Published on 01/27/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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In silico analysis of GATA4 variants demonstrates main contribution to congenital heart disease.
Abbasi Shiva et al. Journal of cardiovascular and thoracic research 2022 13(4) 336-354 -
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease.
Best Stephanie et al. European journal of human genetics : EJHG 2022 -
Array comparative genomic hybridisation results of non-syndromic children with the conotruncal heart anomaly.
Mermer Serdar et al. Cardiology in the young 2022 1-6 -
Underlying Genetic Etiologies of Congenital Diaphragmatic Hernia.
Scott Daryl A et al. Prenatal diagnosis 2022 -
Testing and extending strategies for identifying genetic disease-related encounters in pediatric patients.
Spees Lisa P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.
Hildebrandt Clara et al. Child abuse & neglect 2022 125105480
Cancer Genomics
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Development and Validation of a Genomic Tool to Predict Seminal Vesicle Invasion in Adenocarcinoma of the Prostate.
Hall William A et al. JCO precision oncology 2022 41228-1238 -
Tumor Molecular Profiling: Pediatric Results of the ProfiLER Study.
Benezech Sarah et al. JCO precision oncology 2022 4785-795 -
Palbociclib in Patients With Non-Small-Cell Lung Cancer With CDKN2A Alterations: Results From the Targeted Agent and Profiling Utilization Registry Study.
Ahn Eugene R et al. JCO precision oncology 2022 4757-766 -
Relevance and Effectiveness of Molecular Tumor Board Recommendations for Patients With Non-Small-Cell Lung Cancer With Rare or Complex Mutational Profiles.
Koopman Bart et al. JCO precision oncology 2022 4393-410 -
Utility of Circulating Tumor DNA in the Management of Patients With GI Stromal Tumor: Analysis of 243 Patients.
Arshad Junaid et al. JCO precision oncology 2022 466-73 -
Performance of repeat cytology with reflex ThyroSeq genomic classifier for indeterminant thyroid cytology.
O'Conor Christopher J et al. Cancer cytopathology 2022 -
International Harmonization of Provisional Diagnostic Criteria for ERBB2-Amplified Metastatic Colorectal Cancer Allowing for Screening by Next-Generation Sequencing Panel.
Fujii Satoshi et al. JCO precision oncology 2022 46-19 -
Does Perioperative Testosterone Predict Post-prostatectomy Genomic Risk Score?
Shahait Mohammed et al. The Journal of urology 2022 101097JU0000000000002440 -
ERBB2 Copy Number as a Quantitative Biomarker for Real-World Outcomes to Anti-Human Epidermal Growth Factor Receptor 2 Therapy in Advanced Gastroesophageal Adenocarcinoma.
Zhang Liangliang et al. JCO precision oncology 2022 6e2100330 -
Diagnostic value of microRNA-148/152 family in non-small-cell lung cancer (NSCLC): A systematic review and meta-analysis.
Cheng Long et al. Medicine 2022 100(48) e28061 -
Whole-genome and Transcriptome Sequencing Identified NOTCH2 and HES1 as Potential Markers of Response to Imatinib in Desmoid Tumor (Aggressive Fibromatosis): A Phase II Trial Study.
Kwon Joonha et al. Cancer research and treatment 2022 -
Integration of rapid PCR testing as an adjunct to NGS in diagnostic pathology services within the UK: evidence from a case series of non-squamous, non-small cell lung cancer (NSCLC) patients with follow-up.
Finall Alison et al. Journal of clinical pathology 2022
Hereditary Cancer
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Clinical Utilization, Utility, and Reimbursement for Expanded Genomic Panel Testing in Adult Oncology.
Hsiao Susan J et al. JCO precision oncology 2022 41038-1048 -
No Evidence of Increased Risk of Breast Cancer in Women With Lynch Syndrome Identified by Multigene Panel Testing.
Stoll Jessica et al. JCO precision oncology 2022 451-60 -
Racial and ethnic variation in multigene panel testing in a cohort of BRCA1/2-negative individuals who had genetic testing in a large urban comprehensive cancer center.
