Published on 06/23/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Diagnostic Performance of Metagenomic Next-Generation Sequencing in Pediatric Patients: A Retrospective Study in a Large Children's Medical Center.
Tao Yue et al. Clinical chemistry 2022 -
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer Ingrid E et al. Developmental medicine and child neurology 2022
Cancer Genomics
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Identification and validation of a novel prognostic signature based on transcription factors in breast cancer by bioinformatics analysis.
Yang Yingmei et al. Gland surgery 2022 11(5) 892-912 -
Rapid genomic profiling of circulating tumor DNA in non-small cell lung cancer using Oncomine Precision Assay with Genexus™ integrated sequencer.
Low Siew-Kee et al. Translational lung cancer research 2022 11(5) 711-721 -
Long-Term Clinical Benefit in EGFR-Mutant Lung Adenocarcinoma With Local Squamous Cell Carcinoma Transformation After EGFR TKI Resistance: A Case Report.
Ye Junru et al. Frontiers in oncology 2022 12883367 -
Up-front cell-free DNA next generation sequencing improves target identification in UK first line advanced non-small cell lung cancer (NSCLC) patients.
Cui Wanyuan et al. European journal of cancer (Oxford, England : 1990) 2022 17144-54
Hereditary Cancer
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Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases.
Kast Karin et al. Breast care (Basel, Switzerland) 2022 17(2) 153-158 -
Consensus Recommendations of the German Consortium for Hereditary Breast and Ovarian Cancer.
Rhiem Kerstin et al. Breast care (Basel, Switzerland) 2022 17(2) 199-207 -
The Additional Diagnostic Benefit of Pancreatic Cancer Molecular Profiling After Germline Testing.
Walker Evan J et al. Pancreas 2022
Chronic Disease
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A causal relationship between childhood obesity and risk of osteoarthritis: results from a two-sample Mendelian randomization analysis.
Cao Ziqin et al. Annals of medicine 2022 54(1) 1636-1645
Heart, Lung, Blood and Sleep Diseases
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Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.
Carruth Eric D et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003645 -
A call to action: MTHFR polymorphisms should not be a part of inherited thrombophilia testing.
Deloughery Thomas G et al. Research and practice in thrombosis and haemostasis 2022 6(4) e12739 -
Hereditary Thrombophilia Testing Among Hospitalized Patients: Is It Warranted?
Abughanimeh Omar K et al. Cureus 2022 14(5) e24855 -
Evinacumab: a new option in the treatment of homozygous familial hypercholesterolemia.
Pirillo Angela et al. Expert opinion on biological therapy 2022 -
Introducing genetic testing with case finding for familial hypercholesterolaemia in primary care: qualitative study of patient and health professional experience.
Silva Luisa et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2022
Newborn Screening
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Improving Harmonization and Standardization of Expanded Newborn Screening Results by Optimization of the Legacy Flow Injection Analysis Tandem Mass Spectrometry Methods and Application of a Standardized Calibration Approach.
Carling Rachel S et al. Clinical chemistry 2022 -
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm Kevin et al. Frontiers in genetics 2022 13859837 -
The cost-effectiveness of newborn screening for spinal muscular atrophy.
Landfeldt Erik et al. Developmental medicine and child neurology 2022