Published on 05/16/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Priorities when deciding on participation in early-phase gene therapy trials for Duchenne muscular dystrophy: a best-worst scaling experiment in caregivers and adult patients.
Paquin Ryan S et al. Orphanet journal of rare diseases 2019 May 14(1) 102 -
An update on the genetics of ocular coloboma.
ALSomiry Aisha S et al. Human genetics 2019 May -
Protocol for a scoping review of multi-omic analysis for rare diseases.
Kerr Katie et al. BMJ open 2019 May 9(5) e026278 -
The Use of Muscle Ultrasound in the Diagnosis and Differential Diagnosis of Congenital Disorders of Muscle in the Age of Next Generation Genetics.
Saade Dimah N et al. Seminars in pediatric neurology 2019 Apr 2944-54 -
Improving access to genetic testing for adults with intellectual disability: A literature review and lessons from a quality improvement project in East London.
Adlington Katherine et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2019 May -
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner Dieter et al. Nature reviews. Nephrology 2019 May
Cancer
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Clinical significance of variants of unknown significances in BRCA genes.
Choi Min Chul et al. Journal of gynecologic oncology 2019 May -
Accuracy in risk understanding among BRCA1/2-mutation carriers.
Speiser Dorothee et al. Patient education and counseling 2019 May -
Biomarkers Associated With Response to Regorafenib in Patients With Hepatocellular Carcinoma.
Teufel Michael et al. Gastroenterology 2019 156(6) 1731-1741 -
Implementing a Population-Based Breast Cancer Risk Assessment Program.
Silver Erica et al. Clinical breast cancer 2019 Mar -
Multidisciplinary interventions in a specialist Drug Development Unit to improve family history documentation and onward referral of patients with advanced cancer to cancer genetics services.
Moss Cathryn A et al. European journal of cancer (Oxford, England : 1990) 2019 May 11497-106 -
Clinicians' Role in the Adoption of an Oncology Decision Support App in Europe and Its Implications for Organizational Practices: Qualitative Case Study.
Jacob Christine et al. JMIR mHealth and uHealth 2019 May 7(5) e13555 -
A 4-gene panel predicting the survival of patients with glioblastoma.
Guo Xiao-Xia et al. Journal of cellular biochemistry 2019 May -
Development, technical validation, and clinical application of a multigene panel for hereditary gastrointestinal cancer and polyposis.
Ricci Maria Teresa et al. Tumori 2019 May 300891619847085 -
Feasibility and clinical utility of endoscopic ultrasound guided biopsy of pancreatic cancer for next-generation molecular profiling.
Dreyer Stephan B et al. Chinese clinical oncology 2019 Apr 8(2) 16 -
Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer.
Nicolussi Arianna et al. PeerJ 2019 7e6661 -
An ego network analysis approach identified important biomarkers with an association to progression and metastasis of gastric cancer.
Tian Xiaofeng et al. Journal of cellular biochemistry 2019 May -
Lifestyle and cancer incidence and mortality risk depending on family history of cancer in two prospective cohorts.
Drake Isabel et al. International journal of cancer 2019 May -
Two versus Four Immunostains for Lynch Syndrome Screening in Endometrial Carcinoma.
Niu Bonnie T et al. Histopathology 2019 May -
Universal tumor DNA BRCA1/2 testing of ovarian cancer: prescreening PARPi treatment and genetic predisposition.
Vos Janet R et al. Journal of the National Cancer Institute 2019 May -
Toward automatic prediction of EGFR mutation status in pulmonary adenocarcinoma with 3D deep learning.
Zhao Wei et al. Cancer medicine 2019 May -
Understanding BRCA Mutation Carriers' Preferences for Communication of Genetic Modifiers of Breast Cancer Risk.
Hovick Shelly R et al. Journal of health communication 2019 May 1-8 -
Effectiveness of interventions to identify and manage patients with familial cancer risk in primary care: a systematic review.
