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2026

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Articles 51991 - 52011 of 52011

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Enhancing Explainable Ai For Medical Imaging: Improved Lime Interpretation With Influence Mapping, Abiha Tahsin Chowdhury, Dhanush Bavisetti, Daniel B. Hier, Rahul Dubey, Tayo Obafemi-Ajayi Jan 2026

Enhancing Explainable Ai For Medical Imaging: Improved Lime Interpretation With Influence Mapping, Abiha Tahsin Chowdhury, Dhanush Bavisetti, Daniel B. Hier, Rahul Dubey, Tayo Obafemi-Ajayi

Electrical and Computer Engineering Faculty Research & Creative Works

The integration of artificial intelligence (AI) into medical imaging is progressing rapidly. It is essential for these AI tools to be transparent, interpretable, and explainable to gain the trust of clinicians and regulators. Current state-of-the-art explainable AI (XAI) techniques in imaging includes Local Interpretable Model-Agnostic Explanations (LIME), Shapley Additive Explanations (SHAP), and Gradient-weighted Class Activation Mapping (Grad-CAM). Recent studies have shown that LIME often suffers from inconsistency and unreliability which limits their utility in sensitive fields like medical imaging. This paper proposes Influence Map based Explanation (IME), an enhanced variant of the original LIME framework, that aggregates multiple runs to …


Event-Based Predefined-Time Synchronization For Complex Networks With Deception Attacks: An Asynchronously Intermittent Strategy, Lei Xue, Jiong Yu, Haoyu Zhou, Yongbao Wu, Jian Liu, Donald C. Wunsch Jan 2026

Event-Based Predefined-Time Synchronization For Complex Networks With Deception Attacks: An Asynchronously Intermittent Strategy, Lei Xue, Jiong Yu, Haoyu Zhou, Yongbao Wu, Jian Liu, Donald C. Wunsch

Electrical and Computer Engineering Faculty Research & Creative Works

This article studies the practical predefined-time synchronization (PPTS) for complex networks (CNs) under deception attacks based on the asynchronously intermittent event-triggered control (AIE-TC). Notably, AIE-TC effectively integrates the advantages of asynchronously intermittent control (AIC) and event-triggered control, where AIC provides each subsystem node with independent control and rest intervals. Besides, all synchronization errors of the CNs converge to an adjustable neighborhood within the predefined time by designing a bounded time-varying function into the controller. Moreover, this article considers that the transmission network is subjected to stochastic deception attacks modeled by a Markov process, which captures the state-driven dynamic transition characteristics …


Effect Of Sample Properties On Short-Circuited Waveguide Measurements For Materials Characterization, Alexander Hook, Jared Sinkey, Kristen M. Donnell Jan 2026

Effect Of Sample Properties On Short-Circuited Waveguide Measurements For Materials Characterization, Alexander Hook, Jared Sinkey, Kristen M. Donnell

Electrical and Computer Engineering Faculty Research & Creative Works

Microwave materials characterization measurements can be performed using a number of well-established approaches. One such approach, the filled transmission line approach featuring a short-circuited rectangular waveguide (SC-RWG) sample holder, is known to have sample placement restrictions related to measurement viability. This work focuses on this approach and addresses the measurement restrictions within the context of sample length and dielectric properties. The complex reflection properties, S11, of a sample placed in a SC-RWG sample holder are studied to quantitively define when a sample must be offset from the SC-end. The impact of the sample holder is also studied from a measurement …


Femtosecond-Laser-Inscribed Cladding Fiber Bragg Gratings: Architectures, Design Trade-Offs And Future Sensing Opportunities, Koustav Dey, Rex E. Gerald, Chen Zhu, Jie Huang Jan 2026

Femtosecond-Laser-Inscribed Cladding Fiber Bragg Gratings: Architectures, Design Trade-Offs And Future Sensing Opportunities, Koustav Dey, Rex E. Gerald, Chen Zhu, Jie Huang

Electrical and Computer Engineering Faculty Research & Creative Works

Femtosecond (fs) laser inscription enables fiber Bragg gratings (FBGs) to be positioned beyond the fiber core, including within the cladding, thereby expanding control over modal interactions and directional sensing. These cladding fiber Bragg gratings (CLFBGs) extend FBG functionality through interactions with core, cladding, and evanescent fields. Their operation does not involve fundamentally different grating physics; rather, core-mode, cladding-mode, and coupled-mode responses depend on power distribution, modal overlap with the laser-inscribed refractive-index modulation (RIM), grating position, fiber geometry, modal excitation, and interrogation configuration. This Perspective reviews advances in CLFBG fabrication, optical characteristics, sensing mechanisms, and applications. Cladding-waveguide-assisted, evanescent-field-coupled, and direct cladding-mode-excitation …


