Published on 06/21/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
Imke A M Ditters et al. BioDrugs 2023 -
Retrospective analysis of patients with severe combined immunodeficiency and alternative diagnostic criteria: A 20-year single centre experience.
Sevim Busra Korkmaz et al. Int J Immunogenet 2023 -
What matters to parents? A scoping review of parents' service experiences and needs regarding genetic testing for rare diseases.
Erin Crellin et al. Eur J Hum Genet 2023 -
Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Katherine E Bonini et al. Clin Genet 2023 -
Clinical genome sequencing: three years' experience at a tertiary children's hospital.
Runjun D Kumar et al. Genet Med 2023 100916
Cancer Genomics
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Pertuzumab Plus Trastuzumab in Patients With Lung Cancer With ERBB2 Mutation or Amplification: Results From the Targeted Agent and Profiling Utilization Registry Study.
Apar K Ganti et al. JCO Precis Oncol 2023 7e2300041 -
Variations in Genomic Testing in Non-small Cell Lung Carcinoma: A Healthcare Professional Survey of Current Practices in the UK.
Shobhit Baijal et al. Oncologist 2023
Hereditary Cancer
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BRCA mutations detected by tumour next-generation sequencing in non-small cell lung cancer: impact on response to therapy and disease course.
Roi Tschernichovsky et al. Transl Lung Cancer Res 2023 12(5) 1011-1022 -
Breast cancer risk stratification using genetic and non-genetic risk assessment tools for 246,142 women in the UK Biobank.
Peh Joo Ho et al. Genet Med 2023 100917 -
Laboratory Selection in Germline Genetic Testing: Laboratory Science Matters.
Suzanne M Mahon et al. J Natl Compr Canc Netw 2023 21(6) 588-592 -
Adherence to Risk-Reducing Salpingo-Oophorectomy Guidelines Among Gynecologic Oncologists Compared to General Gynecologists.
Pegah Blustein et al. Am J Obstet Gynecol 2023 -
Clinical Multigene Panel Testing Identifies Racial and Ethnic Differences in Germline Pathogenic Variants Among Patients With Early-Onset Colorectal Cancer.
Hannah M Seagle et al. J Clin Oncol 2023 JCO2202378 -
Interventions to support decision making in people considering germline genetic testing for BRCA 1/2 pathogenic and likely pathogenic variants: A scoping review.
Rachel A Pozzar et al. J Genet Couns 2023
Chronic Disease
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Targeted gene panel provides advantages over whole-exome sequencing for diagnosing obesity and diabetes mellitus.
Hairong Yu et al. J Mol Cell Biol 2023 -
Contributions of rare and common variation to early-onset and atypical dementia risk.
Carter A Wright et al. Cold Spring Harb Mol Case Stud 2023 -
Shared genetic risk loci between Alzheimer's disease and related dementias, Parkinson's disease, and amyotrophic lateral sclerosis.
Michael Wainberg et al. Alzheimers Res Ther 2023 15(1) 113 -
Genetic Counseling in Kidney Disease: A Perspective.
Quinn Stein et al. Kidney Med 2023 5(7) 100668 -
International Genetic Testing and Counseling Practices for Parkinson's Disease.
Rachel Saunders-Pullman et al. Mov Disord 2023
Ethics/Policy/Law
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Perceptions of forensic scientists on statistical models, sequence data, and ethical implications for DNA evidence evaluations: A qualitative assessment.
Sanne E Aalbers et al. Forensic Sci Int Synerg 2023 6100335 -
Defining critical educational components of informed consent for genetic testing: views of US-based genetic counselors and medical geneticists.
Miranda L G Hallquist et al. Eur J Hum Genet 2023 -
Algorithmic Bias and Research integrity; the role of non-human authors in shaping scientific knowledge with respect to Artificial Intelligence (AI); a perspective.
Malik Olatunde Oduoye et al. Int J Surg 2023
Practice
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Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations.
Niall J Lennon et al. medRxiv 2023 -
Impact of comorbidity on family genetic risk profiles for psychiatric and substance use disorders: a descriptive analysis.
Kenneth S Kendler et al. Psychol Med 2023 53(6) 2389-2398
Heart, Lung, Blood and Sleep Diseases
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International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia.
Gerald F Watts et al. Nat Rev Cardiol 2023 -
Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.
Jason P Glotzbach et al. Circulation 2023 -
Updated recommendations for CFTR carrier screening: A position statement of the American College of Medical Genetics and Genomics (ACMG).
Joshua L Deignan et al. Genet Med 2023 100867
Newborn Screening
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The impacts of adrenoleukodystrophy newborn screening on the evaluation of adrenal dysfunction in male children: An integrative literature review.
Leslie Pitts et al. J Pediatr Nurs 2023 -
Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening.
Oguzhan Tin et al. Turk Arch Pediatr 2023 -
Assessment of the Degree of Clinical Suspicion of 21-Hydroxylase Deficiency Prior to the Newborn Screening Result.
María Sanz Fernández et al. Horm Metab Res 2023
Pharmacogenomics
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Bridging the gap between genetic epidemiological research and prevention: A randomized control trial of a novel personalized feedback program for alcohol and cannabis use.
Maia Choi et al. Drug Alcohol Depend 2023 249110818 -
Upfront DPYD Genotype-Guided Treatment for Fluoropyrimidine-Based Chemotherapy in Advanced and Metastatic Colorectal Cancer: A Cost-Effectiveness Analysis.
Soroush Ahmadi Fariman et al. Value Health Reg Issues 2023 3771-80 -
Pharmacogenetic testing in psychiatry: Perspective on clinical utility.
Frances Adiukwu et al. Asian J Psychiatr 2023 86103674