Open Access. Powered by Scholars. Published by Universities.®

Digital Commons Network™

Open Access. Powered by Scholars. Published by Universities.®

Discipline
Institution
Keyword
Publication Year
Publication
Publication Type
File Type

Articles 36601 - 36630 of 933496

Full-Text Articles in Entire DC Network

Under Pressure Aug 2025

Under Pressure

Journal of Social Care

No abstract provided.


Based In Pakistan, A Global University For Muslims - Interview With The Aga Khan Aug 2025

Based In Pakistan, A Global University For Muslims - Interview With The Aga Khan

University press releases and calendars

No abstract provided.


Addressing The Occupational Therapy Faculty Shortage: A Capstone Experience In Academic Administration At Nova Southeastern University, Tiesha N. Henley Aug 2025

Addressing The Occupational Therapy Faculty Shortage: A Capstone Experience In Academic Administration At Nova Southeastern University, Tiesha N. Henley

Department of Occupational Therapy Entry-Level Capstone Projects

The project aimed to address the critical shortage of occupational therapy faculty by understanding and mitigating factors that contribute to this shortage, ultimately strengthening recruitment pipelines and supporting long-term faculty development within a graduate-level occupational therapy program. I developed a pamphlet outlining concrete resources and strategies to attract and retain qualified educators. Additionally, I engaged in the daily responsibilities of a full-time OT faculty member by contributing to course instruction and creating graduate-level learning materials.


The Minutes Of The Marshall University Board Of Governors Meeting, August 05, 2025, Marshall University Board Of Governors Aug 2025

The Minutes Of The Marshall University Board Of Governors Meeting, August 05, 2025, Marshall University Board Of Governors

Board of Governors Minutes

No abstract provided.


Turning The Tables With Tech: Scambaiting Tools And Their Applications, Doetri Ghosh, Tatiana Renae Ringenberg Aug 2025

Turning The Tables With Tech: Scambaiting Tools And Their Applications, Doetri Ghosh, Tatiana Renae Ringenberg

Discovery Undergraduate Interdisciplinary Research Internship

Online financial scams have become increasingly complex, utilizing fake social media accounts, remote access tools, deepfake recordings, and other advanced scamming tactics. In response, a growing community of scambaiters have matched this technological sophistication, in their efforts to disrupt the scam ecosystem. Various tools are used throughout scambaiting sessions, where proper use of technology is essential for success. Limited research exists on the changing needs and tools involved in scambaiting. This study bridges this gap by conducting an exploratory qualitative analyses of 250 posts from the Reddit group r/Scambait. We explore various aspects of technology use, specifically looking into recommendations …


Transcendental Formulas For The Coefficients Of Ramanujan's Mock Theta Functions, Gradin Anderson Aug 2025

Transcendental Formulas For The Coefficients Of Ramanujan's Mock Theta Functions, Gradin Anderson

Theses and Dissertations

Ramanujan's 1920 last letter to Hardy contains seventeen examples of mock theta functions, including the famous third order function f(q), which resemble modular forms of weight 1/2. This list has since been expanded by individuals such as Gordon and McIntosh and the McKay--Thompson series arising in moonshine theory. In 1964, Andrews---improving on a result of Dragonette---gave an asymptotic formula for the coefficients of f(q) and conjectured an exact formula: a conditionally convergent series that closely resembles the Hardy--Ramanujan--Rademacher formula for the partition function. A key breakthrough came in 2001, when Zwegers wrote f(q) as the holomorphic component of a vector-valued …


Rotor Interaction Aerodynamics: Influence Of Phase And Spacing On Wake And Pressure Behavior, Nathan D. Welker Aug 2025

Rotor Interaction Aerodynamics: Influence Of Phase And Spacing On Wake And Pressure Behavior, Nathan D. Welker

Theses and Dissertations

This dissertation explores the aerodynamic behavior and interactions in the flow-fields of dual rotor systems. The experiments used Particle Image Velocimetry (PIV) combined with pressure and force measurements to characterize the flow with an emphasis on side-by-side rotor flows at small separation distances. This work is separated into six main chapters: first, the topic is introduced with a thorough literature review in Chapter 1, the methodology and details of the experiments are discussed in detail in Chapter 2; the effects of phase offset on dual-rotor rotor flows is explored in Chapter 3; the influence of separation distance on the side-by-side …


How Much Has The Recognition Of Women Artists’ Contributions To Art History Changed In The Past Half Century And Why?, Roger Clark Aug 2025

How Much Has The Recognition Of Women Artists’ Contributions To Art History Changed In The Past Half Century And Why?, Roger Clark

Sociology Between the Gaps: Forgotten and Neglected Topics

No abstract provided.


