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Articles 1291 - 1320 of 322716

Full-Text Articles in Medicine and Health Sciences

Kickin' It Old School: Connecting The Ages, Elyssia Lambert Jul 2026

Kickin' It Old School: Connecting The Ages, Elyssia Lambert

Occupational Therapy Student Capstones

Problem Statement

Lack of social participation is associated with negative impacts on QoL in individuals with dementia

Lack of awareness and knowledge of OT as a career option


Connection For All: Supporting Neurodivergent-Accessible Sex And Dating Education, Emma Martinho Jul 2026

Connection For All: Supporting Neurodivergent-Accessible Sex And Dating Education, Emma Martinho

Occupational Therapy Student Capstones

While engaging in sexuality and dating are expressed interests for neurodivergent young adults, there is a lack of support limiting their participation.


Supporting The Transition: A Summer Camp Model For Students With Adhd Entering Middle School, Anna G. Schene Jul 2026

Supporting The Transition: A Summer Camp Model For Students With Adhd Entering Middle School, Anna G. Schene

Occupational Therapy Student Capstones

Students transitioning from elementary school to middle school experience newfound independence, requiring sufficiency in their executive functioning skills. The school-based OT service delivery does not always include or target this population, leaving students without the support needed to develop these skills.


Unequal Access, Unmet Needs: Rethinking Occupational Therapy In Private Practice, Meghan Smith Jul 2026

Unequal Access, Unmet Needs: Rethinking Occupational Therapy In Private Practice, Meghan Smith

Occupational Therapy Student Capstones

Individuals from low-SES backgrounds often experience barriers to occupational therapy services, while private practitioners face challenges balancing accessibility with financial sustainability. These challenges underscore the need to better prepare future occupational therapists to provide equitable, accessible, and sustainable services within private practice.


Learn As You Are: Equipping Key Educational Stakeholders With Neuro-Affirming Knowledge To Support Inclusion Of Autistic Students, Jessalyn Sulamo Jul 2026

Learn As You Are: Equipping Key Educational Stakeholders With Neuro-Affirming Knowledge To Support Inclusion Of Autistic Students, Jessalyn Sulamo

Occupational Therapy Student Capstones

Students throughout the autism spectrum often experience challenges relating to social and communication difficulties, sensory challenges, and inflexible approaches that hinder their social, emotional, and academic well-being (Black et al., 2024).


Clinician Perspective And Uses Of Technology In Neurological Home Health Rehabilitation: A Quality Improvement Project, Sean Sullinger Jul 2026

Clinician Perspective And Uses Of Technology In Neurological Home Health Rehabilitation: A Quality Improvement Project, Sean Sullinger

Occupational Therapy Student Capstones

Despite advancements in technology-based intervention systems and supporting evidence on its benefits, rehabilitation clinicians often demonstrate minimal adoption rates in practice due to a lack of training, device access, and confidence in implementation skills leading to impacts on intervention variability in practice.


The Effect Of The Continuous Care Model On Self-Practices And Quality Of Life Among Preeclamptic Women, Amira Ahmed Altweel, Salma Abd-Elatty Moawed, Amr Mahmoud Riad, Shaimaa Hassan Mohamady Jul 2026

The Effect Of The Continuous Care Model On Self-Practices And Quality Of Life Among Preeclamptic Women, Amira Ahmed Altweel, Salma Abd-Elatty Moawed, Amr Mahmoud Riad, Shaimaa Hassan Mohamady

Nursing

No abstract provided.


