Published on 07/09/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Determining the best candidates for next-generation sequencing-based gene panel for evaluation of early-onset epilepsy.
Lee Jiwon et al. Molecular genetics & genomic medicine 2020 Jul e1376 -
Clinical Genomics in Critically Ill Infants and Children.
Raymond F Lucy et al. JAMA 2020 323(24) 2480-2482 -
Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric Disorders.
Hu Xuyun et al. Frontiers in genetics 2020 11473 -
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
Padidela Raja et al. Orphanet journal of rare diseases 2020 Jun 15(1) 172 -
Patient and family social media use surrounding a novel treatment for a rare genetic disease: a qualitative interview study.
Iyer Alexander A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
European Reference Network for Rare Vascular Diseases (VASCERN) position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia (HHT).
Eker Omer F et al. Orphanet journal of rare diseases 2020 Jun 15(1) 165 -
Genetic Counseling for Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis-Practice Resource of the National Society of Genetic Counselors.
Radtke Heather B et al. Journal of genetic counseling 2020 Jun -
Development of in-house genetic screening for pediatric hearing loss.
Doerfer Karl W et al. Laryngoscope investigative otolaryngology 2020 Jun 5(3) 497-505 -
A new screening strategy and whole-exome sequencing for the early diagnosis of maturity-onset diabetes of the young.
Liu Yue et al. Diabetes/metabolism research and reviews 2020 Jul e3381
Cancer
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Clinical Utility of Reflex Ordered Testing for Molecular Biomarkers in Lung Adenocarcinoma.
Anand Kartik et al. Clinical lung cancer 2020 May -
Gene therapies for high-grade gliomas: from the bench to the bedside.
Giotta Lucifero Alice et al. Acta bio-medica : Atenei Parmensis 2020 Jun 91(7-S) 32-50 -
Is tumor testing efficiency for Lynch syndrome different in rectal and colon cancer?
Marabelli Monica et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2020 Jun -
Integration of Tumor Mutation Burden and PD-L1 Testing in Routine Laboratory Diagnostics in Non-Small Cell Lung Cancer.
Schatz Stefanie et al. Cancers 2020 Jun 12(6) -
Oncotype DX Breast Recurrence Score ® : A Review of its Use in Early-Stage Breast Cancer.
Syed Yahiya Y et al. Molecular diagnosis & therapy 2020 Jul -
Evaluating the Utility of Polygenic Risk Scores in Identifying High-Risk Individuals for Eight Common Cancers.
Jia Guochong et al. JNCI cancer spectrum 2020 Jun 4(3) pkaa021 -
Identification of 5 Gene Signatures in Survival Prediction for Patients with Lung Squamous Cell Carcinoma Based on Integrated Multiomics Data Analysis.
Ma Hongxia et al. BioMed research international 2020 20206427483 -
Genetic Counseling and Germline Testing in the Era of Tumor Sequencing: A Cohort Study.
Klek Stefan et al. JNCI cancer spectrum 2020 Jun 4(3) pkaa018 -
Polygenic risk score opportunities for early detection and prevention strategies in endometrial cancer.
O'Mara Tracy A et al. British journal of cancer 2020 Jul -
Family History of Cancer as Potential Prognostic Factor in Stage III Colorectal Cancer: a Retrospective Monoinstitutional Study.
Parisi Alessandro et al. Journal of gastrointestinal cancer 2020 Jul -
Undetectable circulating tumor DNA levels correlate with low risk of recurrence/metastasis in postoperative pathologic stage I lung adenocarcinoma patients.
Yang Weixiong et al. Lung cancer (Amsterdam, Netherlands) 2020 Jun 146327-334 -
The prognostic impact of variant allele frequency (VAF) in TP53 mutant patients with MDS: a systematic review and meta-analysis.
Deng Jili et al. European journal of haematology 2020 Jul -
Presence of a 34-gene signature is a favorable prognostic marker in squamous non-small cell lung carcinoma.
Theelen W S M E et al. Journal of translational medicine 2020 Jul 18(1) 271 -
Liquid biopsy mutation panel for non-small cell lung cancer: analytical validation and clinical concordance.
Schwartzberg Lee S et al. NPJ precision oncology 2020 415 -
Establishment of a pancreatic adenocarcinoma molecular gradient (PAMG) that predicts the clinical outcome of pancreatic cancer.
Nicolle Rémy et al. EBioMedicine 2020 Jul 57102858 -
Dynamic contrast-enhanced magnetic resonance imaging for risk-stratified screening in women with BRCA mutations or high familial risk for breast cancer: are we there yet?
Whitaker Kristen D et al. Breast cancer research and treatment 2020 Jul -
Costs of in-house genomic profiling and implications for economic evaluation: A case example of non-small cell lung cancer (NSCLC).
Johnston Karissa M et al. Journal of medical economics 2020 Jun 1
Chronic Disease
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Additive and Multiplicative Interactions Between Genetic Risk Score and Family History and Lifestyle in Relation to Risk of Type 2 Diabetes.
