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Articles 194491 - 194520 of 1449692
Full-Text Articles in Entire DC Network
Diversity, Dignity, Equity, And Inclusion In The Age Of Division, Discord, And Disunion: Stereotyping, Sexist, Hegemony In Education, Abha Gupta
Teaching & Learning Faculty Publications
The article addresses diversity issues related to language, gender, and culture. Topics include fundamental areas of research essential to the discussion on language diversity in the context of education with respect to equity, poverty, stereotype threat, Pygmalion Effect, non-sexist language, and Matthews Effect. The discussion on diversity and equity creates a space to think about issues of access, opportunity, voice, and equal participation within society and educational settings. Diversity among humans requires thoughtful considerations, accommodations, and differentiations in educational treatment, yet providing equal opportunities for growth and learning for all.
A Glimmer Of Hope For Tomorrow: Conversations With The 2022 Social Justice Literature Award Winners, Judith M. Dunkerly, Char Moffit
A Glimmer Of Hope For Tomorrow: Conversations With The 2022 Social Justice Literature Award Winners, Judith M. Dunkerly, Char Moffit
Teaching & Learning Faculty Publications
Against a backdrop of legislation aimed at classroom book bannings and efforts to whitewash curriculum, this article draws from interviews with the winners of the 2022 International Literacy Association's Social Justice Literature Award winners to offer hope and inspiration for literacy teachers, researchers, and most importantly, young readers. Utilizing a World Cafe approach, the authors of this article talk with the award winners about their personal stories, the origins of these social justice books, and their message for students, teachers, and caregivers in these tumultuous times. It concludes with a discussion of the use of social justice texts in the …
Open To All: Administrators’ And Teachers’ Perceptions Of Issues Of Equity And Diversity In Teacher Leadership, Jori S. Beck, Kaavonia Hinton, Brandon M. Butler, Peter D. Wiens
Open To All: Administrators’ And Teachers’ Perceptions Of Issues Of Equity And Diversity In Teacher Leadership, Jori S. Beck, Kaavonia Hinton, Brandon M. Butler, Peter D. Wiens
Teaching & Learning Faculty Publications
This study is a response to calls for more research on diversity in teacher leadership (TL), particularly in urban schools. Critical race theory illuminated the role race and racism can play in determining who gets access to TL positions and how that access is characterized using liberal discourse and ideology. We used a component mixed methods design to explore whether administrators and teachers perceived that teacher leadership positions were open to everyone. Beliefs that TL opportunities are “open to all” allow the field to accept the status quo, making it difficult to see (or do anything about) racial inequities.
Unveiling Pre-Service Teachers' Epistemological Beliefs In The Planning Of Korean Language Assessment, Haeju Cheon, Seongryeong Yu
Unveiling Pre-Service Teachers' Epistemological Beliefs In The Planning Of Korean Language Assessment, Haeju Cheon, Seongryeong Yu
Teaching & Learning Faculty Publications
This study explores the epistemological beliefs of pre-service elementary teachers in Korean language education and their impact on performance assessment task planning. Grounded in the correlation between teachers’ beliefs and instructional approaches, the research aims to redefine Schommer’s (1990) epistemological dimensions in tasks designed by pre-service teachers. Data from 150 participants were analyzed quantitatively and qualitatively, revealing three belief-based clusters: Naive (24.7%), Mixed (51.3%), and Sophisticated (24.0%). Task planning patterns in all groups focus on individual perspective analysis and selfreflection. The Mixed group emphasizes related readings, exposing participants to various perspectives. In contrast, the Naive group employs diverse tasks in …
Health Care Equity Through Intelligent Edge Computing And Augmented Reality/Virtual Reality: A Systematic Review, Vishal Lakshminarayanan, Aswathy Ravikumar, Harini Sriraman, Sujatha Alla, Vijay Kumar Chattu
Health Care Equity Through Intelligent Edge Computing And Augmented Reality/Virtual Reality: A Systematic Review, Vishal Lakshminarayanan, Aswathy Ravikumar, Harini Sriraman, Sujatha Alla, Vijay Kumar Chattu
Engineering Management & Systems Engineering Faculty Publications
Intellectual capital is a scarce resource in the healthcare industry. Making the most of this resource is the first step toward achieving a completely intelligent healthcare system. However, most existing centralized and deep learning-based systems are unable to adapt to the growing volume of global health records and face application issues. To balance the scarcity of healthcare resources, the emerging trend of IoMT (Internet of Medical Things) and edge computing will be very practical and cost-effective. A full examination of the transformational role of intelligent edge computing in the IoMT era to attain health care equity is offered in this …
The Legal Stranger: Colorado's Two-Legal-Parent Limit Leaves Nontraditional Families Behind, Allison K. Dudley
The Legal Stranger: Colorado's Two-Legal-Parent Limit Leaves Nontraditional Families Behind, Allison K. Dudley
University of Colorado Law Review
No abstract provided.