Dnp Final Report: Implementing The 5-2-1-0 Lifestyle Framework To Address Elevated Bmi In Pediatric Primary Care, Mary K. Williams Jul 2026

Dnp Final Report: Implementing The 5-2-1-0 Lifestyle Framework To Address Elevated Bmi In Pediatric Primary Care, Mary K. Williams

DNP Final Reports

Pediatric obesity remains a significant public health concern, particularly in rural areas where access to specialty care is limited. Primary care settings provide an important opportunity for early identification and intervention through family-based lifestyle modification. The purpose of this quality improvement project was to evaluate the feasibility and preliminary impact of implementing the 5-2-1-0 healthy habits framework, developed by researchers at Penn State, in a rural pediatric primary care clinic to promote improved lifestyle behaviors among children with elevated body mass index (BMI).

This project included pediatric patients ages 5–16 years presenting for well-child visits with a BMI at or …


Breaking Barriers: Empowering Mothers Through Occupation-Based Education, Jessica J. Valencia, Justine Faghihifar, Wendy Tremaine Jul 2026

Breaking Barriers: Empowering Mothers Through Occupation-Based Education, Jessica J. Valencia, Justine Faghihifar, Wendy Tremaine

Summer 2026 OTD Capstone Symposium

This capstone project evaluated the implementation of an occupational therapy-informed educational program for mothers, with children under the age of 18, who have experienced intimate partner violence at Genesis Women's Shelter & Support. The purpose of the project was to promote occupational engagement through education focused on stress management, sleep and rest, routines and habits, memory and attention, parenting and communication, and leisure participation. A needs assessment informed the development of a six-week bilingual intervention consisting of group and individual sessions. Program outcomes were evaluated using pre- and post-intervention assessments, participant feedback, and clinical observations. The project demonstrated improvements in …


Empowering Independence For Young Adults With Disabilities, Grace Sloan, Wendy Tremaine Jul 2026

Empowering Independence For Young Adults With Disabilities, Grace Sloan, Wendy Tremaine

Summer 2026 OTD Capstone Symposium

Young adults with disabilities often face challenges in maintaining and finding employment, living independently, and participating socially. The purpose of this capstone project was to develop a program to enhance job readiness, independent living, and social participation skills for young adults with disabilities. This project highlighted the need for occupation-based activities to support the transition from high school to adulthood for young adults with disabilities.


Empowering Amputees Through Education And Resources To Improve Independence And Quality Of Life, Brooke A. Hodges, Wendy M. Tremaine Jul 2026

Empowering Amputees Through Education And Resources To Improve Independence And Quality Of Life, Brooke A. Hodges, Wendy M. Tremaine

Summer 2026 OTD Capstone Symposium

This doctoral capstone project aimed to develop and implement an evidence-based educational toolkit to increase community resource awareness for individuals with amputations. The project was completed at Baylor Scott & White Institute for Rehabilitation in Dallas, Texas, and involved adult patients with limb loss and rehabilitation healthcare professionals. A needs assessment was conducted using surveys, semi-structured interviews, and informal discussions to identify educational gaps and resource needs. Findings informed the development of educational materials addressing mental health, peer support, financial assistance, transportation, driving rehabilitation, home modifications, adaptive recreation, prosthetic resources, and community organizations. The toolkit was designed to accommodate varying …


Using Creative Arts In Occupational Therapy To Address Motor And Nonmotor Symptoms Of Neurodegenerative Disorders, Elizabeth L. Batista, Kristin Domville, Pam Kasyan-Howe Jul 2026

Using Creative Arts In Occupational Therapy To Address Motor And Nonmotor Symptoms Of Neurodegenerative Disorders, Elizabeth L. Batista, Kristin Domville, Pam Kasyan-Howe

Summer 2026 OTD Capstone Symposium

Neurodegenerative disorders (NDD), including Parkinson's disease, Alzheimer's disease, multiple sclerosis, and amyotrophic lateral sclerosis, significantly impact motor function, cognition, self-esteem, and occupational engagement. Although creative arts interventions have demonstrated psychosocial benefits, there is limited research examining visual arts as an occupational therapy-led modality addressing both motor and nonmotor symptoms through meaningful occupation (Gros et al., 2024; Li et al., 2024; Chancellor et al., 2014).
This capstone project developed and implemented an OT-led creative arts program utilizing painting as the primary intervention for individuals with NDD residing in an assisted living facility and/or attending an adult day center. Guided by MOHO, …


