Published on 02/16/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Childhood Maltreatment and DNA Methylation: A Systematic Review.
Mackenzie Rubens et al. Neuroscience and biobehavioral reviews 2023 105079 -
Role of genomic medicine and implementing equitable access for critically ill infants in neonatal intensive care units.
Alissa M D'Gama et al. Journal of perinatology : official journal of the California Perinatal Association 2023 1-5 -
Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.
Tom Alix et al. Human genomics 2023 17(1) 5 -
Clinical Utility of Exome Sequencing in a Pediatric Epilepsy Cohort.
Jordana L Graifman et al. Epilepsia 2023
Cancer Genomics
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Clinical Utility of Comprehensive Genomic Profiling in Patients with Unresectable Hepatocellular Carcinoma.
Shun Ishido et al. Cancers 2023 15(3) -
Genome tumor profiling in endometrial cancer and clinical relevance in endometrial cancer management: a retrospective single-center experience.
Vanda Salutari et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2023 -
Does the likelihood of malignancy in thyroid nodules with RAS mutations increase in direct proportion with the allele frequency percentage?
Thomas J Hudson et al. Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale 2023 52(1) 12 -
Minimizing sample failure rates for challenging clinical tumor samples.
J Lynn Fink et al. The Journal of molecular diagnostics : JMD 2023 -
Adjuvant Chemotherapy De-Escalation with Genomic Assay Protocol in Patients with Early Breast Cancer: A Single-Centre Prospective Cohort Study.
Diogo Martins-Branco et al. Acta medica portuguesa 2023 -
Lower Expression of CFTR Is Associated with Higher Mortality in a Meta-Analysis of Individuals with Colorectal Cancer.
Patricia Scott et al. Cancers 2023 15(3) -
Utility of Comprehensive Genomic Profiling Tests for Patients with Incurable Pancreatic Cancer in Clinical Practice.
Takuo Yamai et al. Cancers 2023 15(3) -
The Rochester Modified Magee Algorithm (RoMMa): An Outcomes Based Strategy for Clinical Risk-Assessment and Risk-Stratification in ER Positive, HER2 Negative Breast Cancer Patients Being Considered for Oncotype DX Testing.
Bradley M Turner et al. Cancers 2023 15(3) -
Is There a Role for Molecular Testing for Low-Risk Differentiated Thyroid Cancer? A Cost-Effectiveness Analysis.
Idit Tessler et al. Cancers 2023 15(3) -
Prognostic Value of Low-Pass Whole Genome Sequencing of Circulating Tumor DNA in Metastatic Castration-Resistant Prostate Cancer.
Maibritt Nørgaard et al. Clinical chemistry 2023 -
Adherence Disparities and Utilization Trends of Oncotype DX Assay: A National Cancer Database Study.
Shuyi Chen et al. The Journal of surgical research 2023 28665-73 -
Evaluation and comparison of different breast cancer prognosis scores based on gene expression data.
Avirup Chowdhury et al. Breast cancer research : BCR 2023 25(1) 17 -
A Rapid, Shallow Whole Genome Sequencing Workflow Applicable to Limiting Amounts of Cell-Free DNA.
Rebecca C Allsopp et al. Clinical chemistry 2023 -
Utility of public knowledge bases for the interpretation of comprehensive tumor molecular profiling results.
Alexandra Lebedeva et al. Clinical and experimental medicine 2023
Hereditary Cancer
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The Michigan Genetic Hereditary Testing (MiGHT) study's innovative approaches to promote uptake of clinical genetic testing among cancer patients: a study protocol for a 3-arm randomized controlled trial.
Lynette Hammond Gerido et al. Trials 2023 24(1) 105 -
Endoscopic Papillectomy for Ampullary Lesions in patients with Familial Adenomatous Polyposis compared to sporadic lesions in a propensity-score matched cohort.
