Published on 04/30/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders.
Winder Thomas L et al. Neurology. Genetics 2020 Apr 6(2) e412 -
The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.
Asoglu Mehmet Resit et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Apr 1-7 -
Next-Generation Sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability.
Bruel Ange-Line et al. Clinical genetics 2020 Apr -
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Deden Chantal et al. Prenatal diagnosis 2020 Apr -
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr -
Outcome measures in juvenile X-linked retinoschisis: A systematic review.
Grigg John R et al. Eye (London, England) 2020 Apr -
Increased diagnostic yield in complex dystonia through exome sequencing.
Wirth Thomas et al. Parkinsonism & related disorders 2020 Apr 7450-56 -
Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.
Westland Rik et al. Clinical journal of the American Society of Nephrology : CJASN 2020 Apr -
Exome sequencing compared with standard genetic tests for critically ill infants with suspected genetic conditions.
Smith Hadley Stevens et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
Cancer
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Development and validation of a novel epigenetic signature for predicting prognosis in colon cancer.
Luo Dakui et al. Journal of cellular physiology 2020 Apr -
Population Screening for Inherited Predisposition to Breast and Ovarian Cancer.
Manchanda Ranjit et al. Annual review of genomics and human genetics 2020 Apr -
STK11 and KEAP1 mutations as prognostic biomarkers in an observational real-world lung adenocarcinoma cohort.
Papillon-Cavanagh Simon et al. ESMO open 2020 Apr 5(2) -
Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction.
Stjepanovic Neda et al. European journal of cancer (Oxford, England : 1990) 2020 Apr 13253-60 -
Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication.
Pollard Samantha et al. Health expectations : an international journal of public participation in health care and health policy 2020 Apr -
Systematic development of a training program for healthcare professionals to improve communication about breast cancer genetic counseling with low health literate patients.
van der Giessen Jeanine A M et al. Familial cancer 2020 Apr -
Diagnostic Accuracy of MCM5 for the Detection of Recurrence in Non Muscle Invasive Bladder Cancer Follow up: A Blinded, Prospective Cohort, Multicentric European Study.
Roupret Morgan et al. The Journal of urology 2020 Apr 101097JU0000000000001084 -
Colorectal cancer screening in Lynch syndrome: indication, techniques and future perspectives.
Perrod Guillaume et al. Digestive endoscopy : official journal of the Japan Gastroenterological Endoscopy Society 2020 Apr -
The supplemental value of mammographic screening over breast MRI alone in BRCA2 mutation carriers.
Obdeijn Inge-Marie et al. Breast cancer research and treatment 2020 Apr -
Targeted next-generation sequencing of circulating cell-free DNA vs bone marrow in patients with acute myeloid leukemia.
Short Nicholas J et al. Blood advances 2020 Apr 4(8) 1670-1677 -
High-risk and intermediate-high-risk results from the ThyroSeq v2 and v3 thyroid genomic classifier are associated with neoplasia: Independent performance assessment at an academic institution.
Jug Rachel et al. Cancer cytopathology 2020 Apr -
Clinically high-risk breast cancer displays markedly discordant molecular risk predictions between the MammaPrint and EndoPredict tests.
Jahn Stephan Wenzel et al. British journal of cancer 2020 Apr -
Acceptability and outcomes of multigene panel testing among young Black breast cancer survivors.
Conley Claire C et al. The breast journal 2020 Apr
Chronic Disease
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Precision health: A pragmatic approach to understanding and addressing key factors in autoimmune diseases.
Conrad Karsten et al. Autoimmunity reviews 2020 May 19(5) 102508 -
Predicting Cognitive Impairment and Dementia: A Machine Learning Approach.
Aschwanden Damaris et al. Journal of Alzheimer's disease : JAD 2020 Apr -
Diabetes and Genetics: A Relationship Between Genetic Risk Alleles, Clinical Phenotypes and Therapeutic Approaches.
Sayed Shomoita et al. Advances in experimental medicine and biology 2020 Apr -
A precision medicine framework using artificial intelligence for the identification and confirmation of genomic biomarkers of response to an Alzheimer's disease therapy: Analysis of the blarcamesine (ANAVEX2-73) Phase 2a clinical study.
Hampel Harald et al. Alzheimer's & dementia (New York, N. Y.) 2020 6(1) e12013 -
Understanding the Pathogenesis, Therapeutic Targets/Drug Action and Pharmacogenetics of Type 2 Diabetes: Is there a Future for Personalised Medicine?
Engwa Godwill Azeh et al. Endocrine, metabolic & immune disorders drug targets 2020 Apr -
Predicting onset of secondary-progressive multiple sclerosis using genetic and non-genetic factors.
Misicka Elina et al. Journal of neurology 2020 Apr -
Blood-based test for diagnosis and functional subtyping of familial Mediterranean fever.