Social Construction Of Race Undergirds Racism By Providing Undue Advantages To White People, Disadvantaging Black People And Other People Of Color, And Violating The Human Rights Of All People Of Color, Adjoa A. Aiyetoro
University of Colorado Law Review
No abstract provided.
Climate Change And Modern State Common Law Nuisance And Trespass Tort Claims, Jack Wold-Mcgimsey
Climate Change And Modern State Common Law Nuisance And Trespass Tort Claims, Jack Wold-Mcgimsey
University of Colorado Law Review
This Comment examines the use of state common law tort claims to address climate change. The aim of this work is not to provide an in-depth examination of these issues, but rather to provide a contextualized and comprehensive overview of some of the most important issues in this field using modern cases actively being litigated. This Comment comes to the conclusion that the future of common law nuisance and trespass claims in the context of climate change is, for now, unclear. Given the national and global implications of climate change, courts may find that isolated states cannot set binding precedents …
Separation Of Church And Law: The Ministerial Exception In Demkovich V. St. Andrew The Apostle Parish, Jonathan Murray
Separation Of Church And Law: The Ministerial Exception In Demkovich V. St. Andrew The Apostle Parish, Jonathan Murray
University of Colorado Law Review
Religious freedom is increasingly invoked to defeat liability for behavior that has long been regulated under accepted, neutral law, an argument to which many courts and judges appear receptive. One such area of law seeing this activity is the ministerial exception-a judicial principle recognized under the First Amendment. The ministerial exception guarantees religious organizations' discretion in how they select their "ministers,"or religious employees dedicated to the organization's religious mission. However, current law lacks clarity regarding the application of the exception to an organization's treatment of its ministers. Recently, the Seventh Circuit, sitting en banc, chose to categorically expand the application …
Characterization Of Propofol Use For Non-Procedural Sedation In A Pediatric Intensive Care Unit, Jenna Wood Bartlett, Brooke N Curry, Matthew A Musick, Megan Mckee Moore
Characterization Of Propofol Use For Non-Procedural Sedation In A Pediatric Intensive Care Unit, Jenna Wood Bartlett, Brooke N Curry, Matthew A Musick, Megan Mckee Moore
Faculty, Staff and Students Publications
OBJECTIVE: Given the limited literature describing propofol use in pediatric patients, this study aimed to describe the dosing and duration of propofol infusions for non-procedural sedation in the pediatric intensive care unit (PICU). The secondary objectives were to describe the change in concomitant sedative requirements from the 24-hour period before propofol initiation to the 24-hour period after discontinuation of propofol and to review the frequency of adverse events.
