Publications
Featured Publication
Nature
Neural and behavioural state switching during hippocampal dentate spikes
Jordan S Farrell, Ernie Hwaun, Barna Dudok, Ivan Soltesz
Nature. Published online March 13, 2024. doi:10.1038/s41586-024-07192-8
DOI: 10.1038/s41586-024-07192-8
2024
Journal of Inherited Metabolic Disease
Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency
Henry H C Lee, Itay Tokatly Latzer, Mariarita Bertoldi, Guangping Gao, Phillip L Pearl, Mustafa Sahin, Alexander Rotenberg
J Inherit Metab Dis. 2024 Apr 6. doi: 10.1002/jimd.12735. Epub ahead of print. PMID: 38581234.
https://doi.org/10.1002/jimd.12735
Neurobiology of Disease
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
Neurobiol Dis. 2024 Jan;190:106386. doi: 10.1016/j.nbd.2023.106386. Epub 2023 Dec 16. PMID: 38110041.
https://doi.org/10.1016/j.nbd.2023.106386
2023
Genetics in Medicine
Clinical variants paired with phenotype: A rich resource for brain gene curation
Maya Chopra, Juliann M Savatt, Taylor I Bingaman, Molly E Good, Alexis Morgan, Caitlin Cooney, Allison M Rossel, Bryanna VanHoute, Ineke Cordova, Sonal Mahida, Virginia Lanzotti, Dustin Baldridge, Christina A Gurnett, Joseph Piven, Heather Hazlett, Scott L Pomeroy, Mustafa Sahin, Philip R O Payne, Erin Rooney Riggs, John N Constantino; Brain Gene Registry Consortium
Genet Med. 2023 Dec 4:101035. doi: 10.1016/j.gim.2023.101035. Epub ahead of print. PMID: 38059438.
DOI: 10.1016/j.gim.2023.101035
JAMA Pediatrics
Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit/Hyperactivity Disorder
Anne B Arnett, Elizabeth Harstad, Mia O’Connell, Katheryn Hayes, Stephanie Brewster, William Barbaresi, Ryan N Doan
JAMA Pediatr. 2023 Nov 20:e234952.
https://doi.org/10.1001/jamapediatrics.2023.4952
Therapeutic Advances in Rare Disease
Persistence of Autism Spectrum Disorder From Early Childhood Through School Age
Elizabeth Harstad, Ellen Hanson, Stephanie J Brewster, Rafael DePillis, Anna L Milliken, Gabriella Aberbach, Georgios Sideridis, William J Barbaresi
DOI: 10.1001/jamapediatrics.2023.4003
Therapeutic Advances in Rare Disease
Toward Representative Genomic Research: the Children’s Rare Disease Cohorts Experience
Zoë J. Frazier, Eurnestine Brown, Shira Rockowitz, Ted Lee, Bo Zhang, Abigail Sveden, Nancy L. Chamberlin, Kira A. Dies, Annapurna Poduri, Piotr Sliz and Maya Chopra on behalf of the CRDC Consortium
Therapeutic Advances in Rare Disease 2023 10.1177/263300402311814062.
https://doi.org/10.1177/26330040231181406
GeneReviews
ANKRD17-Related Neurodevelopmental Syndrome Synonym: Chopra-Amiel-Gordon Syndrome (CAGS)
Abigail Sveden, Christopher Gordon, Jeanne Amiel, Maya Chopra
Sveden A, Gordon CT, Amiel J, et al. ANKRD17-Related Neurodevelopmental Syndrome. 2022 Dec 22. In: Adam MP, Everman DB, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.
https://www.ncbi.nlm.nih.gov/books/NBK1116/
Current Protocols
A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids From Human Pluripotent Stem Cells
Dosh Whye, Delaney Wood, Wardiya Afshar Saber, Erika M. Norabuena, Nina R. Makhortova, Mustafa Sahin, Elizabeth D. Buttermore
Current Protocols, 3, e641 (2023).
https://doi.org/10.1002/cpz1.641
2022
Academic Press
Phenotyping of Human iPSC-derived Neurons: Patient-Driven Research
Edited by Elizabeth D. Buttermore
Phenotyping of Human iPSC-derived Neurons, Academic Press, 2023, ISBN 9780128222775, https://doi.org/10.1016/B978-0-12-822277-5.20001-1
Frontiers in Psychiatry
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons
Elizabeth D. Buttermore, Nickesha Anderson, Pin-Fang Chen, Nina R. Makhortova, Kristina H. Kim, Syed M. A. Wafa, Sean Dwyer, John M. Micozzi, Kellen D. Winden, Bo Zhang, Min-Joon Han, Robin J. Kleiman, Catherine A. Brownstein, Mustafa Sahin, and Joseph Gonzalez-Heydrich
Front. Psychiatry, 03 November 2022, Sec. Molecular Psychiatry, https://doi.org/10.3389/fpsyt.2022.924956
JAMA Neurology
Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis
Siddharth Srivastava, Sara Lewis, Julie Cohen, Bo Zhang, Bhooma Aravamuthan, Maya Chopra, Mustafa Sahin, Michael Kruer, Annapurna Poduri
JAMA Neurology, 2022; Volume 2, Issue 10 e568, https://doi.org/10.1001/jamaneurol.2022.3549
Molecular Therapy Methods & Clinical Development
GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy
Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin
Molecular Therapy Methods & Clinical Development. Volume 27, 8 December 2022, Pages 32-46.
