Published on 02/09/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Sólveig Óskarsdóttir et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100338 -
Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Erik Boot et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100344 -
Update on genetics of attention deficit/hyperactivity disorder: current status 2023.
Thorsten M Kranz et al. Current opinion in psychiatry 2023 -
Insurance denials and diagnostic rates in a pediatric genomic research cohort.
Tricia N Zion et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100020 -
Clinical and diagnostic utility of genomic sequencing for children referred to a Kidney Genomics Clinic with microscopic haematuria.
Josiah Shanks et al. Pediatric nephrology (Berlin, Germany) 2023
Cancer Genomics
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Liquid Biopsy for Guiding Treatment Decisions in Advanced Non-Small Cell Lung Cancer.
Gretchen Suk et al. Journal of the advanced practitioner in oncology 2023 13(8) 790-795 -
Validation of multi-gene panel next-generation sequencing for the detection of BRCA mutation in formalin-fixed, paraffin-embedded epithelial ovarian cancer tissues.
Eun Taeg Kim et al. Taiwanese journal of obstetrics & gynecology 2023 62(1) 66-70 -
Homologous Recombination Repair Gene Mutations to Predict Olaparib Plus Bevacizumab Efficacy in the First-Line Ovarian Cancer PAOLA-1/ENGOT-ov25 Trial.
Eric Pujade-Lauraine et al. JCO precision oncology 2023 7e2200258 -
Postoperative circulating tumor DNA can refine risk stratification in resectable lung cancer: results from a multicenter study.
Rui Fu et al. Molecular oncology 2023 -
Targeted Molecular Testing in Endometrial Carcinoma: Validation of a Clinically Driven Selective ProMisE Testing Protocol.
Aline Talhouk et al. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 2023
Hereditary Cancer
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Distinct breast cancer phenotypes in BRCA 1/2 carriers based on ER status.
Shai Rosenberg et al. Breast cancer research and treatment 2023 -
Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study.
Francesca Tavano et al. Molecular medicine (Cambridge, Mass.) 2023 29(1) 14
Chronic Disease
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Characteristics of familial pancreatic cancer families with additional colorectal carcinoma.
Bettina Lehman et al. Familial cancer 2023 -
Apolipoprotein E gene variants shape the association between dietary fibre intake and cognitive decline risk in community-dwelling older adults.
Andrea Unión-Caballero et al. Age and ageing 2023 52(1)
Ethics/Policy/Law
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Indigenous peoples and inclusion in clinical and genomic research: Understanding the history and navigating contemporary engagement.
Angela Waanders et al. Neoplasia (New York, N.Y.) 2023 37100879 -
Health inequity in genomic personalized medicine in underrepresented populations: a look at the current evidence.
Sherouk M Tawfik et al. Functional & integrative genomics 2023 23(1) 54
Practice
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Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing.
Tarryn Shaw et al. Singapore medical journal 2023 64(1) 67-73 -
Pitfalls in clinical genetics.
Hui-Lin Chin et al. Singapore medical journal 2023 64(1) 53-58 -
Examining the Impact of Polygenic Risk Information in Primary Care.
Joel E Pacyna et al. Journal of primary care & community health 2023 1421501319231151766 -
Something to chat about: An analysis of genetic counseling via asynchronous messaging following direct-to-consumer genetic testing.
Cari Koerner et al. Journal of genetic counseling 2023
Heart, Lung, Blood and Sleep Diseases
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A systematic review comparing allogeneic hematopoietic stem cell transplant to gene therapy in sickle cell disease.
Lianne E Rotin et al. Hematology (Amsterdam, Netherlands) 2023 28(1) 2163357 -
Benefits, Harms and Costs of Newborn Genetic Screening for Hypertrophic Cardiomyopathy: Estimates from the PreEMPT Model.
Kurt D Christensen et al. Genetics in medicine : official journal of the American College of Medical Genetics 2023 100797 -
Access to healthcare for people with sickle cell disease: Views of healthcare professionals on policies and practices.
Obi Peter Adigwe et al. Molecular genetics & genomic medicine 2023 e2142 -
Return of Participants' Incidental Genetic Research Findings: Experience from a Case-Control Study of Asthma in an American Indian Community.
Lyle G Best et al. Research square 2023 -
Electronic health record-based facilitation of familial hypercholesterolaemia detection sensitivity of different algorithms in genetically confirmed patients.
Niekbachsh Mohammadnia et al. European heart journal. Digital health 2023 3(4) 578-586 -
Phenotypes of Overdiagnosed Long QT Syndrome.
Sahej Bains et al. Journal of the American College of Cardiology 2023 81(5) 477-486 -
The risk of major bleeding in patients with factor V Leiden or prothrombin G20210A gene mutation while on extended anticoagulant treatment for venous thromboembolism.
Lucia Caiano et al. Journal of thrombosis and haemostasis : JTH 2023 -
Hereditary Angioedema with Normal C1 Inhibitor: US Survey of Prevalence and Provider Practice Patterns.
Marc A Riedl et al. The journal of allergy and clinical immunology. In practice 2023 -
Prediction of venous thromboembolism incidence in the general adult population using two published genetic risk scores.
Aaron R Folsom et al. PloS one 2023 18(1) e0280657 -
Exploring Factors Underlying Poorly-Controlled Asthma in Adults by Integrating Phenotypes and Genotypes Associated with Obesity and Asthma: A Case-Control Study.
Hung-Ling Huang et al. Journal of asthma and allergy 2023 16135-147
Newborn Screening
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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Trine Tangeraas et al. Brain : a journal of neurology 2023
Pharmacogenomics
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Association Between Genetically Predicted Expression of TPMT and Azathioprine Adverse Events.
Alyssa Davis et al. Research square 2023 -
Addressing disparities in pharmacogenomics through rural and underserved workforce education.
Jacob T Brown et al. Frontiers in genetics 2023 131082985 -
DNA methylation of ITGB2 contributes to allopurinol hypersensitivity.
Yu Liu et al. Clinical immunology (Orlando, Fla.) 2023 109250 -
Implementation of CYP2D6-guided opioid therapy at Cincinnati Children's Hospital Medical Center.
Laura B Ramsey et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2023 -
Interdisciplinary Collaboration Among Nursing and Computer Science to Refine a Pharmacogenetics Clinical Decision Support Tool Via Mobile Application.
Crystal Dodson et al. Computers, informatics, nursing : CIN 2023 -
A lifetime economic research of universal HLA-B*58:01 genotyping or febuxostat initiation therapy in Chinese gout patients with mild to moderate chronic kidney disease.
Yuan Hong et al. Pharmacogenetics and genomics 2023 -
Implementation of pharmacogenomics into inpatient general medicine.
Thomas Chen et al. Pharmacogenetics and genomics 2023 -
Exploring perceptions, knowledge, and attitudes regarding pharmacogenetic testing in the medically underserved.
Brian E Gawronski et al. Frontiers in genetics 2023 131085994
Reproductive Health
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Genetics in prenatal diagnosis.
Karen Mei Xian Lim et al. Singapore medical journal 2023 64(1) 27-36 -
The uncertainty of copy number variants: pregnancy decisions and clinical follow up.
Panlai Shi et al. American journal of obstetrics and gynecology 2023