Published on 09/08/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Factors associated with pediatric genetic counselors' practices related to bullying screening.
Ginter Jacob A et al. Journal of genetic counseling 2022 -
Development and validation of diagnostic algorithms for the laboratory diagnosis of porphyrias.
Lefever Stefanie et al. Journal of inherited metabolic disease 2022 -
Developmental Pathways and Clinical Outcomes of Early Childhood Psychotic Experiences in Preadolescent Children at Familial High Risk of Schizophrenia or Bipolar Disorder: A Prospective, Longitudinal Cohort Study - The Danish High Risk and Resilience Study, VIA 11.
Gregersen Maja et al. The American journal of psychiatry 2022 179(9) 628-639
Cancer Genomics
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Immune Checkpoint Blockade Outcome in Small-Cell Lung Cancer and Its Relationship With Retinoblastoma Mutation Status and Function.
Dowlati Afshin et al. JCO precision oncology 2022 6e2200257 -
The Oncotype DX Recurrence Score's Impact on the Management of Oestrogen-Positive/Human Epidermal Growth Factor Receptor 2-Negative, Low-Burden Axillary Status Breast Cancer (REHAB Study): Results of a Single Centre.
Saad Abdalla Al-Zawi Abdalla et al. Cureus 2022 14(7) e27341 -
Implementation of an NGS panel for clinical practice in paraffin-embedded tissue samples from locally advanced and metastatic melanoma patients.
Castillo Paola et al. Exploration of targeted anti-tumor therapy 2022 1(2) 101-108 -
The Potential Value-Based Price of a Multi-Cancer Early Detection Genomic Blood Test to Complement Current Single Cancer Screening in the USA.
Tafazzoli Ali et al. PharmacoEconomics 2022 -
The 17-gene Genomic Prostate Score assay as a predictor of biochemical recurrence in men with intermediate and high-risk prostate cancer.
Helfand Brian T et al. PloS one 2022 17(9) e0273782 -
Mutational signature 3 detected from clinical panel sequencing is associated with responses to olaparib in breast and ovarian cancers.
Batalini Felipe et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022
Hereditary Cancer
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Cost-Effectiveness Analysis of Germline and Somatic BRCA Testing in Patients With Advanced Ovarian Cancer.
Jang Jaehyeok et al. Annals of laboratory medicine 2022 43(1) 73-81 -
Initial Longitudinal Outcomes of Risk-Stratified Men in Their Forties Screened for Prostate Cancer Following Implementation of a Baseline Prostate-Specific Antigen.
Michael Zoe D et al. The world journal of men's health 2022 -
Disparities in cancer genetics care by race/ethnicity among pan-cancer patients with pathogenic germline variants.
Liu Ying L et al. Cancer 2022 -
Moving Prostate Cancer Polygenic Risk Scores from Research Towards Clinical Practice.
Kearns James T et al. European urology focus 2022 -
Risk-reducing mastectomy decisions among women with mutations in high- and moderate- penetrance breast cancer susceptibility genes.
Comeaux Jacob G et al. Molecular genetics & genomic medicine 2022 e2031 -
Hereditary Cancer Syndromes-A Broader Clinical Spectrum Than Previously Understood?
Puthanmadhom Narayanan Susrutha et al. JAMA oncology 2022
Chronic Disease
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A Diabetes Genetic Risk Score Is Associated With All-Cause Dementia and Clinically Diagnosed Vascular Dementia in the Million Veteran Program.
Litkowski Elizabeth M et al. Diabetes care 2022
Ethics/Policy/Law
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Integrating hereditary breast and ovarian cancer genetic counselling and testing into mainstream clinical practice: Legal and ethical challenges.
Charron Marilou et al. Critical reviews in oncology/hematology 2022 103797 -
The Directiveness that Dare Not Speak Its Name. Views and Attitudes of Polish Clinical Geneticists toward the Nondirectiveness Principle.
Chanska Weronika et al. Journal of bioethical inquiry 2022 -
Ethical considerations for precision psychiatry: A roadmap for research and clinical practice.
Fusar-Poli Paolo et al. European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2022 6317-34 -
Ethical Aspects of Prenatal DNA Testing.
Stanic Žana et al. Zeitschrift fur Geburtshilfe und Neonatologie 2022 -
Genetic testing for psychiatric illness in children: ethical issues.
Lynch Fiona et al. Current opinion in pediatrics 2022
Practice
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The ADAPT Parenting Intervention Benefits Combat Exposed Fathers Genetically Susceptible to Problem Drinking.
DeGarmo David S et al. Prevention science : the official journal of the Society for Prevention Research 2022 -
The Polygenic Risk Score Knowledge Base offers a centralized online repository for calculating and contextualizing polygenic risk scores.
Page Madeline L et al. Communications biology 2022 5(1) 899 -
Returning negative results from large-scale genomic screening: Experiences from the eMERGE III network.
Finn Kelsey Stuttgen et al. American journal of medical genetics. Part A 2022 185(2) 508-516 -
Considerations for policymakers for improving health care through telegenetics: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Williams Heather E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
An accessible, relational, inclusive, and actionable (ARIA) model of genetic counseling compared with usual care: Results of a randomized controlled trial.
Joseph Galen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
2022 Association of Professors of Human and Medical Genetics (APHMG) consensus-based update of the core competencies for undergraduate medical education in genetics and genomics.
Massingham Lauren J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Relative impact of genetic ancestry and neighborhood socioeconomic status on all-cause mortality in self-identified African Americans.
Iyer Hari S et al. PloS one 2022 17(8) e0273735 -
Perspectives and experiences of researchers regarding feedback of incidental genomic research findings: A qualitative study.
Ochieng Joseph et al. PloS one 2022 17(8) e0273657
Heart, Lung, Blood and Sleep Diseases
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Progress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. Defining the place for liver-directed gene therapy.
Di Minno Giovanni et al. Blood reviews 2022 101011 -
Effectiveness and safety of proprotein convertase subtilisin/kexin type 9 inhibitors in patients with familial hypercholesterolemia. Our experience in implementing the drug program of the Polish National Health Fund.
Bobrowska Beata et al. Postepy w kardiologii interwencyjnej = Advances in interventional cardiology 2022 18(2) 162-166 -
Familial hypercholesterolaemia and coronary risk factors among patients with angiogram-proven premature coronary artery disease in an Asian cohort.
Nazli Sukma Azureen et al. PloS one 2022 17(9) e0273896 -
Lipoprotein(a) in atherosclerotic cardiovascular disease and aortic stenosis: a European Atherosclerosis Society consensus statement.
Kronenberg Florian et al. European heart journal 2022
Pharmacogenomics
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Characterization of POR haplotype distribution in African populations and comparison with other global populations.
Booyse Ross P et al. Pharmacogenomics 2022 -
Pharmacogenomic biomarkers as source of evidence of the effectiveness and safety of antidepressant therapy.
Correia Catarina et al. BMC psychiatry 2022 22(1) 576 -
Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate.
van der Pol Karel H et al. European journal of human genetics : EJHG 2022 -
Pharmacotherapy for children with elevated levels of lipoprotein(a): future directions.
de Boer Lotte M et al. Expert opinion on pharmacotherapy 2022 -
Prevalence and impact of misdiagnosed drug allergy labels among patients with hereditary angioedema.
Wong Jane Chi Yan et al. Frontiers in allergy 2022 3953117
Reproductive Health
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The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study.
Severijns Yil et al. Journal of genetic counseling 2022