Published on 09/30/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
Wheway Gabrielle et al. BMC medical genomics 2021 14(1) 234 -
Review of 37 patients with SOX2 pathogenic variants collected by the Anophthalmia/Microphthalmia Clinical Registry and DNA research study.
Amlie-Wolf Louise et al. American journal of medical genetics. Part A 2021 -
Cost-Effectiveness of a Proteomic Test for Preterm Birth Prediction.
Grabner Michael et al. ClinicoEconomics and outcomes research : CEOR 2021 13809-820
Cancer Genomics
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Clinical utility of genomic signatures in young breast cancer patients: a systematic review.
Villarreal-Garza Cynthia et al. NPJ breast cancer 2021 6(1) 46 -
BESPOKE study protocol: a multicentre, prospective observational study to evaluate the impact of circulating tumour DNA guided therapy on patients with colorectal cancer.
Kasi Pashtoon Murtaza et al. BMJ open 2021 11(9) e047831 -
Validation of a next-generation sequencing assay for the detection of EGFR mutations in cell-free circulating tumor DNA.
Stitz Regina et al. Experimental and molecular pathology 2021 104685 -
The EUS molecular evaluation of pancreatic cancer: A prospective multicenter cohort trial.
Masoumi-Moghaddam Samar et al. Endoscopic ultrasound 2021 -
Adult Acute Myeloid Leukemia with the KMT2A-Mixed Lineage Leukemia T10 Fusion: An Analysis of 10 Cases Showed Common Features and Frequent Mutations in the RAS Signaling Pathway.
Cai Xiaohui et al. Acta haematologica 2021 1-7 -
Impact of Precision Medicine on Clinical Outcomes: A Single-Institution Retrospective Study.
Quinn Ryann et al. Frontiers in oncology 2021 11659113 -
Multiomics analysis identifies key genes and pathways related to N6-methyladenosine RNA modification in ovarian cancer.
Xu Haoya et al. Epigenomics 2021
Hereditary Cancer
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Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.
Flahive Colleen B et al. The Journal of pediatrics 2021 -
Colorectal Cancer Knowledge and Perceptions among Individuals below the Age of 50.
Mueller Nora M et al. Psycho-oncology 2021 -
Knowledge about risk factors for cancer and cancer risk behavior among patients with severe mental illness.
Grassi Luigi et al. Psycho-oncology 2021 -
Outcomes of retesting in patients with previously uninformative cancer genetics evaluations.
Dettwyler Shenin A et al. Familial cancer 2021 -
Oncology clinic-based germline genetic testing for exocrine pancreatic cancer enables timely return of results and unveils low uptake of cascade testing.
Wang Yifan et al. Journal of medical genetics 2021
Practice
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Standardized applications for genetic counseling graduate programs: Opinions of program directors.
Beasley Erin et al. Journal of genetic counseling 2021 -
Decision making about genetic health information among family dyads: A systematic literature review.
Law Wai Ki et al. Health psychology review 2021 1-41 -
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study.
Mighton Chloe et al. Human genetics 2021
Heart, Lung, Blood and Sleep Diseases
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Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada Georgia et al. Human genetics 2021 -
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Schultze-Berndt Alina et al. Frontiers in pediatrics 2021 9722926 -
Human genetics and its impact on cardiovascular disease.
Tada Hayato et al. Journal of cardiology 2021 -
Collaboration between Family Physicians and Specialists in the Diagnosis and Management of Familial Hypercholesterolemia.
Kotani Kazuhiko et al. Journal of lifestyle medicine 2021 11(2) 94-95
Newborn Screening
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Outcomes of early repeat sweat testing in infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome (CRMS)/CF screen-positive, inconclusive diagnosis (CFSPID).
Terlizzi Vito et al. Pediatric pulmonology 2021 -
Immunological Findings and Clinical Outcomes of Infants With Positive Newborn Screening for Severe Combined Immunodeficiency From a Tertiary Care Center in the U.S.
Mantravadi Vasudha et al. Frontiers in immunology 2021 12734096 -
Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency.
Blom Maartje et al. The Journal of allergy and clinical immunology 2021
Pharmacogenomics
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Psychotropic prescribing rates and pharmacogenomic testing implications for autism in the Canadian primary care sentinel surveillance network.
Ahmed Zeeshan et al. Pharmacogenetics and genomics 2021 -
Multisite evaluation of institutional processes and implementation determinants for pharmacogenetic testing to guide antidepressant therapy.
Tuteja Sony et al. Clinical and translational science 2021
Reproductive Health
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Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study.
Yeates Laura et al. European journal of human genetics : EJHG 2021 -
Current updates and future perspectives in the evaluation of azoospermia: A systematic review.
Punjani Nahid et al. Arab journal of urology 2021 19(3) 206-214 -
Polygenic risk scoring of human embryos: a qualitative study of media coverage.
Pagnaer Tiny et al. BMC medical ethics 2021 22(1) 125