Published on 07/27/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Genetic testing and screening in children.
Moore Aideen M et al. Paediatrics & child health 2022 27(4) 243-253 -
A retrospective analysis of metabolic control in children with PKU in the COVID-19 era.
Becsei Dóra et al. Molecular genetics and metabolism reports 2022 32100897 -
Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.
Van Loo Karen M J et al. Nature reviews. Neurology 2022 -
Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.
Öztürk Fatma Ünesi et al. The Pan African medical journal 2022 41308
Cancer Genomics
-
Integrative Proteo-Genomic Analysis for Recurrent Survival Prognosis in Colon Adenocarcinoma.
Ai FeiYan et al. Frontiers in oncology 2022 12871568 -
Prognostic Role of RNA Expression Molecular Biomarkers in Prostate and Bladder Cancers.
Ahmed Mohamed E et al. European urology focus 2022 -
Genomic and epigenomic BRCA alterations predict adaptive resistance and response to platinum-based therapy in patients with triple-negative breast and ovarian carcinomas.
Menghi Francesca et al. Science translational medicine 2022 14(652) eabn1926 -
Expert opinion on NSCLC small specimen biomarker testing - Part 2: Analysis, reporting, and quality assessment.
Penault-Llorca Frédérique et al. Virchows Archiv : an international journal of pathology 2022 -
Landscape of somatic alterations in large-scale solid tumors from an Asian population.
Wu Liqun et al. Nature communications 2022 13(1) 4264 -
Validation of the 70-gene signature test (MammaPrint) to identify patients with breast cancer aged ≥ 70 years with ultralow risk of distant recurrence: A population-based cohort study.
Noordhoek I et al. Journal of geriatric oncology 2022 -
Performance of a Multigene Genomic Classifier in Thyroid Nodules with Suspicious for Malignancy Cytology.
Skaugen John M et al. Thyroid : official journal of the American Thyroid Association 2022
Hereditary Cancer
-
Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial.
Kukafka Rita et al. JAMA network open 2022 5(7) e2222092 -
Inherited genetics of adult diffuse glioma and polygenic risk scores-a review.
Eckel-Passow Jeanette E et al. Neuro-oncology practice 2022 9(4) 259-270 -
Cancer carrier screening in the general population using whole-genome sequencing.
Chang Ya-Sian et al. Cancer medicine 2022 -
Adapting a Theoretically-Based intervention for underserved clinical populations at increased risk for hereditary Cancer: Lessons learned from the BRCA-Gist experience.
Hurtado-de-Mendoza Alejandra et al. Preventive medicine reports 2022 28101887 -
Polygenic risk score in prostate cancer.
Oh Jong Jin et al. Current opinion in urology 2022 -
Implementing universal upfront multi-gene panel testing in endometrial cancer: From cost to practical considerations.
Levine Monica D et al. Gynecologic oncology 2022 -
Influence of germline test results on surgical decision making in women with invasive breast cancer.
Vargason Ashlee B et al. Cancer genetics 2022 266-26781-85 -
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
Ossa Gomez Carlos Andrés et al. JCO global oncology 2022 8e2200104 -
Screening for Individuals at Risk for Hereditary Breast and Ovarian Cancer: A Statewide Initiative, Georgia, 2012-2020.
Veitinger Julia K et al. American journal of public health 2022 e1-e4
Chronic Disease
-
Underrepresented Populations in Parkinson's Genetics Research: Current Landscape and Future Directions.
Schumacher-Schuh Artur Francisco et al. Movement disorders : official journal of the Movement Disorder Society 2022
Ethics/Policy/Law
-
Is blockchain the breakthrough we are looking for to facilitate genomic data sharing? The European Union perspective.
Cascini Fidelia et al. Digital health 2022 820552076221114225 -
Including diverse and admixed populations in genetic epidemiology research.
Caliebe Amke et al. Genetic epidemiology 2022 -
Establishing a blockchain-enabled Indigenous data sovereignty framework for genomic data.
Mackey Tim K et al. Cell 2022 185(15) 2626-2631
Practice
-
Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Ellingford Jamie M et al. Genome medicine 2022 14(1) 73 -
Optimizing the delivery of genetic and advanced diagnostic testing in the province of Ontario: challenges and implications for laboratory technology assessment and management in decentralized healthcare systems.
Husereau Don et al. Journal of medical economics 2022 1-33 -
Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review.
Shen Emily C et al. Frontiers in genetics 2022 13865384 -
Mendelian randomization analysis identified causal Association of Childhood Obesity with adult major depressive disorder.
Yan Shan-Shan et al. Pediatric obesity 2022 e12960 -
Utility and Outcomes of the 2019 ACMG-ClinGen Guidelines for Interpretation of Copy-Number Variants With Borderline Classifications at an Academic Clinical Diagnostic Laboratory.
Drackley Andy et al. The Journal of molecular diagnostics : JMD 2022
Heart, Lung, Blood and Sleep Diseases
-
Prediction of Coronary Artery Disease and Major Adverse Cardiovascular Events Using Clinical and Genetic Risk Scores for Cardiovascular Risk Factors.
Ramírez Julia et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003441 -
Utility of Provocative Testing in the Diagnosis and Genotyping of Congenital Long QT Syndrome: A Systematic Review and Meta-Analysis.
Yang Ying et al. Journal of the American Heart Association 2022 11(14) e025246 -
Familial hypercholesterolemia: A systematic review of modeling studies on screening interventions.
Jahn Beate et al. Atherosclerosis 2022 35515-29 -
A Machine Learning Model Based on Genetic and Traditional Cardiovascular Risk Factors to Predict Premature Coronary Artery Disease.
Liu Benrong et al. Frontiers in bioscience (Landmark edition) 2022 27(7) 211 -
Polygenic Risk, Midlife Life's Simple 7, and Lifetime Risk of Stroke.
Thomas Emy A et al. Journal of the American Heart Association 2022 e025703 -
Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association.
O'Sullivan Jack W et al. Circulation 2022 101161CIR0000000000001077
Newborn Screening
-
Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.
Rahimzadeh Vasiliki et al. Frontiers in genetics 2022 13865400 -
Newborn Screening for SMA - Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?
Blaschek Astrid et al. Journal of neuromuscular diseases 2022
Pharmacogenomics
-
Pharmacogenetics-guided dalcetrapib therapy after an acute coronary syndrome: the dal-GenE trial.
Tardif Jean Claude et al. European heart journal 2022 -
Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guide Chemotherapy Dosing.
Varughese Lisa A et al. Frontiers in oncology 2022 12859846
Reproductive Health
-
Incidental Detection of Maternal Malignancy by Fetal Cell-Free DNA Screening.
Rink Britton D et al. Obstetrics and gynecology 2022 140(1) 121-131 -
Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
Hardy J et al. Journal of assisted reproduction and genetics 2022 -
Prenatal Genetic Testing and Screening: A Focused Review.
Caceres Valentina et al. Seminars in pediatric neurology 2022 42100976