Published on 04/21/2022
Human Genomics across the Lifespan
Birth Defects and Child Health
-
Thrombosis Risk History and D-dimer Levels in Asymptomatic Individuals with Prader-Willi Syndrome.
Matesevac Lisa et al. Journal of clinical medicine 2022 11(7) -
The genetic factors contributing to the risk of cleft lip-cleft palate and their clinical utility.
Askarian Saeedeh et al. Oral and maxillofacial surgery 2022 -
Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab.
Sandy Jessica L et al. Journal of paediatrics and child health 2022 -
A Decade of Progress in Gene Targeted Therapeutic Strategies in Duchenne Muscular Dystrophy: A Systematic Review.
Chung Liang Lam et al. Frontiers in bioengineering and biotechnology 2022 10833833 -
Parental Guidance Suggested: Engaging Parents as Partners in Research Studies of Genomic Screening for a Pediatric Population.
Powell Sabrina N et al. Frontiers in genetics 2022 13867030
Cancer Genomics
-
The Fagerström and AUDIT Tests as Probable Screening Tools in Oral Cancer and Their Correlation with CYP1A1, GSTM1, GSTP1, and GSTT1 Gene Expression.
Bandeira Celso Muller et al. International journal of environmental research and public health 2022 19(7) -
ENPP2 Promoter Methylation Correlates with Decreased Gene Expression in Breast Cancer: Implementation as a Liquid Biopsy Biomarker.
Panagopoulou Maria et al. International journal of molecular sciences 2022 23(7) -
WT1 Gene Mutations, rs16754 Variant, and WT1 Overexpression as Prognostic Factors in Acute Myeloid Leukemia Patients.
Koczkodaj Dorota et al. Journal of clinical medicine 2022 11(7) -
Value of the 21-gene expression assay in predicting locoregional recurrence rates in estrogen receptor-positive breast cancer: a systematic review and network meta-analysis.
Davey Matthew G et al. Breast cancer research and treatment 2022 -
Genomic Analysis of Tumors from Patients with Glioblastoma with Long-Term Response to Afatinib.
Owen Scott et al. OncoTargets and therapy 2022 15367-380 -
Daily Practice Assessment of KRAS Status in NSCLC Patients: A New Challenge for the Thoracic Pathologist Is Right around the Corner.
Bontoux Christophe et al. Cancers 2022 14(7) -
Repeat Fine-Needle Aspiration With Molecular Analysis in Management of Indeterminate Thyroid Nodules.
Papazian Michael R et al. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2022 1945998221093527 -
Integrated analysis of single-cell RNA-seq dataset and bulk RNA-seq dataset constructs a prognostic model for predicting survival in human glioblastoma.
Lai Wenwen et al. Brain and behavior 2022 e2575 -
Long-Term Real-World Outcomes of First-Line Pembrolizumab Monotherapy for Metastatic Non-Small Cell Lung Cancer With ≥50% Expression of Programmed Cell Death-Ligand 1.
Velcheti Vamsidhar et al. Frontiers in oncology 2022 12834761
Hereditary Cancer
-
Demographic Differences Among US Department of Veterans Affairs Patients Referred for Genetic Consultation to a Centralized VA Telehealth Program, VA Medical Centers, or the Community.
Scheuner Maren T et al. JAMA network open 2022 5(4) e226687 -
Expansion of Cancer Risk Profile for BRCA1 and BRCA2 Pathogenic Variants.
Momozawa Yukihide et al. JAMA oncology 2022 -
Uptake Rates of Risk-Reducing Surgeries for Women at Increased Risk of Hereditary Breast and Ovarian Cancer Applied to Cost-Effectiveness Analyses: A Scoping Systematic Review.
Simões Corrêa Galendi Julia et al. Cancers 2022 14(7) -
Tumor BRCA Testing in Epithelial Ovarian Cancers: Past and Future-Five-Years' Single-Institution Experience of 762 Consecutive Patients.
