Published on 03/03/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Infantile spasms: assessing the diagnostic yield of an institutional guideline and the impact of etiology on long-term treatment response.
Chourasia Nitish et al. Epilepsia 2022 -
PatientMatcher: a customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Rasi Chiara et al. Human mutation 2022 -
Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi Inusha et al. Journal of pediatric genetics 2022 11(1) 81-86 -
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen Jiadi et al. American journal of medical genetics. Part A 2022 -
Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.
Álvarez-Mora María Isabel et al. Orphanet journal of rare diseases 2022 17(1) 60 -
Utilizing Genomically Targeted Molecular Data to Improve Patient-Specific Outcomes in Autism Spectrum Disorder.
Hausman-Cohen Sharon et al. International journal of molecular sciences 2022 23(4) -
New Challenges with Treatment Advances in Newborn Infants with Genetic Disorders and Severe Congenital Malformations.
Schuler Rahel et al. Children (Basel, Switzerland) 2022 9(2)
Cancer Genomics
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Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.
Isaacson Alexandra L et al. American journal of clinical pathology 2022 -
Real-World Time on Treatment with First-Line Pembrolizumab Monotherapy for Advanced NSCLC with PD-L1 Expression ≥ 50%: 3-Year Follow-Up Data.
Velcheti Vamsidhar et al. Cancers 2022 14(4) -
The Expression Quantitative Trait Loci in Immune Response Genes Impact the Characteristics and Survival of Colorectal Cancer.
Chan Ren-Hao et al. Diagnostics (Basel, Switzerland) 2022 12(2) -
Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.
Ibrahim Nurul Khalida et al. Cancers 2022 14(4) -
A Scalable Quality Assurance Process for Curating Oncology Electronic Health Records: The Project GENIE Biopharma Collaborative Approach.
Lavery Jessica A et al. JCO clinical cancer informatics 2022 6e2100105 -
Cost-Effectiveness of Molecularly Guided Treatment in Diffuse Large B-Cell Lymphoma (DLBCL) in Patients under 60.
Regier Dean A et al. Cancers 2022 14(4) -
Epidermal growth factor receptor-Mutated Non-small-cell Lung Cancer with Intracranial Progressions and Stable Extracranial Diseases Benefit from Osimertinib Regardless of T790M Mutational Status.
Liao Jun et al. Cancer control : journal of the Moffitt Cancer Center 2022 2910732748221081360 -
PTEN Loss and BRCA1 Promoter Hypermethylation Negatively Predict for Immunogenicity in BRCA-Deficient Ovarian Cancer.
Kraya Adam A et al. JCO precision oncology 2022 6e2100159 -
Cell-Free Tumor DNA (ctDNA) Utility in Detection of Original Sensitizing and Resistant EGFR Mutations in Non-Small Cell Lung Cancer (NSCLC).
Agulnik Jason S et al. Current oncology (Toronto, Ont.) 2022 29(2) 1107-1116 -
Comprehensive characterization of the epigenetic landscape in Multiple Myeloma.
Alaterre Elina et al. Theranostics 2022 12(4) 1715-1729 -
Factors Associated With the Decision to Decline Chemotherapy in Patients With Early-stage, ER+/HER2- Breast Cancer and High-risk Scoring on Genomic Assays.
Bilani Nadeem et al. Clinical breast cancer 2022 -
Analytical validity of DecisionDx-SCC, a gene expression profile test to identify risk of metastasis in cutaneous squamous cell carcinoma (SCC) patients.
Borman Sherri et al. Diagnostic pathology 2022 17(1) 32 -
HOXB9 Overexpression Promotes Colorectal Cancer Progression and Is Associated with Worse Survival in Liver Resection Patients for Colorectal Liver Metastases.
Martinou Eirini et al. International journal of molecular sciences 2022 23(4)
Hereditary Cancer
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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data.
Liu Jiaqi et al. Genome medicine 2022 14(1) 21 -
Women's perceptions of PERSPECTIVE: a breast cancer risk stratification e-platform.
Ahmed Saima et al. Hereditary cancer in clinical practice 2022 20(1) 8 -
Clinical Management of Prostate Cancer in High-Risk Genetic Mutation Carriers.
