News and Publications
Birth Defects and Child Health
Prenatal diagnosis and genetic etiology analysis of talipes equinovarus by chromosomal microarray analysis.
Xiaorui Xie et al. BMC Med Genomics 2023 16(1) 298
Whole genome analysis of rare deleterious variants adds further evidence to BRSK2 and other risk genes in Autism Spectrum Disorder.
Elena Bacchelli et al. Res Sq 2023
The Lived Experience of Pediatric Gene Therapy - A Scoping Review.
Laura Kimberly et al. Hum Gene Ther 2023
Validation and cross-cultural adaptation of the Italian version of the paediatric eating assessment tool (I-PEDI-EAT-10) in genetic syndromes.
Roberta Onesimo et al. Int J Lang Commun Disord 2023
Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.
Mario Cesare Nurchis et al. Eur J Health Econ 2023
Molecular Diagnostic Yield of Exome Sequencing in Patients With Congenital Hydrocephalus: A Systematic Review and Meta-Analysis.
Ana B W Greenberg et al. JAMA Netw Open 2023 6(11) e2343384
Cost-Effectiveness of Liquid Biopsy for Colorectal Cancer Screening in Patients Who Are Unscreened.
Zainab Aziz et al. JAMA Netw Open 2023 6(11) e2343392
Effect of human epidermal growth factor receptor 2 overexpression in metastatic colorectal cancer on standard chemotherapy outcomes.
Jae Yeon Jang et al. J Gastrointest Oncol 2023 14(5) 2097-2110
Clinical validity and utility of circulating tumor DNA (ctDNA) testing in advanced non-small cell lung cancer (aNSCLC): a systematic literature review and meta-analysis.
Cheng Chen et al. medRxiv 2023
Long or short? Telomere length and pancreatic cancer and its precursor lesions, a narrative review.
Daniele Campa et al. Mutagenesis 2023
Using polygenic risk scores to aid diagnosis of patients with early inflammatory arthritis: results from the Norfolk Arthritis Register.
Ryan M Hum et al. Arthritis Rheumatol 2023
Affected brother as the highest risk factor of type 1 diabetes development in children and adolescents: One center data before implementing type 1 diabetes national screening.
Anna Wedrychowicz et al. Adv Clin Exp Med 2023
Ethical, Legal and Social Issues
Consideration and Disclosure of Group Risks in Genomics and Other Data-Centric Research: Does the Common Rule Need Revision?
Carolyn Riley Chapman et al. Am J Bioeth 2023 1-14
Attitudes towards genetic testing: The role of genetic literacy, motivated cognition, and socio-demographic characteristics.
Maxim Likhanov et al. PLoS One 2023 18(11) e0293187
A cross-professional competency framework for communicating genomic results.
Amanda Pichini et al. J Genet Couns 2023
DNA Testing for Preventative Health: Do Outcomes Justify Continued Investment?
Jim Banks et al. IEEE Pulse 2023 14(4) 19-23
Using Real-World Data to Inform Value-Based Contracts for Cell and Gene Therapies in Medicaid.
Antal Zemplenyi et al. Pharmacoeconomics 2023
Future Frontiers: Exploration of practices, challenges, and educational needs of genetic counselors in emerging subspecialties.
Priyanka Ahimaz et al. J Genet Couns 2023
Heart, Lung, Blood and Sleep
Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia - a cross-sectional analysis.
Maria De Montmollin et al. Swiss Med Wkly 2023 15340127
Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent Population.
Megan A Dickson et al. CJC Pediatr Congenit Heart Dis 2023 2(5) 211-218
Dynamic Importance of Genomic and Clinical Risk for Coronary Artery Disease Over the Life Course.
Sarah M Urbut et al. medRxiv 2023
Editorial: Genetics of sudden unexplained death in children and young adults: state of the art, testing and implications for translational research, public health and forensic pathology.
Simone Grassi et al. Front Med (Lausanne) 2023 101309179
Overview of a collaborative global effort to address the burden of familial hypercholesterolaemia.
Alexander R M Lyons et al. Indian Heart J 2023
The new face of cystic fibrosis in the era of population genetic carrier screening.
Miri Dotan et al. J Cyst Fibros 2023
A systematic review of cost-effectiveness analysis of different screening strategies for familial hypercholesterolemia.
