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Academic Journal

Perspectives of carriers of X-linked retinal diseases on genetic testing and gene therapy: A global survey.

  • Authors : Gocuk SA; Department of Optometry and Vision Sciences, University of Melbourne, Melbourne, Victoria, Australia.; Ophthalmology, Department of Surgery, University of Melbourne, Melbourne, Victoria, Australia.

Subjects: Genetic Testing* ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/genetics ; Retinal Diseases*/Retinal Diseases*/Retinal Diseases*/therapy

  • Source: Clinical genetics [Clin Genet] 2024 Feb; Vol. 105 (2), pp. 150-158. Date of Electronic Publication: 2023 Oct 20.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

  • Authors : Giardina E; Genomic Medicine Laboratory UILDM, IRCCS Fondazione Santa Lucia, Rome, Italy.; Department of Biomedicine & Prevention, Tor Vergata University of Rome, Rome, Italy.

Subjects: Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/genetics ; Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/Muscular Dystrophy, Facioscapulohumeral*/diagnosis ; Genetic Testing*/Genetic Testing*/Genetic Testing*/standards

  • Source: Clinical genetics [Clin Genet] 2024 Jul; Vol. 106 (1), pp. 13-26. Date of Electronic Publication: 2024 Apr 29.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Parental request for familial carrier testing in early childhood: The genetic counseling perspective.

  • Authors : Southwick SV; Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota, USA.; Department of Obstetrics and Gynecology, Johns Hopkins University, Baltimore, Maryland, USA.

Subjects: Genetic Counseling* ; Genetic Testing*; Adolescent

  • Source: Clinical genetics [Clin Genet] 2024 Mar; Vol. 105 (3), pp. 262-272. Date of Electronic Publication: 2023 Nov 23.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.

  • Authors : Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.; Thomas-Wilson A

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods; Humans

  • Source: Clinical genetics [Clin Genet] 2023 Aug; Vol. 104 (2), pp. 210-225. Date of Electronic Publication: 2023 Jun 19.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods; Humans ; Ontario/Ontario/Ontario/epidemiology

  • Source: Clinical genetics [Clin Genet] 2023 Mar; Vol. 103 (3), pp. 288-300. Date of Electronic Publication: 2022 Nov 29.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Out-of-pocket and private pay in clinical genetic testing: A scoping review.

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*economics ; Health Expenditures/Health Expenditures/Health Expenditures/*statistics & numerical data; Costs and Cost Analysis

  • Source: Clinical genetics [Clin Genet] 2021 Nov; Vol. 100 (5), pp. 504-521. Date of Electronic Publication: 2021 Jun 21.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Diagnostic yield of genetic testing in 324 infants with hypotonia.

  • Authors : Sharma S; Division of Neurology, Children's Mercy Hospital, Kansas City, Missouri, USA.; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia 19104, Pennsylvania, USA.

Subjects: Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease* ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Clinical genetics [Clin Genet] 2021 Dec; Vol. 100 (6), pp. 752-757. Date of Electronic Publication: 2021 Sep 16.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.

  • Authors : Davidov B; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.; Levon A

Subjects: Genetic Testing* ; Jews*/Jews*/Jews*/genetics; Ethnicity

  • Source: Clinical genetics [Clin Genet] 2022 May; Vol. 101 (5-6), pp. 517-529. Date of Electronic Publication: 2022 Mar 29.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

The choice not to undergo genetic testing for Huntington disease: Results from the PHAROS study.

Subjects: Choice Behavior* ; Genetic Testing* ; Health Knowledge, Attitudes, Practice*

  • Source: Clinical genetics [Clin Genet] 2019 Jul; Vol. 96 (1), pp. 28-34. Date of Electronic Publication: 2019 May 15.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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Academic Journal

Familial pancreatic adenocarcinoma: A retrospective analysis of germline genetic testing in a French multicentre cohort.

  • Authors : Schwartz M; Service d'Oncologie Digestive, Hôpital Beaujon (AP-HP - Faculté Paris VII Denis Diderot), Clichy, France.; Service de Génétique, Hôpital Bichat (AP-HP), Paris, France.

Subjects: Genetic Testing*; Carcinoma/Carcinoma/Carcinoma/*genetics ; Germ Cells/Germ Cells/Germ Cells/*metabolism Pancreatic carcinoma, familial

  • Source: Clinical genetics [Clin Genet] 2019 Dec; Vol. 96 (6), pp. 579-584. Date of Electronic Publication: 2019 Sep 03.Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004

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