Published on 09/02/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia Francesca et al. Translational vision science & technology 2020 Jul 9(8) 30 -
Excess of RALGAPB de novo variants in neurodevelopmental disorders.
Shah Abid Ali et al. European journal of medical genetics 2020 Aug 104041 -
Long-term screening for primary mitochondrial DNA variants associated with Leber Hereditary Optic Neuropathy: incidence, penetrance and clinical features.
Marotta Rosetta et al. Mitochondrion 2020 Aug -
Cognitive functioning and pain interference mediate pain predictive effects on health-related quality of life in pediatric patients with Neurofibromatosis Type 1.
Varni James W et al. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020 Aug -
An Integrative Review of Current Practice Models and/or Process of Family-Centered Early Intervention for Children Who Are Deaf or Hard of Hearing.
Maluleke Ntsako P et al. Family & community health 2020 Aug -
Genetic testing for inherited retinal degenerations: Triumphs and tribulations.
Branham Kari et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Aug
Cancer Genomics
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SOX1 Promoter Hypermethylation as a Potential Biomarker for High-Grade Squamous Intraepithelial Neoplasia Lesion and Cervical Carcinoma: A Meta-Analysis With Trial Sequential Analysis.
Huang Jin et al. Frontiers in genetics 2020 11633 -
DICER1 Mutations in the Era of Expanding Integrative Clinical Sequencing in Pediatric Oncology.
Bailey Kelly M et al. JCO precision oncology 2019 3 -
Clinical Utility of Gene Expression Classifiers in Men With Newly Diagnosed Prostate Cancer.
Hu Jonathan C et al. JCO precision oncology 2018 2 -
Integration of Germline Pharmacogenetics Into a Tumor Sequencing Program.
Hertz Daniel L et al. JCO precision oncology 2018 2 -
Cost-effectiveness analysis comparing "PARP inhibitors-for-all" to the biomarker-directed use of PARP inhibitor maintenance therapy for newly diagnosed advanced stage ovarian cancer.
Gonzalez Rafael et al. Gynecologic oncology 2020 Aug -
Recommendations for the use of next-generation sequencing (NGS) for patients with metastatic cancers: A report from the ESMO Precision Medicine Working Group.
Mosele F et al. Annals of oncology : official journal of the European Society for Medical Oncology 2020 Jul -
Clinical implications of HER2 mRNA expression and intrinsic subtype in refractory HER2-positive metastatic breast cancer treated with pan-HER inhibitor, poziotinib.
Kim Ji-Yeon et al. Breast cancer research and treatment 2020 Aug -
Incorporating MRI and biomarkers in active surveillance protocols - results from the prospective Stockholm3 Active Surveillance trial (STHLM3AS).
Olsson Henrik et al. Journal of the National Cancer Institute 2020 Aug -
Oncology workforce skills and competencies required for molecular medicine.
Groves Emma et al. European journal of hospital pharmacy : science and practice 2020 Sep 27(5) 249-250
Hereditary Cancer
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Upper endoscopy surveillance in Lynch syndrome detects gastric and duodenal adenocarcinomas.
Kumar Shria et al. Cancer prevention research (Philadelphia, Pa.) 2020 Aug -
Genetic Counseling for Hereditary Gastric and Pancreatic Cancer in High-Risk Gastrointestinal Cancer Clinics: An Effective Strategy.
Llach Joan et al. Cancers 2020 Aug 12(9) -
Management of high, moderate, and low penetrance ovarian cancer susceptibility mutations: an assessment of current risk reduction practices.
Watson Catherine H et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2020 Aug -
Germline DNMT3A mutation in familial acute myeloid leukaemia.
DiNardo Courtney D et al. Epigenetics 2020 Aug 1-10 -
Frequency and Association Of GSTM1 and GSTT1 Gene Polymorphisms with Survival in Breast Cancer Patients.
Tangkhuenkhan Phakarat et al. Asian Pacific journal of cancer prevention : APJCP 2020 Aug 21(8) 2251-2257 -
Personalizing Breast Cancer Screening Based on Polygenic Risk and Family History.
van den Broek Jeroen J et al. Journal of the National Cancer Institute 2020 Aug -
Informing models of cancer genetic care in the era of multigene panel testing with patient-led recommendations.
Underhill-Blazey Meghan et al. Journal of genetic counseling 2020 Aug -
Screening women at high risk for breast cancer: one program fits all? : Subgroup analysis of a large population high risk breast screening program.
Hermann Naama et al. Breast cancer research and treatment 2020 Aug -
Prevalence and molecular characteristics of DNA mismatch repair deficient endometrial cancer in a Japanese hospital-based population.
Yamamoto Azusa et al. Japanese journal of clinical oncology 2020 Aug
Chronic Disease
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Genetics of smoking behavior in American Indians.
Henderson Jeffrey A et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2020 Aug -
Assessment of CFH and HTRA1 polymorphisms in age-related macular degeneration using classic and machine-learning approaches.
Martínez-Velasco Antonieta et al. Ophthalmic genetics 2020 Aug 1-9 -
Genome-wide association study and meta-analysis on alcohol-related liver cirrhosis identifies novel genetic risk factors.
Schwantes-An Tae-Hwi et al. Hepatology (Baltimore, Md.) 2020 Aug -
Development of Proteomic Prediction Models for Transition to Psychotic Disorder in the Clinical High-Risk State and Psychotic Experiences in Adolescence.
Mongan David et al. JAMA psychiatry 2020 Aug -
A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility.
Ibarra Moreno Carlos A et al. British journal of anaesthesia 2020 Aug -
Genetic variants and functional pathways associated with resilience to Alzheimer's disease.
