Published on 11/05/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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SARS-CoV-2 infection in a patient with propionic acidemia.
Caciotti Anna et al. Orphanet journal of rare diseases 2020 Oct 15(1) 306 -
Genetic-molecular characterization in the diagnosis of primary immunodeficiencies.
Segundo Gesmar Rodrigues Silva et al. Jornal de pediatria 2020 Oct -
Molecular Genetics involved in Neural Tube Defects: Recent Advances and Future Prospective for Molecular Medicine.
Mishra Pravash R et al. Neurology India 68(5) 1144-1150
Cancer Genomics
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Breast Cancer Index predicts extended endocrine benefit to individualize selection of HR+ early stage breast cancer patients for 10 years of endocrine therapy.
Noordhoek Iris et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Oct -
Challenges of the current precision medicine approach for pancreatic cancer: A single institution experience between 2013 and 2017.
Ding Ding et al. Cancer letters 2020 Oct -
Robust performance of a novel stool DNA test of methylated SDC2 for colorectal cancer detection: a multicenter clinical study.
Wang Jianping et al. Clinical epigenetics 2020 Oct 12(1) 162
Hereditary Cancer
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BRIP1, a gene potentially implicated in Familial Colorectal Cancer Type X.
Martin-Morales Lorena et al. Cancer prevention research (Philadelphia, Pa.) 2020 Oct -
Association between interleukin-10 gene polymorphisms and risk of oral carcinoma: A meta-analysis.
Li Fan et al. Histology and histopathology 2020 Oct 18275 -
Cost-effectiveness of Population-Wide Genomic Screening for Hereditary Breast and Ovarian Cancer in the United States.
Guzauskas Gregory F et al. JAMA network open 2020 Oct 3(10) e2022874 -
Pathology of Hereditary Breast and Ovarian Cancer.
Hodgson Anjelica et al. Frontiers in oncology 2020 10531790 -
Hereditary colorectal cancer screening: A 10-year longitudinal cohort study following an educational intervention.
Carroll June C et al. Preventive medicine reports 2020 Dec 20101189 -
Breast cancer polygenic risk scores in the clinical cancer genetic counseling setting: Current practices and impact on patient management.
McGuinness Molly et al. Journal of genetic counseling 2020 Oct -
ERCC3, a new ovarian cancer susceptibility gene?
Stradella Agostina et al. European journal of cancer (Oxford, England : 1990) 2020 Oct 1411-8 -
Genetic Variants of the TERT Gene, Telomere Length, and Circulating TERT as Prognostic Markers in Rectal Cancer Patients.
Rampazzo Enrica et al. Cancers 2020 Oct 12(11) -
Prevalence of germline BRCA mutations in HER2-negative metastatic breast cancer: global results from the real-world, observational BREAKOUT study.
O'Shaughnessy Joyce et al. Breast cancer research : BCR 2020 Oct 22(1) 114
Chronic Disease
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Social Media Use Among Young Adults With Connective Tissue Disorders: Cross-Sectional Pilot Study.
Kelleher Erin F et al. JMIR pediatrics and parenting 2020 Oct 3(2) e16367 -
Variants of FOXO3 and RPA3 genes affecting IGF-1 levels alter the risk of development of primary osteoarthritis.
Pelsma I C M et al. European journal of endocrinology 2020 Oct
Ethics/Policy/Law
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Ethical Considerations about Genomic Medicine Implementation: Lessons Learned from the eMERGE III Study.
Inamura Kentaro et al. Journal of personalized medicine 2020 Oct 10(4) -
False Alarms in Consumer Genomics Add to Public Fear and Potential Health Care Burden.
Liu Xiaoming et al. Journal of personalized medicine 2020 Oct 10(4) -
Africa's people must be able to write their own genomics agenda.
et al. Nature 2020 Oct 586(7831) 644
Practice
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Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease.
Marshall Christian R et al. NPJ genomic medicine 2020 547 -
Strategic vision for improving human health at The Forefront of Genomics.
Green Eric D et al. Nature 2020 Oct 586(7831) 683-692 -
A narrative literature review: Growing the workforce through increased fieldwork capacity in genetic counseling training programs.
Berninger Taylor et al. Journal of genetic counseling 2020 Oct
Heart, Lung, Blood and Sleep Diseases
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Current Medical Management of Hereditary Angioedema: Follow-up Survey of US Physicians.