Advocacy For Inclusive Play In South Dallas: Expanding Access For Children In Underserved Areas, Aryanna Fellows, Mary Jan Greer Jul 2026

Advocacy For Inclusive Play In South Dallas: Expanding Access For Children In Underserved Areas, Aryanna Fellows, Mary Jan Greer

Summer 2026 OTD Capstone Symposium

This capstone project aimed to advocate for more inclusive and accessible playgrounds for children of all abilities in underserved communities in South Dallas. Guided by the Person-Environment-Occupation-Performance (PEOP) Model, the project evaluated playground accessibility and identified environmental barriers that limit participation for children with disabilities. Methods included a community needs assessment, playground observations using a standardized accessibility assessment tool, surveys, and stakeholder collaboration. Participants included community members, caregivers, organizational stakeholders, and children who utilize local playgrounds. Findings were synthesized to develop evidence-based recommendations and educational resources to support future playground improvements. The expected outcomes included increased awareness of inclusive playground …


Calm, Confident, Capable: An Educational Manual To Support Effective Oral Care For Children With Autism, Jared D. Morgan, Leah I. Stein Duker, Carrie Alvarado, Angela Labrie Blackwell Jul 2026

Calm, Confident, Capable: An Educational Manual To Support Effective Oral Care For Children With Autism, Jared D. Morgan, Leah I. Stein Duker, Carrie Alvarado, Angela Labrie Blackwell

Summer 2026 OTD Capstone Symposium

Dental health professionals report limited confidence, perceived competence, and preparedness when providing oral health care to autistic children, which can significantly impact patient participation, quality of care, and overall dental experience. Autistic children are more likely to have dental conditions compared to their neurotypical peers. The methods of this project consisted of four phases being development, preview, revision, and dissemination. The purpose of this project was to develop an educational manual that provides dental health professionals with practical knowledge, skills, and abilities to address the needs of autistic children, to ensure effective oral health care. The expected outcomes of this …


Navigating Concussion Recovery: An Educational Module-Based Approach To Strengthening Occupational Therapist Confidence And Effectiveness In Concussion Rehabilitation, Alejandra Abella, Wendy Tremaine Jul 2026

Navigating Concussion Recovery: An Educational Module-Based Approach To Strengthening Occupational Therapist Confidence And Effectiveness In Concussion Rehabilitation, Alejandra Abella, Wendy Tremaine

Summer 2026 OTD Capstone Symposium

Background: Mild traumatic brain injury (mTBI), commonly known as concussion, presents with complex physical, cognitive, visual, vestibular, and emotional symptoms that can significantly affect an individual's ability to participate in meaningful daily occupations. Although occupational therapists play an essential role in concussion rehabilitation, many clinicians report that confidence in evaluating and treating this population develops primarily through years of clinical experience rather than structured education. Inconsistent exposure to concussion cases and limited access to current evidence-based resources contribute to variations in clinical confidence and practice.

Purpose: The purpose of this doctoral capstone project was to develop and implement a comprehensive …


Occupational Therapy Education In A Changing Climate, Elizabeth Ballenger, Amy Lyons-Brown, Elizabeth Richardson Jul 2026

Occupational Therapy Education In A Changing Climate, Elizabeth Ballenger, Amy Lyons-Brown, Elizabeth Richardson

Summer 2026 OTD Capstone Symposium

This doctoral capstone explored how occupational therapy can strengthen its response to climate change and planetary health through education, collaboration, and organizational development. In partnership with SOTER and Project PrOTect, the project used literature review, needs assessment, stakeholder engagement, and interdisciplinary learning to develop strategic frameworks, educational resources, and digital dissemination tools. The project emphasized building organizational capacity, expanding occupational therapy’s role in planetary health, and leveraging international collaboration to support sustainable, occupation-centered action.


