Published on 08/04/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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MicroRNA and MicroRNA-Target Variants Associated with Autism Spectrum Disorder and Related Disorders.
Wong Anthony et al. Genes 2022 13(8) -
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan Koon-Wing et al. Frontiers in immunology 2022 13883446 -
DNA Methylation Episignatures in Neurodevelopmental Disorders Associated with Large Structural Copy Number Variants: Clinical Implications.
Rooney Kathleen et al. International journal of molecular sciences 2022 23(14)
Cancer Genomics
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Analysis of actionable genetic alterations in lung carcinoma from the VA National Precision Oncology Program.
Jalal Shadia I et al. Seminars in oncology 2022 -
Advanced Squamous Cell Carcinomas of the Pelvic and Perineal Region: A Comprehensive Genomic Profiling Study.
Necchi Andrea et al. The oncologist 2022 -
An Intratumor Heterogeneity-Related Signature for Predicting Prognosis, Immune Landscape, and Chemotherapy Response in Colon Adenocarcinoma.
Liu Cong et al. Frontiers in medicine 2022 9925661 -
DNA methylation profiling improves routine diagnosis of paediatric CNS tumours: a prospective population-based study.
Schepke Elizabeth et al. Neuropathology and applied neurobiology 2022 e12838 -
Clinical characteristics and molecular aspects of low-grade serous ovarian and peritoneal cancer: a multicenter, observational, retrospective analysis of MITO Group (MITO 22).
Musacchio Lucia et al. British journal of cancer 2022 -
Indeterminate Thyroid Fine-Needle Aspirations in Pediatrics: Exploring the Clinicopathologic Features and Utility of Molecular Profiling.
Baran Julia A et al. Hormone research in paediatrics 2022 -
Clinical Laboratory Testing Practices in Diffuse Gliomas Prior to Publication of 2021 World Health Organization Classification of Central Nervous System Tumors.
Ramkissoon Shakti H et al. Archives of pathology & laboratory medicine 2022 -
Clinical Utility of Genomic Assay in Node-Positive Early-Stage Breast Cancer.
Pauls Mehrnoosh et al. Current oncology (Toronto, Ont.) 2022 29(7) 5139-5149 -
Real-World Clinical Outcomes after Genomic Profiling of Circulating Tumor DNA in Patients with Previously Treated Advanced Non-Small Cell Lung Cancer.
Olsen Steven et al. Current oncology (Toronto, Ont.) 2022 29(7) 4811-4826 -
Upfront Next Generation Sequencing in Non-Small Cell Lung Cancer.
Kuang Shelley et al. Current oncology (Toronto, Ont.) 2022 29(7) 4428-4437 -
PO2RDF: representation of real-world data for precision oncology using resource description framework.
Zhao Yiqing et al. BMC medical genomics 2022 15(1) 167 -
Nodal Pathologic Complete Response Rates in Luminal Breast Cancer Vary by Genomic Risk.
Boughey Judy C et al. Annals of surgical oncology 2022 -
Cost-Effectiveness of Poly ADP-Ribose Polymerase Inhibitors in Cancer Treatment: A Systematic Review.
Chan Vivien Kin Yi et al. Frontiers in pharmacology 2022 13891149
Hereditary Cancer
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The Identification by Exome Sequencing of Candidate Genes in BRCA-Negative Tunisian Patients at a High Risk of Hereditary Breast/Ovarian Cancer.
BenAyed-Guerfali Dorra et al. Genes 2022 13(8) -
Genetic counselors' experience with reimbursement and patient out-of-pocket cost for multi-cancer gene panel testing for hereditary cancer syndromes.
Weldon Christine B et al. Journal of genetic counseling 2022 -
Influence of germline BRCA genotype on the survival of patients with triple-negative breast cancer.
Villarreal-Garza Cynthia et al. Cancer research communications 2022 1(3) 140-147 -
An Electronic Health Record Tool Increases Genetic Counseling Referral of Individuals at Hereditary Cancer Risk: An Intervention Study.
Wurtmann Elisabeth J et al. Public health genomics 2022 1-7 -
Novel Germline Mutations in a Cohort of Men with Familial Prostate Cancer.
Mondschein Romy et al. Cancers 2022 14(15) -
Genetic Testing and/or Counseling for Colorectal Cancer by Health Insurance Type.
Mansur Arian et al. Journal of personalized medicine 2022 12(7) -
Identification of Lynch Syndrome in Patients with Endometrial Cancer Based on a Germline Next Generation Sequencing Multigene Panel Test.
Kim Yoo-Na et al. Cancers 2022 14(14) -
Impact of comprehensive family history and genetic analysis in the multidisciplinary pancreatic tumor clinic setting.
Everett Jessica N et al. Cancer medicine 2022 -
A qualitative study of unaffected ATM and CHEK2 carriers: How participants make meaning of 'moderate risk' genetic results in a population breast cancer screening trial.
James Jennifer Elyse et al. Journal of genetic counseling 2022 -
Cost-Effectiveness of BRCA 1/2 Genetic Test and Preventive Strategies: Using Real-World Data From an Upper-Middle Income Country.
Lourenção Marina et al. Frontiers in oncology 2022 12951310
Chronic Disease
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Cognitive Capacity Genome-Wide Polygenic Scores Identify Individuals with Slower Cognitive Decline in Aging.
Joo Yoonjung Yoonie et al. Genes 2022 13(8) -
Systematic evaluation of genetic mutations in ALS: a population-based study.
Grassano Maurizio et al. Journal of neurology, neurosurgery, and psychiatry 2022 -
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis.
Lemoine Hugo et al. American journal of human genetics 2022 -
Geriatricians' Perspectives on the Multiple Dimensions of Utility of Genetic Testing for Alzheimer's Disease: A Qualitative Study.
