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Public Health Genomics and Precision Health Knowledge Base (v9.0)
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Precision Health Database|Search|Public Health Genomics and Precision Health Knowledge Base (PHGKB)
Last data update: Mar 28, 2024
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Genetic testing[original query]>>Original Studies[Product Type]
The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?
Natalia Campacci et al. Front Psychol 2024 151306388
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Family health beliefs and cascade genetic testing in Asian families with hereditary cancer risk: "Okay, now what?".
Leena Tran et al. J Genet Couns 2024
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Ready for polygenic risk scores? An analysis of regulation of preimplantation genetic testing in European countries.
M Siermann et al. Hum Reprod 2024
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Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.
Maria T Papadopoulou et al. Epilepsia Open 2024
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Tissue-Based Genomic Testing in Prostate Cancer: 10-Year Analysis of National Trends on the Use of Prolaris, Decipher, ProMark, and Oncotype DX.
Eugenio Bologna et al. Clin Pract 2024 14(2) 508-520
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A New Tool to Identify Pediatric Patients with Atypical Diabetes Associated with Gene Polymorphisms.
Sophie Welsch et al. Diabetes Metab J 2024
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Clinical pharmacists' knowledge, attitude, perception, and beliefs about the role of pharmacogenetic testing for genes polymorphisms when prescribing mercaptopurine.
Norah O Abanmy et al. Saudi Pharm J 2024 32(4) 102022
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Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3)
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Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Connolly G Steigerwald et al. J Genet Couns 2024
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Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.
Alexandra Capasso et al. J Genet Couns 2024
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024
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Delivering Genetic Test Results for Parkinson Disease: A Qualitative Approach to Provider Experiences in the PD GENEration Study.
Mandy Miller et al. Neurol Clin Pract 2024 14(2) e200282
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Diagnostic yield from cardiac gene testing for inherited cardiac conditions and re-evaluation of pre-ACMG variants of uncertain significance.
Jane Murphy et al. Ir J Med Sci 2024
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Retrospective genetic testing (Traceback) in women with early-onset breast cancer after revised national guidelines: a clinical implementation study.
Annelie Augustinsson et al. Breast Cancer Res Treat 2024
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Genetics providers' perspectives on the use of digital tools in clinical practice.
Whiwon Lee et al. Genet Med 2024 101122
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Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients.
Oana Raluca Voinescu et al. Int J Mol Sci 2024 25(5)
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Evaluation of Nanopore Sequencing on Polar Bodies for Routine Pre-Implantation Genetic Testing for Aneuploidy.
Anna Oberle et al. Clin Chem 2024
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TARGET: A Randomized, Noninferiority Trial of a Pretest, Patient-Driven Genetic Education Webtool Versus Genetic Counseling for Prostate Cancer Germline Testing.
Stacy Loeb et al. JCO Precis Oncol 2024 8e2300552
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Delivery of hereditary cancer genetics services to patients newly diagnosed with ovarian and endometrial cancers at three gynecologic oncology clinics in the USA, Brazil, and Mexico.
Erica M Bednar et al. Int J Gynecol Cancer 2024
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Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
Alexis Ceecee Britten-Jones et al. Sci Rep 2024 14(1) 5403
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The Role of Demographic and Clinical Factors in Germline Mutation Testing for Patients with Primary Hyperparathyroidism.
Patrick T Hangge et al. Ann Surg Oncol 2024
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Integration and usability of a digital cancer risk stratification tool to optimize identification of patients at risk for hereditary cancers: A pilot study.
Emily M Webster et al. Gynecol Oncol 2024 1831-6
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Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.
Xin Wang et al. Clin Genitourin Cancer 2024 102052
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Disparities in Genetic Testing for Neurologic Disorders.
Aaron Baldwin et al. Neurology 2024 102(6) e209161
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Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Juan Pablo Kaski et al. Eur Heart J 2024
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Early Onset Inherited Peripheral Neuropathies: The Experience of a Specialized Referral Center for Genetic Diagnosis Achievement.
Alessandro Geroldi et al. Pediatr Neurol 2024 1544-8
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The majority of parents of children undergoing genetic testing report preference for earlier genetic counseling appointments.
Cami Cochrane et al. J Genet Couns 2024
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Modes of responsibility in disclosing cancer genetic test results to relatives: An analysis of Swiss and Korean narrative data.
Monica Aceti et al. Patient Educ Couns 2024 123108202
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A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.
Shahariar Mohammed Fahim et al. Per Med 2024
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Page last reviewed:
Feb 1, 2024
Page last updated:
Mar 28, 2024
Content source:
Public Health Genomics Branch in the Division of Blood Disorders and Public Health Genomics
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National Center on Birth Defects and Developmental Disabilities
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