Published on 07/02/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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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
Cancer
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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
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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
Chronic Disease
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Machine learning for genetic prediction of psychiatric disorders: a systematic review.
Bracher-Smith Matthew et al. Molecular psychiatry 2020 Jun
Ethics/Policy/Law
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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
Practice
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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
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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
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Pharmacogenomics and Personalized Medicine.
Cecchin Erika et al. Genes 2020 Jun 11(6)
Reproductive Health
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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)