Collaboration as a Catalyst for Advancing Rare Disease Research: The Experience of the Rare Diseases Clinical Research Network

Mirna Chehade, Sheridan Meyers, Talaya McCright-Gill, Rogerwene Gifford, Mustafa Sahin, Michael E Shy, Michele Manion, Dakota Campbell, Marc E Rothenberg, Maurizio Macaluso

Clin Transl Sci.

CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulators

Marvin Ziegler, Cedric Günter,  Julian E Alecu, Xutong Xue, Hyo-Min Kim, Afshin Saffari, Alexandra K Davies, Mustafa Sahin, Darius Ebrahimi-Fakhari*

JCI Insight.

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex

Cancan Zhang, Runqiu Wang, Jamie K Capal, Siddharth Srivastava*, Rajna Filip-Dhima, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Bo Zhang ; TACERN Study Group

Comput Biol Med..

Closing the Gap to Interventions for Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): Protocol for a Longitudinal Study of TAND Severity, Predictors, and Caregiver Well-Being (TANDem-2)

Petrus J de Vries, Nola Chambers, Erin Campbell, Lucas Gutierrez-Lafrentz, Tosca-Marie Heunis, Liezl Schlebusch, Guillaume Beaure d’Augères, Stacey Bissell, Anna Byars, Jamie Capal, Laís Cardozo, Sebastian Cukier, Peter Davis*, Naomi Beth Epstein, Carla Fladrowski, Jennifer Flinn, Tanjala Gipson, Sarah Louise Goy, John Christopher Kingswood, Darcy Krueger, Francesca Little, Sugnet Lubbe, Rebecca Mitchell, Micaela Rozenberg, Mustafa Sahin, Mitchell Silva, Catherine Smith, Shoba Srivastava, Megumi Takei, Agnies van Eeghen, Mary Vasseghi, Jan-Paul Wagenaar, Robert Waltereit, Liesbeth De Waele, Anna C Jansen

JMIR Res Protoc.

Early Vigabatrin Treatment Before Seizure Onset Decreased Interictal Epileptiform Discharges Over the Duration of the PREVeNT Study

Tarrant O McPherson, E Martina Bebin, Laura S Farach, Aynara C Wulsin, Peter Davis*, Kit Sing Au, Mustafa Sahin, Joyce Y Wu, Katherine S Taub, Rajsekar Rajaraman, Stephanie Randle, William M McClintock, Mary Kay Koenig, Mike D Frost, Hope Northrup, Klaus Werner, Danielle Nolan, Michael Wong, Jessica Krefting, Kalyani Peri, Gary Cutter, Darcy Krueger, Jurriaan M Peters, Brenda E Porter; PREVeNT Study Group

Pediatr Neurol.

Genomic modifiers of malignant and neurodevelopmental phenotypes in individuals with PTEN hamartoma tumor syndrome

Lamis Yehia, Lin Li, Gideon Idumah, Thomas W Frazier, Vladimir Makarov, Aritra Bose, Laxmi Parida, Antonio Hardan, Julian A Martinez-Agosto, David M Ritter, Mustafa Sahin, Charis Eng, Ying Ni; Developmental Synaptopathies Consortium

NPJ Genom Med.

An Open-Source Pipeline for Calcium Imaging and All-Optical Physiology in Human Stem Cell-Derived Neurons

Wardiya Afshar-Saber*, Federico M Gasparoli, Ziqin Yang, Nicole A Teaney, Rachel Hobson, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Ranit Karmakar, Elizabeth D Buttermore, Kellen D Winden*, Cidi Chen, Mustafa Sahin

Adv Sci (Weinh)

Early Vocal Development in Tuberous Sclerosis Complex Predicts Language but Not Autism Outcomes

Tanjala T Gipson, Edina R Bene, Ching-Chi Yang, Lynn K Perry, Daniel M Messinger, Mustafa Sahin, Darcy A Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu; TACERN Study Group; D Kimbrough Oller

Pediatr Neurol.

Sensitivity Analysis of the Efficacy of Everolimus for Neurocognitive Symptoms in PTEN Hamartoma Tumor Syndrome

Yiran Liu, Runqiu Wang, Siddharth Srivastava*, Booil Jo, Thomas Frazier, Rajna Filip-Dhima, Charis Eng, Rabi Hanna, Mustafa Sahin, Antonio Y Hardan, Bo Zhang

Adv Ther

Convolutional neural networks for automatic tuber segmentation and quantification of tuber burden in tuberous sclerosis complex

Iván Sánchez Fernández, Matheus D Soldatelli, Gillian N Miller, Catharina F Gout, Ellen C Broekhuizen, Iris C J den Hertog, Daan A Pijs, Errol Apostolopoulos, Prabhjot Kaur, Abdelhakim Ouaalam, Martina E Bebin, Hope Northrup, Darcy A Krueger, Joyce Y Wu, Alexander L Cohen, Mustafa Sahin, Davood Karimi, Simon K Warfield, Jurriaan M Peters; TACERN Study Group and the Developmental Synaptopathies Consortium–RDCRN Study Group

Epilepsia.

Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study

Pauline J Brandon Bravo Bruinsma, Aristides Hadjinicolaou, Rajsekar R Rajaraman, Shaun A Hussain, Darcy A Krueger, Mustafa Sahin, Hope Northrup, Brenda E Porter, Joyce Y Wu, E Martina Bebin, Jurriaan M Peters; TACERN Study Group

J Child Neurol.

Neurodevelopmental Outcomes From the PREVeNT Trial

Sarah E O’Kelley, Jamie K Capal, Tarrant O McPherson, Kristina E Patrick, Deborah A Pearson, Peter E Davis*, Kristn Currans, Anna W Byars, Brenda E Porter, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Gary R Cutter, Darcy A Krueger, E Martina Bebin; PREVeNT Study Group

Pediatr Neurol

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes

Maria Sundberg*, Carole Shum, Erika M Norabuena, Nina R Makhortova, Cidi Chen, Lucy Yu, Emma V Wightman, Kristina Kim, Sang Yeon Han, Jennifer Howe, Annapurna Poduri, Elizabeth D Buttermore, Stephen W Scherer, Mustafa Sahin

Neurobiol Dis

Focal DEPDC5 loss without disruption to cerebral cortical neuron migration recapitulates DEPDC5-related focal epilepsy

Karenna J Groff, Yini Liang, Christopher Morici, Jinita Modasia, Leena Mehendale, Nishtha Gupta, Angelica D’Amore, Yongho Choe, Mustafa Q Hameed, Alexander Rotenberg, Mustafa Sahin, Christopher J Yuskaitis*

JCI Insight

Excitatory cortical neurons from CDKL5 deficiency disorder patient-derived organoids show early hyperexcitability not identified in neurogenin2 induced neurons

Madison R Glass*, Dosh Whye, Nickesha C Anderson*, Delaney Wood, Nina R Makhortova, Taryn Polanco, Kristina H Kim, Kathleen E Donovan*, Gayathri Rajaram Srinivasan, Lorenzo Vaccaro, Ashish Jain, Davide Cacchiarelli, Liang Sun, Heather Olson, Elizabeth D Buttermore, Mustafa Sahin

Neurobiol Dis

Which Score for What? Operationalizing Standardized Cognitive Test Performance for the Assessment of Change

Cristan Farmer, Audrey Thurm, Tanvi Das, E Martina Bebin, Jonathan A Bernstein, Elizabeth Berry-Kravis, Joseph D Buxbaum, Charis Eng, Thomas Frazier, Antonio Y Hardan, Alexander Kolevzon, Darcy A Krueger, Julian A Martinez-Agosto, Hope Northrup, Craig M Powell, Latha Valluripalli Soorya, Joyce Y Wu, Mustafa Sahin; Developmental Synaptopathies Consortium

Am J Intellect Dev Disabil

Genetic Subtypes of Phelan-McDermid Syndrome Exhibit Similar Rates of Change Despite Differences in Level of Impairment in Developmental Constructs

Tess Levy, Cristan Farmer, Siddharth Srivastava*, Kristina Johnson*, Jadyn Trayvick, Camille Brune, Alexandra Massa, Hailey Silver, Paige M Siper, Jessica Zweifach, Danielle Halpern, Jennifer H Foss-Feig, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Mustafa Sahin, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Alexander Kolevzon; Developmental Synaptopathies Consortium

Am J Intellect Dev Disabil

Retrospective Reports of Skill Attainment and Loss in Phelan-McDermid Syndrome

Cristan Farmer, Ivy Giserman-Kiss, Ellora Mohanty, Latha Valluripalli Soorya, Mustafa Sahin, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Jonathan A Bernstein, Audrey Thurm

Am J Intellect Dev Disabil

Characterizing Developmental and Behavioral Profiles in Developmental Synaptopathies to Inform Clinical Trial Endpoints

Latha Valluripalli Soorya, Camille W Brune, Cristan A Farmer, Edith V Ocampo, Natalie I Berger, Deborah A Pearson, Robyn M Busch, Patricia Klaas, Paige Siper, Kristn Currans, Amanda C Gulsrud, Jennifer M Phillips, Rajna Filip-Dhima, Sarah E O’Kelley, Thomas W Frazier, Tess Levy, Allison L Wainer,  Joseph D Buxbaum, Craig M Powell, Jonathan A Bernstein, Simon K Warfield, Darcy A Krueger, E Martina Bebin, Hope Northrup, Shafali S Jeste*, Alexander Kolevzon, Elizabeth Berry-Kravis, Mustafa Sahin, Siddharth Srivastava*, Audrey Thurm; Developmental Synaptopathies Consortium

Am J Intellect Dev Disabil

Longitudinal Trajectory of Adaptive Skills in Phelan-McDermid Syndrome

Siddharth Srivastava*, Kristina Johnson*, Cristan Farmer, Tess Levy, Audrey Thurm, Latha Valluripalli Soorya, Rajna Filip-Dhima, Aisling Quinlan, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon

Am J Intellect Dev Disabil

mTORC1-selective inhibitors rescue cellular phenotypes in TSC iPSC-derived neurons

Elizabeth D Buttermore, Gayathri Rajaram Srinivasan, Hellen Jumo, Amanda C Swanson, Benjamin O’Kelly, Nina R Makhortova, Mustafa Sahin, Stelios T Tzannis

