Published on 04/08/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Spinal Muscular Atrophy: Inheritance, Screening, and Counseling for the Obstetric Provider.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2021 76(3) 166-169 -
Higher Rates of Bleeding and Use of Treatment Products Found Among Young Boys Compared to Girls with von Willebrand Disease
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Data Brief: Medicaid Coverage Patterns for People with Sickle Cell Disease in California and Georgia, 2014-2016
Cancer Genomics
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Differential methylation and expression patterns of microRNAs in relation to breast cancer subtypes among American women of African and European ancestry.
Gong Zhihong et al. PloS one 2021 16(3) e0249229 -
Barriers to Prescribing Targeted Therapies for Patients With NSCLC With Highly Actionable Gene Variants in the Veterans Affairs National Precision Oncology Program.
Vashistha Vishal et al. JCO oncology practice 2021 OP2000703
Hereditary Cancer
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Tumor surveillance for children and adolescents with cancer predisposition syndromes: The psychosocial impact reported by adolescents and caregivers.
van Engelen Kalene et al. Pediatric blood & cancer 2021 e29021 -
Familial burden and other clinical factors associated with various types of cancer in individuals with Lynch syndrome.
Biller Leah H et al. Gastroenterology 2021 -
Evaluation of a Multiethnic Polygenic Risk Score Model for Prostate Cancer.
Plym Anna et al. Journal of the National Cancer Institute 2021 -
Inherited predisposition to pancreatic cancer.
Hilfrank Kimberly J et al. Seminars in oncology 2021
Chronic Disease
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Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease.
Pavarini Gabriela et al. European journal of medical genetics 2021 104180 -
Genetic testing in dementia-A medical genetics perspective.
Huq Aamira J et al. International journal of geriatric psychiatry 2021 -
A Genetic Risk Score Improves the Prediction of Type 2 Diabetes Mellitus in Mexican Youths but Has Lower Predictive Utility Compared With Non-Genetic Factors.
Miranda-Lora América Liliana et al. Frontiers in endocrinology 2021 12647864
Ethics/Policy/Law
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Mainstreaming informed consent for genomic sequencing: A call for action.
Bunnik Eline M et al. European journal of cancer (Oxford, England : 1990) 2021 148405-410 -
Orchestrating privacy-protected big data analyses of data from different resources with R and DataSHIELD.
Marcon Yannick et al. PLoS computational biology 2021 17(3) e1008880
Practice
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Telomere length and socioeconomic status at neighborhood and individual levels among 80,000 adults in the Genetic Epidemiology Research on Adult Health and Aging cohort.
Alexeeff Stacey E et al. Environmental epidemiology (Philadelphia, Pa.) 2019 3(3) e049 -
Establishing the value of genomics in medicine: the IGNITE Pragmatic Trials Network.
Ginsburg Geoffrey S et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
Precision Population Medicine in Primary Care: The Sanford Chip Experience.
Christensen Kurt D et al. Frontiers in genetics 2021 12626845 -
Utility and Diversity: Challenges for Genomic Medicine.
Burke Wylie et al. Annual review of genomics and human genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Global approaches to cardiogenetic evaluation after sudden cardiac death in the young: A survey among healthcare professionals.
van den Heuvel Lieke M et al. Heart rhythm 2021 -
Impact of diabetes on coronary severity and cardiovascular outcomes in patients with heterozygous familial hypercholesterolaemia.
Liu Ming-Ming et al. European journal of preventive cardiology 2021
Pharmacogenomics
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Biochip-based approach for comprehensive pharmacogenetic testing.
Ikonnikova Anna Yu et al. Drug metabolism and personalized therapy 2021
Reproductive Health
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Non-invasive prenatal screening for fetal sex chromosome aneuploidies.
Deng Cechuan et al. Expert review of molecular diagnostics 2021 -
Performance of cell-free DNA sequencing-based non-invasive prenatal testing: experience on 36,456 singleton and multiple pregnancies.
La Verde Marco et al. BMC medical genomics 2021 14(1) 93 -
Non-Invasive Prenatal Fetal Blood Group Genotype and Its Application in the Management of Hemolytic Disease of Fetus and Newborn: Systematic Review and Meta-Analysis.
Alshehri Abdulrahman Ali et al. Transfusion medicine reviews 2021