Published on 03/21/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease.
Christopher J Record et al. Brain 2024 -
Experiences and concerns of parents of children with a 16p11.2 deletion or duplication diagnosis: a reflexive thematic analysis.
Charlotte E Butter et al. BMC Psychol 2024 12(1) 137 -
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)
Cancer Genomics
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Real-World Data and Clinical Implications of Next-Generation Sequencing (NGS)-Based Analysis in Metastatic Breast Cancer Patients.
Fabio Canino et al. Int J Mol Sci 2024 25(5) -
Targeted next-generation sequencing of 491 lung cancers in clinical practice: Implications for future detection strategy and targeted therapy.
Xiao-Dan Liu et al. Heliyon 2024 10(6) e27591 -
Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer.
Romain Boidot et al. Eur J Cancer 2024 202113978
Hereditary Cancer
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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 -
Family Recall of and Response to Germline Pathologic Variants Found on Paired Tumor-Germline Sequencing in Pediatric Oncology.
Michelle F Jacobs et al. JCO Precis Oncol 2024 8e2300539 -
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 -
Cascade screening in HBOC and Lynch syndrome: guidelines and procedures in a UK centre.
D Gareth Evans et al. Fam Cancer 2024
Chronic Disease
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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 -
Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis.
Connolly G Steigerwald et al. J Genet Couns 2024
Ethics/Policy/Law
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Mainstreaming genomic testing: pre-test counselling and informed consent.
Michaela Cormack et al. Med J Aust 2024 -
On the ethics of informed consent in genetic data collected before 1997.
Martin Zieger et al. Nature 2024 627(8003) 271
Practice
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Genetics providers' perspectives on the use of digital tools in clinical practice.
Whiwon Lee et al. Genet Med 2024 101122 -
Navigating the Genetic Frontier for the Integration of Genetic Services into African Healthcare Systems: A scoping review.
Karen Kengne Kamga et al. Res Sq 2024
Heart, Lung, Blood and Sleep Diseases
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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 -
Current state of gene therapy in sickle cell disease.
Mei San Tang et al. Vox Sang 2024 -
HFE genotypes, haemochromatosis diagnosis and clinical outcomes at age 80 years: a prospective cohort study in the UK Biobank.
Mitchell R Lucas et al. BMJ Open 2024 14(3) e081926 -
An International Learning Collaborative Phase 2 Trial for Haploidentical Bone Marrow Transplant in Sickle Cell Disease.
Adetola A Kassim et al. Blood 2024
Pharmacogenomics
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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 -
Frequencies of CYP2C19 and CYP2D6 gene variants in a German inpatient sample with mood and anxiety disorders.
Maike Scherf-Clavel et al. World J Biol Psychiatry 2024 1-11