Published on 04/22/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Sun Yan et al. BMC medical genomics 2021 14(1) 102 -
A NGS-based analysis on a large cohort of ataxic patients refines the clinical spectrum associated with SCA21.
Riso V et al. European journal of neurology 2021
Cancer Genomics
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Comprehensive tumor molecular profile analysis in clinical practice.
Özdogan Mustafa et al. BMC medical genomics 2021 14(1) 105 -
Micro-costing diagnostics in oncology: from single-gene testing to whole genome sequencing.
Pasmans Clémence Tb et al. Expert review of pharmacoeconomics & outcomes research 2021 -
Tumor immune landscape of paediatric high-grade gliomas.
Ross James L et al. Brain : a journal of neurology 2021 -
Training Institute for Dissemination and Implementation Research in Cancer (TIDIRC) OpenAccess
National Cancer Institute, Division of Cancer Control & Population Sciences -
Relationship of HER2 alteration and MSI status in colorectal adenocarcinoma.
Qiu Miao-Zhen et al. The oncologist 2021
Hereditary Cancer
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Gene-Specific Variation in Colorectal Cancer Surveillance Strategies for Lynch Syndrome.
Kastrinos Fay et al. Gastroenterology 2021 -
Effectiveness of patient-targeted interventions to inform decision making and improve uptake of colorectal cancer genetic evaluation for at-risk individuals: A systematic review.
Li Huanhuan et al. International journal of nursing studies 2021 118103928 -
Lynch syndrome associated endometrial carcinomas in Western Australia: an analysis of universal screening by mismatch repair protein immunohistochemistry.
Gupta Surabhi et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2021 -
Outcomes of large panel genetic evaluation of breast cancer patients in a community-based cancer institute.
Bagwell Alexis K et al. American journal of surgery 2021 -
Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort.
Jantzen Rodolphe et al. BMJ open 2021 11(4) e045078 -
Germline cancer susceptibility gene testing in unselected patients with colorectal adenocarcinoma: A multi-center prospective study.
Uson Junior P L S et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2021 -
"I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.
Reyes Kathryn G et al. Familial cancer 2021
Chronic Disease
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Diet Modulates the Effects of Genetic Variants on the Vitamin D Metabolic Pathway and Bone Mineral Density in Mexican Postmenopausal Women.
Rivera-Paredez Berenice et al. The Journal of nutrition 2021 -
Medical records-based chronic kidney disease phenotype for clinical care and "big data" observational and genetic studies.
Shang Ning et al. NPJ digital medicine 2021 4(1) 70 -
Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.
Breidbart Emily et al. Journal of pediatric endocrinology & metabolism : JPEM 2021
Ethics/Policy/Law
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Genetic information, insurance and a pluralistic approach to justice.
Pugh Jonathan et al. Journal of medical ethics 2021
Practice
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Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield.
van der Sanden Bart P G H et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 -
A content analysis of direct-to-consumer DNA testing on TikTok.
Basch Corey H et al. Journal of community genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Genetic basis of hypercholesterolemia in adults.
Saadatagah Seyedmohammad et al. NPJ genomic medicine 2021 6(1) 28 -
Translating Cardiovascular Genomics to Clinical Practice.
Chen Y Eugene et al. Cardiovascular drugs and therapy 2021 -
Genome-wide association for heart failure: from discovery to clinical use.
Fullenkamp Dominic E et al. European heart journal 2021 -
Developing a Decision Aid to Facilitate Informed Decision Making About Invasive Mechanical Ventilation and Lung Transplantation Among Adults With Cystic Fibrosis: Usability Testing.
Dauber-Decker Katherine L et al. JMIR human factors 2021 8(2) e21270 -
Genetic therapies for the first molecular disease.
Doerfler Phillip A et al. The Journal of clinical investigation 2021 131(8)
Newborn Screening
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"We needed this": perspectives of parents and healthcare professionals involved in a pilot newborn screening program for spinal muscular atrophy
Kariyawasam Didu S T et al. EClinicalMedicine 2021 33100742
Pharmacogenomics
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Implementation of Pharmacogenomic Information on Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
Tsukagoshi Eri et al. Frontiers in medicine 2021 8644154 -
Can Cost-effectiveness Analysis Inform Genotype-Guided Aspirin Use for Primary Colorectal Cancer Prevention?
Biltaji Eman et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2021 -
Feasibility of preemptive pharmacogenetic testing in colorectal cancer patients within a community oncology setting.
Luczak Tiana S et al. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 2021 10781552211005529 -
Single Nucleotide Polymorphisms (SNPs) in PRKG1 & SPATA13-AS1 are associated with bronchodilator response: a pilot study during acute asthma exacerbations in African American children.
Fishe Jennifer N et al. Pharmacogenetics and genomics 2021
Reproductive Health
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The use of expanded carrier screening of gamete donors.
Payne Molly R et al. Human reproduction (Oxford, England) 2021 -
Obesity and no call results: optimal timing of cell-free DNA testing and redraw.
Hopkins Maeve K et al. American journal of obstetrics and gynecology 2021 -
The Emergence and Global Spread of Noninvasive Prenatal Testing.
Ravitsky Vardit et al. Annual review of genomics and human genetics 2021 -
Prenatal chromosome microarray: 'The UK experience'. A survey of reporting practices in UK genetic services (2012-2019).
Patterson Jenny et al. Prenatal diagnosis 2021 -
Genetic testing for men with infertility: techniques and indications.
Pelzman Daniel L et al. Translational andrology and urology 2021 10(3) 1354-1364 -
The true incidence of chromosomal mosaicism after preimplantation genetic testing is much lower than that indicated by trophectoderm biopsy.
Wu L et al. Human reproduction (Oxford, England) 2021 -
Pre-Implementation Assessment of the Acceptability of Using Circulating microRNAs for Follow-Up of Malignant Germ-Cell Tumors.
Fern Lorna A et al. Clinical genitourinary cancer 2021