Lee Siang Ing et al. Journal of community genetics 2019 May -
Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population.
McGuinness Julia E et al. Cancer genetics 2019 Apr
Chronic Disease
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HLA-DQ Typing Kits in Diagnosis and Screening for Celiac Disease.
Rouvroye Maxine D et al. Genetic testing and molecular biomarkers 2019 May -
The influence of BRCA variants of unknown significance on cancer risk management decision-making.
Chern Jing Yi et al. Journal of gynecologic oncology 2019 Feb
Ethics/Policy/Law
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Fostering a Prevention Mindset for Responsible Gene Editing.
Meagher Karen M et al. Accountability in research 2019 May -
Direct-to-Consumer Genetic Testing Data Privacy: Key Concerns and Recommendations Based on Consumer Perspectives.
Hendricks-Sturrup Rachele M et al. Journal of personalized medicine 2019 May 9(2) -
Attitudes Toward Genetics and Genetic Testing Among Participants in the Jackson and Framingham Heart Studies.
Saylor Katherine W et al. Journal of empirical research on human research ethics : JERHRE 2019 May 1556264619844851 -
How Uncertainty Influences Lay People's Attitudes and Risk Perceptions Concerning Predictive Genetic Testing and Risk Communication.
Wöhlke Sabine et al. Frontiers in genetics 2019 10380 -
Are we ready to genetically modify a human embryo? Or is it too late to ask?
Matthews Kirstin Rw et al. Accountability in research 2019 May -
Genomics breeds new legal questions.
Couzin-Frankel Jennifer et al. Science (New York, N.Y.) 2019 364(6440) 521 -
Attitudes and experiences regarding genetic research among persons of African descent.
Scott Denise M et al. Journal of community genetics 2019 May
Practice
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A longitudinal big data approach for precision health.
Schüssler-Fiorenza Rose Sophia Miryam et al. Nature medicine 2019 May 25(5) 792-804 -
"Omics" Education in Dietetic Curricula: A Comparison between Two Institutions in the USA and Mexico.
VanBuren Christine et al. Lifestyle genomics 2019 May 1-11 -
The Impact of Genetic Counseling Educational Tools on Patients' Knowledge of Molecular Testing Terminology.
McDaniels Brianna A et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2019 May
Heart, Lung, Blood and Sleep Diseases
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Development of a Genetic Score to Predict an Increase in HDL Cholesterol Concentration After a Dietary Intervention in Adults with Metabolic Syndrome.
Guevara-Cruz Martha et al. The Journal of nutrition 2019 May -
Diagnostic high-throughput sequencing of 2,396 patients with bleeding, thrombotic and platelet disorders.
Downes Kate et al. Blood 2019 May -
A clinical, proteomics, and artificial intelligence-driven model to predict acute kidney injury in patients undergoing coronary angiography.
Ibrahim Nasrien E et al. Clinical cardiology 2019 Feb 42(2) 292-298
Newborn Screening
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A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
Wiens Katie et al. American journal of medical genetics. Part A 2019 May -
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki Ken et al. Journal of human genetics 2019 May
Pharmacogenomics
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Implementation of an Active-Learning Laboratory on Pharmacogenetics.
Powers Kacie E et al. American journal of pharmaceutical education 2019 Apr 83(3) 6605 -
Pharmacogenetics of Sertraline Tolerability and Response in Pediatric Anxiety and Depressive Disorders.
Poweleit Ethan A et al. Journal of child and adolescent psychopharmacology 2019 May -
Recommendations for Clinical CYP2C9 Genotyping Allele Selection: A Joint Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2019 May -
Pharmacogenetics of Warfarin in a Diverse Patient Population.
Mak May et al. Journal of cardiovascular pharmacology and therapeutics 2019 May 1074248419843530
Reproductive Health
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Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy.
Xu Yong et al. Expert review of molecular diagnostics 2019 May 1-6