Published on 08/11/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact.
et al. American journal of human genetics 2022 109(8) 1353-1365 -
Survey of Health Care Provider Understanding of Gene Therapy Research for Inherited Metabolic Disorders.
Hansen Joyanna et al. Clinical therapeutics 2022 -
Targeted Whole Exome Sequencing in Children With Early-Onset Epilepsy: Parent Experiences.
Alam Armaghan et al. Journal of child neurology 2022 8830738221113901
Cancer Genomics
-
Clinical utility of tumour mutational burden on efficacy of immune checkpoint inhibitors in malignant solid tumours: protocol for a systematic review and meta-analysis.
Xiang Xuemei et al. BMJ open 2022 12(8) e058692 -
Development and validation of a 4-lncRNA combined prediction model for patients with hepatocellular carcinoma.
Xu Cui et al. Advances in clinical and experimental medicine : official organ Wroclaw Medical University 2022 -
Mismatch Repair and Microsatellite Instability Testing for Immune Checkpoint Inhibitor Therapy.
Bartley Angela N et al. Archives of pathology & laboratory medicine 2022 -
Final overall survival data of sintilimab plus pemetrexed and platinum as First-Line treatment for locally advanced or metastatic nonsquamous NSCLC in the Phase 3 ORIENT-11 study.
Zhang Li et al. Lung cancer (Amsterdam, Netherlands) 2022 17156-60 -
The economic value of liquid biopsy for genomic profiling in advanced non-small cell lung cancer.
Ezeife Doreen A et al. Therapeutic advances in medical oncology 2022 1417588359221112696 -
Next-generation sequencing, should I use anti-HER2 therapy for HER2-amplified tumors off-label? Illustrating an extrapolation framework.
Cho Doah et al. Therapeutic advances in medical oncology 2022 1417588359221112822
Hereditary Cancer
-
Satisfaction with Clinician-Led Germline Genetic Counseling in Patients with Prostate Cancer.
Abusamra Sophia M et al. The Journal of urology 2022 101097JU0000000000002865 -
Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort.
Padmanabhan Heamanthaa et al. Journal of genetic counseling 2022
Chronic Disease
-
Discovery and validation of dominantly inherited Alzheimer's disease mutations in populations from Latin America.
Takada Leonel Tadao et al. Alzheimer's research & therapy 2022 14(1) 108 -
Epigenetic Clock Acceleration Is Linked to Age at Onset of Parkinson's Disease.
Tang Xuelin et al. Movement disorders : official journal of the Movement Disorder Society 2022 -
Translation of gene therapy strategies for amyotrophic lateral sclerosis.
Demarest Tyler G et al. Trends in molecular medicine 2022
Ethics/Policy/Law
-
The goldilocks conundrum: Disclosing discrimination risks in informed consent.
Prince Anya E R et al. Journal of genetic counseling 2022
Practice
-
Association Between Polymorphisms in Estrogen Receptor Genes and Depression in Women: A Meta-Analysis.
Li Cuifen et al. Frontiers in genetics 2022 13936296 -
[A large-scale retrospective analysis of copy number variations in single center using ACMG-ClinGen latest guidelines].
Zhang Yuxin et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 39(8) 814-818 -
Medicalizing risk: How experts and consumers manage uncertainty in genetic health testing.
Mukherjee Meghna et al. PloS one 2022 17(8) e0270430 -
Moving to Personalized Medicine Requires Personalized Health Plans.
Powell Adam et al. Journal of participatory medicine 2022 14(1) e35798 -
Array genotyping as diagnostic approach in medical genetics.
Witsch-Baumgartner Martina et al. Molecular genetics & genomic medicine 2022 e2016 -
Familial Aggregation Studies: A Valuable Tool in the Genetic Toolbox.
Goldmuntz Elizabeth et al. Circulation. Genomic and precision medicine 2022 CIRCGEN122003868 -
Attitudes towards and sociodemographic determinants of genetic test usage in the USA; data from the Health Information National Trend Survey, 2020.
Swoboda Christine M et al. Journal of genetic counseling 2022
Heart, Lung, Blood and Sleep Diseases
-
Transthyretin cardiac amyloidosis.
Porcari Aldostefano et al. Cardiovascular research 2022 -
Causal Association of Cardiovascular Risk Factors and Lifestyle Behaviors With Peripheral Artery Disease: A Mendelian Randomization Approach.
Hoek Anna G et al. Journal of the American Heart Association 2022 e025644 -
Monogenic basis of young-onset cryptogenic stroke: a multicenter study.
Yuan Wei-Zhuang et al. Annals of translational medicine 2022 10(9) 512 -
Three Newly Recognized Likely Pathogenic Gene Variants Associated with Hereditary Transthyretin Amyloidosis.
Patel Jignesh K et al. Neurology and therapy 2022 -
Do Biobank Recall Studies Matter? Long-Term Follow-Up of Research Participants With Familial Hypercholesterolemia.
Nurm Miriam et al. Frontiers in genetics 2022 13936131 -
Optimized Treatment of Refractory Hypercholesterolemia in Patients With Atherosclerotic Cardiovascular Disease or Heterozygous Familial Hypercholesterolemia With Alirocumab (OPTIMIZE).
Sudano Isabella et al. Frontiers in cardiovascular medicine 2022 9953040
Newborn Screening
-
Duchenne expert physician perspectives on Duchenne newborn screening and early Duchenne care.
Armstrong Niki et al. American journal of medical genetics. Part C, Seminars in medical genetics 2022 -
Newborn Tandem Mass Spectroscopy Screening for Adenosine Deaminase Deficiency-First Two Years' Experience.
Hartog Nicholas et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2022 -
Real-world Associations of US Cystic Fibrosis Newborn Screening Programs With Nutritional and Pulmonary Outcomes.
Rosenfeld Margaret et al. JAMA pediatrics 2022 -
Newborn screening for Pompe disease: Parental experiences and follow-up care for a late-onset diagnosis.
Prakash Supraja et al. Journal of genetic counseling 2022
Pharmacogenomics
-
Cost-Utility Analysis of Pharmacogenetic Testing Based on CYP2C19 or CYP2D6 in Major Depressive Disorder: Assessing the Drivers of Different Cost-Effectiveness Levels from an Italian Societal Perspective.
Carta Andrea et al. Clinical drug investigation 2022 -
Attitudes on pharmacogenomic results as secondary findings among medical geneticists.
Bartos Meghan N et al. Pharmacogenetics and genomics 2022