Published on 05/14/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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COngenital heart disease and the Diagnostic yield with Exome sequencing (CODE Study): prospective cohort study and systematic review.
Mone F et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 May -
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon Narissara et al. Frontiers in immunology 2020 11614 -
Management of rare movement disorders in Europe: outcome of surveys of the European Reference Network for Rare Neurological Diseases.
Painous C et al. European journal of neurology 2020 May -
Consecutive medical exome analysis at a tertiary center: Diagnostic and health-economic outcomes.
Kosaki Rika et al. American journal of medical genetics. Part A 2020 May -
Disease-Associated Mosaic Variation in Clinical Exome Sequencing: A Two Year Pediatric Tertiary Care Experience.
Miller Cecelia R et al. Cold Spring Harbor molecular case studies 2020 May -
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Shamseldin Hanan E et al. Human genetics 2020 May -
Assessment of the Clinical Utility of Plasma Metagenomic Next-Generation Sequencing in a Pediatric Hospital Population.
Lee Rose A et al. Journal of clinical microbiology 2020 May
Cancer
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Adequacy evaluation of the annual colonoscopic surveillance and individual difference of disease phenotypes in Lynch syndrome.
Taniguchi Fumitaka et al. Japanese journal of clinical oncology 2020 May -
Multi-Gene Prognostic Signatures and Prediction of Pathological Complete Response to Neoadjuvant Chemotherapy in ER-positive, HER2-negative Breast Cancer Patients.
Mazo Claudia et al. Cancers 2020 May 12(5) -
Insights From a Temporal Assessment of Increases in US Private Payer Coverage of Tumor Sequencing From 2015 to 2019.
Trosman Julia R et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 551-558 -
Use of Polygenic Risk Scores to Select Screening Intervals After Negative Findings From Colonoscopy.
Guo Feng et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2020 May -
The predictive value of PRDM2 in solid tumor: a systematic review and meta-analysis.
Tanadi Caroline et al. PeerJ 2020 8e8826 -
Development and validation of next generation sequencing based 35-gene hereditary cancer panel.
Chan Wing et al. Hereditary cancer in clinical practice 2020 189 -
BRCA Mutations in Pancreas Cancer: Spectrum, Current Management, Challenges and Future Prospects.
Wong Winston et al. Cancer management and research 2020 122731-2742 -
Impact of a prognostic 40-gene expression profiling test on clinical management decisions for high-risk cutaneous squamous cell carcinoma.
Litchman Graham H et al. Current medical research and opinion 2020 May 1 -
Identifying Ashkenazi Jewish BRCA1/2 founder variants in individuals who do not self-report Jewish ancestry.
Tennen Ruth I et al. Scientific reports 2020 May 10(1) 7669 -
Diagnostic Accuracy of Immunohistochemistry for Mismatch Repair Proteins as Surrogate of Microsatellite Instability Molecular Testing in Endometrial Cancer.
Raffone Antonio et al. Pathology oncology research : POR 2020 May -
Healthcare providers' adherence to breast cancer guidelines in Europe: a systematic literature review.
Niño de Guzmán Ena et al. Breast cancer research and treatment 2020 May -
BRCA testing in a genomic diagnostics referral center during the COVID-19 pandemic.
Minucci Angelo et al. Molecular biology reports 2020 May -
Evaluation of implementation of risk management guidelines for carriers of pathogenic variants in mismatch repair genes: a nationwide audit of familial cancer clinics.
Meiser B et al. Familial cancer 2020 May -
Implications of the 21-gene recurrence score assay (Oncotype DX) on adjuvant treatment decisions in ER-positive early-stage breast cancer patients: experience of Kuwait Cancer Control Center.
Fayaz Salah et al. Journal of the Egyptian National Cancer Institute 2020 Mar 32(1) 13 -
Development and validation of a five-immune gene prognostic risk model in colon cancer.
Chen Haitao et al. BMC cancer 2020 May 20(1) 395 -
Comparison of two Lynch screening strategies in endometrial cancer in a California health system.
Lentz Scott E et al. Gynecologic oncology 2020 May -
The concordance of treatment decision guided by OncotypeDX and the PREDICT tool in real-world early-stage breast cancer.
Goldstein Daniel A et al. Cancer medicine 2020 May -
Clinical patterns and genomic profiling of recurrent 'ultra-low risk' endometrial cancer.
Stasenko Marina et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 May -
Correlation Between Oncotype DX, PREDICT and the Nottingham Prognostic Index: Implications for the Management of Early Breast Cancer.
Hillyar Christopher et al. Cureus 2020 Apr 12(4) e7552 -
Molecular Guided Treatments in Gynecologic Oncology: Analysis of a Real-World Precision Cancer Medicine Platform.
Taghizadeh Hossein et al. The oncologist 2020 May -
Evaluating the effects of a risk-adapted screening program for familial colorectal cancer in individuals between 25 and 50 years of age: study protocol for the prospective population-based intervention study FARKOR.
Hoffmann Sabine et al. BMC gastroenterology 2020 May 20(1) 131 -
Survival prediction model for non-small cell lung cancer based on somatic mutations.
Zhang Weiran et al. The journal of gene medicine 2020 May e3206 -
Clinical utility of serial analysis of circulating tumour cells for detection of minimal residual disease of metastatic nasopharyngeal carcinoma.
Ko Josephine Mun-Yee et al. British journal of cancer 2020 May -
Metastatic breast cancer patient perceptions of somatic tumor genomic testing.
Adams Elizabeth J et al. BMC cancer 2020 May 20(1) 389
Ethics/Policy/Law
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Shortened consent forms for genome-wide sequencing: Parent and provider perspectives.