Novel Nanomaterials For Developing Bone Scaffolds And Tissue Regeneration, Nazim Uddin Emon, Lu Zhang, Shelby Dawn Osborne, Mark Allen Lanoue, Yan Huang, Z. Ryan Tian Aug 2025

Novel Nanomaterials For Developing Bone Scaffolds And Tissue Regeneration, Nazim Uddin Emon, Lu Zhang, Shelby Dawn Osborne, Mark Allen Lanoue, Yan Huang, Z. Ryan Tian

Cell and Molecular Biology Faculty Publications and Presentations

Nanotechnologies bring a rapid paradigm shift in hard and soft bone tissue regeneration (BTR) through unprecedented control over the nanoscale structures and chemistry of biocompatible materials to regenerate the intricate architecture and functional adaptability of bone. This review focuses on the transformative analyses and prospects of current and next-generation nanomaterials in designing bioactive bone scaffolds, emphasizing hierarchical architecture, mechanical resilience, and regenerative precision. Mainly, this review elucidated the innovative findings, new capabilities, unmet challenges, and possible future opportunities associated with biocompatible inorganic ceramics (e.g., phosphates, metallic oxides) and the United States Food and Drug Administration (USFDA) approved synthetic polymers, including …


Dopaminergic Neurons In The Zebrafish Subpallium Belong To The Extended Medial Amygdala, Daniel Armbruster, Thomas Mueller, Wolfgang Driever Aug 2025

Dopaminergic Neurons In The Zebrafish Subpallium Belong To The Extended Medial Amygdala, Daniel Armbruster, Thomas Mueller, Wolfgang Driever

Department of Biology Faculty Scholarship and Creative Works

The amygdala is a heterogeneous, multinuclear telencephalic structure critical for motivated and emotion-related behaviors in vertebrates. In ray-finned fish (Actinopterygii) like the teleost zebrafish, a telencephalic outward-growing process called eversion makes defining amygdaloid territories particularly challenging. Teleosts are also peculiar in that they develop numerous dopaminergic (DA) neurons in the subpallium, while in tetrapods, such populations are less prominent or appear only transiently. To shed light on the organization of the amygdala in teleosts, we pursued an evolutionary developmental approach focusing on the topological origin of subpallial DA neurons. Specifically, we analyzed the distribution of tyrosine hydroxylase (Th) in conjunction …


Flexible Monolithic All Polycrystalline Silicon Carbide Neural Interface Device And Method Of Manufacture, Stephen Edward Saddow, Francesco La Via, Christopher Leroy Frewin Aug 2025

Flexible Monolithic All Polycrystalline Silicon Carbide Neural Interface Device And Method Of Manufacture, Stephen Edward Saddow, Francesco La Via, Christopher Leroy Frewin

USF Patents

An implantable, conformal, neural interface device fabricated completely from neuro-compatible SiC and method of manufacture thereof, includes at least one elongated probe to be placed in a brain of a subject of interest, the at least one elongated probe comprising a plurality of electrodes positioned on a surface of the elongated probe, each of the plurality of electrodes comprising a conductive mesa consisting of polycrystalline silicon carbide (SiC), an insulative layer consisting of amorphous SiC, the insulative layer positioned to surround the conductive mesa absent a window through the amorphous SiC exposing a surface of the conductive mesa. The elongated …


Staff Education To Improve Staff Knowledge On Preeclampsia, Doris Wanmban Fombo Aug 2025

Staff Education To Improve Staff Knowledge On Preeclampsia, Doris Wanmban Fombo

Walden Dissertations and Doctoral Studies

Preeclampsia is a disorder that usually develops after 20 weeks of pregnancy and can lead to serious adverse outcomes or death for the mother and fetus if not promptly diagnosed and managed. Hence, a staff education project was designed and implemented to enhance staff knowledge of preeclampsia. The practice problem was limited staff knowledge of preeclampsia a pregnancy complication that can affect both the mother and fetus. The practice-focused question explored whether a staff education project on preeclampsia affected office staff knowledge. The purpose of the project was to develop and implement a staff education program to improve staff knowledge …