Fumagalli Caterina et al. Cancers 2022 14(7) -
Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort.
Sarki Mahesh et al. Cancers 2022 14(7) -
Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.
Ercoskun Pelin et al. Molecular syndromology 2022 13(2) 123-131 -
Reflex BRCA1 and BRCA2 tumour genetic testing for high-grade serous ovarian cancer: streamlined for clinicians but what do patients think?
McCuaig Jeanna M et al. Hereditary cancer in clinical practice 2022 20(1) 15 -
Rates of Variants of Uncertain Significance Among Patients With Breast Cancer Undergoing Genetic Testing: Regional Perspectives.
Abdel-Razeq Hikmat et al. Frontiers in oncology 2022 12673094 -
Assessment of psychosocial difficulties by genetic clinicians and distress in women at high risk of breast cancer: a prospective study.
Brédart Anne et al. European journal of human genetics : EJHG 2022 -
Demographic Barriers for Genetic Testing in High-Risk Breast Cancer Patients in the Northern Michigan Area.
Hebert Danielle et al. Cureus 2022 14(3) e22966
Chronic Disease
-
Tau polygenic risk scoring: a cost-effective aid for prognostic counseling in Alzheimer's disease.
Ramanan Vijay K et al. Acta neuropathologica 2022
Ethics/Policy/Law
-
Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine.
Clarke A J et al. Human genetics 2022
Practice
-
What Is a Variant of Uncertain Significance in Genetic Testing?
Nicolosi Piper et al. European urology focus 2022 -
IPRS: Leveraging Gene-Environment Interaction to Reconstruct Polygenic Risk Score.
Tang Yingdan et al. Frontiers in genetics 2022 13801397
Heart, Lung, Blood and Sleep Diseases
-
shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.
Cócera-Ortega Lucía et al. International journal of molecular sciences 2022 23(7) -
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
Ngole Mamy et al. Journal of clinical laboratory analysis 2022 e24398 -
Clinical and Genetic Evaluation of People with or at Risk of Hereditary ATTR Amyloidosis: An Expert Opinion and Consensus on Best Practice in Ireland and the UK.
Gillmore Julian D et al. Advances in therapy 2022 -
Motivating cascade testing for familial hypercholesterolemia: applying the extended parallel process model for clinician communication.
Campbell-Salome Gemme et al. Translational behavioral medicine 2022 -
Targeting fetal hemoglobin expression to treat β hemoglobinopathies.
Steinberg Martin H et al. Expert opinion on therapeutic targets 2022 -
Strategies to increase access to basic sickle cell disease care in low- and middle-income countries.
Dua Meghna et al. Expert review of hematology 2022 1-12 -
Prevalence and Patient Outcomes of Adult Primary Hypercholesterolemia and Dyslipidemia in the UK: Longitudinal Retrospective Study Using a Primary Care Dataset from 2009 to 2019.
Bilitou Aikaterini et al. ClinicoEconomics and outcomes research : CEOR 2022 14189-203
Newborn Screening
-
Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner Katharina et al. Cells 2022 11(7)
Pharmacogenomics
-
Impact of DNA methylation on ADME gene expression, drug disposition and efficacy.
Hao Xu et al. Drug metabolism reviews 2022 1-22 -
Impact of the ABCD-GENE Score on Clopidogrel Clinical Effectiveness after PCI: A Multi-site, Real-world Investigation.
Thomas Cameron D et al. Clinical pharmacology and therapeutics 2022
Reproductive Health
-
IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study.
Barad D H et al. Human reproduction (Oxford, England) 2022 -
Whole-exome sequencing in patients with maturation arrest: a potential additional diagnostic tool for prevention of recurrent negative testicular sperm extraction outcomes.
Ghieh F et al. Human reproduction (Oxford, England) 2022 -
Preimplantation genetic testing in patients with genetic susceptibility to cancer.
Villy Marie-Charlotte et al. Familial cancer 2022