Frontiers in Neuroscience

An open-source pipeline for calcium imaging and all-optical physiology in human stem cell-derived neurons

Wardiya Afshar-Saber*, Federico M Gasparoli, Ziqin Yang, Nicole A Teaney, Lahin Lalani, Gayathri Srinivasan, Dosh Whye, Elizabeth D Buttermore, Kellen D Winden*, Cidi Chen, Mustafa Sahin

BioRxiv [Preprint]

Developmental Trajectories of Adaptive Functioning and Behavior Problems in Children With Co-Occurring Tuberous Sclerosis Complex and Autism Spectrum Disorder, With and Without Seizures

Lynnel C Goodman, Melissa A Richard, John P Woodhouse, S Katie Z Ihnen, Jamie K Capal, Hope Northrup, Darcy A Krueger, E Martina Bebin, Joyce Y Wu, Mustafa Sahin, Deborah A Pearson; TACERN Study Group

Pediatr Neurol

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

Olivia J Veatch, Jomol Mathew, Shira Rockowitz, Dustin Baldridge, Alyssa Wetzel, Maria Niarchou, Megan Clarke, Prabhu Shankar, Suma Shankar, Julie S Cohen, Kendell German, Seth Berger, Angela Sellitto, Inez Y Oh, Rashi Raizada, Piotr Sliz, Selvin Soby, Mihailo Kaplarevic, Dan Doherty, Andrea Gropman, Constance Smith-Hicks, Jeffrey L Neul, Virginia Lanzotti, Benjamin Darbro, Qiang Chang, Mustafa Sahin, Maya Chopra

Ther Adv Rare Dis

Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study

Pauline J Brandon Bravo Bruinsma, Aristides Hadjinicolaou, Rajsekar R Rajaraman, Shaun A Hussain, Darcy A Krueger, Mustafa Sahin, Hope Northrup, Brenda E Porter, Joyce Y Wu, E Martina Bebin, Jurriaan M Peters; TACERN Study Group

J Child Neurol

Genome Sequencing Uncovers Additional Findings in Phelan-McDermid Syndrome

Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon-Lipkin, Maria T Acosta, Deena Zeltser, Nadjalisse Reynolds-Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Jonathan A Bernstein, Mari Tokita, Bryce A Seifert, Rajarshi Ghosh, Magdalena A Walkiewicz, Audrey Thurm

Am J Med Genet B Neuropsychiatr Genet

Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)

Nola Chambers, Tosca-Marie Heunis, Sugnet Gardner-Lubbe, Jamie K Capal, Stacey Bissell, Anna W Byars, Sebastián Cukier, Peter E Davis*, Jennifer Flinn, Tanjala T Gipson, J Chris Kingswood, Aubrey J Kumm, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M van Eeghen, Robert Waltereit, Darcy A Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C Jansen, Petrus J de Vries

Orphanet J Rare Dis

AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth

Yann Cormerais, Samuel C Lapp, Krystle C Kalafut, Madi Y Cissé, Jong Shin, Benjamin Stefadu, Jean Personnaz, Sandra Schrötter, Jessica Freed, Angelica D’Amore, Emma R Martin, Catherine L Salussolia*, Mustafa Sahin, Suchithra Menon, Vanessa Byles, Brendan D Manning

Dev Cell

Protein-truncating variants and deletions of SHANK2 are associated with autism spectrum disorder and other neurodevelopmental concerns

Hailey Silver, Rori Greenberg, Paige M Siper, Jessica Zweifach, Renee Soufer, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A Bernstein, Alexander Kolevzon , Dorothy E Grice, Joseph D Buxbaum, Tess Levy

J Neurodev Disord

Prevalence, Characteristics, and Management of Pancreatic Tumors Among Children With Tuberous Sclerosis Complex

Raissa Li, Cecilia Miguel, Jaclyn Schienda, Emine Arcasoy, Junne Kamihara, Jurriaan M Peters, Peter E Davis*, Mustafa Sahin, Brent R Weil

J Pediatr Surg

Epilepsy surgery in Sturge-Weber syndrome with unilateral or bilateral asymmetric brain involvement: Boston Children’s Hospital experience

Michelle Y Chiu, Isabelle Iannotti, Matheus D Soldatelli, Mustafa Sahin, Katrina Boyer, Morgan E Ryan, Bo Zhang, Masanori Takeoka, Joseph R Madsen, Scellig Stone, Sanjay P Prabhu, Anna L Pinto

Epilepsia

Arrayed CRISPR/Cas9 Loss-Of-Function Screen in a Neuronal Model of Adaptor Protein Complex 4 Deficiency Identifies Modulators of ATG9A Trafficking

Marvin Ziegler, Cedric Böger, Julian E Alecu, Hyo-Min Kim, Afshin Saffari, Alexandra K Davies, Mustafa Sahin, Darius Ebrahimi-Fakhari*

BioRxiv [Preprint]

