Published on 12/02/2021
Human Genomics across the Lifespan
Birth Defects and Child Health
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Cystinuria: an update on pathophysiology, genetics, and clinical management.
D'Ambrosio Viola et al. Pediatric nephrology (Berlin, Germany) 2021 -
Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients.
Clerc Alice et al. Journal of clinical medicine 2021 10(22) -
Experiences With Genetic Counseling, Testing, and Diagnosis Among Adolescents With a Genetic Condition: A Scoping Review.
Wainstein Tasha et al. JAMA pediatrics 2021 -
International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia.
Savarirayan Ravi et al. Nature reviews. Endocrinology 2021 -
Clinical and genetic analysis of children with hearing loss and bilateral enlarged vestibular aqueducts.
Nakano Atsuko et al. International journal of pediatric otorhinolaryngology 2021 110975 -
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata Valentina et al. Genes 2021 12(11) -
Gene Therapies for Monogenic Autism Spectrum Disorders.
Weuring Wout et al. Genes 2021 12(11)
Cancer Genomics
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Next generation diagnostic algorithm in non-small cell lung cancer predictive molecular pathology: The KWAY Italian multicenter cost evaluation study.
Pisapia Pasquale et al. Critical reviews in oncology/hematology 2021 103525 -
Construction and validation of a novel aging-related gene signature and prognostic nomogram for predicting the overall survival in ovarian cancer.
Liu Lixiao et al. Cancer medicine 2021 -
Considerations on the identification and management of metastatic prostate cancer patients with DNA repair gene alterations in the Canadian context.
Kolinsky Michael P et al. Canadian Urological Association journal = Journal de l'Association des urologues du Canada 2021 -
Next-Generation Sequencing Targeted Panel in Routine Care for Metastatic Colon Cancers.
Bayle Arnaud et al. Cancers 2021 13(22) -
Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.
Terai Mizue et al. Cancers 2021 13(22) -
Community oncologists' perceptions and utilization of large-panel genomic tumor testing.
Anderson Eric C et al. BMC cancer 2021 21(1) 1273 -
Fine-needle Aspiration Washout Precipitation Specimens: An Acceptable Supplement to Genetic Mutation Detection of Thyroid Nodules.
Cui Yongmei et al. Technology in cancer research & treatment 2021 2015330338211057982 -
What Do We Have to Know about PD-L1 Expression in Prostate Cancer? A Systematic Literature Review. Part 5: Epigenetic Regulation of PD-L1.
Palicelli Andrea et al. International journal of molecular sciences 2021 22(22) -
Identification of NSP3 (SH2D3C) as a Prognostic Biomarker of Tumor Progression and Immune Evasion for Lung Cancer and Evaluation of Organosulfur Compounds from Allium sativum L. as Therapeutic Candidates.
Yeh Yuan-Chieh et al. Biomedicines 2021 9(11) -
First Nationwide Molecular Screening Program in Spain for Patients With Advanced Breast Cancer: Results From the AGATA SOLTI-1301 Study.
Pernas Sonia et al. Frontiers in oncology 2021 11744112 -
Transcript-targeted analysis reveals isoform alterations and double-hop fusions in breast cancer.
Namba Shinichi et al. Communications biology 2021 4(1) 1320
Hereditary Cancer
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Variants of uncertain significance (VUS) in cancer predisposing genes: What are we learning from multigene panels?
Lucci-Cordisco Emanuela et al. European journal of medical genetics 2021 104400 -
A Polygenic Risk Score Predicts Incident Prostate Cancer Risk in Older Men but Does Not Select for Clinically Significant Disease.
Bakshi Andrew et al. Cancers 2021 13(22) -
Universal Germline Testing of Unselected Cancer Patients Detects Pathogenic Variants Missed by Standard Guidelines without Increasing Healthcare Costs.
Perkins Adrienne T et al. Cancers 2021 13(22) -
Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.
Frone Megan N et al. JCO precision oncology 2021 5 -
Machine Learning for Recurrence Prediction of Gynecologic Cancers Using Lynch Syndrome-Related Screening Markers.
Kim Byung Wook et al. Cancers 2021 13(22) -
Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.
Kauffman Tia L et al. Journal of personalized medicine 2021 11(11)
Chronic Disease
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Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease.
Cogal Andrea G et al. Kidney international reports 2021 6(11) 2862-2884 -
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.
Jayasinghe Kushani et al. Kidney international reports 2021 6(11) 2850-2861 -
DNA Methylation in Genetic and Sporadic Forms of Neurodegeneration: Lessons from Alzheimer's, Related Tauopathies and Genetic Tauopathies.