Van Gorp Hanne et al. Annals of the rheumatic diseases 2020 Apr -
Accuracy of Biomarker Testing for Neuropathologically Defined Alzheimer Disease in Older Adults With Dementia: A Systematic Review.
Fink Howard A et al. Annals of internal medicine 2020 Apr
Ethics/Policy/Law
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Ethical issues related to research on genome editing in human embryos.
Niemiec Emilia et al. Computational and structural biotechnology journal 2020 18887-896 -
The care of patients with Duchenne, Becker and other muscular dystrophies in the COVID-19 pandemic.
Veerapandiyan Aravindhan et al. Muscle & nerve 2020 Apr -
Affording Genetic Therapies in the Medicaid Program.
Ballreich Jeromie et al. JAMA pediatrics 2020 Apr
Practice
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110 Implementation of Personalized Medicine in a Community Psychiatry Practice.
Umbreit Audrey et al. CNS spectrums 2020 Apr 25(2) 271 -
The enduring importance of family health history in the era of genomic medicine and risk assessment.
Haga Susanne B et al. Personalized medicine 2020 Apr -
Genetic Counseling Service Delivery Models in the United States: Assessment of changes in use from 2010 to 2017.
Greenberg Samantha E et al. Journal of genetic counseling 2020 Apr -
Sync for Genes: Making Clinical Genomics Available for Precision Medicine at the Point-of-Care.
Garcia Stephanie J et al. Applied clinical informatics 2020 11(2) 295-302 -
Precision Health: The Role of the Social and Behavioral Sciences in Advancing the Vision.
Hekler Eric et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2020 Apr -
Challenges in the clinical implementation of precision medicine companion diagnostics.
Keeling Peter et al. Expert review of molecular diagnostics 2020 Apr 1-7 -
Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.
White Stephanie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr
Heart, Lung, Blood and Sleep Diseases
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Heritable thrombophilia test utilization and cost savings following guideline-based restrictions: An interrupted time series analysis.
Bergstrom Debra et al. Thrombosis research 2020 Apr 19079-85 -
Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications.
Aragam Krishna G et al. Circulation research 2020 Apr 126(9) 1159-1177 -
A catalog of the pathogenic mutations of LDL receptor gene in Japanese familial hypercholesterolemia.
Tada Hayato et al. Journal of clinical lipidology 2020 Mar -
Familial hypercholesterolemia: is it time to separate monogenic from polygenic familial hypercholesterolemia?
Brandts Julia et al. Current opinion in lipidology 2020 Apr -
Multilevel omics for the discovery of biomarkers and therapeutic targets for stroke.
Montaner Joan et al. Nature reviews. Neurology 2020 Apr -
Electrophoretic α1-globulin for screening of α1-antitrypsin deficient variants.
Scarlata Simone et al. Clinical chemistry and laboratory medicine 2020 Apr -
Genetic epidemiology of beta-thalassemia in the Maldives: 23 years of a beta-thalassemia screening program.
Mustafa Ibrahim et al. Gene 2020 May 741144544 -
Penetrance is a critical parameter for assessing the disease liability of CFTR variants.
Boussaroque A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2020 Apr
Pharmacogenomics
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150 HAM-D6 Outcomes in a Randomized, Controlled Trial Evaluating the Utility of Combinatorial Pharmacogenomics in Depression.
Dunlop Boadie W et al. CNS spectrums 2020 Apr 25(2) 295-296 -
137 CME on Pharmacogenomics Testing Improves Knowledge, Competence, and Confidence Related to Implementing Testing in Practice.
Lucero Katie S et al. CNS spectrums 2020 Apr 25(2) 287 -
Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.
van der Wouden Cathelijne H et al. Pharmacogenetics and genomics 2020 Apr -
A Pharmacogenetically Guided Acenocoumarol Dosing Algorithm for Chilean Patients: A Discovery Cohort Study.
Roco Angela et al. Frontiers in pharmacology 2020 11325 -
Implementation of pharmacogenomics in product information.
Skvrce Nikica Miroševic et al. Pharmacogenomics 2020 Apr -
Pharmacogenetic associations and evidence-based pharmacogenomics guidelines: supporting label and off-label use of drug-gene interaction data.
Kisor David F et al. Pharmacogenomics 2020 Apr
Reproductive Health
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Autonomous decisions by couples in reproductive care.
Matar Amal et al. BMC medical ethics 2020 Apr 21(1) 30 -
Does the prognosis after PGT for structural rearrangement differ between female and male translocation carriers?
Mayeur Anne et al. Reproductive biomedicine online 2020 Feb -
Celocentesis for early prenatal diagnosis of hemoglobinopathies.
Makrydimas George et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2020 Apr -
The status of preimplantation genetic testing in the UK and USA.
Theobald Rachel et al. Human reproduction (Oxford, England) 2020 Apr