News and Publications
Birth Defects and Child Health
Pain Characteristics and Symptom Management in Children with Hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder.
Jeong Hyo-Jung et al. Physical & occupational therapy in pediatrics 2023 1-14
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Dekker Jordy et al. American journal of human genetics 2023
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.
Viggiano Emanuela et al. Genes 2023 14(1)
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer.
Bupp Caleb P et al. Children (Basel, Switzerland) 2023 10(1)
RNA sequencing of blood from sex- and age-matched discordant siblings supports immune and transcriptional dysregulation in autism spectrum disorder.
Tomaiuolo Pasquale et al. Scientific reports 2023 13(1) 807
Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.
Varadi Melinda et al. Cancer medicine 2023
Optimizing molecular testing of lung cancer needle biopsy specimens: potential solutions from an interdisciplinary qualitative study.
Fintelmann Florian J et al. Respiratory research 2023 24(1) 17
Durable responders in advanced NSCLC with elevated TMB and treated with 1L immune checkpoint inhibitor: a real-world outcomes analysis.
Huang Richard S P et al. Journal for immunotherapy of cancer 2023 11(1)
Molecular Landscape and Validation of New Genomic Classification in 2668 Adult AML Patients: Real Life Data from the PETHEMA Registry.
Sargas Claudia et al. Cancers 2023 15(2)
The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.
Jin Yan et al. Journal of oncology 2023 20233801526
DNAH7 mutations benefit colorectal cancer patients receiving immune checkpoint inhibitors.
Yang Wenjuan et al. Annals of translational medicine 2023 10(24) 1335
Cost-effectiveness of immune checkpoint inhibition and targeted treatment in combination as adjuvant treatment of patient with BRAF-mutant advanced melanoma.
Li Si Ni et al. BMC health services research 2023 23(1) 49
Gene therapy for liver diseases - progress and challenges.
Zabaleta Nerea et al. Nature reviews. Gastroenterology & hepatology 2023
Health in Our Hands: diabetes and substance use education through a new genomic framework for schools and communities.
Modell Stephen M et al. Journal of community genetics 2023 1-15
Gene burden analysis identifies genes associated with increased risk and severity of adult-onset hearing loss in a diverse hospital-based cohort.
Hui Daniel et al. PLoS genetics 2023 19(1) e1010584
Risk Variants in or Near ZBTB40 AND NFATC1 Increase the Risk of Both IBD and Adverse Bone Health Outcomes Highlighting Common Genetic Underpinnings Across Both Diseases.
Cushing Kelly C et al. Inflammatory bowel diseases 2023
Ethical, Legal and Social Issues
Attitudes and beliefs regarding race-targeted genetic testing of Black people: A systematic review.
Iltis Ana S et al. Journal of genetic counseling 2023
Genome Editing in Human Gametes and Embryos: The Legal Dimension in Europe.
Vidalis Takis et al. Biotech (Basel (Switzerland)) 2023 12(1)
Machine Learning and Health Care: Potential Benefits and Issues.
Atkinson J Graham et al. The Journal of ambulatory care management 2023
Comparison of genetic testing documentation between genetic counselors and non-genetic counselors.
Feldman Jessica et al. Journal of genetic counseling 2023
Heart, Lung, Blood and Sleep
Cardiovascular disease onset in old people with severe hypercholesterolemia.
Coutinho Elaine R et al. Atherosclerosis 2023 3659-14
Diagnosis of Familial Dysbetalipoproteinemia Based on the Lipid Abnormalities Driven by APOE2/E2 Genotype.
Bea Ana M et al. Clinical chemistry 2023
Role of an automated screening tool for familial hypercholesterolemia in patients with premature coronary artery disease.
Jokiniitty Antti et al. Atherosclerosis plus 2023 481-7
Polygenic risk score for hypercholesterolemia in a Brazilian familial hypercholesterolemia cohort.
Lima Isabella Ramos et al. Atherosclerosis plus 2023 4947-55
Burden of cardiovascular disease in a large contemporary cohort of patients with heterozygous familial hypercholesterolemia.
Ferrières Jean et al. Atherosclerosis plus 2023 5017-24
How does cholesterol burden change the case for investing in familial hypercholesterolaemia? A cost-effectiveness analysis.
Faria Rita et al. Atherosclerosis 2023
How to translate and implement the current science of gene therapy into haemophilia care?