[Introduction To] Shakers At The Center : Manifesting Spirits & Spectacles In Nineteenth-Century America, Douglas L. Winiarski Jan 2026

[Introduction To] Shakers At The Center : Manifesting Spirits & Spectacles In Nineteenth-Century America, Douglas L. Winiarski

Bookshelf

Edited by Douglas WIniarski.

"Exploring the theological, social, and cultural dimensions of one of America’s most ambitious prophetic movements

The Shakers’ Era of Manifestations ranks among the most astounding events in American religious history. During the 1840s, members of the United Society of Believers in Christ’s Second Appearing embarked on an audacious project of receiving visions, revelations, and other manifestations from the spirit world and convincing both themselves and the world’s people of their reality. Gifted Shakers known as “instruments” surrendered their bodies to possessing spirits and celestial beings who, in turn, provided the Believers with an unimaginable number of …


Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske Jan 2026

Anything But Endo: Diagnostic Buck-Passing In Endometriosis Diagnosis, Rita Dexter, Megan Kitts, Heather Welty, Melanie Jeske

Center for Medical Ethics and Health Policy Staff Publications

People living with endometriosis, a disease in which tissue similar to the lining of the uterus grows elsewhere in the body, often experience prolonged diagnostic journeys because of symptom variability, normalisation of period pain and other symptoms, and lack of awareness of the condition. In this article, we analyse the endometriosis diagnostic journey through the lens of epistemic injustice. Drawing on in-depth interviews with 52 people living with endometriosis in the United States, we introduce the concept of diagnostic buck-passing to characterise the phenomenon wherein individuals who seek treatment for their symptoms end up stuck in a cycle of seeing …


Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady Jan 2026

Differences Between Government, Consortium, And Private Database Stewards Impacting The Genomic Data Market: A Survey Of U.S. Academic Genetic Researchers., Amanda K Greene, J Denard Thomas, Kaitlyn Jaffe, Luyun Chen, Kerry A Ryan, Brian J Zikmund-Fisher, J Scott Roberts, Amy L Mcguire, Katherine Hendy, Kayte Spector-Bagdady

Center for Medical Ethics and Health Policy Staff Publications

Background: Despite major shifts in U.S. federal government data sharing requirements, their impact, and relation to researcher choice of database, are underexplored. This study surveyed genetic researchers regarding trends, priorities, perceptions of quality, impact on research outcomes, and genomic data sharing and use across government, consortium, and private databases.

Methods: As part of an exploratory sequential mixed methods project, we surveyed 294 U.S.-based genomic academic researchers.

Results: Genetic researchers generally have a choice between databases, which allows them to prioritize data quality. This might explain recent trends toward the use of government and consortium databases away from private ones. Respondents …


Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski Jan 2026

Can I Get A Witness? The Ethical Dimensions Of Family Presence In Patient Suffering, Jennifer Blumenthal-Barby, Trevor M Bibler, Holland Kaplan, Adam Omelianchuk, Joanna Smolenski

Center for Medical Ethics and Health Policy Staff Publications

For patients who are suffering, the bedside presence of a family member can provide comfort, and many people hold that there is moral value in being present with a conscious, suffering patient. Yet what is the moral significance of the absence of family members when a patient is minimally conscious or unconscious and not aware of their absence? Clinicians are often troubled when family members and surrogate decision-makers who are able to spend a significant amount of time at an unconscious, seriously ill patient's bedside do not do so. Clinicians feel frustrated that they must bear the burden of witnessing …


Clinicians’ Views On A Patient Decision Aid For Deep Brain Stimulation In Parkinson’S Disease, Hillary S King, Jennifer Blumenthal-Barby, Benjamin H Levi, Sol De Jesus, Harini Sarva, Laura Y Cabrera Jan 2026

Clinicians’ Views On A Patient Decision Aid For Deep Brain Stimulation In Parkinson’S Disease, Hillary S King, Jennifer Blumenthal-Barby, Benjamin H Levi, Sol De Jesus, Harini Sarva, Laura Y Cabrera

