Published on 10/29/2020
Human Genomics across the Lifespan
Birth Defects and Child Health
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Association of Damaging Variants in Genes With Increased Cancer Risk Among Patients With Congenital Heart Disease.
Morton Sarah U et al. JAMA cardiology 2020 Oct
Cancer Genomics
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Cetuximab in Patients with Breast Cancer, Non-Small Cell Lung Cancer, and Ovarian Cancer Without KRAS, NRAS, or BRAF Mutations: Results from the Targeted Agent and Profiling Utilization Registry (TAPUR) Study.
Fisher Julie G et al. Targeted oncology 2020 Oct -
Genomic aberrations and late recurrence in postmenopausal women with hormone receptor-positive early breast cancer: Results from the SOLE Trial.
Guerini-Rocco Elena et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 Oct -
Survival, Pathologic Response, and Genomics in CALGB 40601 (Alliance), a Neoadjuvant Phase III Trial of Paclitaxel-Trastuzumab With or Without Lapatinib in HER2-Positive Breast Cancer.
Fernandez-Martinez Aranzazu et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020 Oct JCO2001276 -
Improving lung cancer risk stratification leveraging whole transcriptome RNA sequencing and machine learning across multiple cohorts.
Choi Yoonha et al. BMC medical genomics 2020 Oct 13(Suppl 10) 151 -
Public Comment on Draft Recommendation Statement, Draft Evidence Review, and Draft Modeling Report: Screening for Colorectal Cancer
This document is available for Public Comments until Nov 23, 2020 11:59 PM EDT -
Utility of methylthioadenosine phosphorylase immunohistochemical deficiency as a surrogate for CDKN2A homozygous deletion in the assessment of adult-type infiltrating astrocytoma.
Satomi Kaishi et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 Oct -
Genetic Alterations in the INK4a/ARF Locus: Effects on Melanoma Development and Progression.
Ming Zizhen et al. Biomolecules 2020 Oct 10(10) -
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies.
Prieto-Potin Iván et al. PeerJ 2020 8e10069 -
Variation in Breast Cancer Subtype Incidence and Distribution by Race/Ethnicity in the United States From 2010 to 2015.
Kong Xiangyi et al. JAMA network open 2020 Oct 3(10) e2020303
Hereditary Cancer
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African-Americans Are Less Frequently Assessed For Hereditary Colon Cancer.
Garland Victoria et al. Journal of the National Medical Association 2020 Oct -
Impact of Personalized Genetic Breast Cancer Risk Estimation With Polygenic Risk Scores on Preventive Endocrine Therapy Intention and Uptake.
Kim Julian O et al. Cancer prevention research (Philadelphia, Pa.) 2020 Oct -
Age at initiation of screening mammography by family history of breast cancer in the breast cancer surveillance consortium.
Durham Danielle D et al. Cancer causes & control : CCC 2020 Oct -
Frequency and spectrum of mutations across 94 cancer predisposition genes in African American women with invasive breast cancer.
Lovejoy Leann A et al. Familial cancer 2020 Oct -
Surveillance recommendations for patients with Lynch syndrome and FAP : a monocentric study.
Baert L et al. Acta gastro-enterologica Belgica 83(3) 399-405 -
The factors associated with distress a minimum of six months after BRCA1/2 confirmation: A systematic review.
Butler Ellen et al. Journal of psychosocial oncology 2020 Oct 1-27
Chronic Disease
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Predictive testing for neurodegenerative diseases in the age of next-generation sequencing.
Goldman Jill et al. Journal of genetic counseling 2020 Oct -
Study on sleep-wake disorders in patients with genetic and non-genetic amyotrophic lateral sclerosis.
Sun Xiaohan et al. Journal of neurology, neurosurgery, and psychiatry 2020 Oct -
Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry.
Blue Elizabeth E et al. JAMA network open 2020 Oct 3(10) e2017666 -
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.
Kunkle Brian W et al. JAMA neurology 2020
Ethics/Policy/Law
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Autonomy and social influence in predictive genetic testing decision-making: A qualitative interview study.
Zimmermann Bettina M et al. Bioethics 2020 Oct -
Human Germ Line and Heritable Genome Editing: The Global Policy Landscape.
Baylis Françoise et al. The CRISPR journal 2020 Oct 3(5) 365-377
Practice
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Strategic vision for improving human health at The Forefront of Genomics
ED Green et al, Nature, October 28, 2020 -
A secure system for genomics clinical decision support.
Karimi Seemeen et al. Journal of biomedical informatics 2020 Oct 103602 -
Measuring clinical utility in the context of genetic testing: a scoping review.
Walcott Shantel E et al. European journal of human genetics : EJHG 2020 Oct -
Perceptions of provider's epistemic authority in response to variant of uncertain significance-related recommendations.
Makhnoon Sukh et al. Journal of genetic counseling 2020 Oct -
Evaluating co-created patient-facing materials to increase understanding of genetic test results.
Dwyer Andrew A et al. Journal of genetic counseling 2020 Oct -
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout Cristopher V et al. Nature 2020 Oct
Heart, Lung, Blood and Sleep Diseases
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Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.
Trinder Mark et al. Circulation. Genomic and precision medicine 2020 Oct 13(5) 515-523 -
Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.
Downes Kate et al. Journal of thrombosis and haemostasis : JTH 2020 Oct 18(10) 2751-2758 -
Treatment of heterozygous familial hypercholesterolemia: what does the future hold?
Polychronopoulos Georgios et al. Expert review of clinical pharmacology 2020 Oct -
Sickle Cell Disease-Genetics, Pathophysiology, Clinical Presentation and Treatment.
Inusa Baba P D et al. International journal of neonatal screening 2019 Jun 5(2) 20 -
Thalassemias: An Overview.
Angastiniotis Michael et al. International journal of neonatal screening 2019 Mar 5(1) 16 -
Genetics, coronary artery disease, and myocardial revascularization: will novel genetic risk scores bring new answers?
Hui Sonya Kit et al. Indian journal of thoracic and cardiovascular surgery : official organ, Association of Thoracic and Cardiovascular Surgeons of India 2018 Dec 34(Suppl 3) 213-221
Newborn Screening
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Expanding Newborn Screening for Pompe Disease in the United States: The NewSTEPs New Disorders Implementation Project, a Resource for New Disorder Implementation.
Hale Kshea et al. International journal of neonatal screening 2020 Jun 6(2) 48 -
Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.
Sinclair Graham et al. International journal of neonatal screening 2020 Jun 6(2) 46 -
Implementing Statewide Newborn Screening for New Disorders: U.S. Program Experiences.
Kellar-Guenther Yvonne et al. International journal of neonatal screening 2020 Jun 6(2) 35 -
Processing Newborn Bloodspot Screening Results for CF.
Barben Jürg et al. International journal of neonatal screening 2020 Jun 6(2) 25 -
Newborn Screening Long Term Follow-Up in the Medical Home.
Badawi Deborah et al. International journal of neonatal screening 2019 Sep 5(3) 25 -
A Newborn Screening Education Best Practices Framework: Development and Adoption.
Evans Adrianna et al. International journal of neonatal screening 2019 Jun 5(2) 22 -
Are We Ready for Fragile X Newborn Screening Testing?-Lessons Learnt from a Feasibility Study.
Wotton Tiffany et al. International journal of neonatal screening 2018 Mar 4(1) 9 -
Mucopolysaccharidosis type I newborn screening: Importance of second tier testing for ethnically diverse populations.
Bosfield Kerri et al. American journal of medical genetics. Part A 2020 Oct -
Newborn Screening Knowledge and Attitudes Among Midwives and Out-of-Hospital-Birth Parents.
Coupal Elena et al. The Journal of perinatal & neonatal nursing 34(4) 357-364 -
Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations.
Lloyd-Puryear Michele A et al. International journal of neonatal screening 2018 Mar 4(1) 6 -
NewSTEPs: The Establishment of a National Newborn Screening Technical Assistance Resource Center.
Ojodu Jelili et al. International journal of neonatal screening 2018 Mar 4(1) 1 -
Newborn Screening for CF across the Globe- Where Is It Worthwhile ?
Scotet Virginie et al. International journal of neonatal screening 2020 Mar 6(1) 18 -
Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug Tracy L et al. International journal of neonatal screening 2020 Mar 6(1) 11 -
The First Year Experience of Newborn Screening for Pompe Disease in California.
Tang Hao et al. International journal of neonatal screening 2020 Mar 6(1) 9 -
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton Barbara K et al. International journal of neonatal screening 2020 Mar 6(1) 4 -
Factors Influencing Parental Awareness about Newborn Screening.
Franková Vera et al. International journal of neonatal screening 2019 Sep 5(3) 35 -
Development of National Newborn Screening Quality Indicators in the United States.
Yusuf Careema et al. International journal of neonatal screening 2019 Sep 5(3) 34 -
Analyzing Patterns in NewSTEPs Site Review Recommendations: Practical Applications for Newborn Screening Programs.
Kellar-Guenther Yvonne et al. International journal of neonatal screening 2019 Mar 5(1) 13 -
A Multicentre Pilot Study of a Two-Tier Newborn Sickle Cell Disease Screening Procedure with a First Tier Based on a Fully Automated MALDI-TOF MS Platform.
Naubourg Pierre et al. International journal of neonatal screening 2019 Mar 5(1) 10 -
National Survey Assessment of the United States' Pediatric Residents' Knowledge, Attitudes, and Practices Regarding Newborn Screening.
Bansal Shipra et al. International journal of neonatal screening 2019 Mar 5(1) 3 -
Evaluation of Technical Issues in a Pilot Multicenter Newborn Screening Program for Sickle Cell Disease.
Martella Maddalena et al. International journal of neonatal screening 2019 Mar 5(1) 2 -
Newborn Screening for SCD in the USA and Canada.
El-Haj Nura et al. International journal of neonatal screening 2018 Dec 4(4) 36
Pharmacogenomics
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Warfarin dosing algorithms: a systematic review.
Asiimwe Innocent G et al. British journal of clinical pharmacology 2020 Oct -
Diagnostic Test Criteria for HLA Genotyping to Prevent Drug Hypersensitivity Reactions: A Systematic Review of Actionable HLA Recommendations in CPIC and DPWG Guidelines.
Manson Lisanne E N et al. Frontiers in pharmacology 2020 11567048 -
Global distribution of CYP2C19 risk phenotypes affecting safety and effectiveness of medications.
Biswas Mohitosh et al. The pharmacogenomics journal 2020 Oct -
CYP2D6 and Antipsychotic Treatment Outcomes in Children and Youth: A Systematic Review.
Maruf Abdullah Al et al. Journal of child and adolescent psychopharmacology 2020 Oct