Published on 08/25/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Optimising care and follow-up of adults with achondroplasia.
Fredwall Svein et al. Orphanet journal of rare diseases 2022 17(1) 318 -
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Ewans Lisa J et al. European journal of human genetics : EJHG 2022 -
Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia.
Wang Tianjiao et al. Journal of neurology 2022 -
Genomic tools for health: Secondary findings as findings to be shared.
Miner Skye A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022
Cancer Genomics
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Tailoring neoadjuvant treatment of HR-positive/HER2-negative breast cancers: Which role for gene expression assays?
Garufi Giovanna et al. Cancer treatment reviews 2022 110102454 -
How I Use It: The Exosome Diagnostics (EPI) prostate cancer biomarker utility in urology and primary care.
Moul Judd W et al. The Canadian journal of urology 2022 29(4) 11224-11230 -
Circulating Tumor DNA is Unreliable to Detect Somatic Gene Alterations in Gastrointestinal Peritoneal Carcinomatosis.
Sullivan Brittany G et al. Annals of surgical oncology 2022 -
Tumor Mutational Burden as a Predictor of First-Line Immune Checkpoint Inhibitor Versus Carboplatin Benefit in Cisplatin-Unfit Patients With Urothelial Carcinoma.
Graf Ryon P et al. JCO precision oncology 2022 6e2200121 -
A mA methyltransferase-mediated immune signature determines prognosis, immune landscape and immunotherapy efficacy in patients with lung adenocarcinoma.
Lei Mengyuan et al. Cellular oncology (Dordrecht) 2022 -
Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.
Ma Xiaosen et al. Frontiers in endocrinology 2022 13921645
Hereditary Cancer
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Carrier screening: an update.
Zhang Kuo et al. Clinica chimica acta; international journal of clinical chemistry 2022 -
Identifying Patients Who Meet Criteria for Genetic Testing of Hereditary Cancers Based on Structured and Unstructured Family Health History Data in the Electronic Health Record: Natural Language Processing Approach.
Shi Jianlin et al. JMIR medical informatics 2022 10(8) e37842 -
Prevalence of BRCA1 and BRCA2 pathogenic variants in 8627 unselected patients with breast cancer: stratification of age at diagnosis, family history and molecular subtype.
Zang Fan et al. Breast cancer research and treatment 2022
Chronic Disease
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Cognitive performances across individuals at high genetic risk for schizophrenia, high genetic risk for bipolar disorder, and low genetic risks: a combined polygenic risk score approach.
Ohi Kazutaka et al. Psychological medicine 2022 1-10 -
Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.
Grover Sandeep et al. Neurology 2022 99(7) e698-e710 -
The Evolving Role of Diagnostic Genomics in Kidney Transplantation.
Soraru Jacqueline et al. Kidney international reports 2022 7(8) 1758-1771
Ethics/Policy/Law
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Ethical Challenges Associated with Pathogen and Host Genetics in Infectious Disease.
Milne Richard et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2022 1-13
Practice
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Genetic variants with discordant classifications: An assessment of genetic counselor attitudes and practices.
Lahiri Sayoni et al. Journal of genetic counseling 2022 -
Phenome-Wide Association Study of UMOD Gene Variants and Differential Associations With Clinical Outcomes Across Populations in the Million Veteran Program a Multiethnic Biobank.
Akwo Elvis A et al. Kidney international reports 2022 7(8) 1802-1818 -
Expanding ACMG variant classification guidelines into a general framework.
Masson Emmanuelle et al. Human genomics 2022 16(1) 31
Heart, Lung, Blood and Sleep Diseases
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Stroke Prevention with Hydroxyurea Enabled through Research and Education (SPHERE): a Phase 2 primary stroke prevention trial in sub-Saharan Africa.
Smart Luke R et al. Acta haematologica 2022 -
Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.
Wang Cheng et al. Frontiers in cardiovascular medicine 2022 9921803 -
A polygenic risk score predicts atrial fibrillation in cardiovascular disease.
Marston Nicholas A et al. European heart journal 2022 -
Prospective study on the efficacy and impact of Cascade Screening and Evaluation of HAE (CaSE-HAE).
Wong Jane C Y et al. The journal of allergy and clinical immunology. In practice 2022 -
Internalizing Symptoms in Adolescents With Sickle Cell Disease.
Heitzer Andrew M et al. Journal of pediatric psychology 2022
Newborn Screening
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Parents' views on accepting, declining, and expanding newborn bloodspot screening.
van der Pal Sylvia M et al. PloS one 2022 17(8) e0272585
Pharmacogenomics
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A paradigm shift in pharmacogenomics: from candidate polymorphisms to comprehensive sequencing.
Zhou Yitian et al. Basic & clinical pharmacology & toxicology 2022