Published on 12/01/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing.
Bowling Kevin M et al. Genome medicine 2022 14(1) 131 -
A comprehensive list of human microdeletion and microduplication syndromes.
Wetzel Alyssa S et al. BMC genomic data 2022 23(1) 82 -
Developmental dysplasia of the hip: A systematic review of susceptibility genes and epigenetics.
Wen Jiaxin et al. Gene 2022 147067 -
Genetic Diagnosis Impacts Medical Management for Pediatric Epilepsies.
Haviland Isabel et al. Pediatric neurology 2022 13871-80 -
Significant healthcare burden and life cost of spinal muscular atrophy: real-world data.
Chan Sophelia H S et al. The European journal of health economics : HEPAC : health economics in prevention and care 2022 -
Inborn errors of metabolism refuse to stay-at-home: Experiences of a state-wide biochemical genetics service during the COVID-19 pandemic.
Gutierrez Bea et al. Journal of paediatrics and child health 2022 -
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
Beaman Makenzie et al. Journal of personalized medicine 2022 12(11) -
Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research.
Blumling Amy A et al. Journal of personalized medicine 2022 12(11)
Cancer Genomics
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Cobimetinib Plus Vemurafenib in Patients With Colorectal Cancer With BRAF Mutations: Results From the Targeted Agent and Profiling Utilization Registry (TAPUR) Study.
Klute Kelsey A et al. JCO precision oncology 2022 6e2200191 -
DNA methylation-based detection and prediction of cervical intraepithelial neoplasia grade 3 and invasive cervical cancer with the WID™-qCIN test.
Herzog Chiara et al. Clinical epigenetics 2022 14(1) 150 -
Up-front mutation detection in circulating tumor DNA by droplet digital PCR has added diagnostic value in lung cancer.
Visser Esther et al. Translational oncology 2022 27101589 -
Analytical Performance of Next-Generation Sequencing and RT-PCR on Formalin-Fixed Paraffin-Embedded Tumor Tissues for PIK3CA Testing in HR+/HER2- Breast Cancer.
Venetis Konstantinos et al. Cells 2022 11(22) -
Molecular diagnosis of pancreatobiliary tract cancer by detecting mutations and methylation changes in bile samples.
He Shun et al. EClinicalMedicine 2022 55101736 -
Preliminary Experience of Liquid Biopsy in Lung Cancer Compared to Conventional Assessment: Light and Shadows.
Montella Marco et al. Journal of personalized medicine 2022 12(11) -
Hypoxia-Inducible Factor-2-Altered Urothelial Carcinoma: Clinical and Genomic Features.
Vlachostergios Panagiotis J et al. Current oncology (Toronto, Ont.) 2022 29(11) 8638-8649
Hereditary Cancer
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UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2.
Hanson Helen et al. Journal of medical genetics 2022 -
Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital.
Dueñas Nuria et al. Cancer epidemiology 2022 82102291 -
Development and initial testing of a multi-stakeholder intervention for Lynch syndrome cascade screening: an intervention mapping approach.
Passero Lauren et al. BMC health services research 2022 22(1) 1411 -
Variable number tandem repeats (VNTRs) as modifiers of breast cancer risk in carriers of BRCA1 185delAG.
Ding Yuan Chun et al. European journal of human genetics : EJHG 2022 -
A review of the cost-effectiveness of genetic testing for germline variants in familial cancer.
Teppala Srinivas et al. Journal of medical economics 2022 1-38 -
BRCAShare-Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study.
Aeilts Amber M et al. Journal of genetic counseling 2022 -
A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes.
Makhnoon Sukh et al. Cancer medicine 2022 -
Whole-exome sequencing of BRCA-negative breast cancer patients and case-control analyses identify variants associated with breast cancer susceptibility.
Lee Ning Yuan et al. Human genomics 2022 16(1) 61 -
Risk-Adapted Starting Age for Personalized Colorectal Cancer Screening: Validated Evidence from National Population-Based Studies.
Dong Xuesi et al. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2022
Ethics/Policy/Law
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An e-consent framework for tiered informed consent for human genomic research in the global south, implemented as a REDCap template.
