Evaluation of Exome Sequencing Criteria for Hospital Stewardship and Insurance Authorization at a Pediatric Hospital.

Autor: Wittowski CL; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington., Clowes Candadai S; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; Patient-Centered Laboratory Utilization Guidance Services (PLUGS) (Clowes Candadai, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington., Perrone ME; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; The Department of Laboratory Medicine, University of Washington, Seattle (Perrone, Gallego, Dickerson)., Gallego DF; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; The Department of Laboratory Medicine, University of Washington, Seattle (Perrone, Gallego, Dickerson)., Conta JH; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; Patient-Centered Laboratory Utilization Guidance Services (PLUGS) (Clowes Candadai, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington., Dickerson JA; From the Department of Laboratories (Wittowski, Clowes Candadai, Perrone, Gallego, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; Patient-Centered Laboratory Utilization Guidance Services (PLUGS) (Clowes Candadai, Conta, Dickerson), Seattle Children's Hospital, Seattle, Washington.; The Department of Laboratory Medicine, University of Washington, Seattle (Perrone, Gallego, Dickerson).

Publikováno v: Archives of pathology & laboratory medicine [Arch Pathol Lab Med] 2022 Jan 01; Vol. 146 (1), pp. 107-111.

Billing Demystification and the Impact on Uninsured and Underinsured Individuals Seeking Lab Testing.

Autor: Dickerson JA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA., Conta JH; Department of Laboratories, Seattle Children's Hospital, Seattle, WA.

Publikováno v: The journal of applied laboratory medicine [J Appl Lab Med] 2021 Jan 12; Vol. 6 (1), pp. 327-329.

Are We Ready for Newborn Genome Screening?

Autor: Dickerson JA; Seattle Children's Hospital, Department of Laboratories, Seattle, WA. jane.dickerson@seattlechildrens.org., Conta JH; Seattle Children's Hospital, Department of Laboratories, Seattle, WA.

Publikováno v: Clinical chemistry [Clin Chem] 2017 Mar; Vol. 63 (3), pp. 794.

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Autor: Koolen DA; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Linda K; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Beunders G; Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands., Veenstra-Knol HE; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Conta JH; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, USA., Fortuna AM; Unidade de Genética Médica, Centro de Genética Médica Dr Jacinto Magalhães, Centro Hospitalar do Porto, Porto, Portugal., Gillessen-Kaesbach G; Institut für Humangenetik, University of Luebeck, Luebeck, Germany., Dugan S; Genetics Department, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN, USA., Halbach S; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Abdul-Rahman OA; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA., Winesett HM; St Luke's Pediatric Associates, Duluth, MN, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University, New York, NY, USA., Dalton M; Counties Manukau District Health Board, South Auckland, New Zealand., Dimova PS; Epilepsy Center, St Ivan Rilski University Hospital, Sofia, Bulgaria., Mattina T; Department of Pediatrics, Medical Genetics University of Catania, Catania, Italy., Prescott K; Clinical Genetics, Yorkshire Regional Genetics Service, Leeds, UK., Zhang HZ; Department of genetics, Yale University School of Medicine, New Haven, CT, USA., Saal HM; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Hehir-Kwa JY; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Willemsen MH; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Ockeloen CW; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Jongmans MC; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Van der Aa N; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium., Failla P; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy., Barone C; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy., Avola E; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy., Brooks AS; Department of Clinical Genetics, Erasmus MC, Sophia Children's Hospital, Rotterdam, The Netherlands., Kant SG; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Firth HV; Department of Medical Genetics, Cambridge University Addenbrooke's Hospital, Cambridge, UK., Õunap K; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia., Bird LM; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA., Masser-Frye D; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA., Friedman JR; Departments of Neurosciences and Pediatrics, University of California San Diego, and Divisions of Neurology and Genetics, Rady Children's Hospital San Diego, San Diego, CA, USA., Sokunbi MA; Nacogdoches Pediatrics, Nacogdoches, TX, USA., Dixit A; Clinical Genetics, Nottingham City Hospital, Nottingham, UK., Splitt M; Northern Genetic Service, Institute of Genetic Medicine, Newcastle upon Tyne, UK., Kukolich MK; Clinical Genetics, Cook Children's Hospital, Fort Worth, TX, USA., McGaughran J; Genetic Health Queensland, Royal Brisbane and Women's Hospital and School of Medicine, University of Queensland, Brisbane, Queensland, Australia., Coe BP; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA., Flórez J; Department of Physiology and Pharmacology, University of Cantabria, Cantabria, Spain., Nadif Kasri N; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands., Thompson EM; South Australian Clinical Genetics Service, Women's and Children's Hospital; and Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia., Gecz J; School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, South Australia, Australia., Romano C; Pediatrics and Medical Genetics, I.R.C.C.S. Associazione Oasi Maria Santissima, Troina, Italy., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., de Vries BB; Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 May; Vol. 24 (5), pp. 652-9. Date of Electronic Publication: 2015 Aug 26.

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.

Autor: Wallace SE; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States., Conta JH; Department of Laboratories, Seattle Children's Hospital, Seattle, WA, United States., Winder TL; Prevention Genetics, Marshfield, WI, United States., Willer T; Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Eskuri JM; Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Haas R; Department of Neurosciences University of California, San Diego, La Jolla, CA, United States; Department of Pediatrics, University of California, San Diego, La Jolla, CA, United States; Rady Children's Hospital San Diego, CA, United States., Patterson K; Department of Pathology, Seattle Children's Hospital, Seattle, WA, United States., Campbell KP; Howard Hughes Medical Institute and Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States; Department of Neurology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States; Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Moore SA; Department of Pathology, Roy J. and Lucille A. Carver College of Medicine, University of Iowa, Iowa City, IA, United States., Gospe SM Jr; Department of Neurology, University of Washington, Seattle, WA, United States; Department of Pediatrics, University of Washington, Seattle, WA, United States; Seattle Children's Hospital, Seattle, WA, United States. Electronic address: sgospe@uw.edu.

Publikováno v: Neuromuscular disorders : NMD [Neuromuscul Disord] 2014 Apr; Vol. 24 (4), pp. 312-20. Date of Electronic Publication: 2014 Jan 11.