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors

Tyrone DeSpenza Jr, Emre Kiziltug, Garrett Allington, Daniel G Barson, Stephen McGee, David O’Connor, Stephanie M Robert, Kedous Y Mekbib, Pranav Nanda, Ana B W Greenberg, Amrita Singh, Phan Q Duy, Francesca Mandino, Shujuan Zhao, Anna Lynn, Benjamin C Reeves, Arnaud Marlier, Stephanie A Getz, Carol Nelson-Williams, Hermela Shimelis, Lauren K Walsh, Junhui Zhang, Wei Wang, Mackenzi L Prina, Annaliese OuYang, Asan F Abdulkareem, Hannah Smith, John Shohfi, Neel H Mehta, Evan Dennis, Laetitia R Reduron, Jennifer Hong, William Butler, Bob S Carter, Engin Deniz, Evelyn M R Lake, R Todd Constable, Mustafa Sahin, Siddharth Srivastava, Kellen Winden*, Ellen J Hoffman, Marina Carlson, Murat Gunel, Richard P Lifton, Seth L Alper, Sheng Chih Jin, Michael C Crair, Andres Moreno-De-Luca, Bryan W Luikart, Kristopher T Kahle

Nat Neurosci

Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT and mTORC1-site specific changes

D’Amore, A; Sundberg, M*; Lin, R; Lubbers, E T; Winden, K D*; Yu, L; Gawlinska, K; Gawlinski, D; Lopez, S G; Choe, Yongho; Wightman, E V; Liang, Y; Modi, M*; Yuskaitis, C J*; Lee, HHC; Rotenberg, A; Sahin, M

Molecular Psychiatry

Using cortical organoids to understand the pathogenesis of malformations of cortical development

Kellen D Winden*, Isabel Gisser, Mustafa Sahin

Front Neurosci

Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome

Mary-Bronwen L Chalkley, Lindsey N Guerin, Tenhir Iyer, Samantha Mallahan, Sydney Nelson, Mustafa Sahin, Emily Hodges, Kevin C Ess, Rebecca A Ihrie

Hum Mol Genet

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND

Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet, Alexandra Afenjar, Jeanne Amiel, Deborah Bartholdi, Magalie Barth, Eléonore Blondiaux, Ingrid Cristian, Zoe Frazier, Alice Goldenberg, Jean-Marc Good, Catherine Lourdes Salussolia*, Mustafa Sahin, Helen McCullagh, Kimberly McDonald, Anne McRae, Jennifer Morrison, Jason Pinner, Marwan Shinawi, Annick Toutain, Emílie Vyhnálková, Patricia G Wheeler, Yael Wilnai, Moran Hausman-Kedem, Marion Coolen, Vincent Cantagrel, Lydie Burglen, Philippe Lory

Genet Med

Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste*, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Tom Pepper, Kristin Anthony, J Michael Graglia, Kathryn Helde, Christal Delagrammatikas, Sandra Bedrosian-Sermone, Constance Smith-Hicks, Mustafa Sahin, Eric A Youngstrom, Charis Eng, Lacey Chetcuti, Antonio Y Hardan, Mirko Uljarevic

Autism Res

Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders

Yang, Z; Teaney, N; Buttermore, E; Sahin, M; Afshar-Saber, W*

Frontiers in Neuroscience

Accumulated seizure burden predicts neurodevelopmental outcome at 36 months of age in patients with tuberous sclerosis complex

S Katie Z Ihnen, Samuel Alperin, Jamie K Capal, Alexander L Cohen, Jurriaan M Peters, E Martina Bebin, Hope A Northrup, Mustafa Sahin, Darcy A Krueger; TACERN Study Group

Epilepsia

Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Eva Loth, Constance Smith-Hicks, Mustafa Sahin, Antonio Y Hardan, Mirko Uljarevic; NET Development Project Team

Dev Med Child Neurol

Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders

Kellen Winden*, Juan F Ruiz, Mustafa Sahin

Current Opinion in Neurobiology

A Hybrid 2D-to-3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs

Dosh Whye, Erika M Norabuena, Gayathri Rajaram Srinivasan, Delaney Wood, Taryn J Polanco, Nina R Makhortova, Mustafa Sahin, Elizabeth D Buttermore

Curr Protoc

AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth

Yann Cormerais, Samuel C Lapp, Krystle C Kalafut, Madi Y Cissé, Jong Shin, Benjamin Stefadu, Jean Personnaz, Sandra Schrotter, Angelica D’Amore, Emma R Martin, Catherine L Salussolia*, Mustafa Sahin, Suchithra Menon, Vanessa Byles, Brendan D Manning

BioRxiv [Preprint]

Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Siddharth Srivastava*, Jordan J Cole, Julie S Cohen, Maya Chopra, Hadley Stevens Smith, Matthew A Deardorff, Ernest Pedapati, Brian Corner, Julia S Anixt, Shafali Jeste*, Mustafa Sahin, Christina A Gurnett, Colleen A Campbell; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing

Ann Neurol

A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop

Margaret C Savage, Geraldine Bliss, Joseph D Buxbaum, Jordan S Farrell, April R Levin, Siddharth Srivastava*, Elizabeth Berry-Kravis, J Lloyd Holder Jr, Mustafa Sahin

Ther Adv Rare Dis

Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome

Jake Gluckman, Tess Levy, Kate Friedman, Francesca Garces, Rajna Filip-Dhima, Aisling Quinlan, Isabelle Iannotti, Margaret Pekar, Alexandra Lopez Hernandez, Madison T Nava, Elijah Kravets, Abigail Siegel, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Siddharth Srivastava*, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Bruce D Gelb; Developmental Synaptopathies Consortium