METHODS: This retrospective descriptive cohort study evaluated children 1 month to less than 18 years old who received a continuous infusion of propofol for non-procedural sedation in the PICU between May 2018 …
Insights: Qualitative Study To Reevaluate And Redesign Online Learning Self-Guided Tools For English First Year Writers Learning Self-Guided Tools For English First Year Writers, Nandi Prince
Publications and Research
The library faculty teaches approximately three hundred one-time instructional classes per year. This study explored the role of the library instructor in support of serving the needs of first-year writers (FYW) in a discourse community (DC). The English faculty teach English Composition I, the FYW develop their writing skills in a community with shared goals and an established means of communicating. This qualitative study explored: (1) in-depth experiences of the English faculty during library one-time instructional classes; (2) their perceptions of what students need most, in the new curriculum; (3) new findings that would guide the design of digital tools …
Soft X-Ray And Susceptibility Based Magnetic Resonance Imaging To Map Iron Distribution In Apples: Initial Results To Model Iron Storage In Water-Deficient Or Dehydrated Biological Tissue, Subhendra N. Sarkar, Eric Lobel, Evans Lespinasse, Zoya Vinokur, Analia Basilicata, Sonia Orellana, Maria Orellana, Aaliyah Salmon, Joanna Syska, Aravis Mcbroom, Jian Wang, Anam Riaz, Jodi-Ann Douglas
Soft X-Ray And Susceptibility Based Magnetic Resonance Imaging To Map Iron Distribution In Apples: Initial Results To Model Iron Storage In Water-Deficient Or Dehydrated Biological Tissue, Subhendra N. Sarkar, Eric Lobel, Evans Lespinasse, Zoya Vinokur, Analia Basilicata, Sonia Orellana, Maria Orellana, Aaliyah Salmon, Joanna Syska, Aravis Mcbroom, Jian Wang, Anam Riaz, Jodi-Ann Douglas
Publications and Research
Radiology departments have contributed significantly to greenhouse gases including release of toxic imaging contrast media to environment. We feel Radiology also has several spectroscopy and imaging tools that may apply to monitor and support cleaner environmental goals. The current manuscript is one of the firsts to prompt Radiology to move in that direction by non invasive imaging of bio metals that are less abundant in biological tissues but play key roles as co-factors in tissue structure and function. Conventional analytical tools are mostly invasive and cannot characterize the native oxidation states of bio metals. We chose carbohydrate matrix of metal-rich …
Ritual, Spectacle, And Theatre In Late Medieval Seville (Chapter 1), Christopher B. Swift
Ritual, Spectacle, And Theatre In Late Medieval Seville (Chapter 1), Christopher B. Swift
Publications and Research
From the fall of Islamic Išbīliya in 1248 to the conquest of the New World, Seville was a nexus of economic and religious power where interconfessional living among Christians, Jews, and Muslims was negotiated on public stages. From out of seemingly irreconcilable ideologies of faith, hybrid performance culture emerged in spectacles of miraculous transformation, disciplinary processionals, and representations of religious identity. Ritual, Spectacle, and Theatre in Late Medieval Seville reinvigorates the study of medieval Iberian theater by revealing the ways in which public expressions of devotion, penance, and power fostered cultural reciprocity, rehearsed religious difference, and ultimately helped establish Seville …
Lookism, Social Media, Beauty Prejudice, Diana Saiki, Alyssa Dana Adomaitis
Lookism, Social Media, Beauty Prejudice, Diana Saiki, Alyssa Dana Adomaitis
Publications and Research
"Lookism” is a term to describe appearance discriminationor “the practice of discrimination on the basis of physical appearance in the workplace” (Ghodrati, Joorabchi, & Muati, 2015, p.1). In popular literature, it has been called “beauty prejudice” (Etcoff, 1999, p. 1). The notion that a pleasing appearance results in favorable outcomes (e.g., higherwages, promotions) from others is not necessarily new, as literature on physical attractiveness is rather extensive. The Washington Post Magazine first used the term “lookism” in 1978 (e.g., Ayto, 1999), however, the term “lookism” was first recognized as a form of discrimination by authors of the Oxford English Dictionary …
