Published on 04/25/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G et al. Neurologia (Barcelona, Spain) 2019 Apr
Can simple and low-cost motor function assessments help in the diagnostic suspicion of Duchenne muscular dystrophy?
Pereira Aline Chacon et al. Jornal de pediatria 2019 Apr
Improving follow up after predictive testing in Huntington's disease: evaluating a genetic counselling narrative group session.
Stopford Cheryl et al. Journal of community genetics 2019 Apr
A four-gene signature for prognosis in breast cancer patients with hypermethylated IL15RA.
Yang Hui et al. Oncology letters 2019 May 17(5) 4245-4254
Clinical Utility of Comprehensive Cell-Free DNA Analysis to Identify Genomic Biomarkers in Patients with Newly Diagnosed Metastatic Non-Small Cell Lung Cancer.
Leighl Natasha B et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Apr
Implication of DNA repair genes in Lynch-like syndrome.
Xicola Rosa M et al. Familial cancer 2019 Apr
Heritability and genome-wide association study of benign prostatic hyperplasia (BPH) in the eMERGE network.
Hellwege Jacklyn N et al. Scientific reports 2019 Apr 9(1) 6077
Impact of Implementing B-RST TM to Screen for Hereditary Breast and Ovarian Cancer on Risk Perception and Genetic Counseling Uptake Among Women in an Academic Safety Net Hospital.
Wernke Karen et al. Clinical breast cancer 2019 Mar
EGFR and KRAS Mutations in the Non-Tumoral Lung. Prognosis in Patients with Adenocarcinoma.
Chalela Roberto et al. Journal of clinical medicine 2019 Apr 8(4)
The Status and Impact of Clinical Tumor Genome Sequencing.
Shaw Kenna R Mills et al. Annual review of genomics and human genetics 2019 Apr
A 19‑miRNA Support Vector Machine classifier and a 6‑miRNA risk score system designed for ovarian cancer patients.
Dong Jingwei et al. Oncology reports 2019 Apr
Circulating obesity-driven biomarkers are associated with risk of clear cell renal cell carcinoma: a two-stage, case-control study.
Wang Qinchuan et al. Carcinogenesis 2019 Apr
Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.
Bouvet Delphine et al. Gastroenterology 2019 Apr
Potential risk factors of ovarian cancer and analysis of CA125, a biomarker used for its monitoring and diagnosis.
Mansha Muhammad et al. Molecular biology reports 2019 Apr
Personalized detection of circulating tumor DNA antedates breast cancer metastatic recurrence.
Coombes Charles et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2019 Apr
Regular use of aspirin and other non-steroidal anti-inflammatory drugs and breast cancer risk for women at familial or genetic risk: a cohort study.
Kehm Rebecca D et al. Breast cancer research : BCR 2019 Apr 21(1) 52
Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result.
Leof Emma R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr
Comparison of diagnostic methods for the detection of a BRAF mutation in papillary thyroid cancer.
Zhao Jingzhu et al. Oncology letters 2019 May 17(5) 4661-4666
Genetic risk factors identified in populations of European descent do not improve the prediction of osteoporotic fracture and bone mineral density in Chinese populations.
Li Yu-Mei et al. Scientific reports 2019 Apr 9(1) 6086
Clinical utility of genomic analysis in adults with idiopathic liver disease.
Hakim Aaron et al. Journal of hepatology 2019 Apr
Effect of genetic polymorphisms on Alzheimer's disease treatment outcomes: an update.
Sumirtanurdin Riyadi et al. Clinical interventions in aging 2019 14631-642
Research participants' preferences for receiving genetic risk information: a discrete choice experiment.
Viberg Johansson Jennifer et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Apr
Young adults' attitudes to sharing whole-genome sequencing information: a university-based survey.
Barnard Pepita et al. BMC medical genomics 2019 Apr 12(1) 55
Older Teens' Understanding and Perceptions of Risks in Studies With Genetic Testing: A Pilot Study.
Ittenbach Richard F et al. AJOB empirical bioethics 2019 Apr 1-9
Psychological Impact of Learning CDKN2A Variant Status as a Genetic Research Result.
Zhu Xuan et al. Public health genomics 2019 Apr 21(3-4) 154-163
Heart, Lung, Blood and Sleep Diseases
Polygenic risk scores in coronary artery disease.
Rao Abhiram S et al. Current opinion in cardiology 2019 Apr
VEGFR2 and OPG genes modify the risk of subclinical coronary atherosclerosis in patients with familial hypercholesterolemia.
Miramontes-González José Pablo et al. Atherosclerosis 2019 Mar 28517-22
Precision medicine in obstructive sleep apnoea.
Martinez-Garcia Miguel Angel et al. The Lancet. Respiratory medicine 2019 Apr
A robust data-driven genomic signature for idiopathic pulmonary fibrosis with applications for translational model selection.
Ammar Ron et al. PloS one 2019 14(4) e0215565
Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.
Norrish Gabrielle et al. Circulation 2019 Apr
Evaluation of gene panels for inherited cardiac disease-is less more?
Dooijes D et al. Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation 2019 Apr
Whole-Exome Sequencing Reveals Novel Genetic Variation for Dilated Cardiomyopathy in Pediatric Chinese Patients.
Dai Genyin et al. Pediatric cardiology 2019 Apr
A model-based economic evaluation of four newborn screening strategies for cystic fibrosis in Flanders, Belgium.
Schmidt Masja et al. Acta clinica Belgica 2019 Apr 1-9
Effect of CYP2D6 genotype on exposure and efficacy of risperidone and aripiprazole: a retrospective, cohort study.
Jukic Marin M et al. The lancet. Psychiatry 2019 May 6(5) 418-426
Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2B6 and Efavirenz-containing Antiretroviral Therapy.
Desta Zeruesenay et al. Clinical pharmacology and therapeutics 2019 Apr
Pereira Naveen L et al. Circulation. Cardiovascular interventions 2019 Apr 12(4) e007811
The Effect of Beta-2 Adrenergic Receptor Genetic Variants on Vasopressor Requirements in Surgery Patients: A Meta-analysis.
Pan Qi Zheng et al. Biomedical and environmental sciences : BES 2019 Mar 32(3) 226-230
FARMAPRICE: A Pharmacogenetic Clinical Decision Support System for Precise and Cost-Effective Therapy.
Roncato Rossana et al. Genes 2019 Apr 10(4)
Enantiospecific pharmacogenomics of fluvastatin.
Hirvensalo Päivi et al. Clinical pharmacology and therapeutics 2019 Apr
The Importance of Reliable Quality Control Materials for Noninvasive Prenatal Testing.
Sistermans Erik A et al. Clinical chemistry 2019 Apr
Discovery of non-invasive biomarkers for the diagnosis of endometriosis.
Irungu Stella et al. Clinical proteomics 2019 1614
Carrier screening for spinal muscular atrophy with a simple test based on melting analysis.
Xia Zhongmin et al. Journal of human genetics 2019 May 64(5) 387-396
Preferences for aspects of antenatal and newborn screening: a systematic review.
Vass Caroline M et al. BMC pregnancy and childbirth 2019 Apr 19(1) 131