Published on 07/02/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
Utility of a Genetic Screening Panel in Patients With Suspected Inherited Retinal Dystrophies.
McGowan Heather et al. Ophthalmic surgery, lasers & imaging retina 2020 Jun 51(6) 338-345
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
et al. JAMA 2020 323(24) 2503-2511
Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.
Obeidova Lena et al. PloS one 2020 15(6) e0235071
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Palmieri Maria et al. Vascular 2020 Jun 1708538120936421
Whole-genome sequencing of patients with rare diseases in a national health system.
Turro Ernest et al. Nature 2020 Jun
Awareness of genetic testing for children with autism spectrum disorder among caregivers in an autism support group.
Zebolsky Aaron et al. Journal of community genetics 2020 Jun
Do Subjective Norms Predict the Screening of Cancer Patients' First-Degree Relatives? A Systematic Review and Meta-Analysis.
Fattahi Ardakani Mojtaba et al. Asian Pacific journal of cancer prevention : APJCP 2020 Jun 21(6) 1521-1530
Cost-Effectiveness and Net Monetary Benefit of olaparib Maintenance Therapy Versus No Maintenance Therapy After First-Line Platinum-Based Chemotherapy in Newly Diagnosed Advanced BRCA1/2-Mutated Ovarian Cancer in the Italian National Health Service.
Patrizio Armeni et al. Clinical therapeutics 2020 Jun
A systematic review of communication interventions to help healthcare professionals discuss genetic testing for breast cancer.
Starkings Rachel et al. Breast cancer research and treatment 2020 Jun
Guide to Hereditary Cancer Indications for Referral
Management strategies for the colonoscopic surveillance of people with Lynch syndrome during the COVID-19 pandemic.
Monahan Kevin J et al. Gut 2020 Jun
Population-based screening for BRAF V600E in metastatic colorectal cancer reveals increased prevalence and poor prognosis.
Chu Jenny E et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Jun
Identification of novel Lynch syndrome mutations in Chinese patients with endometriod endometrial cancer.
Ren Caixia et al. Cancer biology & medicine 2020 May 17(2) 458-467
Real world data analysis of next generation sequencing and protein expression in metastatic breast cancer patients.
Hempel Dirk et al. Scientific reports 2020 Jun 10(1) 10459
Does Mode of Surgical Intervention Based on Oncotype DX Score Influence Disease Recurrence in Early Breast Cancer?
Aherne T M et al. Surgery journal (New York, N.Y.) 2020 Apr 6(2) e135-e138
Clinicopathologic features of endometrial cancer with mismatch repair deficiency.
Gordhandas Sushmita et al. Ecancermedicalscience 2020 141061
A genetic risk score to personalize prostate cancer screening, applied to population data.
Huynh-Le Minh-Phuong et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Jun
Relationship between genetic knowledge and familial communication of CRC risk and intent to communicate CRCP genetic information: insights from FamilyTalk eMERGE III.
Makhnoon Sukh et al. Translational behavioral medicine 2020 Jun
Molecular genetic profiling reveals novel association between FLT3 mutation and survival in glioma.
Shee Kevin et al. Journal of neuro-oncology 2020 Jun
Machine learning for genetic prediction of psychiatric disorders: a systematic review.
Bracher-Smith Matthew et al. Molecular psychiatry 2020 Jun
GenoShare: Supporting Privacy-Informed Decisions for Sharing Individual-Level Genetic Data.
Raisaro Jean Louis et al. Studies in health technology and informatics 2020 Jun 270238-241
The openEHR Genomics Project.
Mascia Cecilia et al. Studies in health technology and informatics 2020 Jun 270443-447
Polygenic risk scores, prediction of psychiatric disorders, and the health of all of us.
Parens Erik et al. The lancet. Psychiatry 2020 7(6) 481
Who we are, what we do, and how we add value: The role of the genetic counseling 'philosophy of practice' statement in a changing time.
McEwen Alison et al. Journal of genetic counseling 2020 Jun
A Maturity Matrix for Nurse Leaders to Facilitate and Benchmark Progress in Genomic Healthcare Policy, Infrastructure, Education, and Delivery.
Tonkin Emma et al. Journal of nursing scholarship : an official publication of Sigma Theta Tau International Honor Society of Nursing 2020 Jun
Public interest in whole genome sequencing and information needs: an online survey study.
Etchegary Holly et al. Personalized medicine 2020 Jun
Patients' Perspectives on Psychiatric Pharmacogenetic Testing.
Liko Ina et al. Pharmacopsychiatry 2020 Jun
Exome and genome sequencing in adults with undiagnosed disease: a prospective cohort study.
Shickh Salma et al. Journal of medical genetics 2020 Jun
Heart, Lung, Blood and Sleep Diseases
Preliminary Evaluation of a mHealth Coaching Conversational Artificial Intelligence for the Self-Care Management of People with Sickle-Cell Disease.
Issom David-Z et al. Studies in health technology and informatics 2020 Jun 2701361-1362
Alpha-1 Antitrypsin Deficiency: a Rare Disease?
Cortes-Lopez Roxana et al. Current allergy and asthma reports 2020 Jun 20(9) 51
Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling.
Abdullah Uday Y H et al. Hemoglobin 2020 Jun 1-6
Parents of Children with Sickle Cell Disease Are Interested in Preimplantation Genetic Testing.
Attia Monica et al. The Journal of pediatrics 2020 Jun
Pharmacogenomics and Personalized Medicine.
Cecchin Erika et al. Genes 2020 Jun 11(6)
Genetic diagnoses and associated anomalies in fetuses prenatally diagnosed with esophageal atresia.
Rohanizadegan Mersedeh et al. American journal of medical genetics. Part A 2020 Jun
Preimplantation Genetic Testing: Where We Are Today.
Greco Ermanno et al. International journal of molecular sciences 2020 Jun 21(12)