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2026

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Full-Text Articles in Neurology

Adjunctive Middle Meningeal Artery Embolization After Surgical Evacuation Of Chronic Subdural Hematoma: An Updated Meta-Analysis Of Randomized Controlled Trials, Tallal M. Hashmi, Hafsa Arshad Azam Raja, Zain Tariq, Faizan Ahmed, Niraj Arora, Majid T. Aized, Adeel Saleemi, Ameer E. Hassan, Adnan Qureshi, Osama O. Zaidat Oct 2026

Adjunctive Middle Meningeal Artery Embolization After Surgical Evacuation Of Chronic Subdural Hematoma: An Updated Meta-Analysis Of Randomized Controlled Trials, Tallal M. Hashmi, Hafsa Arshad Azam Raja, Zain Tariq, Faizan Ahmed, Niraj Arora, Majid T. Aized, Adeel Saleemi, Ameer E. Hassan, Adnan Qureshi, Osama O. Zaidat

School of Medicine Publications

Background: Middle meningeal artery embolization (MMAE) has emerged as a promising adjunctive treatment for chronic subdural hematoma (cSDH); however, the efficacy and safety of adjunctive MMAE compared with surgery alone remains uncertain.

Methods: We systematically searched PubMed, Embase, and the Cochrane Central Register of Controlled Trials from inception through June 2026. Randomized controlled trials comparing adjunctive MMAE plus surgical evacuation with surgical evacuation alone in patients with cSDH were included. The primary outcome was hematoma recurrence. Pooled odds ratios (ORs) with 95% CIs were calculated using a random-effects model.

Results: A total of eight randomized controlled trials were included. The …


Arriving At A Diagnosis: Effective Strategies Used By The Undiagnosed Diseases Network, Somin Hwang, Rachel M Brown, Dustin Baldridge, Erin E Baldwin, Alan H Beggs, Jonathan A Bernstein, Elizabeth Blue, Nicholas A Borja, Lorenzo D Botto, Lauren C Briere, Thomas Cassini, Cecilia Esteves, Elizabeth L Fieg, Gail P Jarvik, Shilpa Nadimpalli Kobren, Mia P Levanto, Julian A Martínez-Agosto, Shruti Marwaha, Stanley F Nelson, Jill A Rosenfeld, Tim Schedl, Tina K Truong, Jennifer A Wambach, Matthew T Wheeler, Shinya Yamamoto, Undiagnosed Diseases Network, Vandana Shashi, Alexa T Mccray, David R Adams, Kimberly Leblanc Sep 2026

Arriving At A Diagnosis: Effective Strategies Used By The Undiagnosed Diseases Network, Somin Hwang, Rachel M Brown, Dustin Baldridge, Erin E Baldwin, Alan H Beggs, Jonathan A Bernstein, Elizabeth Blue, Nicholas A Borja, Lorenzo D Botto, Lauren C Briere, Thomas Cassini, Cecilia Esteves, Elizabeth L Fieg, Gail P Jarvik, Shilpa Nadimpalli Kobren, Mia P Levanto, Julian A Martínez-Agosto, Shruti Marwaha, Stanley F Nelson, Jill A Rosenfeld, Tim Schedl, Tina K Truong, Jennifer A Wambach, Matthew T Wheeler, Shinya Yamamoto, Undiagnosed Diseases Network, Vandana Shashi, Alexa T Mccray, David R Adams, Kimberly Leblanc

Duncan NRI Faculty and Staff Publications

Purpose: Despite the increasing use of exome sequencing (ES) and genome sequencing (GS) in clinical settings, many individuals remain undiagnosed. This study examined the Undiagnosed Diseases Network (UDN)'s approach to establishing diagnoses for participants.

Methods: As a continuation of the first UDN cohort (9/16/2015-5/23/2017), this study reviewed diagnostic strategies and outcomes in the second UDN cohort (5/24/2017-6/30/2023).

Results: Over the study period, the proportion of UDN participants with prior ES/GS increased from 40.2% to 75.0%. The diagnostic rate for the UDN was 22.1% (379/1,713). Reanalysis/reinterpretation of sequencing data (prior ES: 21.4%, prior GS: 2.6%, UDN ES: 4.8%, UDN GS: 17.3%) …


Intravascular Immune Cell Labeling As A Critical Methodological Tool For Characterizing Cd4+ T Cells In The Lung In Eae, Gholamreza Azizi, Mohamad Rostami Sep 2026

Intravascular Immune Cell Labeling As A Critical Methodological Tool For Characterizing Cd4+ T Cells In The Lung In Eae, Gholamreza Azizi, Mohamad Rostami

Department of Neurology Faculty Papers

INTRODUCTION: Growing evidence highlights the lung -brain axis as a key contributor to CNS autoimmunity. However, accurate characterization of lung immune cells remains technically challenging because standard transcardial perfusion does not eliminate the lung's extensive marginated intravascular leukocyte pool, allowing circulating cells to contaminate analyses of the lung parenchyma.