Rare Variants In Bmal1 Are Associated With A Neurodevelopmental Syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U. Rehman, Carol J. Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W. Scherer, Ingo Helbig, Amita Sehgal Aug 2025

Rare Variants In Bmal1 Are Associated With A Neurodevelopmental Syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U. Rehman, Carol J. Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W. Scherer, Ingo Helbig, Amita Sehgal

Manuscripts, Articles, Book Chapters and Other Papers

Through international gene-matching efforts, we identified 10 individuals with ultrarare heterozygous variants, including 5 de novo variants, in BMAL1, a core component of the molecular clock. Instead of an isolated circadian phenotype seen with disease-causing variants in other molecular clock genes, all individuals carrying BMAL1 variants surprisingly share a clinical syndrome manifest as developmental delay and autism spectrum disorder, with variably penetrant sleep disturbances, seizures, and marfanoid habitus. Variants were functionally tested in cultured cells using a Per2-promoter driven luciferase reporter and revealed both loss-of-function and gain-of-function changes in circadian rhythms. The tested BMAL1 variants disrupted PER2 mRNA …


Comparison Of 10 Mv Flattening Filter And Flattening Filter-Free Volumetric Modulated Art Therapy (Vmat) Radiation Plans In Partial Breast Irradiation: Evaluating Dose Sparing To The Left Anterior Descending Coronary Artery, Jillian Beliew Aug 2025

Comparison Of 10 Mv Flattening Filter And Flattening Filter-Free Volumetric Modulated Art Therapy (Vmat) Radiation Plans In Partial Breast Irradiation: Evaluating Dose Sparing To The Left Anterior Descending Coronary Artery, Jillian Beliew

Masters Projects

Importance Minimizing radiation dose to the heart, particularly the left anterior descending coronary artery (LAD), is essential in left-sided partial breast irradiation (PBI). Flattening filter-free (FFF) beam configurations may improve organ-at-risk (OAR) sparing and treatment efficiency.

Objective To compare dosimetric outcomes between 10 MV flattening filter (FF) and 10 MV flattening filter-free (FFF) VMAT plans in patients receiving accelerated partial breast irradiation (APBI), focusing on LAD dose sparing.

Design, Setting, and Participants This retrospective dosimetric study included 10 patients with early-stage, left-sided breast cancer. Each patient had two VMAT plans generated using identical geometry and constraints in Eclipse v16.01: one …


Acquisitions Unit Annual Report 2024-2025, Andrée J. Rathemacher Aug 2025

Acquisitions Unit Annual Report 2024-2025, Andrée J. Rathemacher

Technical Services Reports and Statistics

Annual Report of the Acquisitions Unit, University Libraries, University of Rhode Island for FY2025. Covers personnel, work flow, special projects, and serial, monograph, and e-resource acquisitions. Supplemental files include data on library materials expenditures by a number of variables as well as important working documents from the year.


Recreation Effects On Soil Carbon, Biocrust Presence, Soil Stability, And Invasive Species In Indian Creek, Bears Ears National Monument, Elisabeth M. Currit Aug 2025

Recreation Effects On Soil Carbon, Biocrust Presence, Soil Stability, And Invasive Species In Indian Creek, Bears Ears National Monument, Elisabeth M. Currit

Theses and Dissertations

Desert ecosystems perform essential ecosystem services, including playing a crucial role in the global carbon cycle. Because of this, it is important to understand how recreational activities, common in desert environments, impacts dryland ecosystems' ability to perform ecosystem services. The growing popularity of outdoor recreation in Western US poses a threat to desert ecosystems, and unregulated activities can harm soil health, particularly the presence and functioning of biological soil crusts (biocrusts). This study uses the Indian Creek Special Recreation Management area in Bears Ears National Monument, Utah, USA, as a case study for recreation impacted desert ecosystems. It examines the …


Consequences Of The Double Empathy Problem Within The Clinical Environment: A New Model For Neuroinclusive Care, Sofia Jimenez Aug 2025

Consequences Of The Double Empathy Problem Within The Clinical Environment: A New Model For Neuroinclusive Care, Sofia Jimenez