https://doi.org/10.1016/j.omtm.2022.08.007
Frontiers in Integrative Neuroscience
Neural response to repeated auditory stimuli and its association with early language ability in male children with Fragile X syndrome
Winko An, Charles Nelson, and Carol Wilkinson
Front. Integr. Neurosci., 14 November 2022, https://doi.org/10.3389/fnint.2022.987184
Current Protocols
Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities
Dosh Whye, Delaney Wood, Kristina H. Kim, Cidi Chen, Nina Makhortova, Mustafa Sahin, Elizabeth D. Buttermore
Current Protocols, 2022; Volume 2, Issue 10 e568, https://doi.org/10.1002/cpz1.568
Human Molecular Genetics
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
Siddharth Srivastava, Booil Jo, Bo Zhang, Thomas Frazier, Anne Snow Gallagher, Fleming Peck, April R Levin, Sangeeta Mondal, Zetan Li, Rajna Filip-Dhima, Gregory Geisel, Kira A Dies, Amelia Diplock, Charis Eng, Rabi Hanna, Mustafa Sahin, Antonio Hardan, the Developmental Synaptopathies Consortium
Human Molecular Genetics, 2022; ddac111, https://doi.org/10.1093/hmg/ddac111
The American Journal of Human Genetics
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact
Elizabeth Buttermore, Stormy Chamberlain, Jannine Cody, Gregory Costain, Louis Dang, Andrew DeWoody, Yssa DeWoody, Kira Dies, Evan Eichler, Santhosh Girirajan, Marie Gramm, Alycia Halladay, Dennis Lal, Matthew Lalli, Tess Levy, Glennis Logsdon, Daniel Lowenstein, Heather Mefford, Jennifer Mulle, Alysson Muotri, Melissa Murphy, Eduardo Perez Palma, Stefan Pinter, Rebecca Pollak, Ryan Purcell, Rodney Samaco, Bina Shah, Karun Singh, Joyce So, Maria Sundberg, Surabi Veeraragavan, Vanessa Vogel-Farley, Anthony Wynshaw-Boris
The American Journal of Human Genetics. Volume 109, Issue 8, 2021, Pages 1353-1365.
https://doi.org/10.1016/j.ajhg.2022.07.003
Journal of Neurodevelopmental Disorders
Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers
Cartik Kothari, Siddharth Srivastava, Youssef Kousa, Rima Izem, Marcin Gierdalski, Dongkyu Kim, Amy Good, Kira A. Dies, Gregory Geisel, Hiroki Morizono, Vittorio Gallo, Scott L. Pomeroy, Gwenn A. Garden, Lisa Guay-Woodford, Mustafa Sahin & Paul Avillach
Journal of Neurodevelopmental Disorders 14, 24 (2022).
https://doi.org/10.1186/s11689-022-09434-0
Molecular Therapy
Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders
Beverly L. Davidson, Guangping Gao, Elizabeth Berry-Kravis, Allison M. Bradbury, Carsten Bönnemann, Joseph D. Buxbaum, Gavin R. Corcoran, Steven J. Gray, Heather Gray-Edwards, Robin J. Kleiman, Adam J. Shaywitz, Dan Wang, Huda Y. Zoghbi, Terence R. Flotte, Sitra Tauscher-Wisniewski, Cynthia J. Tifft, Mustafa Sahin
Molecular Therapy , Volume 30, Issue 7, 2022, Pages 2416-2428, ISSN 1525-0016,
https://doi.org/10.1016/j.ymthe.2022.05.014.
2021
The American Journal of Human Genetics
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
Maya Chopra, Meriel McEntagart, Jill Clayton-Smith, Konrad Platzer, Anju Shukla, Katta M. Girisha, Anupriya Kaur, Parneet Kaur, Rolph Pfundt, Hermine Veenstra-Knol, Grazia M.S. Mancini, Gerarda Cappuccio, Nicola Brunetti-Pierri, Fanny Kortüm, Maja Hempel, Jonas Denecke, Anna Lehman, Tjitske Kleefstra, Kyra E. Stuurman, Martina Wilke, Michelle L. Thompson, E. Martina Bebin, Emilia K. Bijlsma, Mariette J.V. Hoffer, Cacha Peeters-Scholte, Anne Slavotinek, William A. Weiss, Tiffany Yip, Ugur Hodoglugil, Amy Whittle, Janette diMonda, Juanita Neira, Sandra Yang, Amelia Kirby, Hailey Pinz, Rosan Lechner, Frank Sleutels, Ingo Helbig, Sarah McKeown, Katherine Helbig, Rebecca Willaert, Jane Juusola, Jennifer Semotok, Medard Hadonou, John Short, Naomi Yachelevich, Sajel Lala, Alberto Fernández-Jaen, Janvier Porta Pelayo, Chiara Klöckner, Susanne B. Kamphausen, Rami Abou Jamra, Maria Arelin, A. Micheil Innes, Anni Niskakoski, Sam Amin, Maggie Williams, Julie Evans, Sarah Smithson, Damian Smedley, Anna de Burca, Usha Kini, Martin B. Delatycki, Lyndon Gallacher, Alison Yeung, Lynn Pais, Michael Field, Ellenore Martin, Perrine Charles, Thomas Courtin, Boris Keren, Maria Iascone, Anna Cereda, Gemma Poke, Véronique Abadie, Christel Chalouhi, Padmini Parthasarathy, Benjamin J. Halliday, Stephen P. Robertson, Stanislas Lyonnet, Jeanne Amiel, Christopher T. Gordon
The American Journal of Human Genetics, Volume 108, Issue 6, 2021, Pages 1138-1150,ISSN 0002-9297, https://doi.org/10.1016/j.ajhg.2021.04.007.