Tamuhla Tsaone et al. BMC medical ethics 2022 23(1) 119 -
Can genomic research make a useful contribution to social policy?
Asbury Kathryn et al. Royal Society open science 2022 9(11) 220873 -
Testing a deliberative democracy method with citizens of African ancestry to weigh pros and cons of targeted screening for hereditary breast and ovarian cancer risk.
Guan Yue et al. Frontiers in public health 2022 10984926
Practice
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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver Vikas et al. American journal of human genetics 2022 -
Workforce Considerations When Building a Precision Medicine Program.
Blout Zawatsky Carrie L et al. Journal of personalized medicine 2022 12(11) -
Genome access and other web-based IT solutions: Genetic counseling in the digital era.
Cazzaniga Alessia et al. Frontiers in public health 2022 101035316
Heart, Lung, Blood and Sleep Diseases
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Unified Airway Disease: Genetics and Epigenetics.
Brar Tripti et al. Otolaryngologic clinics of North America 2022 56(1) 23-38 -
Perceptions of airway gene therapy for cystic fibrosis.
Donnelley Martin et al. Expert opinion on biological therapy 2022 -
Concealed Cardiomyopathy in Autopsy-Inconclusive Cases of Sudden Cardiac Death and Implications for Families.
Isbister Julia C et al. Journal of the American College of Cardiology 2022 80(22) 2057-2068 -
Long-Term Efficacy and Safety of Evinacumab in Patients with Homozygous Familial Hypercholesterolemia: Real-World Clinical Experience.
Stefanutti Claudia et al. Pharmaceuticals (Basel, Switzerland) 2022 15(11) -
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Zubieliene Kristina et al. Medicina (Kaunas, Lithuania) 2022 58(11) -
Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations.
Sandholm Niina et al. Genome medicine 2022 14(1) 132 -
Prevalence and characteristics of family history of sudden unexplained death and predictors of negative attitude of family members toward medical autopsy and family screening in Saudi Arabia: A cross-sectional study.
Alqarawi Wael et al. PloS one 2022 17(11) e0277914 -
Persistence with long-term PCSK9 inhibitors treatment and its effectiveness in Familial Hypercholesterolemia: data from the SAFEHEART study.
Alonso Rodrigo et al. European journal of preventive cardiology 2022
Newborn Screening
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Parental Depression and Anxiety Associated with Newborn Bloodspot Screening for Rare and Variable-Onset Disorders.
Boychuk Natalie A et al. International journal of neonatal screening 2022 8(4) -
Missed Cystic Fibrosis Newborn Screening Cases due to Immunoreactive Trypsinogen Levels below Program Cutoffs: A National Survey of Risk Factors.
Kharrazi Martin et al. International journal of neonatal screening 2022 8(4) -
REFINEMENT OF NEWBORN SCREENING FOR CYSTIC FIBROSIS WITH NEXT GENERATION SEQUENCING.
Rock Michael J et al. Pediatric pulmonology 2022
Pharmacogenomics
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Pharmacogenetics as a predictor chemotherapy induced peripheral neuropathy in gynecologic cancer patients treated with Taxane-based chemotherapy.
Mysona David et al. Gynecologic oncology 2022 168114-118 -
Association of Attention-Deficit/Hyperactivity Disorder and Depression Polygenic Scores with Lithium Response: A Consortium for Lithium Genetics Study.
Coombes Brandon J et al. Complex psychiatry 2022 7(3-4) 80-89 -
Experience, Knowledge, and Perceptions of Pharmacogenomics among Pharmacists and Nurse Practitioners in Alberta Hospitals.
Hayashi Meagan et al. Pharmacy (Basel, Switzerland) 2022 10(6) -
Use of pharmacogenetics for benzodiazepine prescription: state of the art and expectations.
Zubiaur Pablo et al. Pharmacogenomics 2022
Reproductive Health
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Integrative analyses of maternal plasma cell-free DNA nucleosome footprint differences reveal chromosomal aneuploidy fetuses gene expression profile.
Zhang Min et al. Journal of translational medicine 2022 20(1) 536