Opportunities In Study Abroad: Planning, Steps And Suggestions, Diana Saiki, Alyssa Dana Adomaitis
Opportunities In Study Abroad: Planning, Steps And Suggestions, Diana Saiki, Alyssa Dana Adomaitis
Publications and Research
Faculty lead field studies are supported at most universities, but they can be time consuming and daunting to plan. The benefits of study abroad experiences have been well documented (Livingmore, 2011). There is growing evidence that short term faculty lead field studies provide a positive outlook on the fashion industry (Boorady, et al., 2016). Furthermore, these experience enhance students’“cultural intelligence” or the ability to communicate with diverse cultures and work well in diverse cultural settings (e.g., Livermore, 2011, Rolling,Presley, & Thornton, 2018). There is some literature on faculty lead international experiences study the apparel industry, such as El Salvador (e.g.Ha-Brookshire,2008). …
Family Structure And Child Behavior Problems In Australia, The United Kingdom, And The United States, Nina A. Stoddard-Bennett, Jordan Coburn, Mikaela J. Dufur, Jonathan A. Jarvis, Shana L. Pribesh
Family Structure And Child Behavior Problems In Australia, The United Kingdom, And The United States, Nina A. Stoddard-Bennett, Jordan Coburn, Mikaela J. Dufur, Jonathan A. Jarvis, Shana L. Pribesh
Educational Leadership & Workforce Development Faculty Publications
A large body of literature suggests that children living with two married, biological parents on average have fewer behavior problems than those who do not. What is less clear is why this occurs. Competing theories suggest that resource deficiencies and parental selectivity play a part. We suggest that examining different contexts can help adjudicate among different theoretical explanations as to how family structure relates to child behavior problems. In this paper, we use data from the Growing Up in Australia: Longitudinal Study of Australian Children (LSAC), the UK Millennium Cohort Study (MCS), and the US Early Childhood Longitudinal Study (ECLS-K) …
Enrollment Management Strategies At Rural Community Colleges Resulting From The Pandemic, Robin C. Daniel, Mitchell R. Williams, Kim E. Bullington
Enrollment Management Strategies At Rural Community Colleges Resulting From The Pandemic, Robin C. Daniel, Mitchell R. Williams, Kim E. Bullington
Educational Leadership & Workforce Development Faculty Publications
Higher education institutions around the world were impacted by the COVID-19 pandemic that began in early 2020. Because U.S. community colleges focus on two-year degrees and workforce development, they were affected differently than their four-year counterparts. This study examined how academic administrators at different rural community colleges in Virginia, United States, perceived enrollment management practices that were implemented or changed due to the pandemic. This sequential explanatory study's first phase was quantitative and measured mid- to senior-level administrators' views of how the pandemic affected their colleges' enrollment management practices. The second qualitative phase resulted in five themes surrounding COVID-related enrollment …
Sex Exceptionalism In Criminal Law, Aya Gruber
Sex Exceptionalism In Criminal Law, Aya Gruber
Publications
Sex crimes are the worst crimes. People generally believe that sexual assault is graver than nonsexual assault, uninvited sexual compliments are worse than nonsexual insults, and sex work is different from work. Criminal codes typically create a dedicated category for sex offenses, uniting under its umbrella conduct ranging from violent attacks to consensual commercial transactions. This exceptionalist treatment of sex as categorically different rarely elicits discussion, much less debate. Sex exceptionalism, however, is neither natural nor neutral, and its political history should give us pause. This Article is the first to trace, catalog, and analyze sex exceptionalism in criminal law …
Tribal Air, Jonathan Skinner-Thompson
Tribal Air, Jonathan Skinner-Thompson
Publications
Prevailing approaches to addressing environmental justice in Indian Country are inadequate. The dual pursuits of distributive and procedural justice do not fully account for the unique factors that make Indigenous environmental justice distinct—namely, the sovereign status of tribal nations and the ongoing impacts of colonization.
