Published on 09/10/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Genome-wide association study of café-au-lait macule number in neurofibromatosis type 1.
Sung Heejong et al. Molecular genetics & genomic medicine 2020 Aug e1400 -
Adaptation and validation of the Genetic Counseling Outcome Scale for autism spectrum disorders and related conditions.
Yusuf Afiqah et al. Journal of genetic counseling 2020 Sep -
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
Márquez-Caraveo María Elena et al. Journal of autism and developmental disorders 2020 Sep -
Practical Approaches and Knowledge Gaps in the Care for Children With Leukodystrophies.
Keller Stephanie R et al. Journal of child neurology 2020 Sep 883073820946154 -
Genetic testing for inherited eye conditions in over 6,000 individuals through the eyeGENE network.
Goetz Kerry E et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Sep -
Family History of Eating Disorder and the Broad Autism Phenotype in Autism.
Barrionuevo Bianca A et al. Autism research : official journal of the International Society for Autism Research 2020 Sep -
The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.
Fan Fan et al. BMC ophthalmology 2020 Sep 20(1) 361 -
Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação Marisa et al. International journal of molecular sciences 2020 Sep 21(17) -
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS.
Braunisch Matthias Christoph et al. European journal of human genetics : EJHG 2020 Sep -
Genomic risk scores for juvenile idiopathic arthritis and its subtypes.
Cánovas Rodrigo et al. Annals of the rheumatic diseases 2020 Sep -
Overview of Gene Therapy in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy.
Abreu Nicolas J et al. Pediatric pulmonology 2020 Sep
Cancer Genomics
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Precision Medicine for Breast Cancer Utilizing Circulating Tumor DNA: It Is in the Blood.
Miller Emily et al. Current treatment options in oncology 2020 Sep 21(11) 89 -
Conventional Cytogenetic Analysis of Hematologic Neoplasms: A 20-Year Review of Proficiency Test Results From the College of American Pathologists/American College of Medical Genetics and Genomics Cytogenetics Committee.
Larson Daniel P et al. Archives of pathology & laboratory medicine 2020 Jul -
Analysis of KRAS mutations in circulating tumor DNA and colorectal cancer tissue.
Liu Yankui et al. Biotechnic & histochemistry : official publication of the Biological Stain Commission 2020 Sep 1-8 -
Delineating the Complex Genomic Landscape of Multiple Myeloma Using Next-Generation Sequencing (NGS): Progress and Potential to Supersede Traditional Genetic Testing.
Garcia-Heras Jaime et al. Journal of the Association of Genetic Technologists 2020 46(3) 131-134 -
Biomarkers in Breast Cancer: An Integrated Analysis of Comprehensive Genomic Profiling and PD-L1 Immunohistochemistry Biomarkers in 312 Patients with Breast Cancer.
Huang Richard S P et al. The oncologist 2020 Sep -
Rate of change in investigational treatment options: An analysis of reports from a large precision oncology decision support effort.
Araya Alejandro et al. International journal of medical informatics 2020 Aug 143104261 -
A urine-based Exosomal gene expression test stratifies risk of high-grade prostate Cancer in men with prior negative prostate biopsy undergoing repeat biopsy.
McKiernan James et al. BMC urology 2020 Sep 20(1) 138 -
Construction of prognostic predictor by comprehensive analyzing alternative splicing events for colon adenocarcinoma.
Qu Yaqi et al. World journal of surgical oncology 2020 Sep 18(1) 236 -
Myeloid/Lymphoid Neoplasms with Eosinophilia and TK Fusion Genes, Version 3.2021, NCCN Clinical Practice Guidelines in Oncology.
Gerds Aaron T et al. Journal of the National Comprehensive Cancer Network : JNCCN 2020 Sep 18(9) 1248-1269
Hereditary Cancer
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Physical activity assessment among men undergoing genetic counseling for inherited prostate cancer: a teachable moment for improved survivorship.
Bruneau Michael et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2020 Sep -
Universal tumor screening for lynch syndrome: perspectives of patients regarding willingness and informed consent.
Subramonian Anusree et al. Personalized medicine 2020 Sep -
Mutations in ATM, NBN and BRCA2 predispose to aggressive prostate cancer in Poland.
Wokolorczyk Dominika et al. International journal of cancer 2020 Sep -
Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.
Bläker Hendrik et al. International journal of cancer 2020 Sep -
Multigene panel testing for hereditary breast and ovarian cancer in the province of Ontario.