Clark Roderick et al. Cancers 2022 14(4) -
Pancreatic Cancer with Mutation in BRCA1/2, MLH1, and APC Genes: Phenotype Correlation and Detection of a Novel Germline BRCA2 Mutation.
Vietri Maria Teresa et al. Genes 2022 13(2) -
Genetic testing in prostate cancer management: Considerations informing primary care.
Giri Veda N et al. CA: a cancer journal for clinicians 2022 -
Germline Cancer Risk Profiles of Young-Onset Colorectal Cancer Patients: Findings from a Prospective Universal Germline Testing and Tele-Genetics Program.
You Y Nancy et al. Diseases of the colon and rectum 2022 -
Novel Interactive Tool for Breast and Ovarian Cancer Risk Assessment (Bright Pink Assess Your Risk): Development and Usability Study.
Hibler Elizabeth A et al. Journal of medical Internet research 2022 24(2) e29124 -
Cancer predisposing syndrome: a retrospective cohort analysis in a pediatric and multidisciplinary genetic cancer counseling unit.
Escudero Adela et al. International journal of clinical oncology 2022 -
Half of germline pathogenic and likely pathogenic variants found on panel tests do not fulfil NHS testing criteria.
Andoni Tala et al. Scientific reports 2022 12(1) 2507 -
Cancer risk among RECQL4 heterozygotes.
Martin-Giacalone Bailey A et al. Cancer genetics 2022 262-263107-110 -
Patterns of germline and somatic testing after universal tumor screening for Lynch syndrome: A clinical practice survey of active members of the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.
Hodan Rachel et al. Journal of genetic counseling 2022 -
Prevalent versus incident breast cancers: benefits of clinical and radiological monitoring in women with pathogenic BRCA1/2 variants.
Saule Claire et al. European journal of human genetics : EJHG 2022 -
Risk of multiple myeloma and other malignancies among first- and second-degree relatives of patients with multiple myeloma; A population-based study.
Langseth Øystein O et al. European journal of haematology 2022
Chronic Disease
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How Genetics Can Improve Clinical Practice in Chronic Kidney Disease: From Bench to Bedside.
Piras Doloretta et al. Journal of personalized medicine 2022 12(2)
Ethics/Policy/Law
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The Role of Shared Decision-Making in Personalised Medicine: Opening the Debate.
Guadalajara Hector et al. Pharmaceuticals (Basel, Switzerland) 2022 15(2) -
Symbolic Legislation and the Regulation of Stroke Biobanking and Genomics Research in Sub-Saharan Africa.
Adigun Muyiwa et al. The theory and practice of legislation 2022 9(3) 404-424 -
How to protect the first 'CRISPR babies' prompts ethical debate.
Mallapaty Smriti et al. Nature 2022
Practice
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Extended familial risk of suicide death is associated with younger age at death and elevated polygenic risk of suicide.
Coon Hilary et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2022 -
Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.
Keathley Justine et al. BMJ open 2022 12(2) e054417 -
Clinical Intervention to Reduce Dietary Sugar does not Impact Liver Fat in Latino Youth, Regardless of PNPLA3 Genotype: A Randomized Controlled Trial.
Schmidt Kelsey A et al. The Journal of nutrition 2022 -
The reckoning: The return of genomic results to 1444 participants across the eMERGE3 Network.
Leppig Kathleen A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 -
Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study.
Vidgen Miranda E et al. Frontiers in genetics 2022 12771892 -
Enabling Diagnostic Resulting as a New Category of Secondary Genomic Findings.
Murray Michael F et al. Journal of personalized medicine 2022 12(2)
Heart, Lung, Blood and Sleep Diseases
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Discerning the Ambiguous Role of Missense TTN Variants in Inherited Arrhythmogenic Syndromes.
Martínez-Barrios Estefanía et al. Journal of personalized medicine 2022 12(2) -
Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.
Ibanez Laura et al. Brain : a journal of neurology 2022 -
Managing Severe Hemophilia A in Children: Pharmacotherapeutic Options.
