Published on 02/03/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Gene-Based Therapeutics for Inherited Retinal Diseases.
Fenner Beau J et al. Frontiers in genetics 2022 12794805 -
22q11.2 recurrent copy number variation-related syndrome: a retrospective analysis of our own microarray cohort and a systematic clinical overview of ClinGen curation.
Xue Jiangyang et al. Translational pediatrics 2022 10(12) 3273-3281
Cancer Genomics
-
Adjuvant chemotherapy guidance for pT1-3N0-1 breast cancer patients with HR, HER2 subtype: a cohort study based on the SEER database.
Wen Nan et al. Annals of translational medicine 2022 9(24) 1779 -
Spectrum of MAP3K1 mutations in breast cancer is luminal subtype-predominant and related to prognosis.
Li Cheukfai et al. Oncology letters 2022 23(2) 68 -
Copy-number intratumor heterogeneity increases the risk of relapse in chemotherapy-naive stage II colon cancer.
Lahoz Sara et al. The Journal of pathology 2022 -
Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.
Alsina Katherina M et al. Ocular oncology and pathology 2022 7(6) 428-436 -
A Six-microRNA Signature Nomogram for Preoperative Prediction of Tumor Deposits in Colorectal Cancer.
Xiao Shihan et al. International journal of general medicine 2022 15675-687 -
Expanded evidence that the 31-gene expression profile test provides clinical utility for melanoma management in a multicenter study.
Dillon Larry D et al. Current medical research and opinion 2022 1-21 -
A 7-gene signature predicts the prognosis of patients with bladder cancer.
Tang Fucai et al. BMC urology 2022 22(1) 8 -
Tumor Genomic Testing for >4000 Men with Metastatic Castration-resistant Prostate Cancer in the Phase III Trial PROfound (Olaparib).
Hussain Maha et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
Comparative analysis and isoform-specific therapeutic vulnerabilities of KRAS mutations in non-small cell lung cancer.
Ricciuti Biagio et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2022 -
Characterization of Blood-Based Molecular Profiling in Pancreatic Adenocarcinoma.
Chung Christine et al. Oncology (Williston Park, N.Y.) 2022 35(12) 794-803 -
A pilot of Blood-First diagnostic cell free DNA (cfDNA) next generation sequencing (NGS) in patients with suspected advanced lung cancer.
Cui Wanyuan et al. Lung cancer (Amsterdam, Netherlands) 2022 16534-42
Hereditary Cancer
-
Annual Mammographic Screening Reduces the Risk of Interval or Higher Stage Invasive Breast Cancers Among Postmenopausal Women in the Ontario Breast Screening Program.
Blackmore Kristina M et al. Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes 2022 8465371211062883 -
Comparison of a Focused Family Cancer History Questionnaire to Family History Documentation in the Electronic Medical Record.
Clift Kristin et al. Journal of primary care & community health 2022 1321501319211069756 -
Pathology of Tumors Associated With Pathogenic Germline Variants in 9 Breast Cancer Susceptibility Genes.
et al. JAMA oncology 2022 -
Predicting pancreatic cancer in the UK Biobank cohort using polygenic risk scores and diabetes mellitus.
Sharma Shreya et al. Gastroenterology 2022 -
Outcomes of support groups for carriers of BRCA 1/2 pathogenic variants and their relatives: a systematic review.
Bertonazzi Benedetta et al. European journal of human genetics : EJHG 2022 -
Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.
Li Shuai et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2022 JCO2102112 -
An overview of genetic services delivery for hereditary breast cancer.
Reid Sonya et al. Breast cancer research and treatment 2022 -
New Perspectives on the Recurrent Monoallelic Germline Mutations of DNA Repair and Checkpoint Genes and Clinical Variability.
Sahin Ibrahim et al. Genetic testing and molecular biomarkers 2022 26(1) 17-25 -
Comprehensive assessment of germline pathogenic variant detection in tumor-only sequencing.
Terraf P et al. Annals of oncology : official journal of the European Society for Medical Oncology 2022 -
Variation in Breast Cancer Risk Model Estimates Among Women in Their 40s Seen in Primary Care.
Schonberg Mara A et al. Journal of women's health (2002) 2022
Chronic Disease
-
Genetic variants in obesity-related genes and the risk of osteoporotic fracture. The Hortega Follow-up Study.
Usategui-Martín Ricardo et al. Frontiers in bioscience (Landmark edition) 2022 27(1) 32
Ethics/Policy/Law
-
The good, the bad, and the utilitarian: attitudes towards genetic testing and implications for disability.
Maftei Alexandra et al. Current psychology (New Brunswick, N.J.) 2022 1-22 -
Translational Science, DNA Commercialization, and Informed Consent: The Need for Specific Terminology, Insights from a Review of H3Africa Projects.
Marshall Patricia et al. Public health genomics 2022 1-8 -
Certainties and Uncertainties in Genetic Information: Good Ethics Starts with Good Data.
