Published on 06/20/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Social media use by patients with hypermobile Ehlers-Danlos syndrome.
Colin M E Halverson et al. Mol Genet Genomic Med 2024 12(6) e2467 -
Implications of Provider Specialty, Test Type, and Demographic Factors on Genetic Testing Outcomes for Patients with Autism Spectrum Disorder.
Caitlin N Harrington et al. J Autism Dev Disord 2024
Cancer Genomics
-
5-Year Real-World Outcomes With Frontline Pembrolizumab Monotherapy in PD-L1 Expression ≥ 50% Advanced NSCLC.
Vamsidhar Velcheti et al. Clin Lung Cancer 2024 -
Development of a Longitudinal Prostate Cancer Transcriptomic and Clinical Data Linkage.
Michael S Leapman et al. JAMA Netw Open 2024 7(6) e2417274 -
The REMAR (Rhein-Main-Registry) real-world study: prospective evaluation of the 21-gene breast recurrence score® assay in addition to Ki-67 for adjuvant treatment decisions in early-stage breast cancer.
Christian Jackisch et al. Breast Cancer Res Treat 2024
Hereditary Cancer
-
Decision aids for female BRCA mutation carriers: a scoping review.
Sarah A McGarrigle et al. BMJ Open 2024 14(6) e076876 -
Cost-Effectiveness of Unselected Multigene Germline and Somatic Genetic Testing for Epithelial Ovarian Cancer.
Ranjit Manchanda et al. J Natl Compr Canc Netw 2024 22(2D) -
Opportunities for Improving Detection of Cancer Predisposition Syndromes in Pediatric Solid Tumor Patients.
Benjamin Hu et al. J Pediatr Hematol Oncol 2024 -
A Prospective Questionnaire-Based Study Evaluating Genetic Literacy and Impact of Brief Educational Intervention Among Breast Cancer Patients in a Low- to Middle-Income Country.
Ashutosh Mishra et al. Ann Surg Oncol 2024 -
Germline Pathogenic Variants Identified in Patients With Genitourinary Malignancies Undergoing Universal Testing: A Multi-Site Single-Institution Prospective Study.
Mouneeb M Choudry et al. J Urol 2024 101097JU0000000000004089
Chronic Disease
-
Association between APOA5 polymorphisms and susceptibility to metabolic syndrome: a systematic review and meta-analysis.
Sima Mozafari et al. BMC Genomics 2024 25(1) 590 -
Genomic Testing in Patients with Kidney Failure of an Unknown Cause: a National Australian Study.
Amali C Mallawaarachchi et al. Clin J Am Soc Nephrol 2024
Ethics/Policy/Law
-
A contextual integrity approach to genomic information: what bioethics can learn from big data ethics.
Nina F de Groot et al. Med Health Care Philos 2024
Practice
-
A unified framework for estimating country-specific cumulative incidence for 18 diseases stratified by polygenic risk.
Bradley Jermy et al. Nat Commun 2024 15(1) 5007 -
Association of Occupational Dysfunction and Hospital Admissions With Different Polygenic Profiles in Bipolar Disorder.
Lina Jonsson et al. Am J Psychiatry 2024 appiajp20230073
Heart, Lung, Blood and Sleep Diseases
-
Genetics and Pathophysiological Mechanisms of Lipoprotein(a)-Associated Cardiovascular Risk.
Annabelle Santos Volgman et al. J Am Heart Assoc 2024 e033654
Newborn Screening
-
Genomic sequencing for newborn screening: current perspectives and challenges.
Nidhi Shah et al. Croat Med J 2024 65(3) 261-267
Pharmacogenomics
-
Pharmacogenomic Characterization of Childbearing-Aged Individuals With Mood Disorders in a Tertiary Care Perinatal Mental Health Clinic.
Jessica L W Mayer et al. J Clin Psychiatry 2024 85(2) -
CYP2C19 Genotype Is Associated With Adverse Cardiovascular Outcomes in Black Patients Treated With Clopidogrel Undergoing Percutaneous Coronary Intervention.
Kayla R Tunehag et al. J Am Heart Assoc 2024 e033791 -
Rationale and design for a pragmatic randomized trial to assess gene-based prescribing for SSRIs in the treatment of depression.
Lindsay J Hines et al. Clin Transl Sci 2024 17(6) e13822
Reproductive Health
-
An ESHG-ESHRE survey on the current practice of expanded carrier screening in medically assisted reproduction.
Antonio Capalbo et al. Hum Reprod 2024 -
Pregnant couples' attitude toward extended pre-conceptional genomic screening.
Mojca Cižek Sajko et al. Croat Med J 2024 65(3) 189-197