Published on 08/26/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.
Nevado Julián et al. Frontiers in genetics 2021 12645595 -
Clinical utility and cost-effectiveness analysis of chromosome testing concomitant with chromosomal microarray of patients with constitutional disorders in a U.S. academic medical center.
Su Meng et al. Journal of genetic counseling 2021
Cancer Genomics
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Genomically Guided Breast Radiation Therapy: A Review of the Current Data and Future Directions.
Liveringhouse Casey L et al. Advances in radiation oncology 2021 6(4) 100731 -
ctDNA analysis in the personalized clinical management of gastroesophageal adenocarcinoma: turning hope into reality.
Salati Massimiliano et al. Future oncology (London, England) 2021 -
Early Cost Effectiveness of Whole-Genome Sequencing as a Clinical Diagnostic Test for Patients with Inoperable Stage IIIB,C/IV Non-squamous Non-small-Cell Lung Cancer.
Simons Martijn J H G et al. PharmacoEconomics 2021 -
HOXC11 Expression Is Associated with the Progression of Colon Adenocarcinoma and Is a Prognostic Biomarker.
Liu Linna et al. DNA and cell biology 2021 -
Lung adenocarcinoma with ERBB2 exon 20 insertions: Comutations and immunogenomic features related to chemoimmunotherapy.
Tian Panwen et al. Lung cancer (Amsterdam, Netherlands) 2021 16050-58 -
The genomics and epigenetics of olfactory neuroblastoma: A systematic review.
Kaur Raman Preet et al. Laryngoscope investigative otolaryngology 2021 6(4) 721-728
Hereditary Cancer
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Genetic epidemiology of BRCA1- and BRCA2-associated cancer across Latin America.
Herzog Josef S et al. NPJ breast cancer 2021 7(1) 107 -
Integrating Tumor Sequencing Into Clinical Practice for Patients With Mismatch Repair-Deficient Lynch Syndrome Spectrum Cancers.
Dixon Katherine et al. Clinical and translational gastroenterology 2021 12(8) e00397 -
Informed choice and attitudes regarding a genomic test to predict risk of colorectal cancer in general practice.
Saya Sibel et al. Patient education and counseling 2021 -
The impact of risk reducing bilateral salpingo-oophorectomy on sexual function in BRCA1/2 mutation carriers and women with Lynch syndrome: A systematic review and meta-analysis.
Kershaw Victoria et al. European journal of obstetrics, gynecology, and reproductive biology 2021 2657-17
Chronic Disease
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Probability of Alzheimer's disease based on common and rare genetic variants.
Escott-Price Valentina et al. Alzheimer's research & therapy 2021 13(1) 140
Ethics/Policy/Law
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Governing Heritable Human Genome Editing: A Textual History and a Proposal for the Future.
Walters LeRoy et al. The CRISPR journal 2021 4(4) 469-476 -
Considering potential solutions for limitations and challenges in the health economic evaluation of gene therapies.
Pochopien Michal et al. Expert review of pharmacoeconomics & outcomes research 2021 -
Making sense of it all: Ethical reflections on the conditions surrounding the first genome-edited babies.
Chen Qi et al. Wellcome open research 2021 5216
Practice
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"Being proactive, not reactive": exploring perceptions of genetic testing among White, Latinx, and Pacific Islander Populations.
Chavez-Yenter Daniel et al. Journal of community genetics 2021 -
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
Haverfield Eden V et al. BMC medicine 2021 19(1) 199 -
Magnitude of Mendelian versus complex inheritance of rare disorders.
Chakravarti Aravinda et al. American journal of medical genetics. Part A 2021
Heart, Lung, Blood and Sleep Diseases
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Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.
Landstrom Andrew P et al. Circulation. Genomic and precision medicine 2021 HCG0000000000000086 -
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson Eythór et al. Arteriosclerosis, thrombosis, and vascular biology 2021 ATVBAHA120315904 -
Cutaneous manifestations in familial hypercholesterolaemia.
Katzmann Julius L et al. Atherosclerosis 2021 -
Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.
Abraham Gad et al. Stroke 2021 STROKEAHA120032619 -
Uptake of Screening and Recurrence of Bicuspid Aortic Valve and Thoracic Aortic Aneurysm Among At-Risk Siblings of Pediatric Probands.
Miller Daniel et al. The Journal of pediatrics 2021 -
Comparison of plasmapheresis with medical apheresis in terms of efficacy and cost in the acute treatment of hypertriglyceridemia in children with lipoprotein lipase deficiency.
Erdol Sahin et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
Newborn Screening
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Estimate of the contemporary live-birth prevalence of recurrent 22q11.2 deletions: a cross-sectional analysis from population-based newborn screening.
Blagojevic Christina et al. CMAJ open 2021 9(3) E802-E809 -
Detecting Hearing Loss in Infants With a Syndrome or Craniofacial Abnormalities Following the Newborn Hearing Screen.
Horn Philippa et al. Journal of speech, language, and hearing research : JSLHR 2021 1-9
Pharmacogenomics
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Comparison of clinical pharmacogenetic recommendations across therapeutic areas.
Shugg Tyler et al. Pharmacogenetics and genomics 2021 -
Pharmacogenomics Guided Prescription Changes Improved Medication Effectiveness in Patients With Mental Health-Related Disability: A Retrospective Cohort Analyses.
Ahmed Sanjida et al. Frontiers in genetics 2021 12644694
Reproductive Health
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Attitudes of sperm donors towards offspring, identity release and extended genetic screening.
Pennings Guido et al. Reproductive biomedicine online 2021 -
A decision tree model for predicting live birth in FMR1 premutation carriers undergoing preimplantation genetic testing for monogenic/single gene defects.
Cohen Yoni et al. Reproductive biomedicine online 2021 -
Influence of fibroids on cell-free DNA screening accuracy.
Scott F et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2021
Eventr
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Facilitating Conversations About Hereditary Cancer Among Underserved Populations
Michigan Cancer Genetics Alliance Virtual Conference via Zoom, Friday, August 27, 2021, 9 a.m. - 12:15 p.m.