Esquerda Montserrat et al. The American journal of bioethics : AJOB 2022 22(2) 48-50 -
Race, Ancestry, and Disease Outcomes in Black Individuals: a Clarification.
Horimoto Andrea R V R et al. Circulation. Genomic and precision medicine 2022 CIRCGEN121003630 -
GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Rehm Heidi L et al. Cell genomics 2022 1(2)
Practice
-
Simulating the Genetics Clinic of the Future - whether undergoing whole-genome sequencing shapes professional attitudes.
Brunfeldt Minna et al. Journal of community genetics 2022 -
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort.
Shears Annalie et al. Journal of clinical immunology 2022 -
Reanalysis of genomic data: An overview of the mechanisms and complexities of clinical adoption.
Robertson Alan J et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Diagnostic sequencing to support genetically stratified medicine in a tertiary care setting.
Lippa Natalie et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Variant interpretation in molecular autopsy: a useful dilemma.
Scheiper-Welling Stefanie et al. International journal of legal medicine 2022 -
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
Romero Raquel et al. NPJ genomic medicine 2022 7(1) 7
Heart, Lung, Blood and Sleep Diseases
-
Association of ZFHX3 Genetic Polymorphisms and Extra-Pulmonary Vein Triggers in Patients With Atrial Fibrillation Who Underwent Catheter Ablation.
Hwang Inseok et al. Frontiers in physiology 2022 12807545 -
Clinical Phenotypes of Cystic Fibrosis Carriers.
Polgreen Philip M et al. Annual review of medicine 2022 73563-574 -
Parvovirus 4 in Individuals with Severe Hemophilia A and Matched Control Group.
Asiyabi Sanaz et al. International journal of hematology-oncology and stem cell research 2022 15(3) 192-198 -
Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis.
Lazarova Elena et al. Journal of clinical laboratory analysis 2022 e24248 -
International Approaches to Management of CFTR-Related Metabolic Syndrome/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis.
Chudleigh Jane et al. International journal of neonatal screening 2022 8(1) -
Health technology assessment for gene therapies in haemophilia.
O'Hara Jamie et al. Haemophilia : the official journal of the World Federation of Hemophilia 2022 -
Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial.
Magrin Elisa et al. Nature medicine 2022 -
Prevalence of Inherited Cardiac Conditions in Pediatric First-Degree Relatives of Patients with Idiopathic Ventricular Fibrillation.
Brunet-Garcia Laia et al. Pediatric cardiology 2022 -
Genetic risk scores used in cardiovascular disease prediction models: a systematic review.
Yun Hyunok et al. Reviews in cardiovascular medicine 2022 23(1) 8 -
Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular genomics.
Arbustini Eloisa et al. European heart journal 2022 -
The ektacytometric elongation Index (EI) of erythrocytes, validation of a prognostic, rheological biomarker for patients with sickle cell disease.
Franck Paul et al. European journal of haematology 2022 -
Genetically predicted childhood obesity and adult atrial fibrillation: A mendelian randomization study.
Chen Weiqi et al. Nutrition, metabolism, and cardiovascular diseases : NMCD 2022 -
Machine learning optimized polygenic scores for blood cell traits identify sex-specific trajectories and genetic correlations with disease.
Xu Yu et al. Cell genomics 2022 2(1) None
Newborn Screening
-
Is Newborn Hearing Screening Cost Effective? Economic Consideration for Policy Makers.
Jafarlou Fatemeh et al. International journal of preventive medicine 2022 12155 -
Cost-effectiveness analysis on implementing newborn hearing screening programmes in a low- to middle-income country.
Pitathawatchai Pittayapon et al. International journal of audiology 2022 1-10 -
Combined genetic screening and traditional biochemical screening to optimize newborn screening systems.
Wang Xin et al. Clinica chimica acta; international journal of clinical chemistry 2022 52844-51
Pharmacogenomics
-
The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction.
Trompet Stella et al. Frontiers in pharmacology 2022 12679857 -
Pharmacogenomic prescribing opportunities in percutaneous coronary intervention and bone marrow transplant patients.
Ratner Lindsay et al. Pharmacogenomics 2022 -
PGxKnow: a pharmacogenomics educational HoloLens application of augmented reality and artificial intelligence.
Roosan Don et al. Pharmacogenomics 2022 -
Medication Optimization Using Pharmacogenomic Testing in a Complex Mental Health Population Prescribed Psychiatric Polypharmacy.
Wood Amanda Ernst et al. Journal of clinical pharmacology 2022 -
Clinically actionable genotypes for anticancer prescribing among >1500 patients with pharmacogenomic testing.
Reizine Natalie M et al. Cancer 2022
Reproductive Health
-
Fertility counseling in women with hereditary cancer syndromes.
Somigliana Edgardo et al. Critical reviews in oncology/hematology 2022 103604 -
Diagnostic yield of genome sequencing for fetal structural anomalies.
Wang Yiming et al. Prenatal diagnosis 2022 -
Cell-free DNA screening for trisomies 21, 18 and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022