This Article synthetizes interdisciplinary approaches to theorizing Indigenous environmental justice and proposes a framework to aid environmental law scholars and advocates. Specifically, by centering Indigenous environmental justice in terms of coloniality and self-determination, this framework can better critique and improve environmental governance regimes when it comes to pollution in Indian Country.
This Article tests that …
Standard Deviations Of Mr Signal Intensities Show A Consistent Trend During Imaging Follow-Ups For Glioblastoma Patients When Corrected For Non-Biological Heterogeneity Due To Hardware And Software Variation, Subhendra N. Sarkar, Rafael Rojas, Evans Lespinasse, Xiangfu Zhang, Ruth Zeron
Standard Deviations Of Mr Signal Intensities Show A Consistent Trend During Imaging Follow-Ups For Glioblastoma Patients When Corrected For Non-Biological Heterogeneity Due To Hardware And Software Variation, Subhendra N. Sarkar, Rafael Rojas, Evans Lespinasse, Xiangfu Zhang, Ruth Zeron
Publications and Research
Introduction
Glioblastoma multiforme (GBM) has a poor prognosis in spite of advanced MRI guided treatments today. Routine MRI using conventional T1 or advanced permeability based MRI of GBM often does not adequately represent changing tumor phases or overall survival. In this work, region of interest (ROI) based tissue MR standard deviation (SD) is demonstrated as an important MRI variable that could be a potential biomarker of GBM heterogeneity and radioresistance.
Materials and methods
MRI characterization is often qualitative and lacks reproducibility. Using standardized MRI phantoms we have normalized retrospective records of 12 radioresistant GBM patients that underwent radiation therapy …
Soft X-Ray And Susceptibility Based Magnetic Resonance Imaging To Map Iron Distribution In Apples: Initial Results To Model Iron Storage In Water-Deficient Or Dehydrated Biological Tissue, Subhendra Sarkar, Eric Lobel, Evans Lespinasse, Zoya Vinokur, Analia Basilicata, Sonia Orellana, Maria Orellana, Aaliyah Salmon, Joanna Syska, Aravis Mcbroom, Jian Wang, Anam Riaz, Jody-Ann Douglas
Soft X-Ray And Susceptibility Based Magnetic Resonance Imaging To Map Iron Distribution In Apples: Initial Results To Model Iron Storage In Water-Deficient Or Dehydrated Biological Tissue, Subhendra Sarkar, Eric Lobel, Evans Lespinasse, Zoya Vinokur, Analia Basilicata, Sonia Orellana, Maria Orellana, Aaliyah Salmon, Joanna Syska, Aravis Mcbroom, Jian Wang, Anam Riaz, Jody-Ann Douglas
Publications and Research
Radiology departments have contributed significantly to greenhouse gases including release of toxic imaging contrast media to environment. We feel Radiology also has several spectroscopy and imaging tools that may apply to monitor and support cleaner environmental goals. The current manuscript is one of the firsts to prompt Radiology to move in that direction by non-invasive imaging of bio metals that are less abundant in biological tissues but play key roles as co-factors in tissue structure and function. Conventional analytical tools are mostly invasive and cannot characterize the native oxidation states of bio metals. We chose carbohydrate matrix of metal-rich fruits …
Mathematics Preparatory Workshops To Foster Student Success, Sandie Han, Diana Samaroo, Janet Liou-Mark, Lauri Aguirre
Mathematics Preparatory Workshops To Foster Student Success, Sandie Han, Diana Samaroo, Janet Liou-Mark, Lauri Aguirre
Publications and Research