Kien Vu Trung et al. Endoscopy 2023 -
Clinical Factors Associated with Skin Neoplasms in Individuals with Lynch Syndrome in a Longitudinal Observational Cohort.
Connie S Zhong et al. Journal of the American Academy of Dermatology 2023 -
Germline predisposition to haematological malignancies: Best practice consensus guidelines from the UK Cancer Genetics Group (UKCGG), CanGene-CanVar and the NHS England Haematological Oncology Working Group.
Beverley Speight et al. British journal of haematology 2023 -
Genetic Predisposition to Colorectal Cancer: How Many and Which Genes to Test?
Francesca Rebuzzi et al. International journal of molecular sciences 2023 24(3) -
Coping Self-Efficacy and Its Relationship with Psychological Morbidity after Genetic Test Result Disclosure: Results from Cancer-Unaffected BRCA1/2 Mutation Carriers.
Anna Isselhard et al. International journal of environmental research and public health 2023 20(3) -
Is Reflex Germline BRCA1/2 Testing Necessary in Women Diagnosed with Non-Mucinous High-Grade Epithelial Ovarian Cancer Aged 80 Years or Older?
Robert D Morgan et al. Cancers 2023 15(3) -
Population-based BRCA1/2 testing programmes are highly acceptable in the Jewish community: results of the JeneScreen Study.
Jane M Tiller et al. Journal of medical genetics 2023 -
High prevalence of MUTYH associated polyposis among minority populations in Israel, due to rare founder pathogenic variants.
Gili Reznick Levi et al. Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver 2023 -
Measuring high-risk parents' opinions about direct-to-consumer genetic testing for adult-onset inherited cancer syndromes in their adolescent and young adult children.
Emily Hasser et al. Journal of genetic counseling 2023 -
Role of psychological background in cancer susceptibility genetic testing distress: It is not only about a positive result.
Adrià López-Fernández et al. Journal of genetic counseling 2023 -
Germline pathogenic variants in 786 neuroblastoma patients.
Jung Kim et al. medRxiv : the preprint server for health sciences 2023 -
Clinical and laboratory genetic counselor attitudes on the reporting of variants of uncertain significance for multigene cancer panels.
Emmeline Y Chang et al. Journal of genetic counseling 2023
Chronic Disease
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Type 2 Diabetes Mellitus and its comorbidity, Alzheimer's disease: Identifying critical microRNA using machine learning.
Hind Alamro et al. Frontiers in endocrinology 2023 131084656 -
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
Francesca Becherucci et al. Journal of the American Society of Nephrology : JASN 2023
Ethics/Policy/Law
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Re-envisioning community genetics: community empowerment in preventive genomics.
Hannah Wand et al. Journal of community genetics 2023 -
"Development and Implementation of Novel Chatbot-based Genomic Research Consent".
Erica D Smith et al. bioRxiv : the preprint server for biology 2023 -
Global health and global governance of emerging biomedical technologies.
Bryan Cwik et al. Journal of medical ethics 2023
Practice
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Non-genetic physicians' knowledge, attitudes and behavior towards medical genetics.
Tea Mladenic et al. Wiener klinische Wochenschrift 2023 -
Traffic-Related Air Pollution and Ground-Level Ozone Associated Global DNA Hypomethylation and Bulky DNA Adduct Formation.
Armelle Munnia et al. International journal of molecular sciences 2023 24(3) -
High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Francesca Marini et al. European journal of endocrinology 2023 188(1) -
Genomics of Obsessive-Compulsive Disorder and Related Disorders: What the Clinician Needs to Know.
James J Crowley et al. The Psychiatric clinics of North America 2023 46(1) 39-51 -
Practical Considerations for Reinterpretation of Individual Genetic Variants.
Paul S Appelbaum et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100801 -
Child and Adolescent Psychiatrists' Use, Attitudes, and Understanding of Genetic Tests in Clinical Practice.