Theses and Dissertations

As diagnoses of autism spectrum disorder (ASD) rise, the neurodiversity and autistic self-advocacy movements have challenged traditional deficit-based clinical models and called for more inclusive, affirming approaches to care. Recent research disputes the long-held belief that autistic individuals have deficits in perspective-taking, revealing that miscommunication between autistic and neurotypical individuals results from mutual misunderstanding, a concept known as the double empathy problem (DEP; Milton, 2012), with the triple empathy problem (TEP) extending this framework to healthcare settings. Our study investigates the consequences of the DEP and TEP within clinical environments, focusing on interactions between neurotypical speech-language pathologists (SLPs) and adult …


Coding For Nonstandard Channels: A Capacity-Oriented Approach, J Daniel Harman Aug 2025

Coding For Nonstandard Channels: A Capacity-Oriented Approach, J Daniel Harman

Theses and Dissertations

This work addresses the issue of coding for non-standard channel models with an emphasis on capacity-oriented channel analysis and system design. The first channel studied is the Wyner wiretap channel. Channel sounding results were obtained to calculate the capacity for the multi-antenna case of the Wyner wiretap channel to ascertain the potential for secure communication via secrecy coding. The second channel studied is an asymmetric binary crossover erasure channel (ABCEC) with a short-blocklength constraint. The capacity for this channel was derived, and linear codes were chosen and tested. Another study was conducted on the ABCEC within a degraded wiretap channel …


Exploring Soil-Derived Antimicrobials For Inhibiting Dairy-Associated Pathogens And Spoilage Bacteria, Michael Joseph Moran Aug 2025

Exploring Soil-Derived Antimicrobials For Inhibiting Dairy-Associated Pathogens And Spoilage Bacteria, Michael Joseph Moran

Theses and Dissertations

Spore-forming bacteria are among the most problematic contaminants in fluid milk. They can survive pasteurization, grow at refrigeration temperatures, and secrete heat-stable enzymes, making them a major cause of spoilage in both pasteurized and reconstituted milk products. Current nonthermal strategies for reducing spore counts, including microfiltration and bactofugation, are often costly and inconsistent. The increasing consumer demand for natural additives in food products has sparked interest in the use of bacterially-derived antimicrobial compounds, particularly those from generally recognized as safe (GRAS) organisms, as an alternative method of dairy preservation. This study explores the antimicrobial potential of ten soil-derived Bacillus and …


“I Laughed Along For Years But Hated It Inside:” Understanding Nuance In Peer Teasing Experiences Using A Thematic Analysis, Naomi C.Z. Andrews, Molly Dawes Ph.D. Aug 2025

“I Laughed Along For Years But Hated It Inside:” Understanding Nuance In Peer Teasing Experiences Using A Thematic Analysis, Naomi C.Z. Andrews, Molly Dawes Ph.D.

Faculty Publications

Introduction

Peer teasing is ubiquitous, yet ambiguous in nature. Despite recent attempts to delineate and clarify differences in teasing experienced as playful versus harmful, there remains overlap and complexity in these interactions. In the current study, we present a conceptual model of teasing, which includes many nested features that dynamically interact within a teasing episode. Using this conceptual model to guide our work, the goal of the current study was to use qualitative inquiry to bring further conceptual clarity to the overlap between teasing that is experienced as playful versus harmful.

Method

Using semi-structured interviews, we asked university students ( …


Assembly Of Non-Close-Packed Poly(N-Isopropylacrylamide) Microgels On Metal Halide Perovskite Films, Amal Alruwaili, Osama M. Alkhudhari, Ran Wang, Zhenyu Jia, Jennifer M. Saunders, Eugenio Picheo, Daniel T.W. Toolan, L. Andrew Lyon, Brian R. Saunders Aug 2025

Assembly Of Non-Close-Packed Poly(N-Isopropylacrylamide) Microgels On Metal Halide Perovskite Films, Amal Alruwaili, Osama M. Alkhudhari, Ran Wang, Zhenyu Jia, Jennifer M. Saunders, Eugenio Picheo, Daniel T.W. Toolan, L. Andrew Lyon, Brian R. Saunders

Engineering Faculty Articles and Research

Hypothesis

Poly(N-isopropylacryamide) microgels (PNIPAM MGs) are interesting model colloids with remarkable self-ordering properties. Metal halide perovskites (MHPs) are solution processable semiconductors that have attracted great interest for optoelectronics applications. Very few studies have considered complex co-crystallizing systems and their effects on structural order formation. This work examines PNIPAM MG ordering within a MHP matrix and investigates whether these pure PNIPAM MGs could form arrays on the MHP surface, passivate MHP defects and provide structurally colored films and solar cells.

