973851 NLM ISO Abbreviation: Prenat Diagn Subsets: MEDLINE

Abou Tayoun AN; Al Jalila Genomics Center, Al Jalila Children's Hospital, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates. Ahmad.Tayoun@ajch.ae.; Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; Department of Genomic Medicine, Weill Cornell Medical College, Doha, Qatar.; Alsheikh-Ali A; Dubai Health Authority, Dubai, United Arab Emirates.; College of Medicine, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates.; Alkuraya FS; Departement of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE