Published on 08/05/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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The Unrecognized Mortality Burden of Genetic Disorders in Infancy.
Wojcik Monica H et al. American journal of public health 2021 111(S2) S156-S162 -
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter Miriam S et al. Circulation. Genomic and precision medicine 2021 -
Association between genes regulating neural pathways for quantitative traits of speech and language disorders.
Benchek Penelope et al. NPJ genomic medicine 2021 6(1) 64 -
MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB.
Guevara-Fujita María Luisa et al. Molecular genetics & genomic medicine 2021 e1759 -
Diagnostic difficulties and possibilities of NF1-like syndromes in childhood.
Pinti Eva et al. BMC pediatrics 2021 21(1) 331 -
Family as a Context for Child Development: Mothers with the FMR1 Premutation and Their Children with Fragile X Syndrome.
Bangert Katherine et al. Seminars in speech and language 2021 42(4) 277-286 -
Diagnostic yield of chromosomal microarray and trio whole exome sequencing in cryptogenic cerebral palsy.
Yechieli Michal et al. Journal of medical genetics 2021
Cancer Genomics
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Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.
Pipitprapat Weenita et al. Annals of medicine 2021 53(1) 1243-1255 -
Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer.
Chao Jeffrey Yung-Chuan et al. Computational and structural biotechnology journal 2021 193922-3929 -
Microsatellite Instability and Colorectal Cancer, Immunohistochemical and Molecular Evaluation by Using DNA Sequencing: A Single Center Experience.
Geramizadeh Bita et al. Iranian journal of pathology 2021 16(3) 325-331 -
Evaluation of multiple transcriptomic gene risk signatures in male breast cancer.
Bayani Jane et al. NPJ breast cancer 2021 7(1) 98 -
Prognostic impact of pre-transplant chromosomal aberrations in peripheral blood of patients undergoing unrelated donor hematopoietic cell transplant for acute myeloid leukemia.
Wang Youjin et al. Scientific reports 2021 11(1) 15004 -
Association of emergence of new mutations in circulating tumuor DNA during chemotherapy with clinical outcome in metastatic colorectal cancer.
Jia Ning et al. BMC cancer 2021 21(1) 845 -
Elevated Ras related GTP binding B (RRAGB) expression predicts poor overall survival and constructs a prognostic nomogram for colon adenocarcinoma.
Xiao Jianjia et al. Bioengineered 2021 12(1) 4620-4632
Hereditary Cancer
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Genetic errors of immunity distinguish pediatric non-malignant lymphoproliferative disorders.
Forbes Lisa R et al. The Journal of allergy and clinical immunology 2021 -
Breast cancer incidence and early diagnosis in a family history risk and prevention clinic: 33-year experience in 14,311 women.
Evans D Gareth et al. Breast cancer research and treatment 2021 -
Preliminary results of targeted sequencing of BRCA1 and BRCA2 in a cohort of breast cancer families: New insight into pathogenic variants in patients and at‑risk relatives.
Saied Marwa H et al. Molecular medicine reports 2021 24(3) -
Germ-line mutations in WDR77 predispose to familial papillary thyroid cancer.
Zhao Yanyang et al. Proceedings of the National Academy of Sciences of the United States of America 2021 118(31) -
Oncologists' Perceptions of Tumor Genomic Profiling and the Communication of Test Results and Risks.
Hall Michael J et al. Public health genomics 2021 1-6 -
Retinoblastoma genetics screening and clinical management.
Gupta Himika et al. BMC medical genomics 2021 14(1) 188 -
Cancer Predisposition Sequencing Reporter (CPSR): a flexible variant report engine for high-throughput germline screening in cancer.
Nakken Sigve et al. International journal of cancer 2021 -
Comprehensive Breast Cancer Risk Assessment for CHEK2 and ATM Pathogenic Variant Carriers Incorporating a Polygenic Risk Score and the Tyrer-Cuzick Model.
Gallagher Shannon et al. JCO precision oncology 2021 5 -
Early detection of duodenal cancer by upper GI-endoscopy in Lynch syndrome.
Vangala Deepak B et al. International journal of cancer 2021
Chronic Disease
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TCF7L2 Genetic Variants Do Not Influence Insulin Sensitivity or Secretion Indices in Autoantibody-Positive Individuals at Risk for Type 1 Diabetes.
Redondo Maria J et al. Diabetes care 2021 -
Profiling non-coding RNA levels with clinical classifiers in pediatric Crohn's disease.
Pelia Ranjit et al. BMC medical genomics 2021 14(1) 194
Ethics/Policy/Law
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To disclose, or not to disclose? Perspectives of clinical genomics professionals toward returning incidental findings from genomic research.
AlFayyad Isamme et al. BMC medical ethics 2021 22(1) 101 -
Variability of Pharmacogenomics Information in Drug Labels Approved by Different Agencies and Its Ethical Implications.
Güner Müberra Devrim et al. Current drug safety 2021
Practice
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Epigenetics and postsurgical pain: A scoping review.
López-Muñoz Eunice et al. Pain medicine (Malden, Mass.) 2021 -
Genetic counseling and screening of consanguineous couples and their offspring practice resource: Focused Revision.
Bennett Robin L et al. Journal of genetic counseling 2021 -
Leveraging Health Information Technology to Collect Family Cancer History: A Systematic Review and Meta-Analysis.
Li Xuan et al. JCO clinical cancer informatics 2021 5775-788 -
Implementing Primary Care Mediated Population Genetic Screening Within an Integrated Health System.
David Sean P et al. Journal of the American Board of Family Medicine : JABFM 2021 34(4) 861-865 -
The Impact of Communicating Uncertainty on Public Responses to Precision Medicine Research.
Ratcliff Chelsea L et al. Annals of behavioral medicine : a publication of the Society of Behavioral Medicine 2021
Heart, Lung, Blood and Sleep Diseases
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Sudden cardiac death in childhood hypertrophic cardiomyopathy is best predicted by a combination of ECG Risk-score and HCMRisk-Kids score.
Östman-Smith Ingegerd et al. Acta paediatrica (Oslo, Norway : 1992) 2021 -
Return-to-Play for Athletes With Long QT Syndrome or Genetic Heart Diseases Predisposing to Sudden Death.
Tobert Kathryn E et al. Journal of the American College of Cardiology 2021 -
Thirty percent of children and young adults with familial hypercholesterolemia treated with statins have adherence issues.
Langslet Gisle et al. American journal of preventive cardiology 2021 6100180 -
A proof-of-concept study of cascade screening for Familial Hypercholesterolemia in the US, adapted from the Dutch model.
McGowan Mary P et al. American journal of preventive cardiology 2021 6100170 -
Familial hypercholesterolemia in Southeast and East Asia.
Jackson Candace L et al. American journal of preventive cardiology 2021 6100157 -
Synopsis of an integrated guidance for enhancing the care of familial hypercholesterolaemia: an Australian perspective.
Watts Gerald F et al. American journal of preventive cardiology 2021 6100151 -
Considerations for Cardiovascular Genetic and Genomic Research With Marginalized Racial and Ethnic Groups and Indigenous Peoples: A Scientific Statement From the American Heart Association.
Mudd-Martin Gia et al. Circulation. Genomic and precision medicine 2021 HCG0000000000000084 -
Patient preferences and priorities for haemophilia gene therapy in the US: A discrete choice experiment.
Witkop Michelle et al. Haemophilia : the official journal of the World Federation of Hemophilia 2021
Newborn Screening
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Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression.
Schwartz Talia S et al. Journal of genetic counseling 2021 -
Newborn Screening-What Parents Need to Know About Their Infant's First Tests.
Garganta Cheryl L et al. JAMA pediatrics 2021 -
Newborn screening for spinal muscular atrophy with disease-modifying therapies: a cost-effectiveness analysis.
Shih Sophy Tf et al. Journal of neurology, neurosurgery, and psychiatry 2021 -
Maximising returns: combining newborn screening with gene therapy for spinal muscular atrophy.
Gillingwater Thomas H et al. Journal of neurology, neurosurgery, and psychiatry 2021
Pharmacogenomics
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A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Cochran Meagan et al. Molecular genetics & genomic medicine 2021 e1766 -
Development of a laboratory-based pharmacogenomics independent study and advanced pharmacy practice experience: Connecting basic science to clinical application.
Bailey Shannon L et al. Currents in pharmacy teaching & learning 2021 13(9) 1236-1243 -
Effect of Pharmacogenetic-Based Decision Support Tools in Improving Depression Outcomes: A Systematic Review.
Aboelbaha Shimaa et al. Neuropsychiatric disease and treatment 2021 172397-2419
Reproductive Health
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Cytogenetic Screening in Couples with Recurrent Pregnancy Loss: A Single-Center Study and Review of Literature.
Frikha Rim et al. Journal of human reproductive sciences 2021 14(2) 191-195 -
ESHRE PGT Consortium data collection XIX-XX: PGT analyses from 2016 to 2017.
van Montfoort A et al. Human reproduction open 2021 2021(3) hoab024