Published on 11/24/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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
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
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
The ethical implications of genetic testing in neurodegenerative diseases: A systematic review.
Nurmi Sanna-Maria et al. Scandinavian journal of caring sciences 2020 Nov
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
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
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
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 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
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