Published on 05/16/2024
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing.
Danya Salah Baz et al. Front Pediatr 2024 121392444 -
Adolescents' implicit and explicit attitudes toward their peers with genetic conditions.
Tasha Wainstein et al. J Adolesc 2024 -
Short developmental milestone risk assessment tool to identify Duchenne muscular dystrophy in primary care.
Paula van Dommelen et al. Orphanet J Rare Dis 2024 19(1) 192
Cancer Genomics
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Clinical actionability of BRCA2 alterations in uterine leiomyosarcoma: a molecular tumor board case report and a cBioPortal comprehensive analysis.
Luca Boscolo Bielo et al. Oncologist 2024 -
Optimizing the Use of Next-Generation Sequencing Assays in Patients With Urothelial Carcinoma: Recommendations by the 2023 San Raffaele Retreat Panel.
Valentina Tateo et al. Clin Genitourin Cancer 2024 22(4) 102091 -
Genomic Characterization of Partial Tandem Duplication Involving the KMT2A Gene in Adult Acute Myeloid Leukemia.
Andrew Seto et al. Cancers (Basel) 2024 16(9)
Hereditary Cancer
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Outcomes of a universal germline screening program in a community urology practice.
Neil Mendhiratta et al. Clin Genet 2024 -
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families from the Lynch Memorial Biobank reveals complex genetic architecture and phenocopies.
Jocelyn N Plowman et al. HGG Adv 2024 100306 -
Ovarian cancer: identifying and managing familial and genetic risk-summary of new NICE guidance.
Eric Slade et al. BMJ 2024 385q807 -
Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.
Michiel Vlaming et al. Fam Cancer 2024
Chronic Disease
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The Role of X Chromosome in Alzheimer's Disease Genetics.
Michael E Belloy et al. medRxiv 2024
Ethics/Policy/Law
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A model for supporting biomedical and public health researcher use of publicly available All of Us data at Historically Black Colleges and Universities.
Brian Southwell et al. J Am Med Inform Assoc 2024
Practice
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Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.
Elizabeth Charnysh et al. Genet Med 2024 101160 -
All of Us Participant Perspectives on the Return of Value in Research.
Jennifer Richmond et al. Genet Med 2024 101163 -
A systematic review on the appropriate discounting rates for the economic evaluation of gene therapies: whether a specific approach is justified to tackle the challenges?
Tingting Qiu et al. Int J Technol Assess Health Care 2024 40(1) e23
Heart, Lung, Blood and Sleep Diseases
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Clinical Practice Patterns in Sickle Cell Disease Treatment: Disease-Modifying and Potentially Curative Therapies.
Luisanna M Sánchez et al. J Pediatr Hematol Oncol 2024 -
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Steve R Ommen et al. Circulation 2024 -
Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.
Urte Aliosaitiene et al. Lipids Health Dis 2024 23(1) 136 -
Clinical Interpretation of Genetic Variants in the Evaluation and Management of Thoracic Aortic Aneurysm and Dissection.
Zaid Abood et al. Am J Med 2024 -
Clinical Genetic and Genomic Testing in Congenital Heart Disease and Cardiomyopathy.
Mahati Pidaparti et al. J Clin Med 2024 13(9) -
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
et al. J Am Coll Cardiol 2024 -
A national postgraduate nurse practitioner and physician assistant fellowship in cystic fibrosis: An innovative approach to the provider shortage in complex and rare disease.
Cynthia J Brady et al. J Am Assoc Nurse Pract 2024 -
Genome-wide association studies reveal differences in genetic susceptibility between single events vs. recurrent events of atrial fibrillation and myocardial infarction: the HUNT study.
Martina Hall et al. Front Cardiovasc Med 2024 111372107
Newborn Screening
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Australian public perspectives on genomic newborn screening: which conditions should be included?
Fiona Lynch et al. Hum Genomics 2024 18(1) 45
Pharmacogenomics
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Economic Evaluation of HLA-B*15:02 Genotyping for Asian Australian Patients With Epilepsy.
Yaron Gu et al. JAMA Dermatol 2024
Reproductive Health
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New Insights beyond Established Norms: A Scoping Review of Genetic Testing for Infertile Men.
Hamid Kalantari et al. Urol J 2024 -
Exome sequencing in every pregnancy? Results of trio exome sequencing in structurally normal fetuses.
Michal Levy et al. Prenat Diagn 2024 -
Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis and pregnancy outcomes of fetuses with polyhydramnios.
Yanyan Liu et al. J Matern Fetal Neonatal Med 2024 37(1) 2344089