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Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort

• Authors : Maggi, Jordi; Koller, Samuel; Feil, Silke

Subjects: Ophthalmology Clinic; Institute of Medical Genetics; Institute of Medical Molecular Genetics

• Source: Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in

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Implementing Expanded Prenatal Genetic Testing: Should Parents Have Access to Any and All Fetal Genetic Information?

• Authors : Bayefsky, Michelle J.¹; Berkman, Benjamin E.^2,3

• Source: American Journal of Bioethics. Feb 2022, Vol. 22 Issue 2, p4-22. 19p. 2 Charts.

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Advertisement by medical facilities as an opportunity route of APOE genetic testing in Japan: a website analysis

• Authors : Sato, Kenichiro; Niimi, Yoshiki; Ihara, Ryoko ...

Subjects: Genetics (clinical); Public Health, Environmental and Occupational Health; Epidemiology

• Source: Journal of Community Genetics ; ISSN 1868-6001

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Stigma associated with genetic testing for rare diseases—causes and recommendations

• Authors : Baynam, Gareth; Gomez, Roy; Jain, Ritu

Subjects: Genetics (clinical); Genetics; Molecular Medicine

• Source: Frontiers in Genetics ; volume 15 ; ISSN 1664-8021

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Development of preimplantation genetic testing for monogenic reference materials using next-generation sequencing

• Authors : Zhao, Weihua; Song, Yanyan; Huang, Chuanfeng ...

Subjects: Genetics (clinical); Genetics

• Source: BMC Medical Genomics ; volume 17, issue 1 ; ISSN 1755-8794

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Optimizing non-invasive preimplantation genetic testing: investigating culture conditions, sample collection, and IVF treatment for improved non-invasive PGT-A results

• Authors : Chow, Judy F. C.; Lam, Kevin K. W.; Cheng, Heidi H. Y.

Subjects: Genetics (clinical); Developmental Biology; Obstetrics and Gynecology

• Source: Journal of Assisted Reproduction and Genetics ; ISSN 1058-0468 1573-7330

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Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis

• Authors : Zagaynova, Valeria A.; Nasykhova, Yulia A.; Tonyan, Ziravard N.

Subjects: Genetics (clinical); Genetics; Molecular Medicine

• Source: Frontiers in Genetics ; volume 15 ; ISSN 1664-8021

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Experiences of genetic testing among individuals with retinitis pigmentosa

• Authors : Emily Krauss; Jared Macher; Jenina Capasso

Subjects: Male; Ophthalmology; Pediatrics, Perinatology and Child Health

• Source: Ophthalmic Genetics. 43:633-640

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A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder: A case study

• Authors : Chen, Songchang; Wang, Li; Chen, Luting

Subjects: Cell Biology; Genetics (clinical); Molecular Biology

• Source: Genes & Diseases ; volume 11, issue 4, page 101014 ; ISSN 2352-3042

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Oncologist-led germline genetic testing for uveal melanoma

• Authors : Brittany Gillies; Hatem Krema; Anning Chao

Subjects: Ophthalmology; Pediatrics, Perinatology and Child Health; Genetics (clinical)

• Source: Ophthalmic Genetics. 44:253-261

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