Am J Med Genet A

Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial

Laura S Farach, Melissa A Richard, Aynara C Wulsin, Elizabeth M Bebin, Darcy A Krueger, Mustafa Sahin, Brenda E Porter, Tarrant O McPherson, Jurriaan M Peters, Sarah O’Kelley, Katherine S Taub, Rajsekar Rajaraman , Stephanie C Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Gary Cutter, Hope Northrup, Kit Sing Au; PREVeNT Study Group

Pediatr Neurol

AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient

James J Dowling, Terry Pirovolakis, Keshini Devakandan, Ana Stosic, Mia Pidsadny, Elisa Nigro, Mustafa Sahin, Darius Ebrahimi-Fakhari*, Souad Messahel, Ganapathy Varadarajan, Benjamin M Greenberg, Xin Chen, Berge A Minassian, Ronald Cohn, Carsten G Bonnemann, Steven J Gray

Nat Med

Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit

Jacquelyn A Brown, Shannon L Faley, Monika Judge, Patricia Ward, Rebecca A Ihrie, Robert Carson, Laura Armstrong, Mustafa Sahin, John P Wikswo, Kevin C Ess, M Diana Neely

J Neurodev Disord

Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures

Siddharth Srivastava*, Fanghan Yang, Anna K Prohl, Peter E Davis*, Jamie K Capal, Rajna Filip-Dhima, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Bo Zhang; TACERN Study Group

J Child Neurol

Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III

Aristides Hadjinicolaou, Aisling Quinlan, Shanshan Liu, Bo Zhang, Masanori Takeoka, Mustafa Sahin, Sanjay P Prabhu, Anna Lecticia Pinto

Brain Dev

Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome

Tess Levy, Jacob Gluckman, Paige M Siper, Danielle Halpern, Jessica Zweifach, Rajna Filip-Dhima, J Lloyd Holder Jr, M Pilar Trelles, Kristina Johnson*, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Valluripalli Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, Alexander Kolevzon, Siddharth Srivastava*; Developmental Synaptopathies Consortium

J Neurodev Disord

Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls

Wardiya Afshar-Saber*, Cidi Chen, Nicole A Teaney, Kristina Kim, Ziqin Yang, Federico M Gasparoli, Darius Ebrahimi-Fakhari*, Elizabeth D Buttermore, Ivy Pin-Fang Chen, Phillip L Pearl, Mustafa Sahin

Stem Cell Res

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder

Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber*, Henry H C Lee, Mariarita Bertoldi, Gabrielle E McGinty, Melissa L DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K Michael Gibson, Mustafa Sahin, Phillip L Pearl

J Neurodev Disord

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

Exploring the neurological features of individuals with germline PTEN variants: A multicenter study

Andrew Dhawan, Sarah Baitamouni, Darren Liu, Robyn Busch, Patricia Klaas, Thomas W Frazier, Siddharth Srivastava, Sumit Parikh, Gary E Hsich, Neil R Friedman, David M Ritter, Antonio Y Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng

Ann Clin Transl Neurol

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex

Melissa A Richard, Philip J Lupo, Erik A Ehli, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Laura S Farach; TACERN Study Group

Am J Med Genet A

Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs

Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg*, Cidi Chen, Elizabeth D Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W Scherer

Comput Struct Biotechnol J .

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia

Afshin Saffari, Barbara Brechmann, Cedric Böger, Wardiya Afshar Saber*, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian E Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden*, Jed Hubbs, Elizabeth D Buttermore, Lee Barrett, Georg H H Borner, Alexandra K Davies, Darius Ebrahimi-Fakhari*, Mustafa Sahin

Nat Commun

The role of TSC1 and TSC2 proteins in neuronal axons

Vasiliki Karalis*, Delaney Wood, Nicole A Teaney, Mustafa Sahin

Mol Psychiatry

Rodent Models for ASD Biomarker Development

Henry H C Lee, Mustafa Sahin

Adv Neurobiol

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

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations

Wardiya Afshar-Saber*, Nicole A Teaney, Kellen D Winden*, Hellen Jumo, Xutong Shi, Gabrielle McGinty, Jed Hubbs, Cidi Chen, Itay Tokatly Latzer, Federico Gasparoli, Darius Ebrahimi-Fakhari*, Elizabeth D Buttermore, Jean-Baptiste Roullet, Phillip L Pearl, Mustafa Sahin

Neurobiol Dis

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia

Julian E Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D King, Filippo M Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Mov Disord

Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs

Carole Shum, Sang Yeon Han, Bhooma Thiruvahindrapuram, Zhuozhi Wang, Jill de Rijke, Benjamin Zhang, Maria Sundberg*, Cidi Chen, Elizabeth D Buttermore, Nina Makhortova, Jennifer Howe, Mustafa Sahin, Stephen W Scherer

Comput Struct Biotechnol J

International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)