Arias Jalayne J et al. Journal of Alzheimer's disease : JAD 2022 -
Polygenic Risk Prediction in Diverticulitis.
De Roo Ana C et al. Annals of surgery 2022
Ethics/Policy/Law
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Benefits and Risks of Sharing Genomic Data for Research: Comparing the Views of Rare Disease Patients, Informal Carers and Healthcare Professionals.
Amorim Mariana et al. International journal of environmental research and public health 2022 19(14) -
Ethical Considerations in Precision Medicine and Genetic Testing in Internal Medicine Practice: A Position Paper From the American College of Physicians.
Lehmann Lisa Soleymani et al. Annals of internal medicine 2022
Practice
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Assessing the clinical utility of protein structural analysis in genomic variant classification: experiences from a diagnostic laboratory.
Caswell Richard C et al. Genome medicine 2022 14(1) 77 -
Stakeholders Perceptions of Barriers to Precision Medicine Adoption in the United States.
Schroll Monica M et al. Journal of personalized medicine 2022 12(7) -
Motivational interviewing for genetic counseling: A unified framework for persuasive and equipoise conversations.
Resnicow Ken et al. Journal of genetic counseling 2022
Heart, Lung, Blood and Sleep Diseases
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Predictive Utility of a Validated Polygenic Risk Score for Long-Term Risk of Coronary Heart Disease in Young and Middle-Aged Adults.
Khan Sadiya S et al. Circulation 2022 101161CIRCULATIONAHA121058426 -
Resistance Training Recommendations for Children and Adolescents With Cystic Fibrosis-Related Diabetes.
Holmes Clifton J et al. Strength and conditioning journal 2022 44(1) 111-118 -
Disparities in first evaluation of infants with cystic fibrosis since implementation of newborn screening.
McColley Susanna A et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022 -
Nutritional Treatment in a Cohort of Pediatric Patients with Familial Hypercholesterolaemia: Effect on Lipid Profile.
Capra Maria Elena et al. Nutrients 2022 14(14) -
Genetic Contributors of Efficacy and Adverse Metabolic Effects of Chlorthalidone in African Americans from the Genetics of Hypertension Associated Treatments (GenHAT) Study.
Armstrong Nicole D et al. Genes 2022 13(7) -
A Simple, Cost-Effective, and Extraction-Free Molecular Diagnostic Test for Sickle Cell Disease Using a Noninvasive Buccal Swab Specimen for a Limited-Resource Setting.
Thakur Priya et al. Diagnostics (Basel, Switzerland) 2022 12(7) -
Psychometric Validation of the Haemo-QOL-A in Participants with Hemophilia A Treated with Gene Therapy.
Quinn Jennifer et al. Patient related outcome measures 2022 13169-180 -
High-Priced Sickle Cell Gene Therapies Threaten to Exacerbate US Health Disparities and Establish New Pricing Precedents for Molecular Medicine.
Tessema Frazer A et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2022 50(2) 380-384
Newborn Screening
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Economic Evaluation of Newborn Screening for Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3) -
The Progress and Future of US Newborn Screening.
Watson Michael S et al. International journal of neonatal screening 2022 8(3) -
Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency.
Shih Sophy T F et al. International journal of neonatal screening 2022 8(3) -
Newborn Screening by Genomic Sequencing: Opportunities and Challenges.
Bick David et al. International journal of neonatal screening 2022 8(3) -
Different management approaches and outcome for infants with an inconclusive diagnosis following newborn screening for cystic fibrosis (CRMS/CFSPID) and Pseudomonas aeruginosa isolation.
Dolce Daniela et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2022 -
Making Decisions About Krabbe Disease Newborn Screening.
Kurtzberg Joanne et al. Pediatrics 2022 150(2) -
Co-designing Improved Communication of Newborn Bloodspot Screening Results to Parents: Mixed Methods Study.
Chudleigh Jane et al. Journal of participatory medicine 2022 14(1) e33485
Pharmacogenomics
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A Guide to a Pharmacist-Led Pharmacogenetic Testing and Counselling Service in an Interprofessional Healthcare Setting.
Stäuble Céline K et al. Pharmacy (Basel, Switzerland) 2022 10(4) -
Assessing the impact of pre-test education on patient knowledge, perceptions, and expectations of pharmacogenomic testing to guide antidepressant use.
Sloat Nicholette T et al. Journal of genetic counseling 2022 -
Effect Modification by Social Determinants of Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions within an Integrated U.S. Healthcare System.
Saulsberry Loren et al. Journal of personalized medicine 2022 12(7) -
A blockchain-based framework to support pharmacogenetic data sharing.
Albalwy F et al. The pharmacogenomics journal 2022 -
Pharmacogenomics of Leukotriene Modifiers: A Systematic Review and Meta-Analysis.
Zhao Yuxuan et al. Journal of personalized medicine 2022 12(7) -
Genome-wide association study in individuals of European and African ancestry and multi-trait analysis of opioid use disorder identifies 19 independent genome-wide significant risk loci.
Deak Joseph D et al. Molecular psychiatry 2022 -
Cost-Effectiveness of Polygenic Risk Scores to Guide Statin Therapy for Cardiovascular Disease Prevention.
Kiflen Michel et al. Circulation. Genomic and precision medicine 2022 101161CIRCGEN121003423 -
A clinician's guide for counseling patients on results of a multigene pharmacogenomic panel.
Ho Teresa T et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2022
Reproductive Health
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A Cross-Sectional Study of the Marital Attitudes of Pregnant Women at Risk for Cystic Fibrosis and Psychological Impact of Prenatal Screening.
Popa Zoran Laurentiu et al. International journal of environmental research and public health 2022 19(14)