Published on 11/24/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Characterization of Reference Materials for Spinal Muscular Atrophy Genetic Testing: A GeT-RM Collaborative Project.
Prior Thomas W et al. The Journal of molecular diagnostics : JMD 2020 Nov -
The Landscape of Severe Combined Immunodeficiency Newborn Screening in the United States in 2020: A Review of Screening Methodologies and Targets, Communication Pathways, and Long-Term Follow-Up Practices.
Sheller Ruthanne et al. Frontiers in immunology 2020 11577853 -
Clinical sequencing yield in epilepsy, autism spectrum disorder, and intellectual disability: A systematic review and meta-analysis.
Stefanski Arthur et al. Epilepsia 2020 Nov -
An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist.
Mena Rafael et al. American journal of medical genetics. Part C, Seminars in medical genetics 2020 Nov
Cancer Genomics
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Assessment of HER2 Protein Overexpression and Gene Amplification in Renal Collecting Duct Carcinoma: Therapeutic Implication.
Costantini Manuela et al. Cancers 2020 Nov 12(11) -
[The role of combined BRAF V600E gene detection in the diagnosis of thyroid nodule determined as Bethesda Ⅲ by fine-needle aspiration].
Zhou B et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2020 Nov 55(11) 1057-1062 -
Epithelial Splicing Regulatory Protein (ESPR1) Expression in an Unfavorable Prognostic Factor in Prostate Cancer Patients.
Lee Hyung Ho et al. Frontiers in oncology 2020 10556650 -
Mutation profile differences in younger and older patients with advanced breast cancer using circulating tumor DNA (ctDNA).
Clifton Katherine et al. Breast cancer research and treatment 2020 Nov -
Cost-Effectiveness Analysis of Biological Signature DCISionRT Use for DCIS Treatment.
Kim Hayeon et al. Clinical breast cancer 2020 Oct
Hereditary Cancer
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Prevalence and Correlates of Family Cancer History Knowledge and Communication Among US Adults.
Krakow Melinda et al. Preventing chronic disease 2020 Nov 17E146 -
New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.
Djursby Malene et al. Frontiers in genetics 2020 11566266 -
NCCN Updates Guidelines for Hereditary Cancer Risks.
et al. American journal of medical genetics. Part A 2020 Dec 182(12) 2813-2814 -
Testing for lynch syndrome in people with endometrial cancer using immunohistochemistry and microsatellite instability-based testing strategies - A systematic review of test accuracy.
Stinton Chris et al. Gynecologic oncology 2020 Oct -
Genomic Profiling Comparison of Germline BRCA and Non- BRCA Carriers Reveals CCNE1 Amplification as a Risk Factor for Non- BRCA Carriers in Patients With Triple-Negative Breast Cancer.
Huang Xin et al. Frontiers in oncology 2020 10583314 -
BRCA-Related Cancer Genetic Counseling is Indicated in Many Women Seeking Primary Care.
Parente Daniel J et al. Journal of the American Board of Family Medicine : JABFM 33(6) 885-893
Chronic Disease
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The ethical implications of genetic testing in neurodegenerative diseases: A systematic review.
Nurmi Sanna-Maria et al. Scandinavian journal of caring sciences 2020 Nov
Ethics/Policy/Law
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Transparency, trust, and community welfare: towards a precision public health ethics framework for the genomics era.
Juengst Eric T et al. Genome medicine 2020 Nov 12(1) 98
Practice
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Post-GWAS Polygenic Risk Score: Utility and Challenges.
Nguyen Tuan V et al. JBMR plus 2020 Nov 4(11) e10411 -
Bioinformatics, Sequencing Accuracy, and the Credibility of Clinical Genomics.
Feero W Gregory et al. JAMA 2020 Nov 324(19) 1945-1947 -
A decision aid for additional findings in genomic sequencing: Development and pilot testing.
Freed Amanda S et al. Patient education and counseling 2020 Nov
Heart, Lung, Blood and Sleep Diseases
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2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines.
Ommen Steve R et al. Circulation 2020 Nov CIR0000000000000938 -
Patients with Hypertrophic Cardiomyopathy Deemed Genotype Negative Based on Research Grade Genetic Analysis: Time for Repeat Diagnostic Testing with Next Generation Sequencing.
O'Hare Bailey J et al. Circulation. Genomic and precision medicine 2020 Nov
Newborn Screening
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Using Informatics to Build a Digital Health Footprint of Patients Living With Inherited Metabolic Disorders Identified by Newborn Screening.
Singh Rani H et al. Journal of public health management and practice : JPHMP 2020 Nov -
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots.
Hong Xinying et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov -
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu Can et al. International journal of neonatal screening 2020 Nov 6(4)
Pharmacogenomics
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Pharmacogenomics for Primary Care: An Overview.
Rollinson Victoria et al. Genes 2020 Nov 11(11) -
Cost-effectiveness of genetic and clinical predictors for choosing combined psychotherapy and pharmacotherapy in major depression.
Fabbri Chiara et al. Journal of affective disorders 2020 Oct 279722-729 -
Differences in predicted warfarin dosing requirements between Hmong and East Asians using genotype-based dosing algorithms.
Sun Boguang et al. Pharmacotherapy 2020 Nov
Reproductive Health
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Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.
Capalbo Antonio et al. Human reproduction update 2020 Nov -
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort.
Talati Asha N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Nov -
Impact of a national population-based carrier-screening program on spinal muscular atrophy births.
Aharoni Sharon et al. Neuromuscular disorders : NMD 2020 Oct -
Psychological measures of patient's decision-making for prenatal genetic testing.
Herrera Kimberly M 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 Nov 1-7