Rui Meng et al. J Clin Lipidol 2023
Pain Frequency and Health Care Utilization Patterns in Women with Sickle Cell Disease Experiencing Menstruation-Associated Pain Crises.
Catherine Segbefia et al. J Womens Health (Larchmt) 2023
Educational needs of patients, families, and healthcare professionals to support the patient journey in haemophilia gene therapy in the UK.
Sara Boyce et al. Orphanet J Rare Dis 2023 18(1) 366
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families.
Sabrina A Suckiel et al. Am J Hum Genet 2023
Genetic risk, adherence to healthy lifestyle and acute cardiovascular and thromboembolic complications following SARS-COV-2 infection.
Junqing Xie et al. Nat Commun 2023 14(1) 4659
Awareness and Candidacy for Endocrine Prevention and Risk Reducing Mastectomy in Unaffected High-Risk Women Referred for Breast Cancer Risk Assessment.
Basmah Alhassan et al. Ann Surg Oncol 2023
Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?
Lucia Trevisan et al. Fam Cancer 2023
Only 32.3% of Breast Cancer Families with Pathogenic Variants in Cancer Genes Utilized Cascade Genetic Testing.
Konstantinos Agiannitopoulos et al. Cancers (Basel) 2023 15(21)
Update of the UMD-VHL database: classification of 164 challenging variants based on genotype-phenotype correlation among 605 entries.
Gregory Mougel et al. J Med Genet 2023
Nomogram Update to Predict the High Genomic Risk Breast Cancer by Different Races.
Peng Wu et al. Clin Breast Cancer 2023
Rate of Pathogenic Germline Variants in Patients With Lung Cancer.
Steven Sorscher et al. JCO Precis Oncol 2023 7e2300190
ASO Visual Abstract: Universal Germline Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision Making.
Charles Shelton et al. Ann Surg Oncol 2023
"Go ahead and screen" - advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients.
Jennifer L Schneider et al. Hered Cancer Clin Pract 2023 21(1) 24
Risk for Hereditary Neoplastic Syndromes in Women with Mismatch Repair-Proficient Endometrial Cancer.
Jennifer Thalita Targino Dos Santos et al. Genes (Basel) 2023 14(11)
Outcome data from 15 years of cystic fibrosis newborn screening in a large UK region.
Sarah Jane Driscoll et al. Arch Dis Child 2023
NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders.
Kee Chan et al. Int J Neonatal Screen 2023 9(4)
Cost-effectiveness of pharmacogenomic-guided treatment for major depression.
Shahzad Ghanbarian et al. CMAJ 2023 195(44) E1499-E1508
Clinical pharmacology and pharmacogenomics for implementation of personalized medicine.
Ashwin Kamath et al. Pharmacogenomics 2023
Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child?
Jan M Friedman et al. Genet Med 2023 101033
Impact of Pharmacogenomics in Clinical Practice.
Nicola Principi et al. Pharmaceuticals (Basel) 2023 16(11)
Patient-Level Exposure to Actionable Pharmacogenomic Medications in a Nationally Representative Insurance Claims Database.
Monica L Bianchini et al. J Pers Med 2023 13(11)
Healthcare professionals' and consumers' knowledge, attitudes, perspectives, and education needs in oncology pharmacogenomics: A systematic review.
Chiao Xin Lim et al. Clin Transl Sci 2023
An EMR-Based Approach to Determine Frequency, Prescribing Pattern, and Characteristics of Patients Receiving Drugs with Pharmacogenomic Guidelines.
George E MacKinnon et al. Pharmacy (Basel) 2023 11(6)
Are Community Pharmacists Ready to Deliver Pharmacogenomics Testing Services?
Heba Ghazal et al. Pharmacy (Basel) 2023 11(6)
A new contingent screening strategy increased detection rate of trisomy 21 in the first trimester.
Wei Luo et al. BMC Pregnancy Childbirth 2023 23(1) 791
Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.
Adeline Perrot et al. J Genet Couns 2023
Current controversy in prenatal diagnosis: The use of cfDNA to screen for monogenic conditions in low risk populations is ready for clinical use.
Neeta L Vora et al. Prenat Diagn 2023