Ding Ming et al. American journal of epidemiology 2020 189(5) 445-460 -
Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.
Sun Hong-Sheng et al. World journal of clinical cases 2020 Jun 8(12) 2530-2541 -
Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study.
Forgetta Vincenzo et al. PLoS medicine 2020 Jul 17(7) e1003152 -
Polygenic risk scores allow risk stratification for keratinocyte cancer in organ transplant recipients.
Seviiri Mathias et al. The Journal of investigative dermatology 2020 Jun
Ethics/Policy/Law
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Does Solidarity Require "All of Us" to Participate in Genomics Research?
Neuhaus Carolyn P et al. The Hastings Center report 2020 May 50 Suppl 1S62-S69 -
Roles of attitudes and injunctive norms in decisional conflict and disclosure following receipt of genome sequencing results.
Reid Allecia E et al. Social science & medicine (1982) 2020 Jun 113147 -
Adult adoptees and their use of direct-to-consumer genetic testing: Searching for family, searching for health.
Lee Heewon et al. Journal of genetic counseling 2020 Jun -
Legal Challenges for IT Service Providers in Pharmacogenomics.
Meier Lea et al. Studies in health technology and informatics 2020 Jun 27247-50
Practice
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Pharmacogenomics Meets Precision Cardio-Oncology: Is there synergistic potential?
Hockings Jennifer K et al. Human molecular genetics 2020 Jun -
Yield and clinical significance of genetic screening in elite and amateur athletes.
Limongelli Giuseppe et al. European journal of preventive cardiology 2020 Jul 2047487320934265 -
Medically actionable pathogenic variants in a population of 13,131 healthy elderly individuals.
Lacaze Paul et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul -
Clinical outcomes of a genomic screening program for actionable genetic conditions.
Buchanan Adam H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Implementation considerations for offering personal genomic risk information to the public: a qualitative study.
Smit Amelia K et al. BMC public health 2020 Jun 20(1) 1028 -
Effect of Incorporating Genetic Testing Results into Nutrition Counseling and Care on Health Outcomes: An Evidence Analysis Center Systematic Review-Part II.
Ellis Amy et al. Journal of the Academy of Nutrition and Dietetics 2020 Jul -
Consensus Report of the Academy of Nutrition and Dietetics: Incorporating Genetic Testing into Nutrition Care.
Braakhuis Andrea et al. Journal of the Academy of Nutrition and Dietetics 2020 Jul -
Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.
Michaelson-Cohen Rachel et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jul -
The Emerging Field of Polygenic Risk Scores and Perspective for Use in Clinical Care.
Yanes Tatiane et al. Human molecular genetics 2020 Jul -
Direct-to-consumer genomic testing: Are nurses prepared?
Flowers Elena et al. Nursing 2020 Jun
Heart, Lung, Blood and Sleep Diseases
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Folic acid supplementation in children with sickle cell disease: study protocol for a double-blind randomized cross-over trial.
Williams Brock A et al. Trials 2020 Jun 21(1) 593 -
Cumulative outcome of pre-implantation genetic diagnosis for sickle cell disease: a 5-year review.
Vali Saaliha et al. British journal of haematology 2020 Jul -
Long Term Prognostic Utility of Matrix Metalloproteinase-9 in Patients with Acute Coronary Syndrome - A Systematic Review.
Das Anamika et al. Current pharmaceutical biotechnology 2020 Jul -
Prognosis and Clinical Characteristics of Dilated Cardiomyopathy With Family History via Pedigree Analysis.
Marume Kyohei et al. Circulation journal : official journal of the Japanese Circulation Society 2020 Jul
Pharmacogenomics
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Evaluation of the suitability of 19 pharmacogenomics biomarkers for individualized metformin therapy for type 2 diabetes patients.
Xhakaza Lettilia et al. Drug metabolism and personalized therapy 2020 Jun -
PharmVar GeneFocus: CYP2C19.
Botton Mariana R et al. Clinical pharmacology and therapeutics 2020 Jun -
Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics.
Morales-Rosado Joel A et al. Cardiovascular drugs and therapy 2020 Jul
Reproductive Health
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Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit Kristjan E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Combined Preimplantation Genetic Testing for Autosomal Dominant Polycystic Kidney Disease: Consequences for Embryos Available for Transfer.
Mir Pardo Pere et al. Genes 2020 Jun 11(6) -
Preimplantation genetic testing and chances of a healthy live birth amongst recipients of fresh donor oocytes in the United States.
Roeca Cassandra et al. Journal of assisted reproduction and genetics 2020 Jul -
Family history risk assessment by a genetic counselor is a critical step in screening all patients in the ART clinic.
Vance Amy et al. Journal of assisted reproduction and genetics 2020 Jul -
Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing.
Oneda Beatrice et al. European journal of obstetrics, gynecology, and reproductive biology 2020 Jun 25219-29 -
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound.
Corsten-Janssen N et al. Prenatal diagnosis 2020 Jul -
Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array.
Niu Wenbin et al. BMC pregnancy and childbirth 2020 Jul 20(1) 388