Published on 01/20/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
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Comparison of diagnostic criteria for children with familial Mediterranean fever.
Akyol Onder Esra Nagehan et al. European journal of pediatrics 2022 -
Risk Factors for Treatment Refractory and Relapsed Optic Pathway Glioma in Children with Neurofibromatosis Type 1.
Kotch Chelsea et al. Neuro-oncology 2022 -
An appraisal of the frequency and severity of non-infectious manifestations in primary immunodeficiencies. A study of a national retrospective cohort of 1375 patients over 10 years.
Alligon Mickaël et al. The Journal of allergy and clinical immunology 2022 -
Parental knowledge about familial Mediterranean fever: a cross-sectional study.
Yildirim Deniz Gezgin et al. The Turkish journal of pediatrics 2022 63(6) 1048-1055 -
Efficacy of Different Diagnostic Test for Identifying Wilson's Disease.
Sonia Z F et al. Mymensingh medical journal : MMJ 2022 31(1) 117-123
Cancer Genomics
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Accounting for EGFR mutations in epidemiological analyses of non-small cell lung cancers: Examples based on the International Lung Cancer Consortium data.
Schmid Sabine et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 -
Reflex testing in non-small cell lung carcinoma using DNA- and RNA-based next-generation sequencing-a single-center experience.
Zacharias Martin et al. Translational lung cancer research 2022 10(11) 4221-4234 -
Clinical outcomes of lung adenocarcinoma patients harboring uncommon epidermal growth factor receptor (EGFR) mutations treated with EGFR-tyrosine kinase inhibitors (TKIs).
Si Jinfei et al. Annals of palliative medicine 2022 -
Development and validation of Pyroptosis‑related lncRNAs prediction model for bladder cancer.
Lia Thongher et al. Bioscience reports 2022 -
Clinical Reliability of Genomic Data Obtained from Spinal Metastatic Tumor Samples.
Barzilai Ori et al. Neuro-oncology 2022 -
Association of circulating leukocyte telomere length with survival in patients with colorectal cancer.
Pauleck Svenja et al. Journal of geriatric oncology 2022 -
Molecular Profiling and Novel Therapeutic Strategies for Mucosal Melanoma: A Comprehensive Review.
Indini Alice et al. International journal of molecular sciences 2022 23(1) -
Biomarker Testing in Older Patients Treated for an Advanced or Metastatic Non-Squamous Non-Small-Cell Lung Cancer: The French ESME Real-Life Multicenter Cohort Experience.
Lamy Tina et al. Cancers 2022 14(1) -
Prognostic value of low-level MRD in adult acute lymphoblastic leukemia detected by low- and high-throughput methods.
Kotrova Michaela et al. Blood advances 2022 -
Up to 6.5 years (median 4 years) of follow-up of first-line ibrutinib in patients with chronic lymphocytic leukemia/small lymphocytic lymphoma and high-risk genomic features: integrated analysis of two phase 3 studies.
Burger Jan A et al. Leukemia & lymphoma 2022 1-12 -
[The value of molecular testing of thyroid aspirates].
Chijioke O et al. Der Pathologe 2022
Hereditary Cancer
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Validation of Breast Cancer Risk Models by Race/Ethnicity, Family History and Molecular Subtypes.
McCarthy Anne Marie et al. Cancers 2022 14(1) -
Prevalence and Predictors of Young-Onset Colorectal Neoplasia: Insights from a Nationally Representative Colonoscopy Registry.
Trivedi Parth D et al. Gastroenterology 2022 -
Prevalence of pathogenic germline cancer risk variants in testicular cancer patients: Identifying high risk groups.
Ramamurthy Chethan et al. Urologic oncology 2022 -
Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline.
Kratz Christian Peter et al. Geburtshilfe und Frauenheilkunde 2022 82(1) 42-49 -
Risk assessment and genetic counseling for Lynch syndrome - Practice resource of the National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Gastrointestinal Cancer.
Holter Spring et al. Journal of genetic counseling 2022 -
Prospective evaluation of a breast-cancer risk model integrating classical risk factors and polygenic risk in 15 cohorts from six countries.
Hurson Amber N et al. International journal of epidemiology 2022 50(6) 1897-1911 -
Brief family history questionnaire to screen for Lynch syndrome in women with newly diagnosed non-serous, non-mucinous ovarian cancers.
Kim Soyoun Rachel et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2022 -
Helix: A Digital Tool to Address Provider Needs for Prostate Cancer Genetic Testing in Clinical Practice.
