Published on 10/13/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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A first-in-human phase I/IIa gene transfer clinical trial for Duchenne muscular dystrophy using rAAVrh74.MCK.GALGT2.
Flanigan Kevin M et al. Molecular therapy. Methods & clinical development 2022 2747-60 -
Copy-number variation in congenital heart disease.
Ehrlich Laurent et al. Current opinion in genetics & development 2022 77101986 -
Organic acidemias in the neonatal period: 30 years of experience in a referral center for inborn errors of metabolism.
Unsal Yagmur et al. Journal of pediatric endocrinology & metabolism : JPEM 2022
Cancer Genomics
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A large-scale prospective concordance study of plasma- and tissue-based next-generation targeted sequencing for advanced non-small cell lung cancer (LC-SCRUM-Liquid).
Sugimoto Akira et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
How to read a next-generation sequencing report-what oncologists need to know.
Schmid S et al. ESMO open 2022 7(5) 100570 -
Genomic alterations predictive of poor clinical outcomes in pan-cancer.
Seldon Crystal S et al. Oncotarget 2022 131069-1077 -
Access and quality of biomarker testing for precision oncology in Europe.
Normanno Nicola et al. European journal of cancer (Oxford, England : 1990) 2022 17670-77 -
Improving Time to Molecular Testing Results in Patients With Newly Diagnosed, Metastatic Non-Small-Cell Lung Cancer.
Ossowski Stephanie et al. JCO oncology practice 2022 OP2200260
Hereditary Cancer
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BRCA1/2 Variants Identified Through Tumor Genomic Profiling: Assessing Genetic Counseling Outcomes.
Harriman Jamie W et al. JCO precision oncology 2022 6e2100375 -
Ovarian cancer risk management in BRCA-mutation carriers: A comparison of six international and national guidelines.
Matan Liat S et al. European journal of obstetrics, gynecology, and reproductive biology 2022 278166-171 -
Initial outcomes and insights from a novel high-risk prostate cancer screening clinic.
Harper Jonathan B et al. The Prostate 2022 -
A bibliometric analysis of the top 100 most cited papers and research trends in breast cancer related BRCA1 and BRCA2 genes.
Alkhayyat Shadi et al. Medicine 2022 101(38) e30576 -
Provider discussion of genetic counseling among high-risk Spanish-preferring Latina breast cancer survivors.
Conley Claire C et al. Translational behavioral medicine 2022 12(9) 900-908
Chronic Disease
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The impact of family history of type 2 diabetes on the clinical heterogeneity in idiopathic type 1 diabetes.
Chen Yan et al. Diabetes, obesity & metabolism 2022 -
Diabetes-related antibody-testing is a valuable screening tool for identifying monogenic diabetes - a survey from the worldwide SWEET registry.
Limbert Catarina et al. Diabetes research and clinical practice 2022 110110 -
Multiple gene variants linked to Alzheimer's-type clinical dementia via GWAS are also associated with non-Alzheimer's neuropathologic entities.
Katsumata Yuriko et al. Neurobiology of disease 2022 105880
Practice
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Mapping continuous learning using social network research: a social network study of Australian Genomics as a Learning Health System.
Ellis Louise A et al. BMJ open 2022 12(10) e064663 -
Navigating the uncertainties of next-generation sequencing in the genetics clinic.
Kuiper Janneke M L et al. Sociology of health & illness 2022 -
Genome Reporting for Healthy Populations-Pipeline for Genomic Screening from the GENCOV COVID-19 Study.
Frangione Erika et al. Current protocols 2022 2(10) e534
Heart, Lung, Blood and Sleep Diseases
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Challenges and knowledge gaps facing hemophilia carriers today: Perspectives from patients and health care providers.
Chaigneau Megan et al. Research and practice in thrombosis and haemostasis 2022 6(6) e12783 -
Surveillance for Sickle Cell Disease - Sickle Cell Data Collection Program, Two States, 2004-2018.
Snyder Angela B et al. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2022 71(9) 1-18 -
Evaluation of a novel rapid genomic test including polygenic risk scores for the diagnosis and management of familial hypercholesterolaemia.
Neves Emma et al. Global cardiology science & practice 2022 2021(4) e202131 -
C282Y/H63D Compound Heterozygosity Is a Low Penetrance Genotype for Iron Overload-related Disease.
Hasan S M Mahmudul et al. Journal of the Canadian Association of Gastroenterology 2022 5(5) 240-247 -
HTAADVar: Aggregation and fully automated clinical interpretation of genetic variants in heritable thoracic aortic aneurysm and dissection.
Zhou Wei-Zhen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US.
Saadatagah Seyedmohammad et al. American journal of preventive cardiology 2022 12100393 -
Genetic screening of relatives of decedents experiencing sudden unexpected death: medical examiner's office referrals to a multi-disciplinary cardiogenetics program.
Siskind Tamar et al. Journal of community genetics 2022
Newborn Screening
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Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Chen Min et al. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022 51(3) 290-297
Reproductive Health
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Preimplantation Genetic Testing for Aneuploidy With Comprehensive Chromosome Screening in Patients Undergoing In Vitro Fertilization: A Systematic Review and Meta-analysis.
Cheng Xin et al. Obstetrics and gynecology 2022 -
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome and spinal muscular atrophy: patterns of community and healthcare provider participation in a Victorian screening program.
Leibowitz Ruth et al. Australian journal of primary health 2022