Published on 12/06/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
The diagnosis of hereditary angioedema with C1 inhibitor deficiency: a survey of Canadian physicians and laboratories.
Charest-Morin Xavier et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2018 1483
Cardiac MRI biomarkers for Duchenne muscular dystrophy.
Magrath Patrick et al. Biomarkers in medicine 2018 Nov
A seven-Gene Signature assay improves prognostic risk stratification of perioperative chemotherapy treated gastroesophageal cancer patients from the MAGIC trial.
Smyth E C et al. Annals of oncology : official journal of the European Society for Medical Oncology 2018 Nov
Prevalence of nonfounder BRCA1/2 mutations in Ashkenazi Jewish patients presenting for genetic testing at a hereditary breast and ovarian cancer center.
Frey Melissa K et al. Cancer 2018 Nov
Circulating Tumor and Invasive Cell Gene Expression Profile Predicts Treatment Response and Survival in Pancreatic Adenocarcinoma.
Yu Kenneth H et al. Cancers 2018 Nov 10(12)
Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents.
Scollon Sarah et al. Patient education and counseling 2018 Nov
Management Decisions Made by Physician Assistants and Nurse Practitioners in Cutaneous Malignant Melanoma Patients: Impact of a 31-Gene Expression Profile Test
Mirsky Rachel et al. Journal of drugs in dermatology : JDD 2018 Nov 17(11) 1220-1223
A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study.
Nunziato Marcella et al. Analytica chimica acta 2019 Jan 1046154-162
The discovery of a novel eight-mRNA-lncRNA signature predicting survival of hepatocellular carcinoma patients.
Shi Ye-Min et al. Journal of cellular biochemistry 2018 Nov
Uterine cancer in Jewish Israeli BRCA1/BRCA2 mutation carriers.
Laitman Yael et al. Cancer 2018 Nov
Health beliefs associated with readiness for genetic counseling among high risk breast cancer survivors.
Reblin Maija et al. The breast journal 2018 Nov
A Prospective Study of Circulating Tumor DNA to Guide Matched Targeted Therapy in Lung Cancers.
Sabari Joshua K et al. Journal of the National Cancer Institute 2018 Nov
Asian Americans and Colorectal Cancer
A panel of noncoding RNAs in non-small-cell lung cancer.
Bagheri Abouzar et al. Journal of cellular biochemistry 2018 Nov
Risk-Reducing Oophorectomy and Breast Cancer Risk Across the Spectrum of Familial Risk.
Terry Mary Beth et al. Journal of the National Cancer Institute 2018 Nov
Using behaviour change and implementation science to address low referral rates in oncology.
Long Janet C et al. BMC health services research 2018 Nov 18(1) 904
Risk and prognostic factors for endometrial carcinoma after diagnosis of breast or Lynch-associated cancers-A population-based analysis.
Johnatty Sharon E et al. Cancer medicine 2018 Nov
CRISPR/Cas9 gene-editing: Research technologies, clinical applications and ethical considerations.
Memi Fani et al. Seminars in perinatology 2018 Oct
The Ethics of Heritable Genome Editing: New Considerations in a Controversial Area.
Adashi Eli Y, et al. JAMA 2018 12 0.
FDA takes new action to advance the development of reliable and beneficial genetic tests that can improve patient care
FDA Press Release, December 4, 2018
Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.
Grant Peter E et al. European journal of medical genetics 2018 Nov
Implementing Genomics-Based Screening Programs for Healthy Adults: A Proposed Evidence-based Approach from the Genomics and Population Health Action Collaborative
Khoury MJ et al, Blog Post, December 3, 2018
Towards a Regional Registry of Extended Typed Blood Donors: Molecular Typing for Blood Group, Platelet and Granulocyte Antigens.
Portegys Jan et al. Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie 2018 Oct 45(5) 331-340
Teaching Genomic Pathology: Translating Team-Based Learning to a Virtual Environment Using Computer-Based Simulation.
Haspel Richard L et al. Archives of pathology & laboratory medicine 2018 Nov
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs.
Yu Ying et al. Nucleic acids research 2018 Nov
The value of genetic testing for family health history of adopted persons.
May Thomas et al. Nature reviews. Genetics 2018 Nov
A Proposed Approach for Implementing Genomics-Based Screening Programs for Healthy Adults
M. Murray and the Genomics and Population Health Action Collaborative, National Academies of Medicine, December 3, 2018
Heart, Lung, Blood and Sleep Diseases
Family history of venous thromboembolism in the paediatric population: The need for a standardized definition.
Hau Anna et al. Thrombosis research 2018 Nov 17391-95
Gene therapy for sickle cell disease.
Olowoyeye Abiola et al. The Cochrane database of systematic reviews 2018 Nov 11CD007652
Genomics, microbiomics, proteomics, and metabolomics in bronchopulmonary dysplasia.
Lal Charitharth Vivek et al. Seminars in perinatology 2018 Nov 42(7) 425-431
The current state of sickle-cell trait: implications for reproductive and genetic counseling.
Pecker Lydia H et al. Blood 2018 Nov
Genetic associations in community context: a mixed model approach identifies a functional variant in the RBP4 gene associated with HDL-C dyslipidemia.
Aref-Eshghi Erfan et al. BMC medical genetics 2018 Nov 19(1) 205
Hunter Syndrome: Is It Time to Make It Part of Newborn Screening?
Joseph Rachel et al. Advances in neonatal care : official journal of the National Association of Neonatal Nurses 2018 Dec 18(6) 480-487
Clinical Utility of Pharmacogenetic Testing and a Clinical Decision Support Tool to Enhance the Identification of Drug Therapy Problems Through Medication Therapy Management in Polypharmacy Patients.
Kim Kibum et al. Journal of managed care & specialty pharmacy 2018 Dec 24(12) 1250-1259
Clinical Pharmacogenetics Implementation Consortium (CPIC) guideline for the use of potent volatile anesthetic agents and succinylcholine in the context of RYR1 or CACNA1S genotypes.
Gonsalves Stephen G et al. Clinical pharmacology and therapeutics 2018 Nov
Diagnostic and Therapeutic Strategies for Fluoropyrimidine Treatment of Patients Carrying Multiple DPYD Variants.
Lunenburg Carin A T C et al. Genes 2018 Nov 9(12)
Effectiveness and safety of reduced-dose fluoropyrimidine therapy in patients carrying the DPYD*2A variant: a matched pair analysis.
Henricks Linda M et al. International journal of cancer 2018 Nov
Impact of CYP2C9 and VKORC1 Polymorphisms on Warfarin Sensitivity and Responsiveness in Jordanian Cardiovascular Patients during the Initiation Therapy.
Al-Eitan Laith N et al. Genes 2018 Nov 9(12)
To test or not to test? A framework for counselling patients on preimplantation genetic testing for aneuploidy (PGT-A).
Murphy Lauren A et al. Human reproduction (Oxford, England) 2018 Nov