METHODS: Experimental autoimmune encephalomyelitis (EAE) was induced in mice by immunization with MOG35-55 peptide in complete Freund's adjuvant, followed by pertussis toxin administration. Lung mononuclear cells were isolated after intravascular (IV) CD45 labeling, transcardial perfusion, and enzymatic digestion. Immune cell populations and intracellular cytokine production were analyzed by multicolor flow cytometry …


Neuroimmune Phenotyping As The Next Frontier In Chronic Pain Medicine For Musculoskeletal Back Pain, Samer G. Salman, Rohan A. Phadke, Adithya Nair, Rahul Kumar, Arbaz Momin, Alireza Tavakkoli, James Rizkalla Sep 2026

Neuroimmune Phenotyping As The Next Frontier In Chronic Pain Medicine For Musculoskeletal Back Pain, Samer G. Salman, Rohan A. Phadke, Adithya Nair, Rahul Kumar, Arbaz Momin, Alireza Tavakkoli, James Rizkalla

Department of Neurosurgery Posters

Background: Chronic low back pain encompasses heterogeneous mechanical, neuropathic, nociplastic, and myofascial presentations that may reflect distinct neuroimmune mechanisms. We synthesized evidence linking these phenotypes to measurable biological features and clinically relevant treatment strategies.

Methods: We conducted a structured literature search of MEDLINE, Scopus, Web of Science, and the Cochrane Central Register of Controlled Trials for studies published from January 2005 through January 2025. Systematic reviews, randomized controlled trials, and mechanistic studies addressing neuroinflammation, glial activation, central sensitization, biomarkers, or imaging were organized according to four clinically relevant pain phenotypes and translational readiness.

Results: Neuroimmune findings differed across axial mechanical, …


Artificial Intelligence Models For Automated And Semiautomated Analysis And Interpretation Of Clinical Electroencephalography, Sándor Beniczky, Birgit Frauscher, Fábio Nascimento, Shobi Sivathamboo, Catalina Rojas, Michael Sperling, Samden Lhatoo, Philippe Ryvlin, Levin Kuhlmann Sep 2026

Artificial Intelligence Models For Automated And Semiautomated Analysis And Interpretation Of Clinical Electroencephalography, Sándor Beniczky, Birgit Frauscher, Fábio Nascimento, Shobi Sivathamboo, Catalina Rojas, Michael Sperling, Samden Lhatoo, Philippe Ryvlin, Levin Kuhlmann

Department of Neurology Faculty Papers

Electroencephalography is the most commonly used diagnostic tool for epilepsy. However, interpreting electroencephalograms (EEGs) requires expertise that is not widely available. Advances in digital technology and wearables have enabled large-scale EEG recording, generating vast amounts of data that cannot be managed through traditional visual interpretation by experts. Artificial intelligence (AI) has the potential to augment human expertise and reduce workloads. The application of artificial neural networks in analysing clinical EEG recordings has led to major breakthroughs, bringing AI-based EEG interpretation closer to clinical implementation. In this Review, we summarise the most important research and development results in this field from …


Characteristics Of Individuals With Cerebral Palsy Across The Us., Bhooma R. Aravamuthan, Amy F. Bailes, Micah Baird, Kristie Bjornson, Ira Bowen, Angeline Bowman, Elizabeth R. Boyer, Rose N. Gelineau-Morel, Laurie Glader, Paul H. Gross, Stacey Hall, Edward A. Hurvitz, Michael Kruer, Thomas Larrew, Neena I. Marupudi, Patrick G. Mcphee, Stephen A. Nichols, Garey Noritz, Joyce Oleszek, Justin Ramsey, Jeffrey S. Raskin, Heather Riordan, Brandon G. Rocque, Manish N. Shah, Benjamin J. Shore, M Wade Shrader, David Spence, Charles B. Stevenson, Richard Stevenson, Sruthi P. Thomas, Joyce P. Trost, Stephen R. Wisniewski, Cerebral Palsy Research Network Sep 2026

Characteristics Of Individuals With Cerebral Palsy Across The Us., Bhooma R. Aravamuthan, Amy F. Bailes, Micah Baird, Kristie Bjornson, Ira Bowen, Angeline Bowman, Elizabeth R. Boyer, Rose N. Gelineau-Morel, Laurie Glader, Paul H. Gross, Stacey Hall, Edward A. Hurvitz, Michael Kruer, Thomas Larrew, Neena I. Marupudi, Patrick G. Mcphee, Stephen A. Nichols, Garey Noritz, Joyce Oleszek, Justin Ramsey, Jeffrey S. Raskin, Heather Riordan, Brandon G. Rocque, Manish N. Shah, Benjamin J. Shore, M Wade Shrader, David Spence, Charles B. Stevenson, Richard Stevenson, Sruthi P. Thomas, Joyce P. Trost, Stephen R. Wisniewski, Cerebral Palsy Research Network

Manuscripts, Articles, Book Chapters and Other Papers

This cross-sectional study examines how demographics and characteristics of individuals with cerebral palsy across the US associate with Gross Motor Function Classification System level and genetic etiology.