Mathematics preparatory workshops were offered to college students at a diverse urban undergraduate institution. The goal was to prepare students for their mathematics course, by offering non-credit bearing and free preparatory workshops. The lack of adequate preparation for mathematics courses is a barrier for student engagement in future STEM courses. We believe that by providing preparatory workshops, we can improve not only the success but access for students in foundational mathematics courses. The workshops allowed students to engage with the course content in a rigorous and intensive manner prior to the start of the semester. Students who participated in the …
Examining Sociodemographic Correlates Of Opioid Use, Misuse, And Use Disorders In The All Of Us Research Program, Hsueh-Han Yeh, Cathryn Peltz-Rauchman, Christine C Johnson, Pamala A Pawloski, David Chesla, Stephen C Waring, Alan B Stevens, Mara Epstein, Christine Joseph, Lisa R Miller-Matero, Hongsheng Gui, Amy Tang, Eric Boerwinkle, Mine Cicek, Cheryl R Clark, Elizabeth Cohn, Kelly Gebo, Roxana Loperena, Kelsey Mayo, Stephen Mockrin, Lucila Ohno-Machado, Sheri Schully, Andrea H Ramirez, Jun Qian, Brian K Ahmedani
Examining Sociodemographic Correlates Of Opioid Use, Misuse, And Use Disorders In The All Of Us Research Program, Hsueh-Han Yeh, Cathryn Peltz-Rauchman, Christine C Johnson, Pamala A Pawloski, David Chesla, Stephen C Waring, Alan B Stevens, Mara Epstein, Christine Joseph, Lisa R Miller-Matero, Hongsheng Gui, Amy Tang, Eric Boerwinkle, Mine Cicek, Cheryl R Clark, Elizabeth Cohn, Kelly Gebo, Roxana Loperena, Kelsey Mayo, Stephen Mockrin, Lucila Ohno-Machado, Sheri Schully, Andrea H Ramirez, Jun Qian, Brian K Ahmedani
Faculty, Staff and Student Publications
Background: The All of Us Research Program enrolls diverse US participants which provide a unique opportunity to better understand the problem of opioid use. This study aims to estimate the prevalence of opioid use and its association with sociodemographic characteristics from survey data and electronic health record (EHR).
Methods: A total of 214,206 participants were included in this study who competed survey modules and shared EHR data. Adjusted logistic regressions were used to explore the associations between sociodemographic characteristics and opioid use.
Results: The lifetime prevalence of street opioids was 4%, and the nonmedical use of prescription opioids was 9%. …
Editorial: Advances In Mathematical And Computational Oncology, Volume Iii, George Bebis, Mamoru Kato, Mohammad Kohandel, Kathleen Wilkie, Dinler A Antunes, Ken Chen, Jinzhuang Dou
Editorial: Advances In Mathematical And Computational Oncology, Volume Iii, George Bebis, Mamoru Kato, Mohammad Kohandel, Kathleen Wilkie, Dinler A Antunes, Ken Chen, Jinzhuang Dou
Faculty, Staff and Student Publications
No abstract provided.
Editorial: Women In Molecular And Cellular Oncology, Petranel T Ferrao, Laura Rosanò, Valeria Poli, Shilpa S Dhar, Ana Paula Lepique
Editorial: Women In Molecular And Cellular Oncology, Petranel T Ferrao, Laura Rosanò, Valeria Poli, Shilpa S Dhar, Ana Paula Lepique
Faculty, Staff and Student Publications
No abstract provided.
Editorial: Women In Molecular And Cellular Oncology, Volume Ii: 2022, Shilpa S Dhar
Editorial: Women In Molecular And Cellular Oncology, Volume Ii: 2022, Shilpa S Dhar
Faculty, Staff and Student Publications
No abstract provided.
The Importance Of "When" In Calorie Restriction-Induced Lifespan Extension, Kristin Eckel-Mahan
The Importance Of "When" In Calorie Restriction-Induced Lifespan Extension, Kristin Eckel-Mahan
Faculty, Staff and Student Publications
No abstract provided.