Hermans Cedric et al. Therapeutic advances in hematology 2023 1420406207221145627
Combining European and U.S. risk prediction models with polygenic risk scores to refine cardiovascular prevention: the CoLaus|PsyCoLaus Study.
de La Harpe Roxane et al. European journal of preventive cardiology 2023
Prevalence of Diabetes and Its Association with Atherosclerotic Cardiovascular Disease Risk in Patients with Familial Hypercholesterolemia: An Analysis from the Hellenic Familial Hypercholesterolemia Registry (HELLAS-FH).
Boutari Chrysoula et al. Pharmaceuticals (Basel, Switzerland) 2023 16(1)
Clinical performance of MRI & biomarkers for prostate cancer diagnosis in men at high genetic risk.
Cussenot Olivier et al. BJU international 2023
Occurrence of variants of unknown clinical significance in genetic testing for hereditary breast and ovarian cancer syndrome and Lynch syndrome: a literature review and analytical observational retrospective cohort study.
Adam Felicia et al. BMC medical genomics 2023 16(1) 7
MyLynch: A Patient-Facing Clinical Decision Support Tool for Genetically-Guided Personalized Medicine in Lynch Syndrome.
Knapp Stephen T et al. Cancers 2023 15(2)
Economic value of knowing BRCA status: BRCA testing for prostate cancer prevention and optimal treatment.
Oh Mok et al. Expert review of pharmacoeconomics & outcomes research 2023
Implementation of a Telehealth Genetic Testing Station to Deliver Germline Testing for Men With Prostate Cancer.
Kwon Daniel H et al. JCO oncology practice 2023 OP2200638
Relative Risk of Bladder and Kidney Cancer in Lynch Syndrome: Systematic Review and Meta-Analysis.
Nassour Anthony-Joe et al. Cancers 2023 15(2)
Long-term risk of cancer among the first-degree relatives of epithelial ovarian cancer patients: A cohort study with 48 years of follow up.
Kotaniemi-Talonen Laura et al. Acta obstetricia et gynecologica Scandinavica 2023
Development and early-stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient-driven approach.
Pollard Samantha et al. Health expectations : an international journal of public participation in health care and health policy 2023
Guideline-Based, Multi-Gene Panel Germline Genetic Testing for at-Risk Patients with Breast Cancer.
Abdel-Razeq Hikmat et al. Breast cancer (Dove Medical Press) 2023 151-10
Factors that influence the management recommendations breast surgeons provide to women with pathogenic variants in moderate penetrance breast cancer susceptibility genes.
Vanderwal April et al. Journal of genetic counseling 2023
Stagnation in quality of next-generation sequencing assays for the diagnosis of hereditary hematopoietic malignancies.
Roloff Gregory W et al. Journal of genetic counseling 2023
Predictors of Women's Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members.
Winskill Carolyn et al. Public health genomics 2023
EBCC-13 manifesto: Balancing pros and cons for contralateral prophylactic mastectomy.
Schmidt Marjanka K et al. European journal of cancer (Oxford, England : 1990) 2023 18179-91
Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis.
Baroutsou Vasiliki et al. JMIR formative research 2023 7e38399
Usefulness of podcasts to provide public education on prostate cancer genetics.
Loeb Stacy et al. Prostate cancer and prostatic diseases 2023
Clinical Cancer and Direct-to-Consumer Genetic Test Result-Sharing Behavior: Findings from HINTS 2020.
Makhnoon Sukh et al. Journal of personalized medicine 2023 13(1)
Newborn screening for spinal muscular atrophy in Australia: a non-randomised cohort study.
Kariyawasam Didu S et al. The Lancet. Child & adolescent health 2023
A comprehensive study of mutations in PAH, QDPR, PTS, and PCD genes in Iranian patients with Hyperphenylalaninemia; A systematic review.
Ghanei Mahmoud et al. Human heredity 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Mak Justin et al. Journal of inherited metabolic disease 2023
Highlights of 2022 and looking forward to 2023 at Pharmacogenomics.
Jones Sarah et al. Pharmacogenomics 2023
Application of Pharmacogenomics Testing in a Community-based Facility.
Wang Jingyi et al. Hospital pharmacy 2023 58(1) 98-105
Harnessing the Power of Electronic Health Records and Genomics for Drug Discovery.
Krebs Kristi et al. Annual review of pharmacology and toxicology 2023 6365-76
Accuracy of Non-Invasive Prenatal Testing for Duchenne Muscular Dystrophy in Families at Risk: A Systematic Review.
Zaninovic Luca et al. Diagnostics (Basel, Switzerland) 2023 13(2)