Predictors Of Complete Obliteration And Favourable Outcome After Single-Modality Treatment For Low-Grade Arteriovenous Malformations: A Multicentre Study, Angelica Fuentes, Salem Tos, Natasha Ironside, Georgios Mantziaris, Yuki Shinya, Basel Musmar, Hamza Adel Salim, Nimer Adeeb, Christopher Ogilvy, Douglas Kondziolka, Ali Alaraj, Min Park, Adam Dmytriw, Hussein Zeineddine, Finn Mccarthy, Hussam Abou-Al-Shaar, Ahmed Abdelsalam, Mustafa Baskaya, Cagdas Ataoglu, Anthony Sanchez-Forteza, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Howard Riina, Arwin Rezai, Sahin Hanalioglu, Ufuk Erginoglu, Johannes Pöppe, Davide Simonato, Yan-Lin Li, Sandeep Kandregula, Dhairya Lakhani, Christoph Griessenauer, Rahim Abo Kasem, Alejandro Spiotta, Ajit Puri, Jasmeet Singh, Anna Luisa Kuhn, Jan Karl Burkhardt, Robert Starke, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Paul Foreman, Osama Zaidat, Mohammad Almajali, Hakeem Shakir, Alfred Pokmeng See, Adib Abla, Aashay Patel, Andrew Nguyen, Matthew Koch, Visish Srinivasan, Peng Roc Chen, Spiros Blackburn, Ketan Bulsara, Peter Kan, Louis Kim, Omar Choudhri, Stavropoula Tjoumakaris, Pascal Jabbour, Amey Savardekar, Hugo Cuellar, Michael Lawton, Bharat Guthikonda, Jacques Morcos, Jason Sheehan Aug 2026

Predictors Of Complete Obliteration And Favourable Outcome After Single-Modality Treatment For Low-Grade Arteriovenous Malformations: A Multicentre Study, Angelica Fuentes, Salem Tos, Natasha Ironside, Georgios Mantziaris, Yuki Shinya, Basel Musmar, Hamza Adel Salim, Nimer Adeeb, Christopher Ogilvy, Douglas Kondziolka, Ali Alaraj, Min Park, Adam Dmytriw, Hussein Zeineddine, Finn Mccarthy, Hussam Abou-Al-Shaar, Ahmed Abdelsalam, Mustafa Baskaya, Cagdas Ataoglu, Anthony Sanchez-Forteza, Muhammed Amir Essibayi, Abdullah Keles, Sandeep Muram, Howard Riina, Arwin Rezai, Sahin Hanalioglu, Ufuk Erginoglu, Johannes Pöppe, Davide Simonato, Yan-Lin Li, Sandeep Kandregula, Dhairya Lakhani, Christoph Griessenauer, Rahim Abo Kasem, Alejandro Spiotta, Ajit Puri, Jasmeet Singh, Anna Luisa Kuhn, Jan Karl Burkhardt, Robert Starke, Laligam Sekhar, Michael Levitt, David Altschul, Neil Haranhalli, Malia Mcavoy, Paul Foreman, Osama Zaidat, Mohammad Almajali, Hakeem Shakir, Alfred Pokmeng See, Adib Abla, Aashay Patel, Andrew Nguyen, Matthew Koch, Visish Srinivasan, Peng Roc Chen, Spiros Blackburn, Ketan Bulsara, Peter Kan, Louis Kim, Omar Choudhri, Stavropoula Tjoumakaris, Pascal Jabbour, Amey Savardekar, Hugo Cuellar, Michael Lawton, Bharat Guthikonda, Jacques Morcos, Jason Sheehan

Department of Neurology Faculty Papers

INTRODUCTION: Patient and arteriovenous malformation (AVM) characteristics that portend success after treatment for low-grade brain AVMs remain unknown.

PATIENTS AND METHODS: We utilised the MISTA multicentre registry to identify patients with Spetzler-Martin (SM) grade I or II AVMs treated with stand-alone curative-intent intervention (resection, stereotactic radiosurgery [SRS] or endovascular embolisation). Bivariate and multivariable analyses were performed to identify patient and AVM characteristics predictive of complete obliteration or favourable outcome (complete obliteration without new permanent deficit or post-treatment haemorrhage).

RESULTS: A total of 522 patients were included (292 microsurgery, 152 SRS, 78 embolisation). Complete obliteration rates differed between microsurgery (95.9%), SRS …


Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier Aug 2026

Variation In Meningioma Recurrence Risk Estimates Across Observational Cohorts: The Influence Of Calendar Time, Who Classifications, Geographical Settings, And Healthcare Systems, Christian Mirian, Lasse Rehné Jensen, Adam Gorm Hoffmann, Tareq A Juratli, Anders Broechner, Sverre H Torp, Helen A Shih, Ramin A Morshed, Jacob S Young, Stephen T Magill, Luca Bertero, Walter Stummer, Dorothee Cäcilia Spille, Benjamin Brokinkel, Soichi Oya, Satoru Miyawaki, Nobuhito Saito, Martin Proescholdt, Yasuhiro Kuroi, Konstantinos Gousias, Matthias Simon, Jennifer Moliterno, Ricardo Prat-Acin, Stéphane Goutagny, Vikram C Prabhu, John T Tsiang, Johannes Wach, Erdem Güresir, Junkoh Yamamoto, Young Zoon Kim, Joo Ho Lee, Daniel W Kim, Matthew Koshy, Karthikeyan Perumal, Mustafa K Baskaya, Donald M Cannon, Dennis C Shrieve, Chang-Ok Suh, Jong Hee Chang, Maria Kamenova, Sven Straumann, Jehuda Soleman, Ilker Y Eyüpoglu, Tony Catalan, Austin Lui, Philip V Theodosopoulos, Michael W Mcdermott, Fang Wang, Pedro Góes, Manoel Antonio De Paiva Neto, Ricardo Komotar, Michael E Ivan, Aria Jamshidi, Evan Luther, Luis Souhami, Marie-Christine Guiot, Tamás Csonka, Toshiki Endo, Olivia Claire Barrett, Randy Jensen, Tejpal Gupta, Akash J Patel, Tiemo J Klisch, Jun Won Kim, Francesco Maiuri, Valeria Barresi, María Dolores Tabernero, Simon Skyrman, Ian Law, Bjarne Winther Kristensen, Tina Nørgaard Munch, Torstein Meling, Kåre Fugleholm, Paul Blanche, Tiit Mathiesen, Andrea Daniela Maier