Lerner-Ellis Jordan et al. Journal of cancer research and clinical oncology 2020 Sep -
Carriers of ABCB4 gene variants show a mild clinical course, but impaired quality of life and limited risk for cholangiocarcinoma.
de Vries Elsemieke et al. Liver international : official journal of the International Association for the Study of the Liver 2020 Sep -
Racial differences in genomic testing and receipt of endocrine therapy in early-stage breast cancer.
Ko Naomi Y et al. Breast cancer research and treatment 2020 Sep
Chronic Disease
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Behçet disease (BD) and BD-like clinical phenotypes: NF-kB pathway in mucosal ulcerating diseases.
Perazzio Sandro F et al. Scandinavian journal of immunology 2020 Sep e12973 -
Predicting progression to advanced age-related macular degeneration from clinical, genetic and lifestyle factors using machine learning.
Ajana Soufiane et al. Ophthalmology 2020 Sep
Ethics/Policy/Law
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Heritable Genome Editing Not Yet Ready to Be Tried Safely and Effectively in Humans; Initial Clinical Uses, If Permitted, Should Be Limited to Serious Single-Gene Diseases
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Ethics parallel research: an approach for (early) ethical guidance of biomedical innovation.
Jongsma Karin R et al. BMC medical ethics 2020 Sep 21(1) 81
Practice
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Genetic counseling service delivery models: A study of genetic counselors' interests, needs, and barriers to implementation.
Boothe Emily et al. Journal of genetic counseling 2020 Sep -
Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records.
Douville Nicholas J et al. British journal of anaesthesia 2020 Sep -
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings.
Reble Emma et al. Human genetics 2020 Sep -
Precision Health and Nursing: Seeing the Familiar in the Foreign.
Dewell Sarah et al. The Canadian journal of nursing research = Revue canadienne de recherche en sciences infirmieres 2020 Sep 52(3) 199-208
Heart, Lung, Blood and Sleep Diseases
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Lifestyle Moderates Genetic Risk of Venous Thromboembolism: The ARIC Study.
Evans Christina et al. Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120314668 -
Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
Raal Frederick J et al. Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120315040 -
An assessment of the continuing medical education needs of US physicians in the management of patients with beta thalassemia.
Stacy Sylvie et al. Annals of hematology 2020 Sep -
Recommendations for Pregnancy in Rare Inherited Anemias.
Taher Ali T et al. HemaSphere 2020 Aug 4(4) e446 -
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh Roddy et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Sep -
Genetics, prevalence, screening and confirmation of primary aldosteronism: a position statement and consensus of the Working Group on Endocrine Hypertension of The European Society of Hypertension.
Mulatero Paolo et al. Journal of hypertension 2020 Oct 38(10) 1919-1928 -
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Al-Hassnan Zuhair N et al. Circulation. Genomic and precision medicine 2020 Sep -
Chromosome 1q21.2 and additional loci influence risk of spontaneous coronary artery dissection and myocardial infarction.
Saw Jacqueline et al. Nature communications 2020 Sep 11(1) 4432 -
Gaps in the Care of Familial Hypercholesterolaemia in Australia: First Report From the National Registry.
Pang Jing et al. Heart, lung & circulation 2020 Aug -
Clinical Utility of a Phenotype Enhanced MYH7 -Specific Variant Classification Framework in Hypertrophic Cardiomyopathy Genetic Testing.
Mattivi Connor L et al. Circulation. Genomic and precision medicine 2020 Sep
Pharmacogenomics
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Using a pharmacogenetic clinical decision support system to improve psychopharmacotherapy dosing in patients with affective disorders.
Zastrozhin Michael et al. Drug metabolism and personalized therapy 2020 Sep -
The PNPLA3 rs738409 variant can increase the risk of liver toxicity in multiple sclerosis patients treated with beta-interferon.
Capone Fioravante et al. Clinical neurology and neurosurgery 2020 Aug 197106166 -
Clinical implementation of pharmacogenetics and personalized drug prescription based on e-health: the MedeA initiative.
LLerena Adrián et al. Drug metabolism and personalized therapy 2020 Sep
Reproductive Health
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How geneticists think about Differences/Disorders of Sexual Development (DSD): A conversation.
Byers Heather M et al. Journal of pediatric urology 2020 Aug -
Reproductive decision-making in the context of hereditary cancer: the effects of an online decision aid on informed decision-making.
Reumkens Kelly et al. Journal of community genetics 2020 Sep -
First Trimester Screening for Common Trisomies and Microdeletion 22q11.2 Syndrome Using Cell-Free DNA: A Prospective Clinical Study.
Kagan Karl Oliver et al. Fetal diagnosis and therapy 2020 Sep 1-11