Experiments

We use a mixed cation MHP (FA0.88MA0.12PbI3) (FA and MA are formamidinium and methylammonium) and investigate the effects …


Coming Out And Social Acceptance: Understanding Lgbtq Veterans' Minority Stressors, Conrado Augustine Martin Aug 2025

Coming Out And Social Acceptance: Understanding Lgbtq Veterans' Minority Stressors, Conrado Augustine Martin

Walden Dissertations and Doctoral Studies

This quantitative study explored the experiences of LGBTQ veterans residing in Ohio, examining the relationship between the coming out process, social acceptance, and minority stress. Lesbian, gay, bisexual, trans, and queer (LGBTQ) military veterans face higher rates of minority stressors, resulting in higher rates of suicidal ideation and mental health issues, which impact healthcare practices that affirm their identity. Discrimination, microaggressions, coming out, identity disclosure, and social belonging were identified as key contributing factors. Guided by Meyer’s minority stress theory, the study aimed to assess whether levels of outness, and identification with the LGBTQ community correlated with experiences of minority …


Perspectives On Career Advising At A Large Private Religious Institution, Lane Toshio Muranaka Aug 2025

Perspectives On Career Advising At A Large Private Religious Institution, Lane Toshio Muranaka

Theses and Dissertations

This study examines the role of career advising at Brigham Young University (BYU), a faith-based institution where professional guidance focuses on spiritual development and purpose-driven learning. Through qualitative interviews with career advisors across various disciplines, the research explores how advisors define student success, integrate faith into their advising practices, and support students in aligning their career aspirations with personal meaning and the university's religious mission. Grounded in the belief that holistic education fosters lifelong success, BYU emphasizes the development of the "total person," including moral and spiritual dimensions. Findings reveal that student success is not solely measured by employment outcomes …


Metabolic Dysfunction-Associated Steatotic Liver Disease In People With Type 1 Diabetes., Brynlee Vermillion, Yuanjie Mao Aug 2025

Metabolic Dysfunction-Associated Steatotic Liver Disease In People With Type 1 Diabetes., Brynlee Vermillion, Yuanjie Mao

Ambulatory and Primary Care Articles

Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized as a significant comorbidity in individuals with type 1 diabetes (T1D), despite its historical association with type 2 diabetes. This review focuses on summarizing current findings regarding the role of insulin resistance in the development of MASLD in T1D, as well as examining the relationship between MASLD and diabetes-related complications. We will also briefly discuss the prevalence, diagnostic challenges, associated complications, and potential mechanisms underlying MASLD in T1D. Although insulin resistance is well established in MASLD among those with type 2 diabetes, its role in T1D requires further clarification. Emerging markers, …


The Benefits Of High Phosphate Concentration (10n : 1p) And Diagonal Orientation On The Ex Situ Grow-Out Of Caribbean Coral Juveniles, Ashley Shen Aug 2025

The Benefits Of High Phosphate Concentration (10n : 1p) And Diagonal Orientation On The Ex Situ Grow-Out Of Caribbean Coral Juveniles, Ashley Shen

All HCAS Student Capstones, Theses, and Dissertations

As coral reefs keep declining, it is imperative to increase coral production ex situ for restoration, but this requires culture protocols to be optimized. This study examined the impacts of grow-out orientation and phosphate concentration (and nitrate (N): phosphate (P) ratio) on the survival and growth of Montastraea cavernosa and Pseudodiploria clivosa juveniles from 3 to 9 months old. Pristine reefs typically have low nitrate (0.12μmol/L) and low phosphate (0.03μmol/L) concentrations, leading to N:P ratios of 4-16 N: 1P. In recirculating tanks, it is difficult to lower nitrate concentrations below 25μmol/L. Here we hypothesized that increasing the phosphate concentration in …


A Critical Seat At The Table: A Qualitative Examination Of Resiliency And Retention Among Black School Psychologists, Jasric Bland Aug 2025

A Critical Seat At The Table: A Qualitative Examination Of Resiliency And Retention Among Black School Psychologists, Jasric Bland