Petrus J de Vries, Tosca-Marie Heunis, Stephanie Vanclooster, Nola Chambers, Stacey Bissell, Anna W Byars, Jennifer Flinn, Tanjala T Gipson, Agnies M van Eeghen, Robert Waltereit, Jamie K Capal, Sebastián Cukier, Peter E Davis*, Catherine Smith, J Chris Kingswood, Eva Schoeters, Shoba Srivastava, Megumi Takei, Sugnet Gardner-Lubbe, Aubrey J Kumm, Darcy A Krueger, Mustafa Sahin, Liesbeth De Waele, Anna C Jansen

J Neurodev Disord

Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial

Elizabeth Martina Bebin, Jurriaan M Peters, Brenda E Porter, Tarrant O McPherson, Sarah O’Kelley, Mustafa Sahin, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M McClintock, Mary Kay Koenig, Mike D Frost, Hope A Northrup, Klaus Werner, Danielle A Nolan, Michael Wong, Jessica L Krefting, Fred Biasini, Kalyani Peri, Gary Cutter, Darcy A Krueger; PREVeNT Study Group

Ann Neurol

Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ)

Tosca-Marie Heunis, Nola Chambers, Stephanie Vanclooster, Stacey Bissell, Anna W Byars, Jamie K Capal, Sebastián Cukier, Peter E Davis*, Magdalena C de Vries, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, J Christopher Kingswood, Darcy A Krueger, Aubrey J Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Agnies M van Eeghen, Robert Waltereit, Anna C Jansen, Petrus J de Vries

Pediatr Neurol

Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor

Sameer C Dhamne, Meera E Modi*, Audrey Gray, Simone Bonazzi, Lucas Craig, Elizabeth Bainbridge, Lahin Lalani, Chloe E Super, Samantha Schaeffer, Ketthsy Capre, Danuta Lubicka, Guiqing Liang, Doug Burdette, Stephanie M McTighe, Sarika Gurnani, Sheryl Anne D Vermudez*, Daniel Curtis, Christopher J Wilson, Mustafa Q Hameed, Angelica D’Amore, Alexander Rotenberg, Mustafa Sahin

Ann Clin Transl Neurol

Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste*, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, J Michael Graglia, Christal G Delagrammatikas, Sandra Bedrosian-Sermone, Constance Smith-Hicks, Katie Huba, Robert Longyear, LeeAnne Green-Snyder, Frederick Shic, Mustafa Sahin, Charis Eng, Antonio Y Hardan, Mirko Uljarević

Am J Med Genet C Semin Med Genet

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex

Kellen D Winden, Truc T Pham*, Nicole A Teaney*, Juan Ruiz*, Ryan Chen, Cidi Chen, Mustafa Sahin

Cell Rep

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia

Julian E Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D King, Filippo M Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Mov Disord

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia

Afshin Saffari, Barbara Brechmann, Cedric Boeger, Wardiya Afshar Saber*, Hellen Jumo, Dosh Whye, Delaney Wood, Lara Wahlster, Julian Alecu, Marvin Ziegler, Marlene Scheffold, Kellen Winden*, Jed Hubbs, Elizabeth Buttermore, Lee Barrett, Georg Borner, Alexandra Davies, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Res Sq [Preprint]

Updated consensus guidelines on the management of Phelan-McDermid syndrome

Siddharth Srivastava, Mustafa Sahin, Joseph D Buxbaum, Elizabeth Berry-Kravis, Latha Valluripalli Soorya, Audrey Thurm, Jonathan A Bernstein, Afua Asante-Otoo, William E Bennett Jr, Catalina Betancur, Tegwyn H Brickhouse, Maria Rita Passos Bueno, Maya Chopra, Celanie K Christensen, Jennifer L Cully, Kira Dies Kate Friedman, Brittany Gummere, J Lloyd Holder Jr, Andres Jimenez-Gomez, Carolyn A Kerins, Omar Khan, Teresa Kohlenberg, Ronald V Lacro, Lori A Levi, Tess Levy, Diane Linnehan, Loth Eva, Baharak Moshiree, Ann Neumeyer, Scott M Paul, Katy Phelan, Antonio Persico, Robert Rapaport, Curtis Rogers, Jeffrey Saland, Swathi Sethuram, Janine Shapiro, Phillip I Tarr, Kerry M White, Jordan Wickstrom, Kent M Williams, Dana Winrow, Brian Wishart, Alexander Kolevzon

Am J Med Genet A

Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex

Banu Ahtam, Hyuk Jin Yun, Rutvi Vyas, Rudolph Pienaar, Josephine H Wilson, Caroline P Goswami, Laura F Berto, Simon K Warfield, Mustafa Sahin, P Ellen Grant, Jurriaan M Peters, Kiho Im

J Autism Dev Disord

Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex

Alexis Levine, Peter Davis*, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu, Mustafa Sahin; TACERN Study Group

Pediatr Neurol

Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes

Thomas W Frazier, Robyn M Busch, Patricia Klaas, Katherine Lachlan, Shafali Jeste*, Alexander Kolevzon, Eva Loth, Jacqueline Harris, Leslie Speer, Tom Pepper, Kristin Anthony, J Michael Graglia, Christal Delagrammatikas, Sandra Bedrosian-Sermone, Jenine Beekhuyzen, Constance Smith-Hicks, Mustafa Sahin, Charis Eng, Antonia Y Hardan, Mirko Uljarević