Center for Medical Ethics and Health Policy Staff Publications

Introduction: For people with Parkinson's disease (PD), deciding whether to pursue deep brain stimulation (DBS) has become increasingly complex. Evidence suggests current approaches to collaborative decision-making may fall short of accepted standards. Thus, a decision support intervention, such as a patient decision aid (PtDA) may be warranted. PtDAs have been shown to improve patients' knowledge, expectations, and participation in decision-making for other, similar healthcare decisions. We therefore sought to assess neurologists' awareness of, and experience using, PtDAs, and to solicit their opinions on the ideal features of a PtDA for PD patients considering DBS.

Methods: Sixteen United States-based neurology clinicians …


Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh Jan 2026

Toward Ethical Provenance Tracking: The Ga4gh Model Data Access Agreement (Daa), Alexander Bernier, Bartha Maria Knoppers, Jonathan Lawson, Robyn Mcdougall, Maili Raven-Adams, Vasiliki Rahimzadeh

Center for Medical Ethics and Health Policy Staff Publications

Purpose: Standardizing contractual clauses that govern data access enables research institutions to responsibly steward genomic and related health data while enabling its efficient downstream reuse.

Methods: We describe a document analysis study using both qualitative and comparative law analytical approaches to identify the most common categories of clauses from 29 different data access agreements used by human biomedical research consortia globally. We furthermore characterized the legal positions and standard practices for each common element of the agreement and synthesized across them to develop model clauses. A total of 3 discussion sessions were organized virtually to refine the clauses among members …


Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin Jan 2026

Imagining Genomics And Population Health In 2050: Anticipating Future Research, Policy, And Governance Needs, Bartha Maria Knoppers, Yann Joly, Ma Apos N H Zawati, Habiba Alsafar, Jeffrey C Barrett, Laura Blackburn, Brian Hon-Yin Chung, Martina C Cornel, Edward S Dove, David Glazer, Calvin Wai-Loon Ho, Muin J Khoury, Anna C F Lewis, Anneke Lucassen, Peter F R Mills, Colin Mitchell, Nicola Mulder, Ainsley J Newson, Anthony Ng, Paul D P Pharoah, Vasiliki Rahimzadeh, Megan C Roberts, Saskia C Sanderson, Jeffrey M Skopek, Ron Zimmern, Eric M Meslin

Center for Medical Ethics and Health Policy Staff Publications

No abstract provided.


Spatial Evolution In Temporal Dynamics Of Hemodynamic Response Function In Human Superior Colliculi With Ultra-High-Resolution Mri At 9.4t, Nooshin J Fesharaki, Artemy Vinogradov, David Ress, Jung Hwan Kim Jan 2026

Spatial Evolution In Temporal Dynamics Of Hemodynamic Response Function In Human Superior Colliculi With Ultra-High-Resolution Mri At 9.4t, Nooshin J Fesharaki, Artemy Vinogradov, David Ress, Jung Hwan Kim

Faculty, Staff and Student Publications

The superior colliculus (SC) plays a crucial role in multisensory integration, visual information processing, saccadic target selection, visual selective attention, and decision making. In particular, the SC has a key role in oculomotor coordination, following a rostro-caudal organization. The rostral SC, which corresponds to foveal representation, is linked to fixation, microsaccades, smooth pursuit, and vergence adjustments. In contrast, the caudal SC, representing more peripheral visual field, is associated with the large gaze shifts (saccades). However, evidence regarding whether this functional gradient is preserved in the human SC remains limited. In this study, we employed a sequence-following visual-motor task to specifically …


Limosilactobacillus Reuteri Alleviates Proinflammatory T-Cell-Mediated Liver Injury And Transcriptomic Changes In Immunocompromised Mice, Ana Fadhel Alvarez, Zheng Yin, Beanna Okeugo, Alexander Banerjee, Meng Luo, Christopher M Taylor, Salomea Giorgberidze, Vaishali Harne, Rambabu Majji, Melissa N Munroe, Ji Ho Suh, Stephen T C Wong, Kang Ho Kim, Hari Krishna Yalamanchili, Suhair Al Salihi, Jon Marc Rhoads, Yuying Liu Jan 2026

