Published on 01/09/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Communication of genetic information to at-risk relatives during the multidisciplinary monitoring of vascular Ehlers-Danlos syndrome in a French referral clinic.
Mazzella Jean-Michaël et al. Journal of genetic counseling 2020 Jan
Screening for Fabry disease in patients with left ventricular noncompaction.
Azevedo Olga et al. Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of Cardiology 2020 Jan
Six-gene-based prognostic model predicts overall survival in patients with uveal melanoma.
Wan Qi et al. Cancer biomarkers : section A of Disease markers 2019 Dec
Identification of a 13‑mRNA signature for predicting disease progression and prognosis in patients with bladder cancer.
Yin Hubin et al. Oncology reports 2019 Dec
Contralateral Breast Cancer and Ipsilateral Breast Tumor Recurrence in BRCA1/2 Carriers and Non-Carriers at High-Risk of Hereditary Breast Cancer.
Yoon Kyung-Hwak et al. Journal of breast cancer 2019 Dec 22(4) 587-598
Prognostic Role of KRAS mRNA Expression in Breast Cancer.
Hwang Ki-Tae et al. Journal of breast cancer 2019 Dec 22(4) 548-561
Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank.
Abul-Husn Noura S et al. Genome medicine 2019 Dec 12(1) 2
Somatic mismatch repair testing in evaluation of Lynch syndrome: The gap between preferred and current practices.
Williams Danielle et al. Journal of genetic counseling 2020 Jan
Predictors of contralateral prophylactic mastectomy in genetically high risk newly diagnosed breast cancer patients.
Tynan Mara et al. Breast cancer research and treatment 2020 Jan
Diagnostic value of seven biomarkers for breast cancer: an overview with evidence mapping and indirect comparisons of diagnostic test accuracy.
Gao Ya et al. Clinical and experimental medicine 2020 Jan
Three-microRNA expression signature predicts survival in triple-negative breast cancer.
Wu Xinquan et al. Oncology letters 2020 Jan 19(1) 301-308
Prognostic implications of the BRAF-V600 E mutation in papillary thyroid carcinoma based on a new cut-off age stratification.
Gan Xiaoxiong et al. Oncology letters 2020 Jan 19(1) 631-640
A Genetic Risk Score for the Estimation of Weight Loss After Bariatric Surgery.
Katsareli E A et al. Obesity surgery 2020 Jan
Broad consent under the GDPR: an optimistic perspective on a bright future.
Hallinan Dara et al. Life sciences, society and policy 2020 Jan 16(1) 1
Beyond Mendelian Genetics: Anticipatory Biomedical Ethics and Policy Implications for the Use of CRISPR Together with Gene Drive in Humans.
Nestor Michael W et al. Journal of bioethical inquiry 2020 Jan
Heart, Lung, Blood and Sleep Diseases
Cystic fibrosis in the year 2020: a disease with a new face.
De Boeck Kris et al. Acta paediatrica (Oslo, Norway : 1992) 2020 Jan
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action.
et al. JAMA cardiology 2020 Jan
Familial Hypercholesterolaemia in a Bulgarian Population of Patients with Dyslipidaemia and Diabetes: An Observational Study.
Tankova Tsvetalina et al. Diabetes therapy : research, treatment and education of diabetes and related disorders 2020 Jan
Simple Test, Complex System: Multifaceted Views of Newborn Screening Science, Technology, and Policy.
Chan Kee et al. Global pediatric health 2019 62333794X19894812
Genetic Variants Associated with T-Cell Mediated Cutaneous Adverse Drug Reactions: A Prisma-Compliant Systematic Review - an EAACI Position Paper.
Oussalah Abderrahim et al. Allergy 2020 Jan
Pharmacogenomic Testing in Psychiatry: Ready for Primetime?
Rakesh Gopalkumar et al. The Journal of nervous and mental disease 2019 Dec
PGxCorpus, a manually annotated corpus for pharmacogenomics.
Legrand Joël et al. Scientific data 2020 7(1) 3
Translation of pharmacogenomic drug labels into the clinic. Current problems.
Ingelman-Sundberg Magnus et al. Pharmacological research 2019 Dec 104620
The impact of invasive prenatal testing on anxiety and sleep quality in pregnant women with a screen-positive result for aneuploidy.
Akbas Murat et al. Journal of psychosomatic obstetrics and gynaecology 2020 Jan 1-7
Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.
Öztürk Filiz Halici et al. Fetal and pediatric pathology 2020 Jan 1-9