Duncan NRI Faculty and Staff Publications

Purpose: Recurrence risk estimates underpin meningioma research, including molecular classification and clinical trial benchmarking, yet are often based on retrospective or historical data. The aim of this study was to assess the variation of recurrence risk estimates across calendar periods, WHO classification editions, geographical settings, and healthcare systems.thetermine METHODS: We analyzed 4,111 patients with primary WHO-1/-2 meningiomas from 31 centers in 15 countries (1990-2019). Recurrence was defined according to local radiological assessment. The 5- and 10-year recurrence risks were estimated using regression standardization with inverse probability of censoring weights, adjusting for key clinical, surgical, and histopathological variables.

Results: Recurrence risk …


Mechanism Of Injury And Fracture Status Influence Outcomes After Central Cord Injury, Karlo M. Pedro, Mohammed Ali Alvi, Kathleen Zang, Christopher Lozano, Jetan H. Badhiwala, Jefferson R. Wilson, James Harrop, James D. Guest, Bizhan Aarabi, Christopher I. Shaffrey, Michael G. Fehlings Aug 2026

Mechanism Of Injury And Fracture Status Influence Outcomes After Central Cord Injury, Karlo M. Pedro, Mohammed Ali Alvi, Kathleen Zang, Christopher Lozano, Jetan H. Badhiwala, Jefferson R. Wilson, James Harrop, James D. Guest, Bizhan Aarabi, Christopher I. Shaffrey, Michael G. Fehlings

Department of Neurosurgery Faculty Papers

Central cord syndrome (CCS) is the most common form of incomplete cervical spinal cord injury (SCI), yet its optimal management remains controversial. We examined whether stratifying CCS by injury stability improves treatment assessment. CCS was defined as an American Spinal Injury Association Impairment Scale (AIS) C/D cervical SCI with a ≥5-point lower-upper extremity motor score difference and classified as CCS-stable (CCS-S) or -unstable (CCS-U) based on the absence or presence of fracture/dislocation. Functional recovery at 1 year was assessed using the functional independence measure (FIM) motor score. Among 291 patients, 131 (45%) had CCS-S. These patients were older and more …


International Federation Of Clinical Neurophysiology Standardized Stereo-Electroencephalography Terminology, Birgit Frauscher, Guoping Ren, Chifaou Abdallah, Fabrice Bartolomei, Milan Brazdil, Francine Chassoux, Patrick Chauvel, Mark Cook, Beate Diehl, Guada Fernandez Baca Vaca, Stefano Francione, Vadym Gnatkovsky, Walter Gonzalez, Akio Ikeda, Jean Gotman, Julia Jacobs, Lara Jehi, Philippe Kahane, Hui Ming Khoo, Sam Lhatoo, Louis Maillard, Daniel Mansilla, Aileen Mcgonigal, Ioana Mindruta, Dang Khoa Nguyen, Piero Perucca, Ivan Rektor, Sylvain Rheims, Philippe Ryvlin, Stephan Schuele, Andreas Schulze-Bonhage, Margitta Seeck, Jaysingh Singh, Michael Sperling, Rainer Surges, Laura Tassi, Eugen Trinka, Manjari Tripathi, Shuang Wang, Samuel Wiebe, Gregory Worrell, Sandor Beniczky Aug 2026

International Federation Of Clinical Neurophysiology Standardized Stereo-Electroencephalography Terminology, Birgit Frauscher, Guoping Ren, Chifaou Abdallah, Fabrice Bartolomei, Milan Brazdil, Francine Chassoux, Patrick Chauvel, Mark Cook, Beate Diehl, Guada Fernandez Baca Vaca, Stefano Francione, Vadym Gnatkovsky, Walter Gonzalez, Akio Ikeda, Jean Gotman, Julia Jacobs, Lara Jehi, Philippe Kahane, Hui Ming Khoo, Sam Lhatoo, Louis Maillard, Daniel Mansilla, Aileen Mcgonigal, Ioana Mindruta, Dang Khoa Nguyen, Piero Perucca, Ivan Rektor, Sylvain Rheims, Philippe Ryvlin, Stephan Schuele, Andreas Schulze-Bonhage, Margitta Seeck, Jaysingh Singh, Michael Sperling, Rainer Surges, Laura Tassi, Eugen Trinka, Manjari Tripathi, Shuang Wang, Samuel Wiebe, Gregory Worrell, Sandor Beniczky

Department of Neurology Faculty Papers

OBJECTIVE: Stereo-electroencephalography (SEEG) is an intracranial EEG methodology used in presurgical epilepsy evaluation to precisely delineate the epileptogenic zone and associated networks. Although established for decades, its global adoption has accelerated due to a favorable safety profile and clinical effectiveness. However, inconsistent terminology limits comparability of findings and multicenter collaboration. This guideline addresses this gap by providing standardized SEEG terminology based on international consensus.