Supporting Participation Through Sensory Inclusion, Karla Bonilla, Jazminne Orozco Arteaga Jul 2026

Supporting Participation Through Sensory Inclusion, Karla Bonilla, Jazminne Orozco Arteaga

Summer 2026 OTD Capstone Symposium

This capstone project focused on promoting sensory-inclusive environments to support play and social participation among autistic children. The project was conducted in partnership with Straight From The Heart, a foster care organization in San Diego County. A community profile, literature review, and needs assessment were completed using caregiver and social worker surveys and semi-structured interviews with community organization professionals to identify environmental barriers, caregiver education needs, and resource priorities. The findings informed the development of sensory-inclusive educational resources and educational workshop. Stakeholder feedback was used to refine the resources and evaluate their perceived relevance and usefulness. The project highlights the …


Beyond The Athlete: An Autoethnographic Exploration Of Occupational Identity, Sofia Paniagua-Bauer, Karen Park Jul 2026

Beyond The Athlete: An Autoethnographic Exploration Of Occupational Identity, Sofia Paniagua-Bauer, Karen Park

Summer 2026 OTD Capstone Symposium

Adolescent student-athletes experience unique demands as they navigate the expectations of competitive sport alongside academic, social, and developmental responsibilities. These demands may influence mental health, executive functioning, occupational balance, and the development of occupational identity. The purpose of this Doctor of Occupational Therapy (OTD) capstone project was to explore the development of occupational identity through the lived experience of growing up as a competitive athlete and to examine how participation in sport influenced mental health, self-regulation, executive functioning, and engagement in meaningful occupations. An autoethnographic approach was used to reflect on my personal experiences while completing a capstone experience at …


Supporting Firefighter Families: Addressing Occupational Disruptions Through An Occupation-Centered Approach, Tiana M. Gomez, Jazminne Orozco Arteaga, Karen Park Jul 2026

Supporting Firefighter Families: Addressing Occupational Disruptions Through An Occupation-Centered Approach, Tiana M. Gomez, Jazminne Orozco Arteaga, Karen Park

Summer 2026 OTD Capstone Symposium

Firefighting involves long shifts, unpredictable schedules, sleep disruption, and repeated exposure to occupational stressors that may affect not only firefighters but also their families. This doctoral capstone examined how the occupational demands of firefighting influence family roles, routines, habits, participation, and overall well-being. A convergent mixed-methods study included active or retired firefighters (n = 18) and adult firefighter family members (n = 10), with three participants also completing optional semi-structured interviews. Quantitative survey data were analyzed descriptively, while interview transcripts and open-ended responses were analyzed thematically using the Model of Human Occupation as a guiding framework. Findings demonstrated disruptions in …


U.S. Cardiovascular Mortality Before And During Covid-19: Cdc Wonder Vs Gbd Comparison, Mirza Ali Baig, Muhammad Umar, Carol Becker, Salim S. Virani, Dmitry Abramov, Xiaoming Jia, Abdul Minhas Jul 2026

U.S. Cardiovascular Mortality Before And During Covid-19: Cdc Wonder Vs Gbd Comparison, Mirza Ali Baig, Muhammad Umar, Carol Becker, Salim S. Virani, Dmitry Abramov, Xiaoming Jia, Abdul Minhas

Population Health, East Africa

No abstract provided.


