Published on 03/18/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Parental monitoring for type 1 diabetes in genetically at-risk young children: The TEDDY study.
Smith Laura B et al. Pediatric diabetes 2021
Cancer Genomics
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Practical instructions for testing and targeted therapy in adult patients with solid tumours with NTRK gene fusion in common clinical practice.
Büchler Tomáš et al. Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti 2020 33(6) 414-419 -
An Apoptotic Gene Signature for the Prognosis of Hepatocellular Carcinoma.
Chen Kunlun et al. OncoTargets and therapy 2021 141589-1604 -
Development of a Gene-Based Prediction Model for Recurrence of Colorectal Cancer Using an Ensemble Learning Algorithm.
Chan Han-Ching et al. Frontiers in oncology 2021 11631056 -
Clinicopathologic and Genomic Characterization of PD-L1 Positive Urothelial Carcinomas.
Huang Richard S P et al. The oncologist 2021 -
Improved Variant Detection in Clinical Myeloid NGS Testing by Supplementing a Commercial Myeloid NGS Assay with Custom or Extended Data Filtering and Accessory Fragment Analysis.
Schejbel Lone et al. Molecular diagnosis & therapy 2021 -
Genome Sequencing as an Alternative to Cytogenetic Analysis in Myeloid Cancers.
Duncavage Eric J et al. The New England journal of medicine 2021 384(10) 924-935
Hereditary Cancer
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Influential Factors on Risk-reduction Mastectomy in a High-risk Breast Cancer Population With Genetic Predispositions.
Wei Grace et al. Clinical breast cancer 2021 -
Lynch syndrome for the gynaecologist.
Ryan Neil Aj et al. The obstetrician & gynaecologist : the journal for continuing professional development from the Royal College of Obstetricians & Gynaecologists 2021 23(1) 9-20 -
Modern day screening for Lynch syndrome in endometrial cancer: the KEM experience.
Pauly Nina et al. Archives of gynecology and obstetrics 2021 -
Prevalence and endoscopic treatment outcomes of upper gastrointestinal neoplasms in familial adenomatous polyposis.
Noh Jin Hee et al. Surgical endoscopy 2021 -
Communicating polygenic risk scores in the familial breast cancer clinic.
Das Gupta Kuheli et al. Patient education and counseling 2021 -
Prevalence and Prognosis of Lynch Syndrome and Sporadic Mismatch Repair Deficiency in Endometrial Cancer.
Post Cathalijne C B et al. Journal of the National Cancer Institute 2021 -
Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.
Postema Floor A M et al. Familial cancer 2021
Chronic Disease
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Screening for intracranial aneurysmsin individuals with a positive first-degree family history: a systematic review.
Van Hoe Willem et al. World neurosurgery 2021 -
The Role of Genetic Testing for Parkinson's Disease.
Cook Lola et al. Current neurology and neuroscience reports 2021 21(4) 17
Ethics/Policy/Law
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Ethical issues in genomics research on neurodevelopmental disorders: a critical interpretive review.
Mezinska S et al. Human genomics 2021 15(1) 16 -
Challenges and Legal Gaps of Genetic Profiling in the Era of Big Data.
Sariyar Murat et al. Frontiers in big data 2019 240
Practice
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Characterization of genetic counselor practices in inpatient care settings.
Magness Emily et al. Journal of genetic counseling 2021 -
An electronic health record (EHR) log analysis shows limited clinician engagement with unsolicited genetic test results.
Nestor Jordan G et al. JAMIA open 2021 4(1) ooab014 -
Animation or leaflet: Does it make a difference when educating young people about genome sequencing?
Hammond Jennifer et al. Patient education and counseling 2021
Heart, Lung, Blood and Sleep Diseases
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Allele-Specific Recombinase Polymerase Amplification to Detect Sickle Cell Disease in Low-Resource Settings.
Natoli Mary E et al. Analytical chemistry 2021 -
Hyperlipidemia: effective disease management with a focus on PCSK9 inhibitors.
Shaw Paul B et al. The American journal of managed care 2021 27(4 Suppl) S63-S69
Newborn Screening
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Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83 -
Assessment of hearing screening programmes across 47 countries or regions II: coverage, referral, follow-up and detection rates from newborn hearing screening.
Mackey Allison R et al. International journal of audiology 2021 1-10
Pharmacogenomics
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Drug Response Pharmacogenetics for 200,000 UK Biobank Participants.
McInnes Gregory et al. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 2021 26184-195 -
High Genetic Addiction Risk Score (GARS) in Chronically Prescribed Severe Chronic Opioid Probands Attending Multi-pain Clinics: an Open Clinical Pilot Trial.
Moran Mark et al. Molecular neurobiology 2021
Reproductive Health
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Not all low fetal fraction cell-free DNA screening failures are at increased risk for aneuploidy.
Caldwell Samantha et al. Prenatal diagnosis 2021 -
Comprehensive assessment of a clinic's experience of preimplantation genetic testing by a cumulative rate.
Li Xinyuan et al. Taiwanese journal of obstetrics & gynecology 2021 60(2) 225-231 -
Reproductive outcomes after preimplantation genetic testing in mosaic Turner syndrome: a retrospective cohort study of 100 cycles.
Liao Jingnan et al. Journal of assisted reproduction and genetics 2021 -
Cell-free DNA analysis of maternal blood in prenatal screening for chromosomal microdeletions and microduplications: a systematic review.
Familiari Alessandra et al. Prenatal diagnosis 2021
Eventr
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Survivorship Programs to Support Quality of Life Webinar, March 30
Michigan?s Program for Breast Cancer in Young Women and the Michigan Comprehensive Cancer Control Program with funding support from the Centers for Disease Control and Prevention