A Case Of Successful Treatment Of Recurrent Urinary Tract Infection By Extended-Spectrum Β-Lactamase Producing Klebsiella Pneumoniae Using Oral Lyophilized Fecal Microbiota Transplant, Naomi Bier, Blake Hanson, Zhi-Dong Jiang, Herbert L Dupont, Cesar A Arias, William R Miller
A Case Of Successful Treatment Of Recurrent Urinary Tract Infection By Extended-Spectrum Β-Lactamase Producing Klebsiella Pneumoniae Using Oral Lyophilized Fecal Microbiota Transplant, Naomi Bier, Blake Hanson, Zhi-Dong Jiang, Herbert L Dupont, Cesar A Arias, William R Miller
Faculty, Staff and Student Publications
Recurrent urinary tract infections (UTIs) are a challenging clinical entity that can be frustrating for patient and physician alike. Repeated rounds of antibiotics can select for multidrug-resistant organisms, further complicating care. We describe the successful use of fecal microbiota transplantation (FMT) for the treatment of recurrent extended-spectrum β-lactamase (ESBL)-producing Klebsiella pneumoniae UTIs in a patient with an ileal conduit and urostomy. In the 18 months after FMT, the patient had not experienced new infections with ESBL-producing organisms. The urine and stool microbiomes of the patient were tracked before and post-FMT using 16s RNA sequencing with measurement of α-diversity. Sequencing of …
Editorial: The Interplay Between Microbiota And Allergen In Shaping Respiratory Mucosa Immunity: Role In Development Of Asthma, Zhenwei Xia, Wenwei Zhong, Min Wu, Scott E Evans
Editorial: The Interplay Between Microbiota And Allergen In Shaping Respiratory Mucosa Immunity: Role In Development Of Asthma, Zhenwei Xia, Wenwei Zhong, Min Wu, Scott E Evans
Faculty, Staff and Student Publications
No abstract provided.
Targeted Genomic Sequencing Of Tsc1 And Tsc2 Reveals Causal Variants In Individuals For Whom Previous Genetic Testing For Tuberous Sclerosis Complex Was Normal, Hannah D West, Mark Nellist, Rutger W W Brouwer, Mirjam C G N Van Den Hout-Van Vroonhoven, Luiz Gustavo Dufner De Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M Alfano, Angela Peron, Yves Sznajer, Liesbeth De Waele, Anna Jansen, Marije Koopmans, Anneke Kievit, Laura S Farach, Hope Northrup, Julian R Sampson, Laura E Thomas, Wilfred F J Van Ijcken
Targeted Genomic Sequencing Of Tsc1 And Tsc2 Reveals Causal Variants In Individuals For Whom Previous Genetic Testing For Tuberous Sclerosis Complex Was Normal, Hannah D West, Mark Nellist, Rutger W W Brouwer, Mirjam C G N Van Den Hout-Van Vroonhoven, Luiz Gustavo Dufner De Almeida, Femke Hendriks, Peter Elfferich, Meera Raja, Peter Giles, Rosa M Alfano, Angela Peron, Yves Sznajer, Liesbeth De Waele, Anna Jansen, Marije Koopmans, Anneke Kievit, Laura S Farach, Hope Northrup, Julian R Sampson, Laura E Thomas, Wilfred F J Van Ijcken
Faculty, Staff and Student Publications
Tuberous sclerosis complex (TSC) is caused by inactivating variants in TSC1 and TSC2. Somatic mosaicism, as well as the size and complexity of the TSC1 and TSC2 loci, makes variant identification challenging. Indeed, in some individuals with a clinical diagnosis of TSC, diagnostic testing fails to identify an inactivating variant. To improve TSC1 and TSC2 variant detection, we screened the TSC1 and TSC2 genomic regions using targeted HaloPlex custom capture and next-generation sequencing (NGS) in genomic DNA isolated from peripheral blood of individuals with definite, possible or suspected TSC in whom no disease-associated variant had been identified by previous …