Published on 03/21/2019
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Abolhassani Hassan et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(1) 243-251 -
Precision Medicine and Exercise Therapy in Duchenne Muscular Dystrophy.
Kostek Matthew et al. Sports (Basel, Switzerland) 2019 Mar 7(3) -
Huntington's disease in the United States: Variation by demographic and socioeconomic factors.
Bruzelius Emilie et al. Movement disorders : official journal of the Movement Disorder Society 2019 Mar
Cancer
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Does family communication matter? Exploring knowledge of breast cancer genetics in cancer families.
Himes Deborah O et al. Journal of community genetics 2019 Mar -
A Randomized Controlled Intervention to Promote Readiness to Genetic Counseling for Breast Cancer Survivors.
Kasting Monica L et al. Psycho-oncology 2019 Mar -
Costs and Cost-Effectiveness of Targeted, Personalized Risk Information to Increase Appropriate Screening by First-Degree Relatives of People With Colorectal Cancer.
Reeves Penny et al. Health education & behavior : the official publication of the Society for Public Health Education 2019 Mar 1090198119835294 -
Telephone versus in-person colorectal cancer risk and screening intervention for first-degree relatives: A randomized controlled trial.
Esplen Mary Jane et al. Cancer 2019 Mar -
A pilot precision medicine trial for children with diffuse intrinsic pontine glioma - PNOC003: a report from the Pacific Pediatric Neuro-Oncology Consortium.
Mueller Sabine et al. International journal of cancer 2019 Mar -
Machine learning analysis of gene expression data reveals novel diagnostic and prognostic biomarkers and identifies therapeutic targets for soft tissue sarcomas.
van IJzendoorn David G P et al. PLoS computational biology 2019 15(2) e1006826 -
Referral patterns for genetic counselling of women diagnosed with tubo-ovarian or peritoneal high-grade serous carcinoma (HGSC) within the Auckland Gynaecological Oncology Centre.
Burling Michael J et al. The Australian & New Zealand journal of obstetrics & gynaecology 2019 Mar -
An initial genetic analysis of gemcitabine-induced high-grade neutropenia in pancreatic cancer patients CALGB 80303 (Alliance).
Innocenti Federico et al. Pharmacogenetics and genomics 2019 Mar -
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome.
Pearlman Rachel et al. Journal of medical genetics 2019 Mar -
A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips?
Ryan Neil A J et al. Frontiers in oncology 2019 961 -
Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world.
Ow Samuel Guan Wei et al. PloS one 2019 14(3) e0213746 -
Molecular screening program to select molecular-based recommended therapies for metastatic cancer patients: analysis from the ProfiLER trial.
Trédan O et al. Annals of oncology : official journal of the European Society for Medical Oncology 2019 Mar -
Clinical utility of androgen receptor gene aberrations in circulating cell-free DNA as a biomarker for treatment of castration-resistant prostate cancer.
Sumiyoshi Takayuki et al. Scientific reports 2019 Mar 9(1) 4030 -
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.
Seppälä Toni T et al. Hereditary cancer in clinical practice 2019 178 -
BRACAVENIR: an observational study of expectations and coping in young women with high hereditary risk of breast and ovarian cancer.
Kwiatkowski Fabrice et al. Hereditary cancer in clinical practice 2019 177 -
Chemotherapy Costs and 21-Gene Recurrence Score Genomic Testing Among Medicare Beneficiaries With Early-Stage Breast Cancer, 2005 to 2011.
Dinan Michaela A et al. Journal of the National Comprehensive Cancer Network : JNCCN 2019 Mar 17(3) 245-254 -
BRCA mutation testing for first-degree relatives of women with high-grade serous ovarian cancer.
Kwon Janice S et al. Gynecologic oncology 2019 Mar 152(3) 459-464 -
First-line tyrosine kinase inhibitors in EGFR mutation-positive non-small-cell lung cancer: a network meta-analysis.
Holleman Marscha S et al. OncoTargets and therapy 2019 121413-1421 -
Health professionals' perspectives on breast cancer risk stratification: understanding evaluation of risk versus screening for disease.
Puzhko Svetlana et al. Public health reviews 2019 402 -
Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know.
Franceschini Gianluca et al. Annali italiani di chirurgia 2019 901-2 -
March 22, 2019: Lynch Syndrome Hereditary Cancer Awareness Day
Michigan.gov -
Evaluation of clinical utility of P53 gene variations in repeated implantation failure.
Mohammadzadeh Milad et al. Molecular biology reports 2019 Mar -
Next-Generation Sequencing for Genotyping of Endobronchial Ultrasound-Guided Transbronchial Needle Aspiration Samples in Lung Cancer.
Xie Fangfang et al. The Annals of thoracic surgery 2019 Mar -
Integrating of genomic and transcriptomic profiles for the prognostic assessment of breast cancer.
Yu Chengxiao et al. Breast cancer research and treatment 2019 Mar -
Biomarkers in Non-Small Cell Lung Cancers: Indian Consensus Guidelines for Molecular Testing.
Prabhash Kumar et al. Advances in therapy 2019 Mar
Chronic Disease
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PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease.
