Published on 06/25/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comprehensive genetic analysis of 961 unrelated Duchenne Muscular Dystrophy patients: Focus on diagnosis, prevention and therapeutic possibilities.
Kumar Shalini H et al. PloS one 2020 15(6) e0232654 -
Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.
Shah Mital et al. Ophthalmic genetics 2020 Jun 1-7 -
The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children.
Freed Amanda S et al. The Journal of pediatrics 2020 Jun -
Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next-Generation Sequencing.
Narayanan Dhanya Lakshmi et al. Indian pediatrics 2020 Jun 57(6) 549-554 -
Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges.
Hill Melissa et al. European journal of human genetics : EJHG 2020 Jun -
Evaluation of CNV detection tools for NGS panel data in genetic diagnostics.
Moreno-Cabrera José Marcos et al. European journal of human genetics : EJHG 2020 Jun
Cancer
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Comparison of suspected Lynch syndrome patients carrying BRCA and BRCA-like variants with Lynch syndrome probands: Phenotypic characteristics and pedigree analyses.
Xu Yun et al. Molecular genetics & genomic medicine 2020 Jun e1359 -
A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.
Lowder Cinthya Y et al. Surgical oncology 2020 Jun 33118-125 -
Combination of KRAS and SMAD4 mutations in formalin-fixed paraffin-embedded tissues as a biomarker for pancreatic cancer.
Yokose Takahiro et al. Cancer science 2020 Jun 111(6) 2174-2182 -
Clinical Utility of Combined Circulating Tumor Cell and Circulating Tumor DNA Assays for Diagnosis of Primary Lung Cancer.
Moon Seong Mi et al. Anticancer research 2020 Jun 40(6) 3435-3444 -
Identification and validation of seven prognostic long non-coding RNAs in oral squamous cell carcinoma.
Miao Tingting et al. Oncology letters 2020 Jul 20(1) 939-946 -
Identification of challenges and a framework for implementation of the AMP/ASCO/CAP classification guidelines for reporting somatic variants.
Parikh Bijal A et al. Practical laboratory medicine 2020 Aug 21e00170 -
Feasibility of Gynaecologist Led Lynch Syndrome Testing in Women with Endometrial Cancer.
Ryan Neil Aj et al. Journal of clinical medicine 2020 Jun 9(6) -
Impact of tumour heterogeneity and tissue sampling for genetic mutation testing: a systematic review and post-hoc analysis.
Swift Stephanie L et al. Journal of clinical epidemiology 2020 Jun -
Advanced cancer patient preferences for receiving molecular profiling results.
Best Megan et al. Psycho-oncology 2020 Jun -
Oncotype DX Predictive Nomogram for Recurrence Score Output: The Novel System ADAPTED01 Based on Quantitative Immunochemistry Analysis.
Marazzi Fabio et al. Clinical breast cancer 2020 May -
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders.
Gadoury-Levesque Vanessa et al. Blood advances 2020 Jun 4(12) 2578-2594 -
A novel prognostic signature of immune-related genes for patients with colorectal cancer.
Wang Jun et al. Journal of cellular and molecular medicine 2020 Jun -
Genetic counselors' perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome.
De Simone Lenika M et al. Journal of genetic counseling 2020 Jun -
Impact of genetic variants in clinical outcome of a cohort of patients with oropharyngeal squamous cell carcinoma.
de Carvalho Ana Carolina et al. Scientific reports 2020 Jun 10(1) 9970 -
Immunoglobulin gene analysis in chronic lymphocytic leukemia in the era of next generation sequencing.
Davi Frédéric et al. Leukemia 2020 Jun -
Clinical Impact of Plasma and Tissue Next-Generation Sequencing in Advanced Non-Small Cell Lung Cancer: A Real-World Experience.
Bonanno Laura et al. The oncologist 2020 Jun -
Should Total Thyroidectomy Be Recommended for Patients with Familial Non-medullary Thyroid Cancer?
Kim Yon Seon et al. World journal of surgery 2020 Jun -
Epi proColon ® for Colorectal Cancer Screening: A Profile of Its Use in the USA.
Shirley Matt et al. Molecular diagnosis & therapy 2020 Jun -
Current insights into interethnic variability in testicular cancers: Population pharmacogenetics, clinical trials, genetic basis of chemotherapy-induced toxicities and molecular signal transduction.
Vasistha Aman et al. Current topics in medicinal chemistry 2020 Jun -
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
Rippinger Nathalie et al. Cancer 2020 Jun -
Clinical characteristics and exploratory genomic analyses of germline BRCA1 or BRCA2 mutations in breast cancer.
