Published on 11/05/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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
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
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
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
LawSeq: Facing the Legal Barriers to Genomic Research & Precision Medicine
December 2, 2020 ~ Webinar