Published on 02/02/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Germline genetic mutations in pediatric cerebrovascular anomalies: a multidisciplinary approach to screening, testing, and management.
Melissa A LoPresti et al. Journal of neurosurgery. Pediatrics 2023 1-9 -
Association of Early Childhood Caries with Bitter Taste Receptors: A Meta-Analysis of Genome-Wide Association Studies and Transcriptome-Wide Association Study.
Ekaterina Orlova et al. Genes 2023 14(1) -
Fetal genetic findings by chromosomal microarray analysis and karyotyping for fetal growth restriction without structural malformations at a territory referral center: 10-year experience.
Xiaoqing Wu et al. BMC pregnancy and childbirth 2023 23(1) 73 -
Clinical impact of exome sequencing in the setting of a general pediatric ward for hospitalized children with suspected genetic disorders.
Maayan Kagan et al. Frontiers in genetics 2023 131018062 -
Exome/Genome Sequencing in Undiagnosed Syndromes.
Jennifer A Sullivan et al. Annual review of medicine 2023 74489-502
Cancer Genomics
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Mainstreaming of genomics in oncology: a nationwide survey of the genomics training needs of UK oncologists.
Rippie K Tutika et al. Clinical medicine (London, England) 2023 23(1) 9-15 -
Targeted next-generation sequencing has incremental value in the diagnostic work-up of patients with suspect pancreatic masses; a multi-center prospective cross sectional study.
Friso B Achterberg et al. PloS one 2023 18(1) e0280939 -
The clinical impact of testing for biomarkers in gastric cancer patients: a real world cohort.
Karen van der Sluis et al. Histopathology 2023 -
Comprehensive analysis of PTPN family expression and prognosis in acute myeloid leukemia.
Yong Liu et al. Frontiers in genetics 2023 131087938 -
Chemotherapy refusal and subsequent survival in healthy older women with high genomic risk estrogen receptor-positive breast cancer.
McKenzie J White et al. Breast cancer research and treatment 2023 -
A clinicopathological study and survival analysis of 99 breast cancers with HER2/CEP17 ratio ≥ 2.0 and an average HER2 copy number < 4.0 per cell in China.
Shuling Zhou et al. BMC cancer 2023 23(1) 84 -
Clinical utility of circulating tumor DNA sequencing with a large panel: a National Center for Precision Medicine (PRISM) study.
A Bayle et al. Annals of oncology : official journal of the European Society for Medical Oncology 2023 -
Targeted next-generation sequencing for the detection of cancer-associated somatic mutations in adenomyosis.
Angel Chao et al. Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology 2023 43(1) 2161352
Hereditary Cancer
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Associations of a Breast Cancer Polygenic Risk Score With Tumor Characteristics and Survival.
Josephine M N Lopes Cardozo et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2023 JCO2201978 -
Mismatch-repair deficiency, microsatellite instability, and lynch syndrome in ovarian cancer: A systematic review and meta-analysis.
Cristina Mitric et al. Gynecologic oncology 2023 170133-142 -
Contralateral Prophylactic Mastectomy among Women with Pathogenic Variants in BRCA1/2: Overall Survival, Racial, and Ethnic Differences.
Sukh Makhnoon et al. The breast journal 2023 20221447545 -
Communicating PNPLA3 genetic risk status for NAFLD among Mexican-origin men.
Edgar A Villavicencio et al. Frontiers in public health 2023 101090101 -
Genetic study in pheochromocytoma ¿is it possible to stratify the risk of hereditary pheochromocytoma?
Marta Araujo-Castro et al. Neuroendocrinology 2023 -
Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
Rose B McGee et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2023 -
A qualitative study of patients with Cancer of Unknown Primary: Perceptions of communication, understanding of diagnosis and genomic testing, and information needs.
Kamil Wolyniec et al. Psycho-oncology 2023 -
A Focused Clinical Review of Lynch Syndrome.