METHODS: A working group of 41 experts appointed by the International Federation of Clinical Neurophysiology (IFCN) Executive Committee used a modified Delphi process to develop standardized terminology. The process included two meetings and four Delphi rounds, …


Selective Loss Of Primary Cilia And Neurotrophic Signaling In G51d Α-Synuclein Mice Highlights A Common Pathway To Parkinson’S Disease, Yu-En Lin, Ebsy Jaimon, Youngdoo Kim, Annabeth Loftman, Aaran Vijayakumaran, Benjamin D W Belfort, Claire Y Chiang, Benjamin R Arenkiel, Huda Y Zoghbi, Suzanne R Pfeffer Aug 2026

Selective Loss Of Primary Cilia And Neurotrophic Signaling In G51d Α-Synuclein Mice Highlights A Common Pathway To Parkinson’S Disease, Yu-En Lin, Ebsy Jaimon, Youngdoo Kim, Annabeth Loftman, Aaran Vijayakumaran, Benjamin D W Belfort, Claire Y Chiang, Benjamin R Arenkiel, Huda Y Zoghbi, Suzanne R Pfeffer

Duncan NRI Faculty and Staff Publications

Parkinson's disease is characterized by dopaminergic neuron loss and accumulation of α-synuclein aggregates in the brain. G51D α-synuclein knock-in mice provide a genetically and clinically relevant model of disease, exhibiting early olfactory deficits, age-dependent motor impairment, and progressive phospho-α-synuclein accumulation. In multiple Parkinson's disease models, striatal cholinergic and parvalbumin interneurons, as well as astrocytes, lose primary cilia and the neurotrophic signaling needed to sustain dopaminergic neurons. We show here that G51D α-synuclein mice share these phenotypes. Phospho-Ser129 α-synuclein accumulation correlates with cilia loss in cholinergic interneurons but not in spiny projection neurons that accumulate higher phospho-α-synuclein levels. In the piriform …


Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei Aug 2026

Remarkable Seizure Reduction With Trofinetide Treatment In An Adult With Rett Syndrome: A Case Report, Semihan Adegbite, Pooneh Memar Ardestani, Maromi Nei

Department of Neurology Faculty Papers

No abstract provided.


Lineage Tracing Reveals A Shared Cellular Origin For Supraclavicular Brown And Inguinal Beige Adipocytes, Yali Ran, Kai Zhang, Yi-Ting Shen, Qianxing Mo, Ziyi Wang, Hari Krishna Yalamanchili, Sharon John, Mari Kogiso, Xia Gao, Chunmei Wang, Tanvi Sinha, Brian L Black, Miao-Hsueh Chen Aug 2026

Lineage Tracing Reveals A Shared Cellular Origin For Supraclavicular Brown And Inguinal Beige Adipocytes, Yali Ran, Kai Zhang, Yi-Ting Shen, Qianxing Mo, Ziyi Wang, Hari Krishna Yalamanchili, Sharon John, Mari Kogiso, Xia Gao, Chunmei Wang, Tanvi Sinha, Brian L Black, Miao-Hsueh Chen

Duncan NRI Faculty and Staff Publications

The metabolic importance of brown adipose tissue (BAT) has been recognized, but its origins, particularly supraclavicular BAT (scBAT), remain unclear. Here, we traced scBAT to Mef2c-anterior heart field (AHF)-marked cells. Mef2c-AHF-marked cells isolated from scBAT can spontaneously differentiate into brown adipocytes, express mesenchymal stem cell markers, and can be isolated from the stromal-vascular fraction (SVF) of wild-type scBAT as [CD31


Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza Aug 2026

Digital Markers For Passive Remote Monitoring Of Bipolar Disorder: Systematic Review, Thomas P Kutcher, Isha Chakraborty, Kristin Kostick-Quenet, Akane Sano, Nidal Moukaddam, Jeffrey A Herron, Wayne K Goodman, Sameer A Sheth, Ashutosh Sabharwal, Nicole R Provenza

Duncan NRI Faculty and Staff Publications

Background: Bipolar disorder (BD) features episodic shifts among mania, hypomania, depression, mixed states, and euthymia. Timely detection of mood transitions is difficult due to infrequent clinical touchpoints. Digital health technologies, including wearables and smartphones, offer a unique opportunity to passively and continuously monitor behavior and physiology that could reflect underlying mood dynamics in real-world settings.

Objective: This study aimed to systematically review passively collected digital markers for BD mood states, characterize devices/modalities and analytic approaches, appraise risk of bias, and identify design gaps and priorities for clinical translation.

Methods: Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) …


A Rare Sight: Isolated Third Nerve Palsy As The Sole Presentation Of A Non-Functional Pituitary Adenoma, Jorge A. Aboytes, Jose J. Loayza, Ivan Mogollon, Ismael Cantu Aug 2026

A Rare Sight: Isolated Third Nerve Palsy As The Sole Presentation Of A Non-Functional Pituitary Adenoma, Jorge A. Aboytes, Jose J. Loayza, Ivan Mogollon, Ismael Cantu

Research Colloquium

Introduction: Hypopituitarism results from insufficient pituitary hormone production, often due to adenomas—accounting for ~15% of intracranial tumors. Non-functional adenomas, typically affecting older adults, may present with visual field deficits, headaches, or cranial nerve palsies when extending into the cavernous sinus. Isolated oculomotor (third nerve) palsy is a rare initial manifestation.