Regling Katherine et al. Pediatric health, medicine and therapeutics 2022 1327-35 -
Managing Atherosclerotic Cardiovascular Risk in Young Adults: JACC State-of-the-Art Review.
Stone Neil J et al. Journal of the American College of Cardiology 2022 79(8) 819-836 -
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc Julien et al. Nature genetics 2022 -
Gender Related Differences in the Clinical Presentation of Hypertrophic Cardiomyopathy-An Analysis from the SILICOFCM Database.
Preveden Andrej et al. Medicina (Kaunas, Lithuania) 2022 58(2) -
Investigation of the Familial Risk of Rheumatic Heart Disease with Systematic Echocardiographic Screening: Data from the PROVAR+ Family Study.
Franco Juliane et al. Pathogens (Basel, Switzerland) 2022 11(2) -
It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal Dominik Sebastian et al. Journal of cardiovascular development and disease 2022 9(2) -
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes.
Tamlander Max et al. Communications biology 2022 5(1) 158 -
Intima-media thickness in treated and untreated patients with and without familial hypercholesterolemia: A systematic review and meta-analysis.
van Bergen En Henegouwen Kika et al. Journal of clinical lipidology 2022 -
Factors Predisposing the Response to Lumacaftor/Ivacaftor in People with Cystic Fibrosis.
Mésinèle Julie et al. Journal of personalized medicine 2022 12(2) -
Elexacaftor/Tezacaftor/Ivacaftor in Patients with Cystic Fibrosis Homozygous for the F508del Mutation and Advanced Lung Disease: A 48-Week Observational Study.
Carnovale Vincenzo et al. Journal of clinical medicine 2022 11(4)
Newborn Screening
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Factors associated with maternal consent for use of residual newborn bloodspots in the National Birth Defects Prevention Study.
Wong Eugene C et al. Birth defects research 2022 -
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi Ahmed H et al. Medicina (Kaunas, Lithuania) 2022 58(2)
Pharmacogenomics
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Pilot Findings of Pharmacogenomics in Perioperative Care: Initial Results From the First Phase of the ImPreSS Trial.
Truong Tien M et al. Anesthesia and analgesia 2022 -
Implementing Pre-Therapeutic UGT1A1 Genotyping in Clinical Practice: A Real-Life Study.
Personeni Nicola et al. Journal of personalized medicine 2022 12(2) -
RS4673 and pon1 level in blood plasma - new prospects in prediction and early diagnostics of anthracycline-mediated cardiotoxicity.
Gvaldin D Yu et al. Klinicheskaia laboratornaia diagnostika 2022 67(2) 123-128 -
Methylomic Biomarkers of Lithium Response in Bipolar Disorder: A Proof of Transferability Study.
Marie-Claire Cynthia et al. Pharmaceuticals (Basel, Switzerland) 2022 15(2) -
Clinical Opportunities for Germline Pharmacogenetics and Management of Drug-Drug Interactions in Patients With Advanced Solid Cancers.
Shugg Tyler et al. JCO precision oncology 2022 6e2100312 -
Upfront DPYD Genotyping and Toxicity Associated with Fluoropyrimidine-Based Concurrent Chemoradiotherapy for Oropharyngeal Carcinomas: A Work in Progress.
Desilets Antoine et al. Current oncology (Toronto, Ont.) 2022 29(2) 497-509 -
Pharmacogenomics Implementation and Hurdles to Overcome; In the Context of a Developing Country.
Ayati Nayyereh et al. Iranian journal of pharmaceutical research : IJPR 2022 20(4) 92-106 -
CYP2D6 Genetic Variation and Antipsychotic-Induced Weight Gain: A Systematic Review and Meta-Analysis.
Wannasuphoprasit Yanisa et al. Frontiers in psychology 2022 12768748 -
Assessment of a Manual Method versus an Automated, Probability-Based Algorithm to Identify Patients at High Risk for Pharmacogenomic Adverse Drug Outcomes in a University-Based Health Insurance Program.
Grande Kendra J et al. Journal of personalized medicine 2022 12(2)
Reproductive Health
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Expanded carrier screening in the United States: A systematic evidence review exploring client and provider experiences.
Ramdaney Aarti et al. Journal of genetic counseling 2022