Hitchcock Emma C et al. Molecular genetics & genomic medicine 2020 May e1254 -
Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health.
Shaibi Gabriel Q et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May -
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments.
Goranitis Ilias et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May
Practice
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Feasibility, face validity, and sensitivity of a web-based simulation tool for assessing genetic counseling communication.
Setzer Michael R et al. Journal of genetic counseling 2020 May -
Longitudinal follow-up after telephone disclosure in the randomized COGENT study.
Kilbride Madison K et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 May -
Use of Real-World Evidence in US Payer Coverage Decision-Making for Next-Generation Sequencing-Based Tests: Challenges, Opportunities, and Potential Solutions.
Deverka Patricia A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 540-550 -
Quantifying Downstream Healthcare Utilization in Studies of Genomic Testing.
Mackay Zoë P et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 559-565 -
Addressing Challenges of Economic Evaluation in Precision Medicine Using Dynamic Simulation Modeling.
Marshall Deborah A et al. Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research 2020 May 23(5) 566-573 -
Expectations and psychological issues before genetic counseling: analysis of distress determinant factors.
Ballatore Zelmira et al. Hereditary cancer in clinical practice 2020 1810 -
Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.
Kochan David C et al. NPJ genomic medicine 2020 519 -
Understanding polygenic models, their development and the potential application of polygenic scores in healthcare.
Babb de Villiers Chantal et al. Journal of medical genetics 2020 May -
Psychosocial implications of living with familial risk of a psychiatric disorder and attitudes to psychiatric genetic testing: A systematic review of the literature.
Meiser Bettina et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2020 May -
Impact and Diagnostic Gaps of Comprehensive Genomic Profiling in Real-World Clinical Practice.
Singh Aditi P et al. Cancers 2020 May 12(5)
Heart, Lung, Blood and Sleep Diseases
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Predictive Utility of Polygenic Risk Scores for Coronary Heart Disease in Three Major Racial and Ethnic Groups.
Dikilitas Ozan et al. American journal of human genetics 2020 May 106(5) 707-716 -
Genetics of dilated cardiomyopathy: practical implications for heart failure management.
Rosenbaum Andrew N et al. Nature reviews. Cardiology 2020 17(5) 286-297 -
FAMILIAL HYPERCHOLESTEROLAEMIA - A DIAGNOSIS THAT EVERY PLASTIC SURGEON CAN EXPERIENCE.
Šatný M et al. Acta chirurgiae plasticae 2020 60(2-4) 54-58 -
Reclassification of genetic variants in children with long QT syndrome.
Westphal Dominik S et al. Molecular genetics & genomic medicine 2020 May e1300 -
Inherited Thoracic Aortic Disease: New Insights and Translational Targets.
Fletcher Alexander J et al. Circulation 2020 May 141(19) 1570-1587 -
Hematologist and transplant physicians: How and where to meet for the best of sickle cell disease patients?
Dalle Jean-Hugues et al. Hematology/oncology and stem cell therapy 2020 Apr -
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Bordet Céline et al. Journal of clinical medicine 2020 May 9(5) -
Brief recommendations on the management of adult patients with familial hypercholesterolemia during the COVID-19 pandemic.
Banach Maciej et al. Pharmacological research 2020 May 104891 -
Alpha-1-antitrypsin molecular testing in Canada: A seven year, multi-centre comparison.
Mattman Andre et al. Clinical biochemistry 2020 May
Newborn Screening
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Experience with Parent Follow-Up for Communication Outcomes after Newborn Screening Identifies Carrier Status.
Farrell Michael H et al. The Journal of pediatrics 2020 May -
Endocrine components of newborn screening.
Russell Melissa et al. Current problems in pediatric and adolescent health care 2020 May 100772
Pharmacogenomics
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Implementation of a pharmacogenomic program in a Brazilian Public Institution.
Suarez-Kurtz Guilherme et al. Pharmacogenomics 2020 May -
Use of pharmacogenomics in elderly patients treated for cardiovascular diseases.
Božina Nada et al. Croatian medical journal 2020 Apr 61(2) 147-158 -
Clinical evaluation of germline polymorphisms associated with capecitabine toxicity in breast cancer: TBCRC-015.
O'Donnell Peter H et al. Breast cancer research and treatment 2020 May -
Recommendations for Clinical Warfarin Sensitivity Genotyping Allele Selection: A Report of the Association for Molecular Pathology and College of American Pathologists.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2020 May
Reproductive Health
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Clinical validity of expanded carrier screening: evaluating the gene-disease relationship in more than 200 conditions.
Balzotti Marie et al. Human mutation 2020 May -
Circulating Nucleic Acids in Maternal Plasma and Serum in Pregnancy Complications: Are They Really Useful in Clinical Practice? A Systematic Review.
Carbone Ilma Floriana et al. Molecular diagnosis & therapy 2020 May -
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Yaron Yuval et al. Human reproduction (Oxford, England) 2020 May -
Colorectal cancer in the setting of pregnancy and familial risk.
Samadder N Jewel et al. International journal of colorectal disease 2020 May -
Prenatal diagnosis and pregnancy outcomes of 1492 fetuses with congenital heart disease: role of multidisciplinary-joint consultation in prenatal diagnosis.
Qiu Xiuqing et al. Scientific reports 2020 May 10(1) 7564 -
Initial Psychometric Analysis of Novel Instruments to Assess Decisional Distress and Decisional Uncertainty in Women Who Have Considered Using Preimplantation Genetic Testing.
Pastore Lisa M et al. Prenatal diagnosis 2020 May