Case: A 46-year-old man with uncontrolled type 2 diabetes presented with acute right-sided headache, diplopia, ptosis, and right leg weakness. He had right ptosis, a fixed dilated pupil, facial droop, and right leg weakness. Given concern for stroke, he received thrombolytic therapy with partial leg improvement, but persistent diplopia and …


Th17 Effector Cytokines Induce Shared And Distinct Microglial And Endothelial Cell Responses In A Mouse Model For Post-Streptococcal Encephalitis, Charlotte Wayne, Uğur Akcan, Travis Faust, Violeta Durán-Laforet, Danny Jamoul, Luca Bremner, Nicole Ampatey, Büşra Akcan, Sarah Ho, Bogoljub Ciric, Shannon Delaney, Wendy Vargas, Susan Swedo, Vilas Menon, Dorothy Schafer, Tyler Cutforth, Dritan Agalliu Aug 2026

Th17 Effector Cytokines Induce Shared And Distinct Microglial And Endothelial Cell Responses In A Mouse Model For Post-Streptococcal Encephalitis, Charlotte Wayne, Uğur Akcan, Travis Faust, Violeta Durán-Laforet, Danny Jamoul, Luca Bremner, Nicole Ampatey, Büşra Akcan, Sarah Ho, Bogoljub Ciric, Shannon Delaney, Wendy Vargas, Susan Swedo, Vilas Menon, Dorothy Schafer, Tyler Cutforth, Dritan Agalliu

Department of Neurology Faculty Papers

Group A Streptococcus (GAS) infections cause neuropsychiatric complications in children, but the mechanisms linking peripheral infection to brain dysfunction remain unclear. Using mouse genetics, single-cell RNA sequencing, and spatial transcriptomics, we show that GAS infections induce inflammatory transcriptional programs in microglia and brain endothelial cells (BECs), accompanied by loss of blood-brain barrier (BBB) gene expression in female mice. Spatial transcriptomic analyses reveal that GAS-responsive microglia localize near infiltrating CD4+ T cells. Several microglial chemokines induced in mice are elevated in sera from affected patients. Deletion of GM-CSF in CD4⁺ T cells partially reduces microglial chemokine gene expression, without restoring BBB …


Relationship Identification Between Triggers And Changes In The Brain And The Overall Human Electrophysiology During Migraines, Dominic Sandell, Jonah Dematto, Gianpiero Lara, Jasmine Rosales, Legacy Wilson, Zachary Young Aug 2026

Relationship Identification Between Triggers And Changes In The Brain And The Overall Human Electrophysiology During Migraines, Dominic Sandell, Jonah Dematto, Gianpiero Lara, Jasmine Rosales, Legacy Wilson, Zachary Young

Discovery Day - Daytona Beach

One of the most common neurological conditions in the world is migraines; nearly 1/4th of the working population suffers from this condition and exhibits a large variety of triggers. The current treatment method for migraine uses few different medications for all migraines, regardless of triggers. Our hypothesis is that there is a specific relationship between the triggers of migraines and the electrical changes in the brain during migraines. It is known that electrical activity in the brain occurs during migraines; it is unclear whether these changes differ across triggers. The study incorporates two different data collection methods: electrophysiological tests (Electroencephalogram …


Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird Aug 2026

Translational Reading Frame Predicts The Pathogenicity Of C-Terminal Frameshift Deletions In Mecp2, Jacky Guy, Elena Hein, Beatrice Alexander-Howden, Timur Von Bock Und Polach, Tricia Mathieson, Benjamin P Kleinstiver, Huda Y Zoghbi, Adrian Bird

Duncan NRI Faculty and Staff Publications

Mutations in the MECP2 gene cause the severe neurological disorder Rett syndrome. A cluster of frameshift-causing C-terminal deletions (CTDs) removes ~100 amino acids and accounts for approximately 10% of RTT-causing mutations. Their pathogenicity is unexpected because this C-terminal domain is dispensable in mice. Analysis of pathogenic and benign human MECP2 variants reveals that some individuals with apparently typical CTDs do not develop Rett syndrome, confirming that C-terminal truncations are not intrinsically pathogenic. Using human sequence data and mouse models we show that pathogenicity results from a marked reduction in MeCP2 levels and depends on the presence of a proline proline …


Frequency And Outcome Of Peg Tube Implantations In Hospitalized Parkinson's Disease Patients, Rachael M. Burke, Ruina He, Hikaru Kamo, Tejas R. Mehta, Anne Brooks, Adrianne Smiley, Michael S. Okun, Christopher W. Hess, Matthew A. Remz Aug 2026

Frequency And Outcome Of Peg Tube Implantations In Hospitalized Parkinson's Disease Patients, Rachael M. Burke, Ruina He, Hikaru Kamo, Tejas R. Mehta, Anne Brooks, Adrianne Smiley, Michael S. Okun, Christopher W. Hess, Matthew A. Remz

Department of Neurology Faculty Papers

BACKGROUND: Dysphagia is a known complication of Parkinson's Disease (PD). Percutaneous endoscopic gastrostomy (PEG) tube placement is a therapy for select patients with dysphagia. There is a paucity of information on the role of PEG in PD management.

OBJECTIVES: To investigate the frequency and outcomes of PEG tube implantations in hospitalized patients with PD.