Demetra Georgiou et al. Cancer management and research 2023 1567-85 -
Cultural adaptations to a telephone genetic counseling protocol and booklet for Latina breast cancer survivors at risk for hereditary breast and ovarian cancer.
Sara Gómez-Trillos et al. Translational behavioral medicine 2023 -
Outcomes of Universal Point-of-Care Genetic Testing in Diverse Patients With Pancreatic Ductal Adenocarcinoma.
Christine M Drogan et al. JCO precision oncology 2023 7e2200196
Chronic Disease
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Estrogen Receptor Genes, Cognitive Decline, and Alzheimer Disease.
Shahram Oveisgharan et al. Neurology 2023 -
Genetic determinants of type 1 diabetes in individuals with weak evidence of islet autoimmunity at disease onset.
Paola Carrera et al. Diabetologia 2023
Ethics/Policy/Law
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The ethics of gene therapy for hemophilia: a narrative review.
Lieke Baas et al. Journal of thrombosis and haemostasis : JTH 2023 -
Democratizing clinical-genomic data: How federated platforms can promote benefits sharing in genomics.
Maria Alvarellos et al. Frontiers in genetics 2023 131045450 -
Editorial: Implementation of genomic medicine in Africa: One continent, one vision.
Maritha J Kotze et al. Frontiers in genetics 2023 131133118 -
Blockchains as a means to promote privacy protecting, access availing, incentive increasing, ELSI lessening DNA databases.
Gal Zarchi et al. Frontiers in digital health 2023 41028249 -
An Ethical Argument for Health Insurance Coverage of Paternal Prenatal Genetic Testing.
Michelle T Nguyen et al. Obstetrics and gynecology 2023 141(1) 11-14
Practice
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Awareness, understanding, and interest in personalized medicine: A cross-sectional survey study of college students.
Yingke Xu et al. PloS one 2023 18(1) e0280832 -
Relationship of Family Genetic Risk Score With Diagnostic Trajectory in a Swedish National Sample of Incident Cases of Major Depression, Bipolar Disorder, Other Nonaffective Psychosis, and Schizophrenia.
Kenneth S Kendler et al. JAMA psychiatry 2023 -
Gene-targeted therapies: Towards equitable development, diagnosis, and access.
Amy M Gaviglio et al. American journal of medical genetics. Part C, Seminars in medical genetics 2023 -
RNA therapeutics in the clinic.
Alexander Curreri et al. Bioengineering & translational medicine 2023 8(1) e10374 -
Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort.
Estefanía Martinez-Barrios et al. International journal of legal medicine 2023 -
Interventions addressing genetic disease burdens within selected countries in the MENA region: a scoping review.
Madison Grant et al. Journal of community genetics 2023 -
The genetic basis of major depressive disorder.
Jonathan Flint et al. Molecular psychiatry 2023
Heart, Lung, Blood and Sleep Diseases
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Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia.
Qiaowei Liang et al. Clinical chemistry 2023 -
Guidelines for the Diagnosis and Treatment of Adult Familial Hypercholesterolemia 2022.
Mariko Harada-Shiba et al. Journal of atherosclerosis and thrombosis 2023 -
Clinical genome editing to treat sickle cell disease-A brief update.
Parinaz Zarghamian et al. Frontiers in medicine 2023 91065377 -
A survey exploring caregiver burden and health-related quality of life in hereditary transthyretin amyloidosis.
Sarah Acaster et al. Orphanet journal of rare diseases 2023 18(1) 17 -
Adherence to statin treatment in patients with familial hypercholesterolemia: A dynamic prediction model.
Arjen J Cupido et al. Journal of clinical lipidology 2023
Reproductive Health
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Clinical outcomes of subtypes of mosaic single aneuploid embryos after preimplantation genetic testing for aneuploidy.
Ying Wang et al. Journal of assisted reproduction and genetics 2023 -
Aneuploidy screening after preimplantation genetic testing: a national survey of physician knowledge and practice.
Lisa McNamee et al. Journal of assisted reproduction and genetics 2023