Published on 03/28/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children.
Danya F Vears et al. Twin Res Hum Genet 2024 1-8 -
An AI-based approach driven by genotypes and phenotypes to uplift the diagnostic yield of genetic diseases.
S Zucca et al. Hum Genet 2024 -
Molecular autopsy for fetal structural anomaly: diagnostic and clinical utility of multidisciplinary team approach.
E Wall et al. Ultrasound Obstet Gynecol 2024
Cancer Genomics
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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 -
Is Oncotype DX testing informative for breast cancers with low ER expression? A retrospective review from a biomarker testing referral center.
John Loggie et al. Breast 2024 75103715
Hereditary Cancer
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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 -
Low Rates of Colorectal Cancer Screening in Our Patients' First-Degree Relatives: Are We Failing Them?
Anyelin Almanzar et al. Dis Colon Rectum 2024 -
Codesign of Lynch Choices : Using implementation science to create a clinically deliverable patient decision support website to transform cancer genetics care pathways.
Kelly Kohut et al. Psychooncology 2024 33(3) e6330 -
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 -
The dynamic buffering of social support on depressive symptoms and cancer worries in patients seeking cancer genetic counseling.
Sally Ho et al. J Cancer Surviv 2024
Chronic Disease
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The effectiveness of psychiatric genetic counseling training: An analysis of 13 international workshops.
Tiera Mack et al. Am J Med Genet B Neuropsychiatr Genet 2024 e32978 -
Spondyloarthritis in first-degree relatives and spouses of patients with inflammatory bowel disease: A nationwide population-based cohort study from Sweden.
Sarita Shrestha et al. J Crohns Colitis 2024 -
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
Ethics/Policy/Law
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Mapping ethical, legal, and social implications (ELSI) of preimplantation genetic testing (PGT).
Ido Alon et al. J Assist Reprod Genet 2024
Practice
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A Review of the Cost-Effectiveness Evidence for FDA-Approved Cell and Gene Therapies.
Sumaya Abuloha et al. Hum Gene Ther 2024 -
Assessing Students' Knowledge and Attitudes Regarding the Risks and Prevention of Consanguineous Marriage: A Cross-Sectional Online Survey.
Ammar Abdulrahman Jairoun et al. J Multidiscip Healthc 2024 171251-1263
Heart, Lung, Blood and Sleep Diseases
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Lipoprotein(a): An important piece of the ASCVD risk factor puzzle across diverse populations.
Nicole Ciffone et al. Am Heart J Plus 2024 38100350 -
Physical signs and atherosclerotic cardiovascular disease in familial hypercholesterolemia: the HELLAS-FH Registry.
Loukianos S Rallidis et al. J Cardiovasc Med (Hagerstown) 2024 -
A scoping review exploring cure definitions and language for inherited hemoglobinopathies.
Marilyn S Baffoe-Bonnie et al. Genet Med Open 2024 2
Newborn Screening
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Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation.
Allyson Corbo et al. Res Dev Disabil 2024 148104719 -
Newborn Screening: Current Practice and Our Journey over the Last 60 Years.
Jing Cao et al. J Appl Lab Med 2024
Pharmacogenomics
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Estimation of the benefit from pre-emptive genotyping based on the nationwide cohort data in South Korea.
Ki Young Huh et al. Clin Transl Sci 2024 17(3) e13772
Reproductive Health
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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