Ali Hamad et al. Scientific reports 2019 Mar 9(1) 4141 -
Investigating the role of genetic counseling in neuromuscular disease considering life events.
Shibata Yuka et al. Journal of human genetics 2019 Mar
Ethics/Policy/Law
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Genetic Data, Two-Sided Markets and Dynamic Consent: United States Versus France.
Stoeklé Henri-Corto et al. Science and engineering ethics 2019 Mar -
World Health Organization advisers call for registry of studies on human genome editing
S Begley, Stat News, March 19, 2019 -
Ethical and Policy Considerations for Genomic Testing in Pediatric Research: The Path Toward Disclosing Individual Research Results.
Wong Craig S et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2019 Mar -
Protecting Genomic Data Privacy with Probabilistic Modeling.
Simmons Sean et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2019 24403-414
Practice
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Genetic counseling for consumer-driven whole exome and whole genome sequencing: A commentary on early experiences.
Schmidt Johanna L et al. Journal of genetic counseling 2019 Mar -
A Bayesian hierarchical logistic regression model of multiple informant family health histories.
Lin Jielu et al. BMC medical research methodology 2019 Mar 19(1) 56 -
Private payer coverage policies for exome sequencing (ES) in pediatric patients: trends over time and analysis of evidence cited.
Douglas Michael P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2019 21(1) 152-160 -
Developing community-based health education strategies with family history: Assessing the association between community resident family history and interest in health education.
Prom-Wormley Elizabeth C et al. Social science & medicine (1982) 2019 Feb -
Flipped Classroom Strategy: An Accessible, Application-Driven Approach to Genomics Education.
Fee-Schroeder Kelliann C et al. Clinical journal of oncology nursing 2019 Apr 23(2) 145-148 -
Recommendations for the clinical interpretation and reporting of copy number gains using gene panel NGS analysis in routine diagnostics.
Eijkelenboom Astrid et al. Virchows Archiv : an international journal of pathology 2019 Mar
Heart, Lung, Blood and Sleep Diseases
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Establishing a familial hypercholesterolaemia register - The first year.
Tilney Myra et al. Atherosclerosis. Supplements 2019 Mar 3624-27 -
Unprepared and Misinformed Parents of Children with Sickle Cell Disease: Time to Rethink Awareness Campaigns.
Aderotoye-Oni Seyi et al. Cureus 2018 Dec 10(12) e3806 -
Investigating the association between familial hypercholesterolemia and perceived depression.
Chang Nien-Tzu et al. Atherosclerosis. Supplements 2019 Mar 3631-36 -
Familial hypercholesterolemia in China half a century: A review of published literature.
Peng Jie et al. Atherosclerosis. Supplements 2019 Mar 3612-18 -
Lessons from exome sequencing in prenatally diagnosed heart defects: a basis for prenatal testing.
Westphal Dominik S et al. Clinical genetics 2019 Mar -
Precision Medicine for Heart Failure: Back to the Future.
Feldman Arthur M et al. Journal of the American College of Cardiology 2019 Mar 73(10) 1185-1188
Pharmacogenomics
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Expanding Pharmacist and Student Pharmacist Access to Genetics/Genomics/Pharmacogenomics Competency Education.
Kisor David F et al. Journal of medical education and curricular development 62382120519834325 -
49 Combinatorial Pharmacogenomics to Guide Treatment Selection for Major Depressive Disorder: A Large, Blinded, Randomized Controlled Trial.
Greden John F et al. CNS spectrums 2019 Feb 24(1) 202-203 -
19 Real World Patient-Reported Outcomes Following Pharmacogenomic Testing.
Rigby Nichole et al. CNS spectrums 2019 Feb 24(1) 183 -
Pharmacogenetics Biomarkers Predictive of Drug Pharmacodynamics as an Additional Tool to Therapeutic Drug Monitoring.
Haufroid Vincent et al. Therapeutic drug monitoring 2019 Apr 41(2) 121-130 -
Pharmacogenomics of Multiple Sclerosis: A Systematic Review.
Hocevar Keli et al. Frontiers in neurology 2019 10134
Reproductive Health
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Evaluation of preimplantation genetic testing based on next-generation sequencing for balanced reciprocal translocation carriers.
Cai Yunni et al. Reproductive biomedicine online 2019 Jan -
Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies.
Hu Hua et al. Human genomics 2019 Mar 13(1) 14 -
Genetics professionals' attitudes toward prenatal exome sequencing.
Brew Casey E et al. Journal of genetic counseling 2019 Mar -
The Impact of Insurance Coverage on the Prenatal Genetic Counseling Process: An Exploration of Genetic Counselors' Experiences with TRICARE.
Brown Jordan et al. Prenatal diagnosis 2019 Mar -
Prenatal genetic counselors' practices and confidence level when counseling on cancer risk identified on expanded carrier screening.
Thompson Jennifer et al. Journal of genetic counseling 2019 Mar
Eventr
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Basics to Fundamentals on Spina Bifida: Resources for the Practicing Primary Care Clinician
April 16, 2019, 1:00 pm EST ~ American Academy of Pediatrics Webinar -
Duchenne Muscular Dystrophy: Diagnosis, Primary Care and Emergency Room Care
April 30, 2019, 1:00pm EST ~ American Academy of Pediatrics