Electronic Theses and Dissertations Archive

As discussions on systemic racism, diversity, equity, and inclusion in education increase, advocacy for Black students is essential, as their voices are often undervalued (Anderson & Graham, 2015). School psychologists play a crucial role in decisions that affect students’ academic, social, and emotional well-being, yet the challenge of increasing Black representation in the field persists (Goforth et al., 2021; Grapin et al., 2016; Proctor et al., 2017), making advocacy and representation a challenge. This raises an important question about retaining Black practitioners within school psychology, however, research on the resiliency and retention of Black school psychologists remains limited. Further studies …


Gender And Sexuality In Homeschooling: An Analysis Of Gender Constructs And Sexual Behaviors Within Homeschooling Communities, Hannah Grace Badley Aug 2025

Gender And Sexuality In Homeschooling: An Analysis Of Gender Constructs And Sexual Behaviors Within Homeschooling Communities, Hannah Grace Badley

Electronic Theses and Dissertations Archive

Homeschooling has grown increasingly popular as a form of alternative education both in the United States and globally. However, research examining the public health implications of this homeschooling is minimal, especially research focusing on sexual behaviors and gender identity development. Similarly, research on homeschooling tends to focus on the caregivers' or parents' perceptions or motivations to homeschool, as opposed to centering the experiences and voices of those who are or were homeschooled. Because of this, very little is known about the ways homeschooled youth experience sexual health education, how gender identity development occurs, and how homeschoolers access reproductive healthcare. To …


Three Essays In Forward-Looking Statements, Social Media Collaboration, And Climate Talents, Jing-Chi Chen Aug 2025

Three Essays In Forward-Looking Statements, Social Media Collaboration, And Climate Talents, Jing-Chi Chen

Electronic Theses and Dissertations Archive

This dissertation consists of three essays on Forward-Looking Statements (FLS), Social Media Collaboration, and Climate Talents. The first essay examines how FLS impact investor trading behavior and market liquidity. We find that FLS are associated with reductions in investor trading costs, largely driven by lower market-maker inventory costs. FLS also associate with increased market depth on both sides of the bid-ask spread and greater retail and institutional trading activity, with retail investors being more responsive. Cross-sectional tests show these associations are stronger during market downturns and when earnings guidance is absent. Results are robust to instrumental variable regressions using managerial …


Extreme Value Theory View Of High Emitter Diesel Vehicles In The Us From 1991 To 2021, M. Matti Maricq, Gary A. Bishop Aug 2025

Extreme Value Theory View Of High Emitter Diesel Vehicles In The Us From 1991 To 2021, M. Matti Maricq, Gary A. Bishop

Fuel Efficiency Automobile Test Publications

Extreme value theory (EVT) is a statistical method to characterize the tails of distributions, such as high emitter vehicle emissions. The present work addresses the United States (US) diesel fleet. EVT confirms that high emitters contribute disproportionately to adverse air quality. It further reveals that high emitter emissions have responded differently to progressively tighter emissions standards compared to fleet averages. Carbon monoxide (CO) and hydrocarbons (HC) high emitter emissions fell in concert with the fleet average after widespread implementation of the diesel oxidation catalyst to meet US Environmental Protection Agency (EPA) Tier 1 emissions standards, but remained unchanged after introduction …


Rare Variants In Bmal1 Are Associated With A Neurodevelopmental Syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U Rehman, Carol Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W Scherer, Ingo Helbig, Amita Sehgal Aug 2025

Rare Variants In Bmal1 Are Associated With A Neurodevelopmental Syndrome, Vishnu Anand Cuddapah, Dechun Chen, Bumsik Cho, Rebecca Moore, Mohnish Suri, Hana Safraou, Frederic Tran-Mau-Them, Ashley Wilson, Jacqueline Odgis, Atteeq U Rehman, Carol Saunders, Shiva Ganesan, Vaidehi Jobanputra, Stephen W Scherer, Ingo Helbig, Amita Sehgal

Duncan NRI Faculty and Staff Publications

Children with neurodevelopmental disorders exhibit highly penetrant sleep and circadian dysfunction, but the underlying mechanisms are unclear. We asked whether a subset of individuals with neurodevelopmental disorders might have genetic variants in genes known to drive circadian rhythms. Through international collaboration, we identified ten individuals with very rare genetic variants in BMAL1, a core component of the molecular clock. These individuals exhibited overlapping signs and symptoms including developmental delay, autism spectrum disorder, and variably penetrant marfanoid features. We functionally tested the identified BMAL1 variants in cell culture and in vivo and found disrupted BMAL1 function. These findings demonstrate that …