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Autor:
Bonilla-Velez J; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA. Electronic address: Juliana.Bonilla-Velez@seattlechildrens.org., Whitlock KB; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA., Ganti S; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA., Zenner K; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA., Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Jensen DM; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA., Pham MM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Mitchell RM; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, Indiana University, Indianapolis, IN, USA., Dobyns W; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Bly RA; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA., Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA, USA; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, WA, USA., Dahl JP; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA., Perkins JA; Division of Pediatric Otolaryngology, Seattle Children's Hospital, Seattle, WA, USA; Department of Otolaryngology-Head and Neck Surgery, University of Washington School of Medicine, Seattle, WA, USA; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: jonathan.perkins@seattlechildrens.org.
Publikováno v:
International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2021 Dec; Vol. 151, pp. 110869. Date of Electronic Publication: 2021 Aug 05.
Autor:
Liu S; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Kiyama T; Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA; National Eye Institute, NIH, Bethesda, MD 20892, USA., Dave M; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., McNamara HK; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Zhao W; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA., Stafford JM; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Descostes N; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Lee P; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA., Caraffi SG; Struttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Ivanovski I; Struttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Institute of Medical Genetics, University of Zürich, Zürich, Switzerland., Errichiello E; Dipartimento di Medicina Molecolare, Università di Pavia, Pavia, Italy; IRCCS Mondino Foundation, Pavia, Italy., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Schwabachanlage 10, 91054 Erlangen, Germany; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Zuffardi O; Dipartimento di Medicina Molecolare, Università di Pavia, Pavia, Italy., Schneider M; Carle Physicians Group, Section of Neurology, St. Christopher's Hospital for Children, Urbana, IL, USA., Papavasiliou AS; Neurology, IASO Children's Hospital, Athens, Greece., Perry MS; Comprehensive Epilepsy Program, Jane and John Justin Neuroscience Center, Cook Children's Medical Center, Fort Worth, TX 76104, USA., Humberson J; Division of Genetics, Department of Pediatrics, University of Virginia Children's Hospital, Charlottesville, VA, USA., Cho MT; GeneDx, Inc., Gaithersburg, MD, USA., Weber A; Liverpool Women's Hospital, Liverpool, UK., Swale A; Liverpool Women's Hospital, Liverpool, UK; Manchester Centre for Genomic Medicine, Manchester, UK., Badea TC; National Eye Institute, NIH, Bethesda, MD 20892, USA; Research and Development Institute, Transilvania University of Brasov, School of Medicine, Brasov, Romania., Mao CA; Ruiz Department of Ophthalmology and Visual Science, McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth), Houston, TX 77030, USA; National Eye Institute, NIH, Bethesda, MD 20892, USA., Garavelli L; Struttura Semplice Dipartimentale di Genetica Medica, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA; Department of Pediatrics (Genetic Medicine), University of Washington, Seattle, WA, USA., Reinberg D; Department of Biochemistry and Molecular Pharmacology, New York University Langone School of Medicine, New York, NY 10016, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address: danny.reinberg@nyumc.org.
Publikováno v:
Molecular cell [Mol Cell] 2021 Nov 18; Vol. 81 (22), pp. 4663-4676.e8. Date of Electronic Publication: 2021 Oct 11.
Autor:
Zhao EJ; Division of Hematology, University of British Columbia, Vancouver, BC, Canada; Department of Medicine, Vancouver General Hospital, Vancouver, BC, Canada., Cheng CV; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada; Department of Medicine, Vancouver General Hospital, Vancouver, BC, Canada., Mattman A; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada; Department of Medicine, Vancouver General Hospital, Vancouver, BC, Canada; Department of Pathology and Laboratory Medicine, St Paul's Hospital, Vancouver, BC, Canada., Chen LYC; Division of Hematology, University of British Columbia, Vancouver, BC, Canada; Centre for Health Education Scholarship, University of British Columbia, Vancouver, BC, Canada; Department of Medicine, Vancouver General Hospital, Vancouver, BC, Canada. Electronic address: lchen2@bccancer.bc.ca.
Publikováno v:
The Lancet. Haematology [Lancet Haematol] 2021 May; Vol. 8 (5), pp. e365-e375.
Autor:
Zenner K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Division of Pediatric Otolaryngology, Department of Head and Neck Surgery, University of Washington, Seattle, Washington, USA., Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Jensen DM; Center For Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA., Timms AE; Center For Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA., Shivaram G; Department of Radiology, University of Washington, Seattle, USA., Bly R; Division of Pediatric Otolaryngology, Department of Head and Neck Surgery, University of Washington, Seattle, Washington, USA., Ganti S; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, Washington, USA., Whitlock KB; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, Washington, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division Genetic Medicine, University of Washington, Seattle, Washington, USA., Perkins J; Division of Pediatric Otolaryngology, Department of Head and Neck Surgery, University of Washington, Seattle, Washington, USA., Bennett JT; Center For Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, Division Genetic Medicine, University of Washington, Seattle, Washington, USA.
Publikováno v:
JCI insight [JCI Insight] 2019 Nov 01; Vol. 4 (21). Date of Electronic Publication: 2019 Nov 01.
Autor:
Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Timms AE; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA., Thomson Z; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Bennett JT; Center for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Rosenberg AB; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA., Roco CM; Department of Bioengineering, University of Washington, Seattle, WA 98105, USA., Hirano M; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA., Abidi F; Greenwood Genetic Center, Greenwood, SC 29646, USA., Haldipur P; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Cheng CV; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Collins S; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Park K; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Zeiger J; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA., Overmann LM; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital Research Center, Riyadh, 11211, Saudi Arabia., Biesecker LG; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892 USA., Braddock SR; Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Cathey S; Greenwood Genetic Center, Greenwood, SC 29646, USA., Cho MT; GeneDx, Gaithersburg, MD 20877, USA., Chung BHY; Department of Pediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong, China., Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR, 72202, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Schwartz CE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA., Hopkin RJ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, OH 45229, USA., Krantz ID; The Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, 19104, USA; Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104 USA., Ladda RL; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA; Departments of Pathology, Milton S Hershey Medical Center, Hershey, PA 17033, USA., Leppig KA; Genetic Services, Kaiser Permanente Washington, Seattle, WA 98112, USA., McGillivray BC; Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, BC V6H 3N1, Canada., Sell S; Department of Pediatrics, Milton S Hershey Medical Center, Hershey, PA 17033, USA., Wusik K; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; University of Washington Center for Mendelian Genomics, Seattle, WA 98195, USA., Gerrelli D; University College London Institute of Child Health, London WC1N 1EH, UK., Lisgo SN; Institute of Genetic Medicine, Newcastle University, International Centre for life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK., Seelig G; Department of Electrical Engineering, University of Washington, Seattle, WA 98105, USA; Paul G. Allen School of Computer Science & Engineering, University of Washington, Seattle, WA 98195, USA., Ishak GE; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Radiology, University of Washington, Seattle, WA 98195, USA., Barkovich AJ; Departments of Radiology, Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, San Francisco, CA 94143, USA., Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco, Fresno, CA, 93701, USA., Glass IA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Millen KJ; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Doherty D; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98101, USA; Department of Pediatrics, University of Washington, Seattle, WA 98105, USA; Department of Neurology, University of Washington, Seattle, WA 98105, USA. Electronic address: wbd@uw.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 606-615. Date of Electronic Publication: 2019 Aug 29.