Park Sehhoon et al. Molecular cancer research : MCR 2020 Jun -
Hereditary Gastric and Breast Cancer Syndromes Related to CDH1 Germline Mutation: A Multidisciplinary Clinical Review.
Corso Giovanni et al. Cancers 2020 Jun 12(6) -
Development and Validation of a 12-Gene Immune Relevant Prognostic Signature for Lung Adenocarcinoma Through Machine Learning Strategies.
Xue Liang et al. Frontiers in oncology 2020 10835 -
The utility of immunohistochemical testing for mismatch repair proteins in fine needle aspiration specimens of pancreatic adenocarcinoma.
Mettman Daniel et al. Annals of diagnostic pathology 2020 Jun 47151552 -
Aspirin for Lynch syndrome: a legacy of prevention.
Yurgelun Matthew B et al. Lancet (London, England) 2020 395(10240) 1817-1818
Chronic Disease
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Precision Medicine in Diabetes: A Consensus Report From the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD).
Chung Wendy K et al. Diabetes care 2020 Jul 43(7) 1617-1635 -
Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results.
Stuttgen Kelsey et al. Journal of Huntington's disease 2020 Jun
Ethics/Policy/Law
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Medical-ethical recommendations: preimplantation genetic testing PGT.
Swiss Academy Of Medical Sciences et al. Swiss medical weekly 2020 Jun 150w20298 -
Genetic testing and results disclosure in diverse populations: what does it take?
Horowitz Carol R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience.
Halverson Colin M E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Re-examining the Ethics of Genetic Counselling in the Genomic Era.
Schupmann Will et al. Journal of bioethical inquiry 2020 Jun
Practice
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Training the next generation of genomic medicine providers: trends in medical education and national assessment.
Dasgupta Shoumita et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun -
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Jun
Heart, Lung, Blood and Sleep Diseases
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Perceptions and Practice of Early Diagnosis of Sickle Cell Disease by Parents and Physicians in a Southwestern State of Nigeria.
Olatunya Oladele Simeon et al. TheScientificWorldJournal 2020 20204801087 -
Hereditary Alpha-Tryptasemia: UK Prevalence and variability in disease expression.
Robey Rebecca C et al. The journal of allergy and clinical immunology. In practice 2020 Jun -
Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting.
Bao Minghui et al. Journal of medical genetics 2020 Jun -
Diagnostic findings and follow-up outcomes in relatives to young non-autopsied sudden death victims.
Kjerrumgaard Amalie et al. International journal of cardiology 2020 Jun -
Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.
Steinberg-Shemer Orna et al. Molecular diagnosis & therapy 2020 Jun
Newborn Screening
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Newborn screening alone insufficient to improve pulmonary outcomes for cystic fibrosis.
Barreda Christina B et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Jun
Pharmacogenomics
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Prescription Patterns of Outpatients and the Potential of Multiplexed Pharmacogenomic Testing.
Chan Sze Ling et al. British journal of clinical pharmacology 2020 Jun -
Effect of Vitamin K Epoxide Reductase Complex 1 Polymorphism on Warfarin Dose Requirement among Patients in Tertiary Care Hospital.
Veeregowda Sahana Hadihalli et al. International journal of applied & basic medical research 10(2) 97-101
Reproductive Health
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Preimplantation Genetic Testing for Polygenic Disease Relative Risk Reduction: Evaluation of Genomic Index Performance in 11,883 Adult Sibling Pairs.
Treff Nathan R et al. Genes 2020 Jun 11(6) -
Management of Autosomal Dominant Polycystic Kidney Disease (ADPKD) During Pregnancy: Risks and Challenges.
McBride Lucy et al. International journal of women's health 2020 12409-422 -
Update on noninvasive prenatal testing: A review based on current worldwide research.
Samura Osamu et al. The journal of obstetrics and gynaecology research 2020 Jun -
Clinical service delivery of non-invasive prenatal diagnosis (NIPD) by relative haplotype dosage (RHDO) for single gene disorders.
Young Elizabeth et al. The Journal of molecular diagnostics : JMD 2020 Jun -
Fetal fraction of cell-free DNA in pregnancies after fresh or frozen embryo transfer following assisted reproductive technologies.
Talbot Anna L et al. Human reproduction (Oxford, England) 2020 Jun -
Preimplantation genetic testing for aneuploidy: the conundrum with aneuploid embryo transfers.
Fragouli Elpida et al. Fertility and sterility 2020 Jun