Am J Med Genet A

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies

Xin Chen, Thomas Dong, Yuhui Hu, Raffaella De Pace, Rafael Mattera, Kathrin Eberhardt, Marvin Ziegler, Terry Pirovolakis, Mustafa Sahin, Juan S Bonifacino, Darius Ebrahimi-Fakhari*, Steven J Gray

J Clin Invest

Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study

Janelle Applequist, Cristina Burroughs, Peter A Merkel, Marc Rothenberg, Bruce Trapnell, Robert Desnick, Mustafa Sahin, Jeffrey Krischer

J Med Internet Res

Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change

Robyn M Busch, Thomas W Frazier Ii, Claire Sonneborn, Olivia Hogue, Patricia Klaas, Siddharth Srivastava*, Antonio Y Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng

J Neurodev Disord

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

Curr Protoc

Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis

Alexander L Cohen, Mallory R Kroeck, Juliana Wall, Peter McManus, Arina Ovchinnikova, Mustafa Sahin, Darcy A Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu, Simon K Warfield, Jurriaan M Peters, Michael D Fox; Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group

Ann Neurol

The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15

Afshin Saffari, Melanie Kellner, Catherine Jordan, Helena Rosengarten, Alisa Mo, Bo Zhang, Oleksandr Strelko, Sonja Neuser, Marie Y Davis, Nobuaki Yoshikura, Naonobu Futamura, Tomoya Takeuchi, Shin Nabatame, Hiroyuki Ishiura, Shoji Tsuji, Huda Shujaa Aldeen, Elisa Cali, Clarissa Rocca, Henry Houlden, Stephanie Efthymiou, Birgit Assmann, Grace Yoon, Bianca A Trombetta, Pia Kivisäkk, Florian Eichler, Haitian Nan, Yoshihisa Takiyama, Alessandra Tessa, Filippo M Santorelli, Mustafa Sahin, Craig Blackstone, Edward Yang, Rebecca Schüle, Darius Ebrahimi-Fakhari*

Brain

Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome

Michael S Breen, Xuanjia Fan, Tess Levy, Rebecca M Pollak, Brett Collins, Aya Osman, Anna S Tocheva, Mustafa Sahin, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M Powell, Jonathan A Bernstein, Alexander Kolevzon, Joseph D Buxbaum; Developmental Synaptopathies Consortium

HGG Adv

Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study

Frederick C Morgan, Lamis Yehia, Christine McDonald, Julian A Martinez-Agosto, Antonio Y Hardan, Joan Tamburro, Mustafa Sahin, Cheryl Bayart, Charis Eng; Developmental Synaptopathies Consortium

J Am Acad Dermatol

Non-canonical functions of a mutant TSC2 protein in mitotic division

Mary-Bronwen L Chalkley, Rachel B Mersfelder, Maria Sundberg*, Laura C Armstrong, Mustafa Sahin, Rebecca A Ihrie, Kevin C Ess

PLoS One

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons

Elizabeth D Buttermore, Nickesha C 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, Joseph Gonzalez-Heydrich

Front Psychiatry

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis

Siddharth Srivastava*, Sara A Lewis, Julie S Cohen, Bo Zhang, Bhooma R Aravamuthan, Maya Chopra, Mustafa Sahin, Michael C Kruer, Annapurna Poduri

Meta-Analysis

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 1 2

Curr Protoc

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

Mol Ther Methods Clin Dev

Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST

Alisa Mo, Afshin Saffari, Melanie Kellner, Marion Döbler-Neumann, Catherine Jordan, Siddharth Srivastava*, Bo Zhang, Mustafa Sahin, John K Fink, Linsley Smith, Jennifer E Posey, Katharine E Alter, Camilo Toro, Craig Blackstone, Ariane G Soldatos, Michelle Christie, Rebecca Schüle, Darius Ebrahimi-Fakhari*

J Dev Biol

Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome

Stephanie A Zlatic, Duc Duong, Kamal K E Gadalla, Brenda Murage, Lingyan Ping, Ruth Shah, James J Fink, Omar Khwaja, Lindsay C Swanson, Mustafa Sahin, Sruti Rayaprolu, Prateek Kumar, Srikant Rangaraju, Adrian Bird, Daniel Tarquinio, Randall Carpenter, Stuart Cobb, Victor Faundez

iScience

DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting

Christopher J Yuskaitis*, Jinita B Modasia, Sandra Schrötter, Leigh-Ana Rossitto, Karenna J Groff, Christopher Morici, Divakar S Mithal, Ram P Chakrabarty, Navdeep S Chandel, Brendan D Manning, Mustafa Sahin

Cell Rep

Newborn screening for neurodevelopmental diseases: Are we there yet?