Takahiro Soda et al. medRxiv : the preprint server for health sciences 2023 -
Building Capacity for Implementation Science in Precision Health and Society: Development of a Course for Professional and Graduate Students in Pharmacy.
Megan C Roberts et al. Journal of personalized medicine 2022 12(9)
Heart, Lung, Blood and Sleep Diseases
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Impact of SERPINC1 mutation on thrombotic phenotype in children with congenital antithrombin deficiency - first analysis of the International Society on Thrombosis and Haemostasis (ISTH) Pediatric Antithrombin Deficiency Database and Biorepository.
Riten Kumar et al. Journal of thrombosis and haemostasis : JTH 2023 -
Efficacy and safety of pharmacological interventions for managing sickle cell disease in children and adolescents: protocol for a systematic review with network meta-analysis.
Fernanda S Tonin et al. BMJ open 2023 13(2) e064872 -
Opportunistic Genetic Screening for Familial Hypercholesterolemia in Heart Transplant Patients.
María Salgado et al. Journal of clinical medicine 2023 12(3) -
Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.
Andrea Aparicio et al. Journal of clinical medicine 2023 12(3) -
A Framework for a Health Economic Evaluation Model for Patients with Sickle Cell Disease to Estimate the Value of New Treatments in the United States of America.
Aaron Winn et al. PharmacoEconomics - open 2023 -
Prediction of Heart and Liver Iron Overload in β-Thalassemia Major Patients Using Machine Learning Methods.
Naeimehossadat Asmarian et al. Hemoglobin 2023 1-5 -
Screening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system.
Walter Masson et al. Archives of endocrinology and metabolism 2023 -
Approaches to Genetic Screening in Cardiomyopathies: Practical Guidance for Clinicians.
Amy R Kontorovich et al. JACC. Heart failure 2023 11(2) 133-142
Newborn Screening
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[Analysis of genotypes on 850 newborns with SLC26A4 single-allele mutation and the phenotypes of those with second variant].
L H Huang et al. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2023 58(2) 117-125
Pharmacogenomics
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Integration of a pharmacist-led pharmacogenomic service in a geriatric clinic: Barriers and outcomes.
Alayna M Kehr et al. Journal of the American Pharmacists Association : JAPhA 2023 -
Updates on the immunopathology and genomics of severe cutaneous adverse drug reactions.
Andrew Gibson et al. The Journal of allergy and clinical immunology 2023 151(2) 289-300.e4 -
Targeted next-generation sequencing of genes involved in Warfarin Pharmacodynamics and pharmacokinetics pathways using the Saudi Warfarin Pharmacogenetic study (SWAP).
Maha Al Ammari et al. The pharmacogenomics journal 2023 -
Genetic Risk Score Improves Risk Stratification for Anticoagulation-Related Intracerebral Hemorrhage.
Ernst Mayerhofer et al. Stroke 2023 -
Pharmacogenomics in Asians: differences and similarities with other human populations.
Mohitosh Biswas et al. Expert opinion on drug metabolism & toxicology 2023
Reproductive Health
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Reproductive deliberation: Supporting autonomous decision making in prenatal genetic counseling.
Chanelle Warton et al. Journal of genetic counseling 2023 -
Combined fetal fraction to analyze the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18, and 21.
Jiexia Yang et al. Journal of assisted reproduction and genetics 2023 -
The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases.
Jiajie Tang et al. International journal of environmental research and public health 2023 20(3) -
Combined first trimester screening for trisomy 21: assessment of excess risk in case of free ß-human Chorionic Gonadotrophin between 5 and 10 Multiples of the Median.
Anthony Atallah et al. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 -
Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples.
Arian Khorshid et al. Journal of assisted reproduction and genetics 2023 -
Expanded carrier screening for reproductive risk assessment: An evidence-based practice guideline from the National Society of Genetic Counselors.
Katelynn G Sagaser et al. Journal of genetic counseling 2023