Published on 09/23/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Tuberous Sclerosis: Current Update.
Wang Mindy X et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2021 210103 -
Enzyme replacement therapy with galsulfase for mucopolysaccharidosis type VI.
Brunelli Marcela Junqueira et al. The Cochrane database of systematic reviews 2021 9CD009806 -
Genetic counseling as preventive intervention: toward individual specification of transgenerational autism risk.
Marrus Natasha et al. Journal of neurodevelopmental disorders 2021 13(1) 39 -
A systematic review and meta-analysis of imaging genetics studies of specific reading disorder.
Thomas Tina et al. Cognitive neuropsychology 2021 1-26 -
Juvenile-onset Open-angle Glaucoma - A Clinical and Genetic Update.
Selvan Harathy et al. Survey of ophthalmology 2021 -
Patients with Ehlers-Danlos syndrome on the diagnostic odyssey: Rethinking complexity and difficulty as a hero's journey.
Halverson Colin Michael Egenberger et al. American journal of medical genetics. Part C, Seminars in medical genetics 2021
Cancer Genomics
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Increased Expression of Long Non-coding RNA H19 is Associated With Colon Cancer Recurrence.
O'Brien Stephen J et al. The Journal of surgical research 2021 26959-68 -
Association of RAD51 with Homologous Recombination Deficiency (HRD) and clinical outcomes in untreated triple-negative breast cancer (TNBC): analysis of the GeparSixto randomized clinical trial.
Llop-Guevara A et al. Annals of oncology : official journal of the European Society for Medical Oncology 2021 -
Comprehensive Analysis of Gene Expression Profiles Identifies a P4HA1-Related Gene Panel as a Prognostic Model in Colorectal Cancer Patients.
Chen Zhangxing et al. Cancer biotherapy & radiopharmaceuticals 2021 -
Novel strategy for disease risk prediction incorporating predicted gene expression and DNA methylation data: a multi-phased study of prostate cancer.
Wu Chong et al. Cancer communications (London, England) 2021 -
Outcomes after targeted treatment based on somatic tumor genetic testing for women with gynecologic cancers.
Somasegar Sahana et al. Gynecologic oncology 2021 -
The impact of tumor detection method on genomic and clinical risk and chemotherapy recommendation in early hormone receptor positive breast cancer.
Bar Yael et al. Breast (Edinburgh, Scotland) 2021 6078-85 -
Genomic alteration profiles of lung cancer and their relationship to clinical features and prognosis value using individualized genetic testing.
Zhang Fan et al. Journal of thoracic disease 2021 13(8) 5007-5015 -
Detection of Neoplasms by Metagenomic Next-Generation Sequencing of Cerebrospinal Fluid.
Gu Wei et al. JAMA neurology 2021
Hereditary Cancer
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Genetic testing in women with early-onset breast cancer: a Traceback pilot study.
Augustinsson Annelie et al. Breast cancer research and treatment 2021 -
Risk of Pancreatic Cancer Among Individuals With Pathogenic Variants in the ATM Gene.
Hsu Fang-Chi et al. JAMA oncology 2021 -
Inherited Pancreatic Cancer Syndromes and High-Risk Screening.
Biller Leah H et al. Surgical oncology clinics of North America 2021 30(4) 773-786 -
Strategies for Lynch syndrome identification in selected and unselected gynecological cancers.
Carnevali Ileana et al. European journal of cancer prevention : the official journal of the European Cancer Prevention Organisation (ECP) 2021 -
Importance of Family History of Colorectal Cancer In Situ Versus Invasive Colorectal Cancer: A Nationwide Cohort Study.
Tian Yu et al. Journal of the National Comprehensive Cancer Network : JNCCN 2021 1-6 -
Ability of known colorectal cancer susceptibility SNPs to predict colorectal cancer risk: A cohort study within the UK Biobank.
Gafni Aviv et al. PloS one 2021 16(9) e0251469
Chronic Disease
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Genetically determined low income modifies Alzheimer's disease risk.
Wang Rong-Ze et al. Annals of translational medicine 2021 9(15) 1222
Ethics/Policy/Law
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Commercial DNA tests and police investigations: a broad bioethical perspective.
de Groot Nina F et al. Journal of medical ethics 2021
Practice
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Far and wide: Exploring provider utilization of remote service provision for genome-wide sequencing in Canada.
Enns Emily A et al. Molecular genetics & genomic medicine 2021 e1784 -
Whole Genome Sequencing as a First-Line Clinical Test: Almost Ready for Prime Time.
Dahmer Mary K et al. Critical care medicine 2021 49(10) 1815-1817 -
Genetic counseling research and COVID-19: A lesson in resiliency.
Borle Kennedy et al. Journal of genetic counseling 2021 -
Rethinking genetic counseling clinical skills training in the time of COVID-19.
Stallman Chris et al. Journal of genetic counseling 2021 -
Mapping Users' Experience of a Family History and Genetic Risk Algorithm Tool in Primary Care.
Miroševic Špela et al. Public health genomics 2021 1-10 -
Evaluating Primary Care Providers' Readiness for Delivering Genetic and Genomic Services to Underserved Populations.
Sharma Yashoda et al. Public health genomics 2021 1-10
Heart, Lung, Blood and Sleep Diseases
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Efficacy of a family-based cardiovascular risk reduction intervention in individuals with a family history of premature coronary heart disease in India (PROLIFIC): an open-label, single-centre, cluster randomised controlled trial.
Jeemon Panniyammakal et al. The Lancet. Global health 2021 9(10) e1442-e1450 -
Loss of statin treatment years during pregnancy and breastfeeding periods in women with familial hypercholesterolemia.
Klevmoen Marianne et al. Atherosclerosis 2021 3358-15 -
Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel.
Kountouris Petros et al. Human mutation 2021 -
Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.
Harada-Shiba Mariko et al. Journal of atherosclerosis and thrombosis 2021 -
Hereditary Hemochromatosis: Rapid Evidence Review.
Kane Shawn F et al. American family physician 2021 104(3) 263-270 -
Case-finding and genetic testing for familial hypercholesterolaemia in primary care.
Qureshi Nadeem et al. Heart (British Cardiac Society) 2021
Newborn Screening
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Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale Olivia M et al. Molecular genetics and metabolism 2021
Pharmacogenomics
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The pharmacogenetics of treatment with olanzapine.
Zubiaur Pablo et al. Pharmacogenomics 2021 -
Engaging pharmacogenomics in pain management and opioid selection.
Bright David R et al. Pharmacogenomics 2021