Published on 07/13/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
-
A twin study of genetic and environmental contributions to attention-deficit/hyperactivity disorder over time.
Mark J Taylor et al. J Child Psychol Psychiatry 2023 -
Comprehensiveness of online sources for patient education on hereditary hearing impairment.
Yasar Kemal Duymaz et al. Front Pediatr 2023 111147207 -
Development of orphan drugs for rare disease.
Han-Wook Yoo et al. Clin Exp Pediatr 2023 -
Provision and Availability of Genomic Medicine Services in Level IV Neonatal Intensive Care Units.
Monica H Wojcik et al. Genet Med 2023 100926
Cancer Genomics
-
Application of precision medicine based on next-generation sequencing and immunohistochemistry in ovarian cancer: a real-world experience.
Yoo-Na Kim et al. J Gynecol Oncol 2023 -
Mutations in epigenetic regulator KMT2C detected by liquid biopsy are associated with worse survival in prostate cancer patients.
Sha Zhu et al. Oncol Res 2023 31(4) 605-614 -
ESMO Study on the Availability and Accessibility of Biomolecular Technologies in Oncology in Europe.
A Bayle et al. Ann Oncol 2023 -
Genomic signature to guide adjuvant chemotherapy treatment decisions for early breast cancer patients in France: a cost-effectiveness analysis.
Elsa Curtit et al. Front Oncol 2023 131191943 -
Stool DNA testing for early detection of colorectal cancer: systematic review using the HTA Core Model for Rapid Relative Effectiveness Assessment.
Heidi Stürzlinger et al. Ger Med Sci 2023 21Doc06 -
The relation between epidermal growth factor receptor mutations profiles and smoking patterns in patients with lung adenocarcinoma: A cross-sectional study.
Seyedeh Yasamin Parvar et al. Health Sci Rep 2023 6(7) e1369 -
Improving the turnaround time of molecular profiling for advanced non-small cell lung cancer: Outcome of a new algorithm integrating multiple approaches.
G Treichler et al. Pathol Res Pract 2023 248154660 -
Real World Validation of an Adjunctive Gene Expression Profiling Assay for Melanoma Diagnosis and Correlation with Clinical Outcomes at an Academic Center.
W Boothby-Shoemaker et al. Hum Pathol 2023
Hereditary Cancer
-
Barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK).
Valencia Kabeya et al. J Genet Couns 2023 -
Rates of intervention and cancer detection on initial versus subsequent whole body MRI screening in Li-Fraumeni Syndrome.
Laura At Kagami et al. Cancer Prev Res (Phila) 2023 -
Low-dose CT screening in relatives with a family history of lung cancer.
Chi-Liang Wang et al. J Thorac Oncol 2023 -
Aligning germline and somatic mutations in prostate cancer. Are genetics changing practice?
Olivier Cussenot et al. BJU Int 2023
Ethics/Policy/Law
-
Ethical Issues Associated With Direct-to-Consumer Genetic Testing.
Kirpal S Panacer et al. Cureus 2023 15(6) e39918 -
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis.
Nina Hallowell et al. SSM Qual Res Health 2023 3100240
Practice
-
Lack of guidelines and translational knowledge is hindering the implementation of psychiatric genetic counseling and testing within Europe - A multi-professional survey study.
Kati Koido et al. Eur J Med Genet 2023 104805 -
Integrating Theory with Education about Genetic Risk for Alcohol Use Disorder: The Effects of a Brief Online Educational Tool on Elements of the Health Belief Model.
Morgan N Driver et al. Complex Psychiatry 2023 9(1-4) 89-99 -
Most people share genetic test results with relatives even if the findings are normal: family communication in a diverse population.
Jessica Ezzell Hunter et al. Genet Med 2023 100923 -
A novel online genomic counseling and variant interpretation certificate: Learning design, learning analytics, and evaluation.
Leah P Macfadyen et al. J Genet Couns 2023
Heart, Lung, Blood and Sleep Diseases
-
Development and validation of a short form psychometric tool assessing the caregiving Challenge of Living with Cystic Fibrosis (CLCF-SF) in a child.
Gareth McCray et al. Psychol Health 2023 1-23 -
Lipoprotein(a): a Case for Universal Screening in Youth.
Aparna Alankar et al. Curr Atheroscler Rep 2023 -
Genetic risk factors for postoperative atrial fibrillation-a nationwide genome-wide association study (GWAS).
Mathias A Christensen et al. Front Cardiovasc Med 2023 101040757 -
Application of next generation sequencing in cardiology: current and future precision medicine implications.
Eirini Papadopoulou et al. Front Cardiovasc Med 2023 101202381 -
Evolving cardiovascular genetic counseling needs in the era of precision medicine.
Ana Morales et al. Front Cardiovasc Med 2023 101161029
Newborn Screening
-
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening.
Nishitha R Pillai et al. Mol Genet Metab 2023 107633 -
Late Diagnosis in the Era of Universal Newborn Screening Negatively Effects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis.
Stacey L Martiniano et al. J Pediatr 2023 113595 -
Genomic newborn screening: are we entering a new era of screening?
Ute Spiekerkoetter et al. J Inherit Metab Dis 2023