Giri Veda N et al. Clinical genitourinary cancer 2022 -
YouTube as an information source on BRCA mutations: implications for patients and professionals.
Laforet Priscila E et al. Journal of community genetics 2022 -
Hospital-based ovarian cancer patient traceback program results in minimal genetic testing uptake.
Weinmann Simone et al. Gynecologic oncology 2022 -
Universal Germline Panel Testing for Individuals with Pheochromocytoma and Paraganglioma Produces High Diagnostic Yield.
Horton Carolyn et al. The Journal of clinical endocrinology and metabolism 2022 -
Risk Stratification for Early-Onset Colorectal Cancer Using a Combination of Genetic and Environmental Risk Scores: An International Multi-Center Study.
Archambault Alexi N et al. Journal of the National Cancer Institute 2022 -
Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice.
Czekalski Megan A et al. JCO precision oncology 2022 6e2100409
Chronic Disease
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Translational Study of Copy Number Variations in Schizophrenia.
Cheng Min-Chih et al. International journal of molecular sciences 2022 23(1)
Ethics/Policy/Law
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Advocating for equitable management of hereditary cancer syndromes.
Caffrey Rikki Gaber et al. Journal of genetic counseling 2022
Practice
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A Systematic Review and Recommendations Around Frameworks for Evaluating Scientific Validity in Nutritional Genomics.
Keathley Justine et al. Frontiers in nutrition 2022 8789215 -
Assessing Medical Students' Knowledge of Genetics: Basis for Improving Genetics Curriculum for Future Clinical Practice.
Alotaibi Amal A et al. Advances in medical education and practice 2022 121521-1530 -
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura Hirokazu et al. eLife 2022 11 -
Identification of the interactions between specific genetic polymorphisms and nutrient intake associated with general and abdominal obesity in middle-aged adults.
Kwon Yu-Jin et al. Clinical nutrition (Edinburgh, Scotland) 2022 41(2) 543-551 -
Polygenic transcriptome risk scores (PTRS) can improve portability of polygenic risk scores across ancestries.
Liang Yanyu et al. Genome biology 2022 23(1) 23 -
A multi-environments-gene interaction study of anxiety, depression and self-harm in the UK Biobank cohort.
Li Chun'e et al. Journal of psychiatric research 2022 14759-66
Heart, Lung, Blood and Sleep Diseases
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Genetic Risk Score Enhances Coronary Artery Disease Risk Prediction in Individuals With Type 1 Diabetes.
Lithovius Raija et al. Diabetes care 2022 -
Cascade testing for inherited arrhythmia conditions: Experiences and attitudes of family communication approaches for a Canadian cohort.
Ho Amy et al. Journal of genetic counseling 2022 -
Asian Pacific Society of Cardiology Consensus Recommendations on Dyslipidaemia.
Koh Natalie et al. European cardiology 2022 16e54 -
Oral postmenopausal hormone therapy and genetic risk on venous thromboembolism: gene-hormone interaction results from a large prospective cohort study.
Kim Jihye et al. Menopause (New York, N.Y.) 2022 -
Revisiting a diagnosis of cystic fibrosis - Uncertainties and considerations.
Balfour-Lynn I M et al. Paediatric respiratory reviews 2022 -
Health-related quality of life in homozygous familial hypercholesterolemia: A systematic review and meta-analysis.
Alothman Latifah et al. Journal of clinical lipidology 2022
Newborn Screening
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Newborn Hearing Screening Benefits Children, but Global Disparities Persist.
Neumann Katrin et al. Journal of clinical medicine 2022 11(1) -
Clinicians' Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss.
Notini Lauren et al. Journal of clinical medicine 2022 11(1)
Pharmacogenomics
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Changing from mandatory to optional genotyping results in higher acceptance of pharmacist-guided warfarin dosing.
Zolekar Ashwini et al. Pharmacogenomics 2022 23(2) 85-95
Reproductive Health
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A framework for reporting secondary and incidental findings in prenatal sequencing: when and for whom?
Vears Danya et al. Prenatal diagnosis 2022 -
A systematic review of the views of healthcare professionals on the scope of preimplantation genetic testing.
Siermann Maria et al. Journal of community genetics 2022 -
Clinical utility of expanded NIPT for chromosomal abnormalities and etiology analysis of cytogenetic discrepancies cases.
Hu Yue et al. Journal of assisted reproduction and genetics 2022