METHODS: We performed a retrospective review of the PINC AI™ Healthcare Database of hospitalized PD patients between 2017 and 2023. PEG implantation, discharge status, and aspiration pneumonia (AP) diagnoses were collected and analyzed. The relationships between AP and PEG were evaluated using logistic regression. Generalized estimating …


Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh Aug 2026

Young-Onset Stroke In The Uae: A Single-Centre Retrospective Analysis Of Risk Factors And Outcomes, Sobia Siddiq, Saryia Adra, Kamel A. Samara, Batool Aldaher, Mohamad Emad Aldeen Mahfouz, Nour Sakan, Fathima Musfira, Roomiyah Riyaz Assadi, Ahlam Mohamed Almarzooqi, Hiba Jawdat Barqawi, Eman Abu-Gharbieh

Abington Jefferson Health Papers

BACKGROUND: Young-onset stroke represents a growing public health concern, yet data from the United Arab Emirates (UAE) remain limited. This study aimed to examine the risk factors and clinical outcomes associated with young-onset stroke in the UAE.

METHODS: A retrospective chart review was conducted on 419 patients aged below 50 years who were admitted at Al Qassimi Hospital, Sharjah, UAE, with a diagnosis of stroke between 2016 and 2022. Data on demographics, comorbidities, stroke subtype, management, and outcomes were collected and analyzed using Python-based statistical libraries.

RESULTS: The study population comprised predominantly of male individuals (78.28%), with most patients originating …


Shared Neural Geometries For Bilingual Semantic Representations In Human Hippocampal Neurons, Xinyuan Yan, Ana G Chavez, Melissa Franch, Kalman A Katlowitz, Ivy Gautam, Brian Kim, Aaditya Krishna, Aadit Shrivastava, Katie Van Arsdel, James Belanger, Assia Chericoni, Taha Ismail, Elizabeth A Mickiewicz, Danika Paulo, Hanlin Zhu, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Eleonora Bartoli, Nicole R Provenza, Seng Bum Michael Yoo, Benjamin Y Hayden, Sameer A Sheth Aug 2026

Shared Neural Geometries For Bilingual Semantic Representations In Human Hippocampal Neurons, Xinyuan Yan, Ana G Chavez, Melissa Franch, Kalman A Katlowitz, Ivy Gautam, Brian Kim, Aaditya Krishna, Aadit Shrivastava, Katie Van Arsdel, James Belanger, Assia Chericoni, Taha Ismail, Elizabeth A Mickiewicz, Danika Paulo, Hanlin Zhu, Alica M Goldman, Vaishnav Krishnan, Atul Maheshwari, Eleonora Bartoli, Nicole R Provenza, Seng Bum Michael Yoo, Benjamin Y Hayden, Sameer A Sheth

Duncan NRI Faculty and Staff Publications

The human brain has the remarkable ability to comprehend and express similar concepts in multiple languages. To understand how it does so, we examined responses of hippocampal neurons during passive listening, directed speaking, and spontaneous conversation in both English and Spanish in a small group of balanced bilinguals. We found a small number of putative "cross-language neurons," whose responses to equivalent words (e.g., "tierra" and "earth") are correlated. However, neurons' semantic tunings differed substantially by language, suggesting language-specific neural implementations. Instead, the crucial driver of translation was a preserved geometric organization of neural responses between the two languages, one that …


Endoscopic Versus Catheter-Based Minimally Invasive Evacuation Of Spontaneous Supratentorial Intracerebral Hemorrhage: A Systematic Review And Meta-Analysis, Shaan Patel, Shiva A Nischal, Kush M Kale, Angelette Mendonca, Keenan Piper, Pious D. Patel, Michael R. Gooch, Stavropoula Tjoumakaris, Pascal M. Jabbour Aug 2026

Endoscopic Versus Catheter-Based Minimally Invasive Evacuation Of Spontaneous Supratentorial Intracerebral Hemorrhage: A Systematic Review And Meta-Analysis, Shaan Patel, Shiva A Nischal, Kush M Kale, Angelette Mendonca, Keenan Piper, Pious D. Patel, Michael R. Gooch, Stavropoula Tjoumakaris, Pascal M. Jabbour

Department of Neurosurgery Faculty Papers

Minimally invasive surgery (MIS) for spontaneous supratentorial intracerebral hemorrhage (sICH) includes endoscopic evacuation and catheter-based evacuation (aspiration or drainage ± thrombolysis), but comparative performance remains uncertain. We performed a systematic review and meta-analysis comparing MIS approaches. PubMed, Embase, and CENTRAL were searched (December 2025) for studies in adults undergoing endoscopic or catheter-based MIS for supratentorial sICH. Random-effects meta-analysis was conducted. Prespecified subgroup analyses stratified catheter-based techniques by thrombolysis use. Risk of bias and certainty of evidence was assessed. Twenty-nine studies (8221 patients; 5041 endoscopic; 3180 catheter-based) were included. Endoscopic evacuation was associated with lower mortality (RR 0.64; 95% CI: 0.47–0.87; …


Developing A Deep-Learning Model To Segment White Matter Lesions In Cerebral Palsy, Varsha Kumar, Hyukjin Yun, Rose N. Gelineau-Morel, Avner Meoded Aug 2026

Developing A Deep-Learning Model To Segment White Matter Lesions In Cerebral Palsy, Varsha Kumar, Hyukjin Yun, Rose N. Gelineau-Morel, Avner Meoded

Posters

No abstract provided.