Limosilactobacillus Reuteri Alleviates Proinflammatory T-Cell-Mediated Liver Injury And Transcriptomic Changes In Immunocompromised Mice, Ana Fadhel Alvarez, Zheng Yin, Beanna Okeugo, Alexander Banerjee, Meng Luo, Christopher M Taylor, Salomea Giorgberidze, Vaishali Harne, Rambabu Majji, Melissa N Munroe, Ji Ho Suh, Stephen T C Wong, Kang Ho Kim, Hari Krishna Yalamanchili, Suhair Al Salihi, Jon Marc Rhoads, Yuying Liu

Children’s Nutrition Research Center Staff Publications

Background: A deficiency of immunosuppressive regulatory T cells, as seen in scurfy (SF) mice or in IPEX syndrome in humans, can lead to multiorgan inflammation. Oral administration of the probiotic Limosilactobacillus reuteri Deutsche Sammlung von Mikroorganismen und Zellkulturen GmbH (DSM) 17938 prolongs survival and reduces Th1- and Th2-associated inflammation in SF mice. It remains unclear how DSM 17938-educated SF-CD4+ T cells modulate T-cell-liver communication.

Methods: To characterize CD4+ T cells from SF mice orally administered DSM 17938 (Prob-SF-CD4+ T cells) and to compare them with CD4+ T cells from SF mice (SF-CD4+ T cells), cells isolated from SF spleens were …


Corticotropin-Releasing Factor Neurons In The Bed Nucleus Of The Stria Terminalis Modulate Avoidance Behaviors And Feeding, Juan Manuel Romero, Shae-Marie Stafford-Trujillo, Mitzy Mendoza, Pey-Shyuan Chin, Snigdha Srivastava, Mikhail Kochukov, Qingchun Tong, Benjamin Russell Arenkiel Jan 2026

Corticotropin-Releasing Factor Neurons In The Bed Nucleus Of The Stria Terminalis Modulate Avoidance Behaviors And Feeding, Juan Manuel Romero, Shae-Marie Stafford-Trujillo, Mitzy Mendoza, Pey-Shyuan Chin, Snigdha Srivastava, Mikhail Kochukov, Qingchun Tong, Benjamin Russell Arenkiel

The Brown Foundation: Institute of Molecular Medicine

Introduction: Animals rely on defensive avoidance of exposed or potentially threatening environments as a fundamental survival strategy, often expressing this behavior as thigmotaxis, or a preference for the periphery of an open space. However, researchers still do not understand how neural circuits coordinate avoidance behavior with competing physiological drives such as feeding. In this study, we investigate how corticotropin-releasing factor (CRF)-expressing neurons in the bed nucleus of the stria terminalis (BNST) integrate environmental avoidance and feeding behavior.

Methods: We used adult male and female mice and applied fiber photometry to monitor BNST CRF neuronal activity in vivo. We performed both …


Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe Jan 2026

Cerebellar Motor And Non-Motor Contributions To Dystonia Pathophysiology And Treatment, Linda H Kim, Cheryl Brandenburg, Roy V Sillitoe

Duncan NRI Faculty and Staff Publications

Dystonia is a complex neurological disorder characterized by sustained or intermittent abnormal movements and/or postures. However, dystonia's non-motor symptoms, particularly the sleep disturbances, are critical yet underexplored concerns that affect all ages. Here, we synthesize current knowledge on the motor and non-motor domains of dystonia, emphasizing the functional interconnections and plasticity within cerebellar motor, cognitive, and sleep-associated circuits to motivate more comprehensive and effective treatments that improve overall quality of life.


Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou Jan 2026

Refining Aicardi Syndrome Diagnostic Criteria: An Expert-Based Consensus Using A Modified Delphi Approach, Silvia Masnada, Valentina De Giorgis, Umberto Carugo, Nadia Bahi-Buisson, Mara Cavallin, Mark Corbett, Manuela Formica, Jozef Gecz, Natalia Petros, Emilio Perucca, Anna Pichiecchio, Paolo Fusar Poli, Elliott H Sherr, Ignatia B Van Den Veyver, Federico Zara, Martin Geroldinger, Pierangelo Veggiotti, Alexis Arzimanoglou

Duncan NRI Faculty and Staff Publications

Background and objectives: Aicardi syndrome (AIC) is a rare neurodevelopmental disorder historically characterised by the presence of chorioretinal lacunae, corpus callosum agenesis, infantile spasms and several supporting features that aid in diagnosis. However, the unclear aetiology and evolving diagnostic tools have led to ongoing reconsideration of the criteria, based on individual approaches. Our study aimed to establish, for the first time, an expert-based consensus on diagnostic criteria for AIC by integrating both existing and novel ones.

Methods: A geographically diverse and multidisciplinary group of expert physicians was invited to participate in a modified Delphi study, to achieve consensus on major, …


El Paso Business Cycle Downturn Analysis: 1991 – 2025, Steven L. Fullerton, Thomas M. Fullerton Jr. Jan 2026

El Paso Business Cycle Downturn Analysis: 1991 – 2025, Steven L. Fullerton, Thomas M. Fullerton Jr.

Border Region Modeling Project

Recession indicator research for the United States and other national economies has accelerated since 2019. Because of relative ease of implementation, these indices show much promise and expand the business cycle toolkit for applied economists, policy analysts, and business planners. From a regional perspective, a potentially attractive feature of these indices is fairly minimal data requirements. This study extends this branch of the business cycle literature into the realm of regional economics. An application of the framework is developed for El Paso, Texas, USA. That metropolitan economy is a natural candidate for this type of exploratory analysis because of the …


Large Aerosol Particles Favor Haze Conditions Through Limitations On Water Budget And Activation Kinetics, Hamed F. Sadi, Ernie Lewis, Kadja Flore Gali, Fan Yang, Jesse Anderson, Suryadev Pratap Singh, Jae Min Yeom, Will Cantrell, Raymond Shaw Jan 2026

Large Aerosol Particles Favor Haze Conditions Through Limitations On Water Budget And Activation Kinetics, Hamed F. Sadi, Ernie Lewis, Kadja Flore Gali, Fan Yang, Jesse Anderson, Suryadev Pratap Singh, Jae Min Yeom, Will Cantrell, Raymond Shaw

Michigan Tech Publications

Experiments in the Pi Convection‐Cloud Chamber conducted by systematically changing the diameter of injected dry aerosol particles while holding the temperature difference constant demonstrate that dry diameter strongly influences the onset of haze‐dominated conditions. Two factors contribute: the system becomes water‐limited, resulting in reduction of supersaturation by growing aerosol particles to the activation diameter; and the activation process becomes kinetically limited. Dry aerosol diameter exerts a strong influence on activation time, with a power‐law exponent of 9/2. Kinetically limited activation occurs when the ratio of the activation and droplet residence times is greater than unity. The findings demonstrate that a …


Equity And Justice In Water Pricing And The Effects On Water Distribution System Management, Brian Barkdoll Jan 2026

Equity And Justice In Water Pricing And The Effects On Water Distribution System Management, Brian Barkdoll

Michigan Tech Publications

Equity regarding access to potable water is paramount. Municipal Water Distribution Systems supply potable water to users and are essential to public health. To find the optimal price of water to maximize utility revenue and allow changes to the system components for capital and maintenance expenditures, network modeling was performed for 15 real MDWSs. A new power-law price-usage elasticity curve, entitled the Power Law Elasticity Function (PLEF), was used that allowed for various users, both high- and low-income, and a non-discretionary level of usage. It was found that: (1) the maximum profit was obtained when the price was approximately 0.8 …


Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini Jan 2026

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …


Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz Jan 2026

Highly Variable Expressivity Of A Cnv Deletion Involving Tbx4 In Three Deceased Siblings With Lung Developmental Disorder And Their Mildly Affected Mother And Grandfather, Przemyslaw Szafranski, Tomasz Gambin, Michal Kadlof, Michał Denkiewicz, Dariusz Plewczynski, Hyun Jeong Kim, Gail Deutsch, Nahir Cortes-Santiago, Salmo Raskin, Paweł Stankiewicz

Faculty, Staff and Students Publications

Single nucleotide variants (SNVs) and copy-number variant (CNV) deletions involving TBX4 have been associated with pulmonary arterial hypertension, ischiocoxopodopatellar syndrome, and lethal lung developmental disorders (LLDDs). Thus far, all large CNV deletions encompassing entire TBX4 have been found to have arisen de novo. Here, we present a three-generation family with three neonate siblings who died within 35-66 days due to histopathologically diagnosed LLDD. Whole-genome sequencing identified an ~108-kb CNV deletion encompassing TBX4 in all three infants. The deletion was also found in their mother with a history of pneumonia and persistent thick upper airway secretions and in the maternal grandfather …