Published on 10/17/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting.
Gravholt Claus H et al. European journal of endocrinology 2017 177(3) G1-G70 -
Application of the 2017 criteria for vascular Ehlers-Danlos syndrome in 50 patients ascertained according to the Villefranche nosology.
Ritelli Marco et al. Clinical genetics 2019 Oct
Cancer
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Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial.
Shickh Salma et al. BMJ open 2019 Oct 9(10) e031092 -
Efficacy of molecularly targeted agents given in the randomised trial SHIVA01 according to the ESMO Scale for Clinical Actionability of molecular Targets.
Moreira A et al. European journal of cancer (Oxford, England : 1990) 2019 Oct 121202-209 -
The predicted impact and cost-effectiveness of systematic testing of people with incident colorectal cancer for Lynch syndrome.
Kang Yoon-Jung et al. The Medical journal of Australia 2019 Oct -
Human Epidermal Growth Factor Receptor 2 Overexpression in Micropapillary and Other Variants of Urothelial Carcinoma.
Behzatoglu Kemal et al. European urology focus 2018 4(3) 399-404 -
Guidelines for Pathologic Diagnosis of Malignant Mesothelioma 2017 Update of the Consensus Statement From the International Mesothelioma Interest Group.
Husain Aliya Noor et al. Archives of pathology & laboratory medicine 2018 Jan 142(1) 89-108 -
Recommendations for biomarker testing in epithelial ovarian cancer: a National Consensus Statement by the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
Oaknin A et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2018 Mar 20(3) 274-285 -
Do Women who Receive a Negative BRCA1/2 Risk Result Understand the Implications for Breast Cancer Risk?
Guan Yue et al. Public health genomics 2019 Oct 1-8 -
Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery.
Jeffers Lisa et al. The Cochrane database of systematic reviews 2019 Oct 10CD012894 -
Endoscopic management of Lynch syndrome and of familial risk of colorectal cancer: European Society of Gastrointestinal Endoscopy (ESGE) Guideline.
van Leerdam Monique E et al. Endoscopy 2019 Oct -
Updated guidelines for predictive biomarker testing in advanced non-small-cell lung cancer: a National Consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology.
Garrido P et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2019 Oct -
Germline mutation in DNA-repair genes is associated with poor survival in BRCA1/2-negative breast cancer patients.
Fan Zhenhua et al. Cancer science 2019 Oct 110(10) 3368-3374 -
Clinical Practice Use of Liquid Biopsy to Identify RAS/BRAF Mutations in Patients with Metastatic Colorectal Cancer (mCRC): A Single Institution Experience.
Vitiello Pietro Paolo et al. Cancers 2019 Oct 11(10) -
An electronic family health history tool to identify and manage patients at increased risk for colorectal cancer: protocol for a randomized controlled trial.
Goldstein Karen M et al. Trials 2019 Oct 20(1) 576 -
EGFR T790M ctDNA testing platforms and their role as companion diagnostics: Correlation with clinical outcomes to EGFR-TKIs.
Liang Zhiyong et al. Cancer letters 2017 403186-194 -
Patterns and Predictors of Genetic Referral among Ovarian Cancer Patients at a National Cancer Institute Comprehensive Cancer Center.
Mallen Adrianne R et al. Clinical genetics 2019 Oct
Chronic Disease
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EXPLORATORY ANALYSIS OF POLYGENIC RISK SCORES FOR PSYCHIATRIC DISORDERS: APPLIED TO DUAL DIAGNOSIS.
Martínez-Magaña José J et al. Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion 2019 71(5) 321-329 -
Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group.
Wu Calvin C et al. The Journal of clinical endocrinology and metabolism 2017 102(9) 3111-3123 -
Clinical Consensus Guidelines on the Application of Cerebrospinal Fluid Biomarkers for Alzheimer's Disease Diagnosis: Recommendations of the Irish Network for Biomarkers in Neurodegeneration.
Miller A M et al. Irish medical journal 2016 Dec 109(10) 483 -
Next Generation Sequencing Targeted Gene Panel in Greek MODY patients increases diagnostic accuracy.
Tatsi Elizabeth Barbara et al. Pediatric diabetes 2019 Oct -
Familial implications of autoimmune disease: Recurrence risks of alopecia areata and associated conditions in first-degree relatives.
Agre Katherine et al. Journal of genetic counseling 2019 Oct
Ethics/Policy/Law
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The Web of Legal Protections for Participants in Genomic Research.
Wolf Leslie E et al. Health matrix (Cleveland, Ohio : 1991) 2019 29(1) -
Media Coverage of Ethical Issues in Predictive Genetic Testing: A Qualitative Analysis.
Zimmermann Bettina et al. AJOB empirical bioethics 2019 Oct 1-15
Practice
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Direct-to-consumer genetic testing: advantages and pitfalls.
Oh Bermseok et al. Genomics & informatics 2019 Sep 17(3) e33 -
Exploring professional issues: the psychosocial component of genetic counseling in genomic healthcare.
Benjamin Caroline et al. Personalized medicine 2019 Oct
Heart, Lung, Blood and Sleep Diseases
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Cases in Precision Medicine: A Personalized Approach to Stroke and Cardiovascular Risk Assessment in Women.
Bello Natalie A et al. Annals of internal medicine 2019 Oct -
Update on Long QT Syndrome.
Neira Víctor et al. Journal of cardiovascular electrophysiology 2019 Oct -
2017 Focused Update of the 2016�ACC�Expert Consensus Decision Pathway on the Role of Non-Statin Therapies for LDL-Cholesterol Lowering in�the Management of Atherosclerotic Cardiovascular Disease Risk: A Report of the American College of Cardiology Task Force on Expert Consensus Decision Pathways.
Lloyd-Jones Donald M et al. Journal of the American College of Cardiology 2017 Oct 70(14) 1785-1822
Newborn Screening
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Lymphocyte reference intervals in the era of newborn screening (NBS).
Fleisher Thomas A et al. The Journal of allergy and clinical immunology 2019 Oct -
The implementation of newborn screening for spinal muscular atrophy: the Australian experience.
Kariyawasam Didu S T et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct -
One year of newborn screening for SMA - Results of a German pilot project.
Vill Katharina et al. Journal of neuromuscular diseases 2019 Sep -
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targets.
Azzopardi Paul J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct
Pharmacogenomics
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Integrating pharmacogenomics into the electronic health record by implementing genomic indicators.
Caraballo Pedro J et al. Journal of the American Medical Informatics Association : JAMIA 2019 Oct -
Repurposing of diagnostic whole exome sequencing data of 1,583 individuals for clinical pharmacogenetics.
van der Lee Maaike et al. Clinical pharmacology and therapeutics 2019 Oct -
CYP2D6 Genotype-guided Metoprolol Therapy in Cardiac Surgery Patients: Rationale and Design of the Pharmacogenetic-guided Metoprolol Management for Postoperative Atrial Fibrillation in Cardiac Surgery (PREEMPTIVE) Pilot Study.
Dunham Wills C et al. Journal of cardiothoracic and vascular anesthesia 2019 Sep -
Systematic review of the evidence on the cost-effectiveness of pharmacogenomics-guided treatment for cardiovascular diseases.
Zhu Ye et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Oct
Reproductive Health
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Patients' preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks.
Pastore L M et al. Human reproduction open 2019 2019(4) hoz019 -
An Analytical Mobile App for Shared Decision Making About Prenatal Screening: Protocol for a Mixed Methods Study.
Abbasgholizadeh Rahimi Samira et al. JMIR research protocols 2019 Oct 8(10) e13321