Published on 07/27/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Health care concerns in parents of children with different genetic developmental and epileptic encephalopathies: A qualitative study.
Domingo Palacios-Ceña et al. Dev Med Child Neurol 2023 -
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing.
Hadley Stevens Smith et al. Pediatrics 2023 -
Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.
Nobuko Yamamoto et al. J Pediatr 2023 113620 -
Using an experiment among clinical experts to determine the cost and clinical impact of rapid whole exome sequencing in acute pediatric settings.
Nattiya Kapol et al. Front Pediatr 2023 111204853 -
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Shyam K Akula et al. JAMA Neurol 2023
Cancer Genomics
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Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.
Pratibha Bhai et al. Front Oncol 2023 131208244 -
Actionable molecular alterations in newly diagnosed and recurrent IDH1/2 wild-type glioblastoma patients and therapeutic implications: a large mono-institutional experience using extensive next-generation sequencing analysis.
Marta Padovan et al. Eur J Cancer 2023 191112959 -
Racial and sex differences in tumor genomics in urothelial carcinoma.
Yaw A Nyame et al. Urol Oncol 2023 -
Clinical application of the 21-gene oncotype recurrence score in an older cohort: A single center experience.
E D Chiru et al. Transl Oncol 2023 36101724 -
Evaluation of somatic mutations in cervicovaginal samples as a non-invasive method for the detection and molecular classification of endometrial cancer.
Beatriz Pelegrina et al. EBioMedicine 2023 94104716 -
Diagnostic yield of a risk model versus faecal immunochemical test only: a randomised controlled trial in a colorectal cancer screening programme.
Tim L Kortlever et al. Br J Cancer 2023 -
Performance of a Cell-Free DNA-Based Multi-cancer Detection Test in Individuals Presenting With Symptoms Suspicious for Cancers.
Alan H Bryce et al. JCO Precis Oncol 2023 7e2200679 -
The budget impact of utilizing the Oncotype DX Breast Recurrence Score® test from a US healthcare payer perspective.
Vladislav Berdunov et al. J Med Econ 2023 1-26 -
Clinical utility of whole-genome DNA methylation profiling as a primary molecular diagnostic assay for central nervous system tumors-A prospective study and guidelines for clinical testing.
Kristyn Galbraith et al. Neurooncol Adv 2023 5(1) vdad076 -
Integrated analysis of the microbiome and transcriptome in stomach adenocarcinoma.
Daxiang Zhou et al. Open Life Sci 2023 18(1) 20220528
Hereditary Cancer
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Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan.
Kyota Tatsuta et al. Hered Cancer Clin Pract 2023 21(1) 14 -
Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.
Giovanni Corso et al. Eur J Hum Genet 2023 -
Performance of the eHealth decision support tool, MIPOGG, for recognising children with Li-Fraumeni, DICER1, Constitutional mismatch repair deficiency and Gorlin syndromes.
Robyn Hebert et al. J Med Genet 2023
Chronic Disease
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Laboratory Guidelines Are Needed for Diagnostic Genetic Testing for Monogenic Diabetes.
Andrew T Hattersley et al. Clin Chem 2023 -
Guidelines and Recommendations for Laboratory Analysis in the Diagnosis and Management of Diabetes Mellitus.
David B Sacks et al. Clin Chem 2023
Ethics/Policy/Law
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Clinically Indicated Genomic Sequencing of Children in Foster Care: Legal and Ethical issues.
Hadley Stevens Smith et al. J Pediatr 2023 113612 -
Genomics and inclusion of Indigenous peoples in high income countries.
Kylie Gwynne et al. Hum Genet 2023 -
Ethical challenges in autism genomics: Recommendations for researchers.
Heini M Natri et al. Eur J Med Genet 2023 66(9) 104810 -
The Gene-Edited Babies Controversy: Reactions in the Scientific Community, Social Media, and the Press.
Morgan Meyer et al. Adv Exp Med Biol 2023 1429191-204 -
Towards an appropriate African framework for public engagement with human genome editing: a call to synergistic action.
Gerald Michael Ssebunnya et al. Wellcome Open Res 2023 7302
Practice
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The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.
Sabrina A Suckiel et al. medRxiv 2023 -
The State of Genetics and Genomics Education in US Physician Assistant Programs.
Wesley G Patterson et al. J Physician Assist Educ 2023 -
Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
Dervla M Connaughton et al. J Mol Med (Berl) 2023
Heart, Lung, Blood and Sleep Diseases
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No association between genetic markers and hypertension control in multiple cross-sectional studies.
Valeriya Chekanova et al. Sci Rep 2023 13(1) 11811 -
Determinants of lipid-lowering medication prescribing in a multi-ethnic adult population diagnosed with familial hypercholesterolaemia in South London.
Aya Ayoub et al. Br J Gen Pract 2023 73(suppl 1) -
Age and Sex Differences in the Genetics of Cardiomyopathy.
Oyediran Akinrinade et al. J Cardiovasc Transl Res 2023 -
Ten years' experience in prenatal diagnosis of α-thalassemia in a municipal hospital and retrospective analysis of ultrasonic abnormalities.
Haijun Li et al. Int J Hematol 2023 -
Application of genetic risk score for in-stent restenosis of second- and third-generation drug-eluting stents in geriatric patients.
Yu-Ling Hsu et al. BMC Geriatr 2023 23(1) 443 -
Screening for Lipid Disorders in Children and Adolescents: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2023 330(3) 253-260
Newborn Screening
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Evidence and Recommendation for Guanidinoacetate Methyltransferase Deficiency Newborn Screening.
Margie A Ream et al. Pediatrics 2023
Pharmacogenomics
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The Genetic Testing Reference Materials Coordination Program: Over 10 Years of Support for Pharmacogenomic Testing.
Stuart A Scott et al. J Mol Diagn 2023 -
UGT1A1 genotype-guided dosing of irinotecan: time to prioritize patient safety.
Sofía Lj Peeters et al. Pharmacogenomics 2023 -
Engaging Students in Pharmacogenetics: Patient Case Studies Using the PharmGKB Website.
Andrea M Mosquera et al. CourseSource 2023 10