Published on 07/20/2023
Human Genomics across the Lifespan
Birth Defects and Child Health
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Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.
Jill L Maron et al. JAMA 2023 330(2) 161-169 -
Mental health impact of autism on families of children with intellectual and developmental disabilities of genetic origin.
Jeanne Wolstencroft et al. JCPP Adv 2023 3(1) e12128 -
Evaluating the impact of accessible low-cost pediatric genetic testing on underserved communities in the United States.
Jordy Salcedo-Giraldo et al. Pediatr Nephrol 2023 -
Assessing Diversity in Newborn Genomic Sequencing Research Recruitment: Race/Ethnicity and Primary Spoken Language Variation in Eligibility, Enrollment, and Reasons for Declining.
Julie A Cakici et al. Clin Ther 2023
Cancer
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Importance of ROS1 gene fusions in non-small cell lung cancer.
Meri Muminovic et al. Cancer Drug Resist 2023 6(2) 332-344
Cancer Genomics
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Survival results according to Oncotype Dx recurrence score in patients with hormone receptor positive HER-2 negative early-stage breast cancer: first multicenter Oncotype Dx recurrence score survival data of Turkey.
Çaglar Ünal et al. Front Oncol 2023 131151733 -
Development and multicenter case-control validation of urinary comprehensive genomic profiling for urothelial carcinoma diagnosis, surveillance, and risk prediction.
Keyan Salari et al. Clin Cancer Res 2023 -
First-Line Genomic Profiling in Previously Untreated Advanced Solid Tumors for Identification of Targeted Therapy Opportunities.
Junichi Matsubara et al. JAMA Netw Open 2023 6(7) e2323336 -
Implementation and yield of upfront genomic profiling in a clinical prostate cancer diagnostic pathway.
Charlie Massie et al. BJU Int 2023 -
The Clinical Significance of Genetic Variation in Ovarian Cancer.
Dongjo Ban et al. Int J Mol Sci 2023 24(13)
Hereditary Cancer
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Association of polygenic score with tumor molecular subtypes in papillary thyroid carcinoma.
Jennifer R Wang et al. J Clin Endocrinol Metab 2023 -
ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.
Lenka Stolarova et al. Clin Cancer Res 2023 OF1-OF14 -
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.
Ahmed Bouras et al. Cancers (Basel) 2023 15(13)
Chronic Disease
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The familial risk and heritability of multiple sclerosis and its onset phenotypes: A case-control study.
Graysen Steele Boles et al. Mult Scler 2023 13524585231185258
Ethics/Policy/Law
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Payer reimbursement practices and incentives for improving interpretation of germline genetic testing.
Patricia Deverka et al. J Law Biosci 2023 10(2) lsad020 -
Rethinking Benefit and Responsibility in in the Context of Diversity: Perspectives from the Frontlines of Precision Medicine Research.
Emily Vasquez et al. Public Health Genomics 2023
Practice
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Racial Differences in Perceptions of Genetic Wellness Programs.
Forrest Briscoe et al. Am J Health Promot 2023 8901171231184360 -
Tools of genomic medicine for clinical practice: The example of psychiatry.
Camila Vargas et al. Medwave 2023 23(6) -
The Nature of the Familial Risk for Psychosis in Bipolar Disorder.
Kenneth S Kendler et al. Schizophr Bull 2023 -
Implementation of precision medicine in healthcare - a European perspective.
Albrecht Stenzinger et al. J Intern Med 2023 -
Commonalities and contrasts: North American program directors' perspectives on genetic counseling education.
Bonnie J Baty et al. J Genet Couns 2023 -
iKNOWgynetics - A web-based learning concept to empower primary care gynecologists to participate in the care of patients with a family history of breast and ovarian cancer.
Dorothee Speiser et al. J Genet Couns 2023 -
Script concordance testing in genetic counseling training: A pilot study.
Yakira S Begun et al. J Genet Couns 2023
Heart, Lung, Blood and Sleep Diseases
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Defining global strategies to improve outcomes in sickle cell disease: a Lancet Haematology Commission.
Frédéric B Piel et al. Lancet Haematol 2023 -
Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
María Del Mar Mañú Pereira et al. Lancet Haematol 2023 -
The German CaRe high registry for familial hypercholesterolemia - Sex differences, treatment strategies, and target value attainment.
Winfried März et al. Atheroscler Plus 2023 536-15 -
EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias.
Jesse B Hayesmoore et al. Eur J Hum Genet 2023
Newborn Screening
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Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Bennett Oh Vic Shum et al. Clin Chem 2023 -
Sickle cell disease in the Caribbean: progress in newborn screening, clinical care, and research through collaboration.
Jennifer Knight-Madden et al. Lancet Haematol 2023
Pharmacogenomics
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Assessing Clinical Utility of Pharmacogenetic Testing in the Military Health System.
Lydia D Hellwig et al. Mil Med 2023 -
Prescription medications with actionable pharmacogenomic recommendations in Veterans Health Administration patients.
Saba Maghari et al. Pharmacogenomics 2023 -
Congruence rates for pharmacogenomic noninterruptive alerts.
Sarah C Mills et al. Pharmacogenomics 2023
Reproductive Health
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Prenatal Genetic Screening in Twin Pregnancy.
Lauren Buckley et al. Clin Obstet Gynecol 2023 -
Maternal sex chromosome aneuploidy identified through noninvasive prenatal screening: clinical profile and patient experience.
Aaron W Roberts et al. Am J Perinatol 2023