Topic · Public Health, Environmental and Occupational Health · Medicine
OpenAlex topic; a paper is listed when OpenAlex scores it at least 0.5 for this topic.
12 papers
Tsung-Yeh Chou, Shreya Pandiri, Payam Zandiyeh, Luis A. Figueroa Fernandez, Dejian Lai, Ramesha M. Papanna, Lovepreet K. Mann
This study evaluates quantitative gait analysis in a sheep model of in-utero spina bifida repair, finding significant differences in gait parameters and classification accuracy between treated and control groups.
bioRxiv · Sep 18, 2026 · PreprintBioengineering
Mehmet Kızılaslan, Anas Abou Merhi, Joyce Koueik, Sydney P Kolstad, Jamila N Hamdan, Walid A. Farhat, Ligia Assumpção Papale, Reid S. Alisch, Timothy M. George, John C. Wellons, Bruna Corradetti, Richard H. Finnell, Hasan Khatib, Bermans J. Iskandar
The paper presents a multi-omics atlas of myelomeningocele in sheep, identifying heritable genetic and epigenetic factors and shared biological pathways across tissues.
bioRxiv · May 13, 2026 · PreprintGenetics
Maryam Clark, Timothy J. C. Edwards, Dawn Savery, Gabriel L. Galea, Nagaraj Samy, Erwin Pauws, Nicoletta Kessaris, Nicholas D. E. Greene, Andrew J. Copp
The paper demonstrates that Chiari II brain malformation arises secondary to open spina bifida in mice, showing structural brain and skull defects linked to neurogenesis and neuronal migration disturbances.
Disease Models & Mechanisms · Mar 18, 2026Peer-reviewedDevelopmental Biology
Hiu Nam Chan, Dawn Savery, Shreeta Chakraborty, Nina Wenzlitschke, Pedro P. Rocha, Andrew J. Copp
This study develops a new mouse model of encephalocele by over-expressing FGF3, 4, and 15, revealing the absence of posterior commissure and sub-commissural organ as a key developmental defect.
bioRxiv · Nov 10, 2025 · PreprintDevelopmental Biology
Lydia Youmans, C. Ravindranath Kamath, Sara Mansoorshahi, Myra Kurjee, Parkerson Laville, Ashabari Sprenger, Jeffrey A. Frost, Rachel K. Miller, Hope Northrup, Kit Sing Au
The paper identifies PTK2 variants associated with myelomeningocele risk through exome sequencing and functional assays in mice and Xenopus.
medRxiv · Jun 12, 2025 · PreprintGenetic & Genomic Medicine
Ioakeim Ampartzidis, Elliott M. Thompson, Yashica Gupta, Andrea Krstevski, Nicola Elvassore, Eirini Maniou, Paolo De Coppi, Gabriel L. Galea
bioRxiv · May 16, 2025 · PreprintDevelopmental Biology
Yoo-Jin Jiny Ha, Ashna Nisal, Isaac Tang, Chanjae Lee, Ishani Jhamb, Cassidy Wallace, Robyn E. Howarth, Sarah Schroeder, Keng Ioi Vong, Naomi Meave Ojeda, Fiza Jiwani, Chelsea Barrows, Sangmoon Lee, Nan Jiang, Arzoo M. Patel, , Joseph G. Gleeson
The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.
Nature · Mar 26, 2025Peer-reviewedGenetic & Genomic Medicine
Anna Speckert, Hui Ji, Kelly Payette, Patrice Grehten, Raimund Kottke, Samuel Ackermann, Beth Padden, Luca Mazzone, Ueli Moehrlen, SPINA BIFIDA STUDY GROUP ZURICH, Jakab András
The paper introduces OSBA, an open neuroimaging atlas for spina bifida aperta, providing standardized templates for spatial normalization and anatomical analysis in neonatal brains.
Data · Sep 17, 2024Peer-reviewedNeuroscience
Eirini Maniou, Faduma Farah, Abigail R. Marshall, Zoe Crane‐Smith, Andrea Krstevski, Αθανασία Σταθοπούλου, Nicholas D. E. Greene, Andrew J. Copp, Gabriel L. Galea
This study shows that disrupting Fgfr1 in mice causes localized spinal mis-patterning and a terminal myelocystocele-like phenotype after neural tube closure.
Development · Sep 27, 2023Peer-reviewedDevelopmental Biology
Taylor N. Takla, Jinghui Luo, Roksolana Sudyk, Joy Huang, J. Clayton Walker, Neeta L. Vora, Jonathan Z. Sexton, Jack M. Parent, Andrew M. Tidball
This study identifies a shared mechanism of increased lumen size due to reduced apical constriction in brain organoids caused by valproic acid and SHROOM3 knockout.
Cells · Jun 23, 2023Peer-reviewedNeuroscience
Vanessa Aguiar‐Pulido, Paul Wolujewicz, Alexander Martinez‐Fundichely, Eran Elhaik, Gaurav Thareja, Alice AbdelAleem, Nader Chalhoub, Tawny N. Cuykendall, Jamel Al-Zamer, Yunping Lei, Haitham El Bashir, James M. Musser, Abdulla Al-Kaabi, Gary Michael Shaw, Ekta Khurana, , Margaret Elizabeth Ross
The paper uses systems biology analysis of whole-genome sequences from 298 SB case-control pairs to identify key pathways and genes associated with spina bifida risk.
Proceedings of the National Academy of Sciences · Dec 16, 2021Peer-reviewedGenomics
Ana Rolo, Gabriel L. Galea, Dawn Savery, Nicholas D. E. Greene, Andrew J. Copp
This paper introduces a novel mouse model of encephalocele showing it arises post-neurulation and can share genetic causes with anencephaly.
Disease Models & Mechanisms · Jan 1, 2019Peer-reviewedDevelopmental Biology