Published on 10/17/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
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
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
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
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
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
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