Improving Continuity Of Care: Evaluating Universal Nursing Handoff Sheets, Elizabeth Ifeloluwa Sanya Jul 2026

Improving Continuity Of Care: Evaluating Universal Nursing Handoff Sheets, Elizabeth Ifeloluwa Sanya

Doctor of Nursing Practice Posters and Presentations

Effective communication during nursing handoffs is essential for safe, patient-centered care, as breakdowns in communication are a leading cause of adverse patient outcomes. At a large academic level I trauma center, inconsistent nursing handoff practices were identified across progressive care units following the COVID-19 pandemic. This variability contributed to incomplete transfer of patient information and was associated with increased patient safety incidents, including delayed wound care, central line dressing lapses, and medication errors involving high-alert therapies. The purpose of this DNP project was to plan, implement, and evaluate the use of  standardized nursing handoff sheet and its impact on continuity …


Interaction Of Mitochondrial Bioenergetics With Nephropathy And Hepatic Insufficiency In Diabetic/ Obesity C57bl/6 Mouse Model, Oyinkansola Mudasiru, Vivian Etugbo, Bhuvana L. Chandrashekar, Reginald Adiele, Ramiro Cisneros Jul 2026

Interaction Of Mitochondrial Bioenergetics With Nephropathy And Hepatic Insufficiency In Diabetic/ Obesity C57bl/6 Mouse Model, Oyinkansola Mudasiru, Vivian Etugbo, Bhuvana L. Chandrashekar, Reginald Adiele, Ramiro Cisneros

School of Podiatric Medicine - Student Research

Introduction/Purpose: Obesity has become an epidemic with over six million adult individuals affected by this metabolic condition, and it is associated with over 40% of deaths worldwide. Diabetic kidney disease (DKD) is a major cause of kidney disease globally and it is a major cause of mortalities associated with diabetes. In DKD, impaired glucose regulation results in hyperglycemia-induced metabolic dysfunction that culminate in abnormal energy utilization and mitochondrial dysfunction and play critical role in the pathogenesis of DKD. Incidentally, mitochondrial functions and dynamics are impaired in liver insufficiencies of multiple origins. Prevention of triglyceride and lipotoxic accumulations by hepatic mitochondria …


Risk Factors And Implications Of The Unplanned Shunt In Carotid Endarterectomy, Luisa Trujillo-Guerrero, Camilo Ramírez-Giraldo, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Margaret L Jackson, Shah-Jahan Dodwad, S Keisin Wang Jul 2026

Risk Factors And Implications Of The Unplanned Shunt In Carotid Endarterectomy, Luisa Trujillo-Guerrero, Camilo Ramírez-Giraldo, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Margaret L Jackson, Shah-Jahan Dodwad, S Keisin Wang

Faculty, Staff and Student Publications

Background: The implications of intraoperative shunting during carotid endarterectomy (CEA) have been studied often with variable recommendations. While some surgeons favor routine shunting to minimize cerebral hypoperfusion, others reserve shunting based on intraoperative monitoring or high-risk clinical features. Predictors of shunt need not remain poorly defined. This study aimed to identify risk factors associated with overall shunt use and unplanned shunting in patients undergoing CEA.

Methods: We performed a retrospective review of a prospectively maintained large academic United States-based health system carotid surgery database between December 2004 and June 2024. Patients were stratified into two groups: procedures performed in absence …


Clinical Outcomes Of Patients Transitioned From Veno-Arterial Extracorporeal Membrane Oxygenation To Biventricular Support, Kenny Lu, Zachary Onsinyo, Sophia Gormas, Bryan D. Nelson Mba, Cphq, Nrp, James K. Wu Md Jul 2026

Clinical Outcomes Of Patients Transitioned From Veno-Arterial Extracorporeal Membrane Oxygenation To Biventricular Support, Kenny Lu, Zachary Onsinyo, Sophia Gormas, Bryan D. Nelson Mba, Cphq, Nrp, James K. Wu Md

Research Scholars

No abstract provided.


Demographic And Socioeconomic Factors Associated With Pediatric Cochlear Implantation: A 10-Year Retrospective Study, Julia Finley, Michael Mcglone Md, Sri Kiran Chennupati Md Jul 2026

Demographic And Socioeconomic Factors Associated With Pediatric Cochlear Implantation: A 10-Year Retrospective Study, Julia Finley, Michael Mcglone Md, Sri Kiran Chennupati Md

Research Scholars

No abstract provided.


