Lisa Ku

FNIP1 variants are associated with favourable metabolism in 1 million humans

George Hindy, Rene C. Adam, Olukayode Sosina, Dwaine Pryce et autres

) that are enriched for liver- and adipose-expressed master regulators of energy balance, storage and metabolism; 23 (39%) of these genes encode approved or clinical-stage drug targets. Ultra-rare protein-truncating variants in FNIP1 (allele frequency, 0.01%), which encodes a suppressor of energy expenditure …

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Improving Genetic Testing Uptake in Prostate Cancer: Outcomes From a Multidisciplinary Clinic Evaluation

Laura S Graham, Aditya Mantha, Chiagozie Paul-Onyia, Lisa Ku et autres

PURPOSE: The National Comprehensive Cancer Network recommends germline genetic testing for patients with prostate cancer and high-risk features or a suggestive family history. In 2024, the University of Colorado Urological Oncology Multidisciplinary Clinic (MDC) transitioned from a referral-based to a mainstream genetic …

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Polygenic risk score for type 2 diabetes shows context-dependent effects across populations

Boya Guo, Yanwei Cai, Daeeun Kim, Roelof A. J. Smit et autres

Polygenic risk scores hold prognostic value for identifying individuals at higher risk of type 2 diabetes. However, further characterization is needed to understand the generalizability of type 2 diabetes polygenic risk scores in diverse populations across various contexts. We systematically characterize a …

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Modeling the genomic architecture of adiposity and anthropometrics across the lifespan

Christopher H. Arehart, Meng Lin, Raine A Gibson, Heather D. Anderson et autres

Obesity-related conditions are among the leading causes of preventable death and are increasing in prevalence worldwide. Body size and composition are complex traits that are challenging to characterize due to environmental and genetic influences, longitudinal variation, heterogeneity between sexes, and differing health …

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Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine

Laura K. Wiley, Jonathan Shortt, Emily R. Roberts, Jan T. Lowery et autres

Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct benefit …

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Returning actionable genetic results to participants in the biobank at the Colorado Center for Personalized Medicine and UCHealth

Jan T. Lowery, Lisen Axell, Lisa Ku, Emily B. Todd et autres

Purpose: To describe our process for returning genetic results to participants in the Colorado Center for Personalized Medicine biobank. Methods: Enrollment in the biobank is open to all adult UCHealth patients. Participants who provided a sample that was genotyped and signed the …

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Small cell carcinoma of the ovary hypercalcemic type (SCCOHT): A review and novel case with dual germline SMARCA4 and BRCA2 mutations

Brooke E. Sanders, Rebecca J. Wolsky, Elizabeth S. Doughty, Kristen L. Wells et autres

Small cell carcinoma of the ovary hypercalcemic type (SCCOHT) is a rare and aggressive disease. While classically linked to mutations in SMARCA4, we describe a case in a patient with both SMARCA4 and BRCA2 germline mutations. We describe her disease presentation, histopathology …

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Building a Vertically-Integrated Genomic Learning Health System: The Colorado Center for Personalized Medicine Biobank

Laura K. Wiley, Jonathan Shortt, Emily R Roberts, Jan T. Lowery et autres

ABSTRACT Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling genomic analyses across the entire phenome. Many of these initiatives focus solely on research insights, leading to limited direct …

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Assessing somatic mutations in matched biospecimens from patients with serous ovarian cancer

Brooke E. Sanders, Benjamin G. Bitler, Lisa Ku

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Assessing Genetic Variants in Matched Biocompartments From Patients With Serous Ovarian Cancer

Brooke E. Sanders, Lisa Ku, Paul Phillip Walker, Benjamin G. Bitler

The clinical use of molecular tumor profiling (MTP) is expanding and there is an increasing use of MTP data to manage patient care. At the University of Colorado, 18 patients were diagnosed with primary serous ovarian cancer between 9/2015 and 6/2019 and …

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Massive air embolism from continuous venovenous haemofiltration causing electromechanical dissociation in a cardiac surgical patient

Lisa Ku, Laurence Weinberg, Siven Seevanayagam, Ian Thomas Baldwin et autres

Venous air embolism is a rare but life-threatening complication of continuous venovenous haemofiltration. We report a case of massive venous air embolism associated with haemofiltration in a 75-year-old man after complicated cardiac surgery. Haemofiltration circuitry and air detector alarms are not infallible …

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Longitudinal Cephalometric Changes of Orthodontic Patients Evaluated Long-Term

Lisa Ku

Posttreatment changes are further complicated by the slow continued growth that occurs after treatment into adulthood.The purpose of this study was to examine long term posttreatment changes.The lateral cephalograms of 51 Caucasian females treated in the standard Edgewise practice of one private …