Demographic And Clinical Characteristics Of Participants In The Neuropsychiatric Genetics Of African Populations-Psychosis (Neurogap-Psychosis) Study: A Descriptive Analysis, Rocky Stroud, Kimberly Hook, Melkam Alemayehu, Lukoye Atwoli, Mark Baker, Lori Chibnik, Bizu Gelaye, Stella Gichuru, Symon Kariuki, Rehema Mwema Aug 2026

Demographic And Clinical Characteristics Of Participants In The Neuropsychiatric Genetics Of African Populations-Psychosis (Neurogap-Psychosis) Study: A Descriptive Analysis, Rocky Stroud, Kimberly Hook, Melkam Alemayehu, Lukoye Atwoli, Mark Baker, Lori Chibnik, Bizu Gelaye, Stella Gichuru, Symon Kariuki, Rehema Mwema

Internal Medicine, East Africa

Background Approximately 1.3 million individuals in sub-Saharan Africa, as well as millions of others worldwide, live with psychotic disorders. However, there is limited mental health research based on these populations and even less of a focus on neuropsychiatric genetics research within these settings.

Methods To address this gap, the Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis), a case-control study, collected data identifying genetic and environmental risk factors associated with psychotic disorders in Ethiopia, Kenya, South Africa, and Uganda. This paper describes baseline demographic and clinical characteristics of the 42,953 participants recruited between 2018–2023 and compares these characteristics by country and case …


The Effect Of Cerebellar Transcranial Direct Current Stimulation On Anxiety, Shivangi Bhardwaj Aug 2026

The Effect Of Cerebellar Transcranial Direct Current Stimulation On Anxiety, Shivangi Bhardwaj

All-Inclusive List of Electronic Theses and Dissertations

Anxiety is one of the most prevalent mental health disorders in the U.S. Individuals of all ages are affected by anxiety. Therefore, research into anxiety and its potential treatment has constantly been an area of interest. Newer approaches to managing anxiety include non-invasive stimulation techniques, such as Transcranial Direct Current Stimulation (tDCS), because of its accessibility and effectiveness. Past tDCS work typically focused on regions in the frontal lobe. However, tDCS over the cerebellum has not received as much attention compared to the cerebrum, despite recent work demonstrating cerebellar involvement in emotion processing. Thus, a better understanding of how cerebellar …


Defining The Value Of Elective Lumbar Fusion: A Systematic Review Of Existing Methodologies And Framework For The Operative Value Index, Advith Sarikonda, Anthony Chen, Theo S. Biddle, Danyal A. Quraishi, Preston Carey, Arbaz A. Momin, Matthews Lan, Dwight Mitchell Self, Ashmal S. Kabani, Ahilan Sivaganesan Aug 2026

Defining The Value Of Elective Lumbar Fusion: A Systematic Review Of Existing Methodologies And Framework For The Operative Value Index, Advith Sarikonda, Anthony Chen, Theo S. Biddle, Danyal A. Quraishi, Preston Carey, Arbaz A. Momin, Matthews Lan, Dwight Mitchell Self, Ashmal S. Kabani, Ahilan Sivaganesan

Department of Neurosurgery Faculty Papers

BACKGROUND: Despite wide variation in the outcomes and costs of lumbar fusion, few studies have integrated these domains together within a single metric to assess "value" (outcomes achieved per dollar spent). In this review, we sought to 1) characterize existing metrics of cost-effectiveness for lumbar fusion, 2) evaluate all applications of time-driven activity-based costing (TDABC) in spine surgery, and 3) outline the conceptual foundation for a standardized Operative Value Index (OVI).

METHODS: Two PRISMA-concordant systematic reviews were performed on PubMed and Scopus databases. The first review examined all studies which reported a cost-effectiveness metric for lumbar fusion. The second review …


Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson Aug 2026

Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson

Duncan NRI Faculty and Staff Publications

Admixed populations comprise a large portion of the human population worldwide, but are often excluded from genome-wide association studies (GWASs) due to analytic challenges. Our group developed Tractor, a local-ancestry-informed GWAS tool designed for admixed samples that produces accurate ancestry-specific effect sizes and boosts the discovery power to identify ancestry-enriched loci. However, Tractor operates under an assumption of unrelated samples. Here, to address this gap, we propose Tractor-Mix, which allows for well-calibrated association studies in datasets containing admixed samples with relatedness. Extensive simulations show that this method is competitive with other state-of-the-art approaches that do not produce ancestry-specific results. Empirical …


A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin Aug 2026

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin

Duncan NRI Faculty and Staff Publications

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …


Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto Aug 2026

Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Pigmentation plays multiple important roles in development, physiology and evolution. Melanization of the insect cuticle requires dopamine as a precursor of melanin and involves key enzymes in dopamine biosynthesis including Tyrosine hydroxylase (TH) and Dopa decarboxylase (Ddc). Some studies have hinted that disruption of the evolutionarily conserved Hippo signaling pathway, which has been primarily studied in the context of tissue growth, may lead to changes in cuticle pigmentation in the fruit fly Drosophila melanogaster. However, to our knowledge, there have not been any systematic investigations into their potential mechanistic links. In this study, we identified that all genes that comprise …


Correction To: A Double‑Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono Jul 2026

Correction To: A Double‑Edged Sword: Ethical And Psychological Implications Of Apoe Genotype Disclosure Across The Lifespan, Diego Iacono

Department of Neurology Faculty Papers

No abstract provided.