July 2026, Swosu Bulldog Wellness Committee Jul 2026

July 2026, Swosu Bulldog Wellness Committee

SWOSU BULLDOG WELLNESS

Community & Connection Month

July is Community & Connection Month, a time to focus on building relationships, strengthening connections, and supporting one another. Whether it’s with friends, family, coworkers, or your campus community, meaningful connections play an important role in overall wellness. Strong social connections can improve mood, reduce stress, and help you feel more supported in everyday life.


Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown Jul 2026

Incidence And Outcomes Of Treatment-Associated Hepatotoxicity During Pediatric Acute Lymphoblastic Leukemia Induction Therapy: A Reducing Ethnic Disparities In Acute Leukemia (Redial) Consortium Report, Ashley N Chavana, Emily J Mason, John P Woodhouse, Olga A Taylor, Monica M Gramatges, Joanna S Yi, Sandi Pruitt, M Brooke Bernhardt, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Marley Roberts, Rodrigo Erana, Juan Carlos Bernini, Hong Zhu, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Steven D Mittelman, Van Huynh, Etan Orgel, Austin L Brown

Faculty, Staff and Students Publications

No abstract provided.


Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta Jul 2026

Nuclear-Specific Reductive Carboxylation Of Alpha-Ketoglutarate Fuels Histone Acetylation To Induce Chromatin Accessibility And Gene Activation, Abhisha Sawant Dessai, Nadya A Elhalawany, Tao Dai, Justine J Jacobi, Christian Prechtl, Alphonse N Dimeck, Sierra R Morton, Mark D Long, Prashant K Singh, Nagireddy Putluri, Mariana Lopes, Song Liu, Dominic J Smiraglia, Katerina V Gurova, Peder J Lund, Leah A Gates, Sung Yun Jung, Subhamoy Dasgupta

Faculty, Staff and Students Publications

Mitochondria remain at the core of cell metabolism, whereas the nucleus integrates cellular and environmental signals to activate genes. However, the mechanisms that directly link cellular metabolism to gene regulation are not well understood. Here we show, a metabolic pathway in the nucleus controls acetylation of histones by nuclear localization of mitochondrial enzymes aconitase (ACO2) and isocitrate dehydrogenase (IDH2). Metabolic tracing studies show that IDH2 and ACO2 catalyze reductive carboxylation of α-ketoglutarate to rapidly synthesize citrate to increase nuclear acetyl-CoA pool. Genetic and proteomic analyses reveal nuclear IDH2 and ACO2 form a complex with KAT2A/GCN5 for acetylation of histones to …


Genetics Of Cerebrotendinous Xanthomatosis, Jennifer Hanson, Penelope E Bonnen Jul 2026

Genetics Of Cerebrotendinous Xanthomatosis, Jennifer Hanson, Penelope E Bonnen

Faculty, Staff and Students Publications

Cerebrotendinous xanthomatosis (CTX) is rare, autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in CYP27A1, which encodes sterile 27 hydroxylase, a key enzyme in bile acid biosynthesis. Enzyme deficiency results in reduced cholic and chenodeoxycholic acid synthesis with accumulation of cholestanol, bile acid intermediates, and bile alcohols, producing a progressive multisystem disorder characterized by chronic diarrhea, juvenile-onset cataracts, tendons xanthomas, and neurological dysfunction. Although CTX typically begins in childhood, diagnosis is frequently delayed until adulthood, limiting the benefit of effective disease modifying therapy with chenodeoxycholic acid. Since the identification of CYP27A1, more than 200 pathogenic variants have …


Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira Jul 2026

Evidence-Based Classification Of Genes Implicated In Skeletal Disorders Using The Clingen Curation Framework, Ryan F Webb, Hannah Mccurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina Distefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira

Faculty, Staff and Students Publications

More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework …