Published on 06/27/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Increasing phenotypic annotation improves the diagnostic rate of exome sequencing in a rare neuromuscular disorder.
Thompson Rachel et al. Human mutation 2019 Jun -
The Incontinentia Pigmenti Genetic Biobank: study design and cohort profile to facilitate research into a rare disease worldwide.
Fusco Francesca et al. European journal of human genetics : EJHG 2019 Jun -
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Baudhuin Linnea M et al. European journal of human genetics : EJHG 2019 Jun -
Xeroderma pigmentosum.
Zghal M et al. Annales de dermatologie et de venereologie 2018 Nov 145(11) 706-722 -
Predictive model of response to tafamidis in hereditary ATTR polyneuropathy.
Monteiro Cecília et al. JCI insight 2019 Jun 4(12) -
High-Throughput Screening for CYP21A1P-TNXA/TNXB Chimeric Genes Responsible for Ehlers Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia.
Lao Qizong et al. The Journal of molecular diagnostics : JMD 2019 Jun
Cancer
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The effect of Oncotype DX ® on adjuvant chemotherapy treatment decisions in early breast cancer.
Rabie M A et al. Annals of the Royal College of Surgeons of England 2019 Jun 1-6 -
BRCA mutation characteristics in a series of index cases of breast cancer selected independent of family history.
Bisgin Atil et al. The breast journal 2019 Jun -
Revisiting Non-BRCA1/2 Familial Whole Exome Sequencing Datasets Implicates NCK1 as a Cancer Gene.
Yin Jie et al. Frontiers in genetics 2019 10527 -
Biomarker profiling for breast cancer detection: translational research to determine acceptance of a novel breast cancer screening technique.
Carcioppolo Nick et al. Health systems (Basingstoke, England) 2019 8(1) 44-51 -
MRI versus mammography for breast cancer screening in women with familial risk (FaMRIsc): a multicentre, randomised, controlled trial.
Saadatmand Sepideh et al. The Lancet. Oncology 2019 Jun -
Prospective Comprehensive Genomic Profiling of Primary and Metastatic Prostate Tumors.
Chung Jon H et al. JCO precision oncology 2019 3 -
Differences in referral patterns based on race for women at high-risk for ovarian cancer in the southeast: Results from a Gynecologic Cancer Risk Assessment Clinic.
Boitano Teresa K L et al. Gynecologic oncology 2019 Jun -
Impact on clinical practice of a non-invasive gene expression melanoma rule-out test: 12-month follow-up of negative test results and utility data from a large US registry study.
Ferris Laura K et al. Dermatology online journal 2019 May 25(5) -
A genomics-informed computational biology platform prospectively predicts treatment responses in AML and MDS patients.
Drusbosky Leylah M et al. Blood advances 2019 Jun 3(12) 1837-1847 -
Clinical and Pathological Characterization of Lynch-Like Syndrome.
Picó Maria Dolores et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2019 Jun -
Ability of known susceptibility SNPs to predict colorectal cancer risk for persons with and without a family history.
Jenkins Mark A et al. Familial cancer 2019 Jun -
Comparing theory and non-theory based implementation approaches to improving referral practices in cancer genetics: a cluster randomised trial protocol.
Morrow April et al. Trials 2019 Jun 20(1) 373 -
Healthcare professionals' attitudes toward cancer precision medicine: A systematic review.
Vetsch J et al. Seminars in oncology 2019 Jun
Chronic Disease
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Survey of practice patterns for the management of ophthalmic genetic disorders among AAPOS members: report by the AAPOS Genetic Eye Disease Task Force.
Drack Arlene V et al. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2019 Jun -
A Long-Term Follow-Up Study on Disclosing Genetic Risk Information (APOE) to Promote Healthy Lifestyles in Finland.
Hietaranta-Luoma Hanna-Leena et al. Lifestyle genomics 2019 Jun 1-8 -
Congruency of Genetic Predisposition to Lactase Persistence and Lactose Breath Test.
Coluccia Enza et al. Nutrients 2019 Jun 11(6) -
Clinical use of [TIMP-2][IGFBP7] biomarker testing to assess risk of acute kidney injury in critical care: guidance from an expert panel.
Guzzi Louis M et al. Critical care (London, England) 2019 Jun 23(1) 225 -
Genetic Risk Score in Diabetes Associated With Chronic Pancreatitis Versus Type 2 Diabetes Mellitus.
Goodarzi Mark O et al. Clinical and translational gastroenterology 2019 Jun -
The Role of Genetic Factors in Characterizing Extra-Intestinal Manifestations in Crohn's Disease Patients: Are Bayesian Machine Learning Methods Improving Outcome Predictions?
Bottigliengo Daniele et al. Journal of clinical medicine 2019 Jun 8(6)
Ethics/Policy/Law
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Negotiating requests for reimbursement for community engagement: challenges in developing an educational video for genomic biobanking research in South Africa.
Staunton Ciara et al. Journal of empirical research on human research ethics : JERHRE 2019 Jun 1556264619856223 -
The Human Right to Science and the Regulation of Human Germline Engineering.
Boggio Andrea et al. The CRISPR journal 2019 Jun 2134-142 -
Personally Collected Health Data for Precision Medicine and Longitudinal Research.
D'Antrassi Pierluigi et al. Frontiers in medicine 2019 6125 -
Do human subject safeguards matter to potential participants in psychiatric genetic research?
Roberts Laura Weiss et al. Journal of psychiatric research 2019 Jun 11695-103 -
Polygenic risk-stratified screening for cancer: Responsibilization in public health genomics.
Kerr Anne et al. Social studies of science 2019 Jun 306312719858404
Practice
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How to inform relatives at risk of hereditary diseases? A mixed-methods systematic review on patient attitudes.
van den Heuvel L M et al. Journal of genetic counseling 2019 Jun -
Special Focus Issue highlights genetic and genomic education for personalized medicine,
EurekAlert, June 20, 2019
Heart, Lung, Blood and Sleep Diseases
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Late diagnosis and poor nutrition in cystic fibrosis diagnosed before implementation of newborn screening.
Pedersen Maya Graham et al. Acta paediatrica (Oslo, Norway : 1992) 2019 Jun -
The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: Results from the ScreenPro FH Project.
Ceska Richard et al. Current atherosclerosis reports 2019 Jun 21(9) 36 -
Familial Hypercholesterolemia and Lipoprotein Apheresis.
Makino Hisashi et al. Journal of atherosclerosis and thrombosis 2019 Jun -
Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.
Wolford Brooke N et al. Circulation. Genomic and precision medicine 2019 Jun 12(6) e002476 -
An Electronic Teaching Module for Improving Knowledge of Self-Management of Vaso-Occlusive Pain Crises in Patients With Sickle Cell Disease: Pilot Questionnaire Study.
Tam Tammie et al. JMIR mHealth and uHealth 2019 Jun 7(6) e13501 -
High prevalence of genetic determined familial hypercholesterolemia in premature coronary artery disease.
Pirazzi Carlo et al. The application of clinical genetics 2019 1271-78 -
Genetic Testing and Cascade Screening in Pediatric Long QT Syndrome and Hypertrophic Cardiomyopathy.
Knight Linda M et al. Heart rhythm 2019 Jun -
A cost-effectiveness model of genetic testing and periodical clinical screening for the evaluation of families with dilated cardiomyopathy.
Catchpool Max et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jun -
Developing implementation strategies to improve uptake of guideline-recommended treatments for individuals with familial hypercholesterolemia: A protocol.
Jones Laney K et al. Research in social & administrative pharmacy : RSAP 2019 Jun
Newborn Screening
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Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Peng Gang et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(4) 896-903
Pharmacogenomics
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New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun -
A pilot study of the implementation of pharmacogenomic pharmacist initiated pre-emptive testing in primary care.
Bank Paul C D et al. European journal of human genetics : EJHG 2019 Jun -
Pharmacogenetics of Postoperative Nausea and Vomiting.
Aroke Edwin N et al. Journal of perianesthesia nursing : official journal of the American Society of PeriAnesthesia Nurses 2019 Jun -
Tamoxifen Pharmacogenetics and Metabolism: The Same Is Not the Same.
Brauch Hiltrud et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2019 Jun JCO1900507 -
Knowledge and understanding of pharmacogenomic testing among patients and health care professionals: A scoping review.
Veilleux Sophie et al. Patient education and counseling 2019 Jun
Reproductive Health
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Recent trends in prenatal genetic screening and testing.
Pös Ondrej et al. F1000Research 2019 8 -
Beyond the biopsy: predictors of decision regret and anxiety following preimplantation genetic testing for aneuploidy.
Goldman Kara N et al. Human reproduction (Oxford, England) 2019 Jun -
Study protocol of a multicentre cohort pilot study implementing an expanded preconception carrier-screening programme in metropolitan and regional Western Australia.
Ong Royston et al. BMJ open 2019 Jun 9(6) e028209