Tatineni Sushma et al. Cancer medicine 2022 -
Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative.
Greve Veronica et al. HGG advances 2022 3(1) 100055 -
Surveillance improves outcomes for carriers of SDHB pathogenic variants: a multi-center study.
Davidoff Dahlia F et al. The Journal of clinical endocrinology and metabolism 2022 -
Women's health behaviour change after receiving breast cancer risk estimates with tailored screening and prevention recommendations.
Rainey Linda et al. BMC cancer 2022 22(1) 69
Chronic Disease
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Polygenic risk scores are associated with radiographic progression in patients with rheumatoid arthritis.
Honda Suguru et al. Arthritis & rheumatology (Hoboken, N.J.) 2022 -
Translating osteoarthritis genetics research: challenging times ahead.
Loughlin John et al. Trends in molecular medicine 2022
Ethics/Policy/Law
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Ethical, Legal, and Social Implications (ELSI) Research: Methods and Approaches.
Ogbogu Ubaka et al. Current protocols 2022 2(1) e354 -
Moral distress in genetic counseling: A study of North American genetic counselors.
Wadman Erin et al. Journal of genetic counseling 2022 -
Diversity training experiences and factors associated with implicit racial bias among recent genetic counselor graduates of accredited programs in the United States and Canada.
Pollock Bethany et al. Journal of genetic counseling 2022
Practice
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Lessons learned from the eMERGE Network: balancing genomics in discovery and practice.
et al. HGG advances 2022 2(1) 100018 -
Genetic Predictors of Change in Waist Circumference and Waist-To-Hip Ratio with Lifestyle Intervention: the Trans-NIH consortium for Genetics of Weight Loss Response to Lifestyle Intervention.
McCaffery Jeanne M et al. Diabetes 2022
Heart, Lung, Blood and Sleep Diseases
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Prevalence of phenotypic familial hypercholesterolaemia and elevated lipoprotein(a) in patients with premature coronary artery disease: implications for developing cardiometabolic services.
Wong Russell S et al. Coronary artery disease 2022 -
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management.
Pezzoli Laura et al. Journal of cardiovascular development and disease 2022 9(1) -
Cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).
Sinha Aditi et al. Breathe (Sheffield, England) 2022 17(3) 210088
Newborn Screening
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Population-Based Newborn Screening for Germline TP53 Variants: Clinical Benefits, Cost-Effectiveness, and Value of Further Research.
Kunst Natalia et al. Journal of the National Cancer Institute 2022 -
Modeling Genomic Screening in Newborns.
Lu Christine Y et al. JAMA pediatrics 2022
Pharmacogenomics
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Automated Pharmacogenomic Reports for Clinical Genome Sequencing.
Klanderman Barbara J et al. The Journal of molecular diagnostics : JMD 2022 -
Real-world data of off-label drug use in patients with actionable genomic alterations on next-generation sequencing.
Roman Souza Gabriel et al. Investigational new drugs 2022 -
Temozolomide-induced myelotoxicity and single nucleotide polymorphisms in the MGMT gene in patients with adult diffuse glioma: a single-institutional pharmacogenetic study.
Moitra Prithwijit et al. Journal of neuro-oncology 2022 -
Clinical Pharmacogenetics Implementation Consortium Guideline for CYP2C19 Genotype and Clopidogrel Therapy: 2022 Update.
Lee Craig R et al. Clinical pharmacology and therapeutics 2022
Reproductive Health
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State-wide increase in prenatal diagnosis of Klinefelter syndrome on amniocentesis and chorionic villus sampling: impact of non-invasive prenatal testing (NIPT) for sex chromosome conditions.
Loughry Lulu et al. Prenatal diagnosis 2022 -
Carrier screening and PGT for an autosomal recessive monogenic disorder: insights from virtual trials.
Scriven Paul N et al. Journal of assisted reproduction and genetics 2022 -
Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay.
Walters-Sen Lauren et al. Reproductive biomedicine online 2022 -
Evolving approaches to prenatal genetic counseling for Spinal Muscular Atrophy in the new treatment era.
Zettler Bethany et al. Journal of genetic counseling 2022 -
Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022