Riedl Marc A et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2020 Oct -
Under-Reporting of Family History of Premature Coronary Artery Disease in Patients Discharged From Coronary Care: Implications for the Detection of Familial Hypercholesterolaemia.
Goh Yuhan A et al. Heart, lung & circulation 2020 Oct -
Considering complexity in the genetic evaluation of dilated cardiomyopathy.
Jordan Elizabeth et al. Heart (British Cardiac Society) 2020 Oct -
Efficacy and safety of oral hydroxyurea in transfusion-dependent β-thalassaemia: a protocol for randomised double-blind controlled clinical trial.
Yasara Nirmani et al. BMJ open 2020 Oct 10(10) e041958 -
Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations.
Giardine Belinda M et al. Nucleic acids research 2020 Oct -
Comorbidity Associations with AATD Among Commercially Insured and Medicare Beneficiaries with COPD in the US.
Sandhaus Robert et al. International journal of chronic obstructive pulmonary disease 2020 152389-2397 -
Integrating Datasets on Public Health and Clinical Aspects of Sickle Cell Disease for Effective Community-Based Research and Practice.
Isokpehi Raphael D et al. Diseases (Basel, Switzerland) 2020 Oct 8(4) -
Spontaneous Coronary Artery Dissection: Insights on Rare Genetic Variation from Genome Sequencing.
Carss Keren J et al. Circulation. Genomic and precision medicine 2020 Oct
Newborn Screening
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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas Trine et al. International journal of neonatal screening 2020 Sep 6(3) 51 -
Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II.
Bilyeu Heather et al. International journal of neonatal screening 2020 Oct 6(4) -
The Clinical Impact of CLIR Tools toward Rapid Resolution of Post-Newborn Screening Confirmatory Testing for X-Linked Adrenoleukodystrophy in California.
Tang Hao et al. International journal of neonatal screening 2020 Sep 6(3) 62 -
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update.
Burton Barbara K et al. International journal of neonatal screening 2020 Sep 6(3) 73 -
The Success of a Screening Program Is Largely Dependent on Close Collaboration between the Laboratory and the Clinical Follow-Up of the Patients.
Lajic Svetlana et al. International journal of neonatal screening 2020 Sep 6(3) 68 -
Screening for sickle cell disease in newborns: a systematic review.
Runkel Britta et al. Systematic reviews 2020 Oct 9(1) 250
Pharmacogenomics
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Primary care and mental health providers' perceptions of implementation of pharmacogenetics testing for depression prescribing.
Vest Bonnie M et al. BMC psychiatry 2020 Oct 20(1) 518 -
Unraveling heterogeneity of the clinical pharmacogenomic guidelines in oncology practice among major regulatory bodies.
Nagy Mohamed et al. Pharmacogenomics 2020 Oct -
The inclusion of health data standards in the implementation of pharmacogenomics systems: a scoping review.
Roosan Don et al. Pharmacogenomics 2020 Oct -
Digital Health Applications for Pharmacogenetic Clinical Trials.
Naik Hetanshi et al. Genes 2020 Oct 11(11) -
Serotonin transporter gene promoter hypomethylation as a predictor of antidepressant treatment response in major depression - a replication study.
Schiele M A et al. The international journal of neuropsychopharmacology 2020 Oct -
Pharmacogenomics in the UK National Health Service: opportunities and challenges.
Turner Richard M et al. Pharmacogenomics 2020 Oct -
Pre-therapeutic UGT1A1 genotyping to reduce the risk of irinotecan-induced severe toxicity: Ready for prime time.
Hulshof Emma C et al. European journal of cancer (Oxford, England : 1990) 2020 Oct 1419-20
Reproductive Health
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Web-Based Training for Nurses on Shared Decision Making and Prenatal Screening for Down Syndrome: Protocol for a Randomized Controlled Trial.
Poulin Herron Alex et al. JMIR research protocols 2020 Oct 9(10) e17878 -
Systematic review of genome-wide association studies on susceptibility to endometriosis.
Cardoso Jéssica Vilarinho et al. European journal of obstetrics, gynecology, and reproductive biology 2020 Oct 25574-82 -
Personalized prenatal genomic testing: Couples' experience with choice regarding uncertain and adult-onset findings from chromosomal-microarray-analysis.
Millo Talya et al. Prenatal diagnosis 2020 Oct
Eventr
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LawSeq: Facing the Legal Barriers to Genomic Research & Precision Medicine
December 2, 2020 ~ Webinar