Zimmer-Bensch Geraldine et al. Cells 2021 10(11) -
The clinical characteristics and mutation search within monogenic diabetes genes in type 1 diabetes patients with long-term disease and preserved kidney function.
Hohendorff Jerzy et al. Polish archives of internal medicine 2021 -
Next- Generation Sequencing Is An Effective Method For Diagnosing Patients With Different Forms Of Monogenic Diabetes.
Zmyslowska A et al. Diabetes research and clinical practice 2021 109154 -
UMOD Polymorphisms Associated with Kidney Function, Serum Uromodulin and Risk of Mortality among Patients with Chronic Kidney Disease, Results from the C-STRIDE Study.
Wang Jinwei et al. Genes 2021 12(11)
Practice
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Influence of genetic counselor medical history on specialty and psychosocial practice in North America.
Amos Kaitlyn et al. Journal of genetic counseling 2021 -
Genetic therapies for neurological disorders.
FitzPatrick Laura et al. Human genetics 2021
Heart, Lung, Blood and Sleep Diseases
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HFE hemochromatosis: an overview about therapeutic recommendations.
Cancado Rodolfo D et al. Hematology, transfusion and cell therapy 2021 -
Acceptable, hopeful, and useful: development and mixed-method evaluation of an educational tool about reproductive options for people with sickle cell disease or trait.
Early Macy L et al. Journal of assisted reproduction and genetics 2021 -
Intravenous or oral antibiotic treatment in adults and children with cystic fibrosis and Pseudomonas aeruginosa infection: the TORPEDO-CF RCT.
Langton Hewer Simon C et al. Health technology assessment (Winchester, England) 2021 25(65) 1-128 -
The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.
Thajer Alexandra et al. Children (Basel, Switzerland) 2021 8(11) -
Association of a Total Cholesterol Polygenic Score with Cholesterol Levels and Pathological Biomarkers across the Alzheimer's Disease Spectrum.
Nilsson Nathalie I V et al. Genes 2021 12(11)
Newborn Screening
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Maximizing Benefits and Minimizing Harms: Diagnostic Uncertainty Arising From Newborn Screening.
Chakraborty Pranesh et al. Pediatrics 2021 -
Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.
Gonska Tanja et al. Pediatrics 2021
Pharmacogenomics
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Pharmacogenomic analysis of a genetically distinct Indigenous population.
Jaya Shankar Arvind et al. The pharmacogenomics journal 2021 -
A Comprehensive Review of HLA and Severe Cutaneous Adverse Drug Reactions: Implication for Clinical Pharmacogenomics and Precision Medicine.
Kloypan Chiraphat et al. Pharmaceuticals (Basel, Switzerland) 2021 14(11) -
Unmanaged Pharmacogenomic and Drug Interaction Risk Associations with Hospital Length of Stay among Medicare Advantage Members with COVID-19: A Retrospective Cohort Study.
Ashcraft Kristine et al. Journal of personalized medicine 2021 11(11) -
Pharmacogenetics to Avoid Adverse Reactions in Cardiology: Ready for Implementation?
García-González Xandra et al. Journal of personalized medicine 2021 11(11) -
A Cost-Consequence Analysis of Preemptive SLCO1B1 Testing for Statin Myopathy Risk Compared to Usual Care.
Brunette Charles A et al. Journal of personalized medicine 2021 11(11) -
Pharmacogenomic Testing and Patient Perception Inform Pain Pharmacotherapy.
Loh Feng-Hua et al. Journal of personalized medicine 2021 11(11) -
Impact of Updating Pharmacogenetic Results: Lessons Learned from the PREDICT Program.
Liu Michelle et al. Journal of personalized medicine 2021 11(11) -
PharmVIP: A Web-Based Tool for Pharmacogenomic Variant Analysis and Interpretation.
Piriyapongsa Jittima et al. Journal of personalized medicine 2021 11(11) -
Race and Drug Toxicity: A Study of Three Cardiovascular Drugs with Strong Pharmacogenetic Recommendations.
O'Brien Travis J et al. Journal of personalized medicine 2021 11(11) -
The Influence of CYP2D6 and CYP2C19 Genetic Variation on Diabetes Mellitus Risk in People Taking Antidepressants and Antipsychotics.
Austin-Zimmerman Isabelle et al. Genes 2021 12(11)
Reproductive Health
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B-cell lymphoma 6 expression is not associated with live birth in a normal responder in vitro fertilization population.
Klimczak Amber M et al. Fertility and sterility 2021 -
The impact of preimplantation genetic testing for aneuploidy on prenatal screening.
Gulersen Moti et al. Journal of perinatal medicine 2021