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Genetic counselors outside of the genetics clinic: Roles, practices, and ethico-legal implications in light of lagging legal recognition across Canada.

Autor: Rojas SK; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Adam S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada., Elliott AM; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; BC Children's Hospital Research Institute, Vancouver, British Columbia, Canada.; Women's Health Research Institute, Vancouver, British Columbia, Canada., Zawati MH; McGill Centre of Genomics and Policy, Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Quebec, Canada.

Publikováno v: Journal of genetic counseling [J Genet Couns] 2024 Jul 01. Date of Electronic Publication: 2024 Jul 01.

The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience.

Autor: Ediae GU; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Lemire G; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Chisholm C; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Eaton A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Huang L; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.; Department of Pathology and Laboratory Medicine, University of Ottawa, Ottawa, Ontario, Canada., Gillespie M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Sawyer SL; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Regional Genetics Program, Children's Hospital of Eastern Ontario Ottawa, Ottawa, Ontario, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 338-347. Date of Electronic Publication: 2022 Nov 04.

p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.

Autor: Kernohan KD; Newborn Screening Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., McBride A; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Dyack S; Department of Pediatrics, Dalhousie University and IWK Health Centre, Halifax, Nova Scotia, Canada.

Publikováno v: Clinical genetics [Clin Genet] 2019 Nov; Vol. 96 (5), pp. 449-455. Date of Electronic Publication: 2019 Aug 13.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Autor: Cheng H; Baylor Genetics, Houston, TX, 77021, USA., Dharmadhikari AV; Baylor Genetics, Houston, TX, 77021, USA., Varland S; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway., Ma N; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Domingo D; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia., Kleyner R; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Rope AF; Department of Medical Genetics, Kaiser Permanente Northwest, Portland, OR 97227, USA., Yoon M; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA., Stray-Pedersen A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo University Hospital, N-0424 Oslo, and Institute of Clinical Medicine, University of Oslo, N-0318 Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Crews SR; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Eldomery MK; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Lewis AM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Texas Children's Hospital and Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Conboy E; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, MN 55905, USA., Xia F; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Walkiewicz M; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; The National Institute of Allergy and Infectious Disease, The National Institutes of Health, Bethesda, MD 20892, USA., Longoni M; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Harvard Medical School, Boston, MA 02114, USA., High FA; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Pediatrics, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Surgery, Boston Children's Hospital, Boston, MA 02115, USA., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Mancini GMS; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., den Hollander N; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center, Leiden, 2333, The Netherlands., Naidu S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Mahida S; Kennedy Krieger Institute, 801 North Broadway Baltimore, MD 21205, USA., Palmer EE; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW 2031, Australia., Murray L; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia., Lim D; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Mindelsohn Way, Birmingham B15 2TG, UK., Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL 33155, USA., Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK., Giusto S; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Stracuzzi E; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Romano C; Oasi Research Institute - Istituto di Ricovero e Cura a Carattere Scientifico, Troina 94018, Italy., Beighley JS; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Bernier RA; Department of Psychiatry, University of Washington, Seattle WA, 98195, USA., Küry S; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Nizon M; Department of Medical Genetics, Centre Hospitalier Universitaire, Nantes 44093, France., Corbett MA; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Shaw M; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Gardner A; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia., Barnett C; Paediatric and Reproductive Genetics, South Australian Clinical Genetics Service, SA Pathology (at Women's and Children's Hospital), Adelaide, SA 5006, Australia., Armstrong R; East Anglian Medical Genetics Service, Clinical Genetics, Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK., Kassahn KS; Department of Genetics and Molecular Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, SA 5006, Australia; School of Biological Sciences, University of Adelaide, Adelaide, SA 5000, Australia., Van Dijck A; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Vandeweyer G; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Schieving J; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Jongmans MJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., de Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen 6500HB, The Netherlands., Kerr B; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9PL, UK; Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester M13 9PL, UK., Rojas SK; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Person R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Willaert R; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp 2000, Belgium., Yang Y; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Wu JC; Stanford Cardiovascular Institute, Stanford University School of Medicine, Stanford, CA 94305, USA; Division of Cardiology, Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA; Institute for Stem Cell Biology and Regenerative Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center of Baylor College of Medicine, Houston, TX 77030, USA., Arnesen T; Department of Biomedicine, University of Bergen, N-5020 Bergen, Norway; Department of Surgery, Haukeland University Hospital, N-5021 Bergen, Norway; Department of Molecular Biology, University of Bergen, N-5020 Bergen, Norway., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Chung WK; Departments of Pediatrics and Medicine, Columbia University Medical Center, New York, NY 10032, USA., Gecz J; School of Biological Sciences, Faculty of Genes and Evolution, the University of Adelaide, Adelaide, SA 5000, Australia; Adelaide Medical School and Robinson Research Institute, the University of Adelaide, Adelaide, SA 5000, Australia; Healthy Mothers, Babies and Children, South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia., Stessman HAF; Department of Pharmacology, Creighton University Medical School, Omaha, NE, 68178, USA., Meng L; Baylor Genetics, Houston, TX, 77021, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: lmeng@bcm.edu., Lyon GJ; Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address: gholsonjlyon@gmail.com.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2018 May 03; Vol. 102 (5), pp. 985-994. Date of Electronic Publication: 2018 Apr 12.