Dumitrescu Logan et al. Brain : a journal of neurology 2020 Aug 143(8) 2561-2575 -
Polygenic risk for anxiety influences anxiety comorbidity and suicidal behavior in bipolar disorder.
Lopes Fabiana L et al. Translational psychiatry 2020 Aug 10(1) 298
Ethics/Policy/Law
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Survey of palliative care providers' needs, perceived roles, and ethical concerns about addressing cancer family history at the end of life.
Cléophat Jude E et al. Palliative & supportive care 2020 Aug 1-6 -
Improving Community Advisory Board Engagement in Precision Medicine Research to Reduce Health Disparities.
Connors Erin et al. Journal of health disparities research and practice 2019 12(6) 80-94 -
Responsible Translational Pathways for Germline Gene Editing?
Cwik Bryan et al. Current stem cell reports 2020 Aug 1-8 -
Ethical issues raised by intergenerational monitoring in clinical trials of germline gene modification.
Yeager Austen et al. Journal of medical ethics 2020 Aug -
Public engagement with genomic medicine: a summary of town hall discussions.
Etchegary Holly et al. Journal of community genetics 2020 Aug
Practice
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Editorial: Educating Health Professionals in Genomic Medicine: Evidence-Based Strategies and Approaches.
Metcalfe Sylvia A et al. Frontiers in genetics 2020 11696 -
Assessing performance of pathogenicity predictors using clinically relevant variant datasets.
Gunning Adam C et al. Journal of medical genetics 2020 Aug -
Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
Bertoli-Avella Aida M et al. European journal of human genetics : EJHG 2020 Aug -
Randomized controlled trial on the effectiveness of web-based Genomics Nursing Education Intervention for undergraduate nursing students: a study protocol.
Dumo Anndra Margareth et al. Journal of advanced nursing 2020 Aug
Heart, Lung, Blood and Sleep Diseases
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Cystic fibrosis newborn screening: the importance of bloodspot sample quality.
Doull Iolo et al. Archives of disease in childhood 2020 Aug -
Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease.
Aryan Zahra et al. Circulation. Genomic and precision medicine 2020 Aug -
High prevalence of increased sitosterol levels in hypercholesterolemic children suggest underestimation of sitosterolemia incidence.
Lee Joon Hee et al. PloS one 2020 15(8) e0238079 -
Very high-risk familial hypercholesterolaemia patients in real life: The remaining gap in achieving the current LDL-C targets despite the use of PCSK9 inhibitors.
Rallidis Loukianos S et al. Atherosclerosis 2020 Jul -
United States Pulmonary Hypertension Scientific Registry (USPHSR): Baseline Characteristics.
Badlam Jessica B et al. Chest 2020 Aug -
An Innovative Multilevel Test for Hemoglobinopathies: TGA/Chemometrics Simultaneously Identifies and Classifies Sickle Cell Disease From Thalassemia.
Risoluti Roberta et al. Frontiers in molecular biosciences 2020 7141 -
Apolipoprotein A2 Isoforms in Relation to the Risk of Myocardial Infarction: A Nested Case-Control Analysis in the JPHC Study.
Kihara Tomomi et al. Journal of atherosclerosis and thrombosis 2020 Aug -
First-Degree Relatives Screening of Patients with Bicuspid Aortic Valve: Effectiveness and Feasibility in Pediatric Cardiology Daily Practice.
Massardier Claire et al. Pediatric cardiology 2020 Aug -
Evaluation of a screening program for iron overload and HFE mutations in 50,493 blood donors.
Eckerström Carl et al. Annals of hematology 2020 Aug -
The Use of Risk Enhancing Factors to Personalize ASCVD Risk Assessment: Evidence and Recommendations from the 2018 AHA/ACC Multi-society Cholesterol Guidelines.
Agarwala Anandita et al. Current cardiovascular risk reports 2019 13(7)
Pharmacogenomics
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CYP2D6 Expression in Veterans Experiencing Opioid Overdose: A Postmortem Review.
Boyle Julia et al. Pharmacogenomics and personalized medicine 2020 13289-293 -
Barriers to Implementing Clinical Pharmacogenetics Testing in Sub-Saharan Africa. A Critical Review.
B Tata Emiliene et al. Pharmaceutics 2020 Aug 12(9) -
Pharmacogenomics of COVID-19 therapies.
Takahashi Takuto et al. NPJ genomic medicine 2020 535 -
Pediatric pharmacogenomics: challenges and opportunities: on behalf of the Sanford Children's Genomic Medicine Consortium.
Gregornik David et al. The pharmacogenomics journal 2020 Aug -
Pharmacogenomics cascade testing (PhaCT): a novel approach for preemptive pharmacogenomics testing to optimize medication therapy.
Roosan Don et al. The pharmacogenomics journal 2020 Aug -
Pharmacogenetic studies of thiopurine methyltransferase genotype-phenotype concordance and effect of methotrexate on thiopurine metabolism.
Zimdahl Kahlin Anna et al. Basic & clinical pharmacology & toxicology 2020 Aug
Reproductive Health
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A systematic review exploring the patient decision-making factors and attitudes towards pre-implantation genetic testing for aneuploidy and gender selection.
Bracewell-Milnes Timothy et al. Acta obstetricia et gynecologica Scandinavica 2020 Aug -
Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions.
Kucharik Marcel et al. PloS one 2020 15(8) e0238245 -
De novo mutations in idiopathic male infertility - a pilot study.
Hodžic A et al. Andrology 2020 Aug
Eventr
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International Commission on the Clinical Use of Human Germline Genome Editing - Report Release Webinar
Sep 3, 2020 - 10:15AM - 11:15AM ET