Published on 09/05/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
Practical Approach to Genetic Testing for Primary Immunodeficiencies.
Chinen Javier et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2019 Aug
Syndromic Oral Clefts: Challenges of Genetic Assessment in Brazil and Suggestions to Improve Health Policies.
Gil-da-Silva-Lopes Vera Lúcia et al. Public health genomics 2019 Aug 1-7
Primary care physicians' understanding and utilization of pediatric exome sequencing results.
Mazzola Sarah E et al. Journal of genetic counseling 2019 Aug
Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo Go Hun et al. Journal of human genetics 2019 Aug
Synchronicity of genetic variants between primary sites and metastatic lymph nodes, and prognostic impact in nodal metastatic lung adenocarcinoma.
Ito Masaoki et al. Journal of cancer research and clinical oncology 2019 Sep 145(9) 2325-2333
Multi gene panel testing for hereditary breast cancer - is it ready to be used?
Catana Andreea et al. Medicine and pharmacy reports 2019 Jul 92(3) 220-225
Medication Use to Reduce Risk of Breast Cancer: US Preventive Services Task Force Recommendation Statement.
, et al. JAMA 2019 0 0. (9) 857-867
Yield of Lynch Syndrome Surveillance for Patients With Pathogenic Variants in DNA Mismatch Repair Genes.
Goverde A et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Aug
Tumor mutational burden assessed by targeted NGS predicts clinical benefit from immune checkpoint inhibitors in non-small cell lung cancer.
Alborelli Ilaria et al. The Journal of pathology 2019 Aug
From Somatic Variants Toward Precision Oncology: An Investigation of Reporting Practice for Next-Generation Sequencing-Based Circulating Tumor DNA Analysis.
Peng Rongxue et al. The oncologist 2019 Aug
An update on genetic risk assessment and prevention: the role of genetic testing panels in breast cancer.
Piccinin Carolyn et al. Expert review of anticancer therapy 2019 Aug
Next-generation sequencing for tumor mutation quantification using liquid biopsies.
Provencio Mariano et al. Clinical chemistry and laboratory medicine 2019 Aug
Therapeutic relevance of targeted sequencing in management of patients with advanced biliary tract cancer: DNA damage repair gene mutations as a predictive biomarker.
Chae Heejung et al. European journal of cancer (Oxford, England : 1990) 2019 Aug 12031-39
Fecal DNA Testing for Colorectal Cancer Screening.
Carethers John M et al. Annual review of medicine 2019 Aug
Cost-effectiveness analysis of reflex testing for Lynch syndrome in women with endometrial cancer in the UK setting.
Snowsill Tristan M et al. PloS one 2019 14(8) e0221419
Next-Generation Sequencing May Discriminate Extreme Long-term versus Short-term Survival in Patients with Metastatic Small Cell Lung Cancer (SCLC).
Lohinai Zoltan et al. Translational oncology 2019 Aug 12(12) 1539-1548
Gene?Prostate-Specific-Antigen-Guided Personalized Screening for Prostate Cancer.
Yang Teng-Kai et al. Genes 2019 Aug 10(9)
Universal Genetic Testing for All Breast Cancer Patients.
Copur Mehmet Sitki et al. Oncology (Williston Park, N.Y.) 2019 Aug 33(8)
Polygenic risk scores in schizophrenia with clinically significant copy number variants.
Taniguchi Satoru et al. Psychiatry and clinical neurosciences 2019 Aug
Familial disclosure by genetic healthcare professionals: a useful but sparingly used legal provision in France.
Derbez Benjamin et al. Journal of medical ethics 2019 Aug
Opportunities and Challenges in Interpreting and Sharing Personal Genomes.
Rubin Irit R et al. Genes 2019 Aug 10(9)
Exploration of genetic health professional - Laboratory specialist interactions in diagnostic genomic sequencing.
Vears Danya F et al. European journal of medical genetics 2019 Aug 103749
Application of ACMG criteria to classify variants in the human gene mutation database.
Qu Hui-Qi et al. Journal of human genetics 2019 Aug
Heart, Lung, Blood and Sleep Diseases
Turkish Society of Cardiology consensus report on recommendations for athletes with high-risk genetic cardiovascular diseases or implanted cardiac devices.
?zel Erdem et al. Anatolian journal of cardiology 2019 Sep 22(3) 140-151
Randomized clinical trial of computerized PAINRelieveIt® for patients with sickle cell disease: PAINReportIt® and PAINUCope®.
Dyal Brenda W et al. Patient education and counseling 2019 Aug
Towards Precision Medicine With Human iPSCs for Cardiac Channelopathies.
Wu Joseph C et al. Circulation research 2019 Aug 125(6) 653-658
The epidemiology of sickle cell disease in children recruited in infancy in Kilifi, Kenya: a prospective cohort study.
Uyoga Sophie et al. The Lancet. Global health 2019 Aug
Newborn Screening for Severe Combined Immunodeficiency.
Taki Mohammed et al. Pediatric clinics of North America 2019 Oct 66(5) 913-923
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Berrios Courtney et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Aug
A Decision-Theoretic Approach to Panel-Based, Preemptive Genotyping.
Shi Yaping et al. MDM policy & practice 4(2) 2381468319864337
Pharmacogenomics in the Nigerian population: the past, the present and the future.
Bolaji Oluseye O et al. Pharmacogenomics 2019 Aug 20(12) 915-926
Implementation of wide-scale pharmacogenetic testing in primary care.
Natasha Petry et al. Pharmacogenomics 2019 Aug 20(12) 903-913
Longitudinal exposure of English primary care patients to pharmacogenomic drugs: an analysis to inform design of pre-emptive pharmacogenomic testing.
Kimpton James E et al. British journal of clinical pharmacology 2019 Aug
Pharmacogenetics of opioids: a narrative review.
Kumar S et al. Anaesthesia 2019 Aug
Pharmacogenetics and Depression: A Critical Perspective.
Corponi Filippo et al. Psychiatry investigation 2019 Aug
Lower detectability of non-invasive prenatal testing compared to prenatal diagnosis in high-risk pregnant women.
Wang Jing et al. Annals of translational medicine 2019 Jul 7(14) 319
The assessment of combined karyotype analysis and chromosomal microarray in pregnant women of advanced maternal age: a multicenter study.
Shi Ye et al. Annals of translational medicine 2019 Jul 7(14) 318
Prenatal Diagnosis of Fetuses With Increased Nuchal Translucency by Genome Sequencing Analysis.
Choy Kwong Wai et al. Frontiers in genetics 2019 10761
When next-generation sequencing-based preimplantation genetic testing for aneuploidy (PGT-A) yields an inconclusive report: diagnostic results and clinical outcomes after re biopsy.
Neal Shelby A et al. Journal of assisted reproduction and genetics 2019 Aug