Wendy K Chung, Jonathan S Berg, Jeffrey R Botkin, Steven E Brenner, Jeffrey P Brosco, Kyle B Brothers, Robert J Currier, Amy Gaviglio, Walter E Kowtoniuk, Colleen Olson , Michele Lloyd-Puryear, Annamarie Saarinen, Mustafa Sahin, Yufeng Shen, Elliott H Sherr, Michael S Watson, Zhanzhi Hu

Am J Med Genet C Semin Med Genet

Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates

Catherine L Salussolia*, Kellen D Winden*, Mustafa Sahin

Bio Protoc

Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis

Julian Emanuel Alecu , Yuhsuke Ohmi, Robiul H Bhuiyan, Kei-Ichiro Inamori, Takahiro Nitta, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Claudio Melo de Gusmao, Nutan Sharma, Shiho Ohno, Noriyoshi Manabe, Yoshiki Yamaguchi, Mariko Kambe, Keiko Furukawa, Mustafa Sahin, Jin-Ichi Inokuchi, Koichi Furakawa, Darius Ebrahimi-Fakhari*

J Dev Biol

Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis

Maaike Nijman, Edward Yang, Camilo Jaimes, Anna K Prohl, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Hope Northrup, Scellig S D Stone, Joseph R Madsen, Aria Fallah, Jeffrey P Blount, Howard L Weiner, Leslie Grayson, E Martina Bebin, Brenda E Porter, Simon K Warfield, Sanjay P Prabhu, Jurriaan M Peters; TACERN Study Group

J Neuroimaging

Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome

Stephen Shovlin, Chloe Delepine, Lindsay Swanson, Snow Bach, Mustafa Sahin, Mriganka Sur, Walter E Kaufmann, Daniela Tropea

Front Neurosci

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; Developmental Synaptopathies Consortium

Hum Mol Genet

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; Gene Therapy Workshop Faculty

Mol Ther

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

J Neurodev Disord

Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)

Tosca-Marie Heunis, Stacey Bissell, Anna W Byars, Jamie K Capal, Nola Chambers, Sebastián Cukier, Peter E Davis*, Liesbeth De Waele, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, J Christopher Kingswood, Darcy A Krueger, Aubrey J Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Stephanie Vanclooster, Agnies M van Eeghen, Robert Waltereit, Anna C Jansen, Petrus J de Vries

Front Psychiatry

AP-4-mediated axonal transport controls endocannabinoid production in neurons

Alexandra K Davies, Julian E Alecu, Marvin Ziegler, Catherine G Vasilopoulou, Fabrizio Merciai, Hellen Jumo, Wardiya Afshar-Saber*, Mustafa Sahin, Darius Ebrahimi-Fakhari*, Georg H H Borner 7

Nat Commun

Single-cell dissection of the human brain vasculature

Francisco J Garcia, Na Sun, Hyeseung Lee, Brianna Godlewski, Hansruedi Mathys, Kyriaki Galani, Blake Zhou, Xueqiao Jiang, Ayesha P Ng, Julio Mantero, Li-Huei Tsai, David A Bennett, Mustafa Sahin, Manolis Kellis, Myriam Heiman

Nature

The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review

Stephanie Vanclooster, Stacey Bissell, Agnies M van Eeghen, Nola Chambers, Liesbeth De Waele, Anna W Byars, Jamie K Capal, Sebastián Cukier, Peter Davis*, Jennifer Flinn, Sugnet Gardner-Lubbe, Tanjala Gipson, Tosca-Marie Heunis, Dena Hook, J Christopher Kingswood, Darcy A Krueger, Aubrey J Kumm, Mustafa Sahin, Eva Schoeters, Catherine Smith, Shoba Srivastava, Megumi Takei, Robert Waltereit, Anna C Jansen, Petrus J de Vries 

J Neurodev Disord

Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study

Frederick C Morgan, Lamis Yehia, Christine McDonald, Julian A Martinez-Agosto, Antonio Y Hardan, Joan Tamburro, Mustafa Sahin, Cheryl Bayart, Charis Eng; Developmental Synaptopathies Consortium

J Am Acad Dermatol

Mendelian etiologies identified with whole exome sequencing in cerebral palsy

Maya Chopra, Dustin L Gable, Jamie Love-Nichols, Alexa Tsao, Shira Rockowitz, Piotr Sliz, Elizabeth Barkoudah, Lucia Bastianelli, David Coulter, Emily Davidson, Claudio DeGusmao, David Fogelman, Kathleen Huth, Paige Marshall, Donna Nimec, Jessica Solomon Sanders, Benjamin J Shore, Brian Snyder, Scellig S D Stone, Ana Ubeda, Colyn Watkins, Charles Berde, Jeffrey Bolton, Catherine Brownstein, Michael Costigan, Darius Ebrahimi-Fakhari*, Abbe Lai, Anne O’Donnell-Luria, Alex R Paciorkowski, Anna Pinto, John Pugh, Lance Rodan, Eugene Roe, Lindsay Swanson, Bo Zhang, Michael C Kruer, Mustafa Sahin, Annapurna Poduri 8, Siddharth Srivastava*

Ann Clin Transl Neurol

Neurodevelopmental profile of HIVEP2-related disorder

Alisa Mo, Leeanne G Snyder, Owen Babington, Wendy K Chung, Mustafa Sahin, Siddharth Srivastava*

Dev Med Child Neurol

Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels

Lan Huang, Colette Bichsel, Alexis L Norris, Jeremy Thorpe, Jonathan Pevsner, Sanda Alexandrescu, Anna Pinto, David Zurakowski, Robin J Kleiman, Mustafa Sahin, Arin K Greene, Joyce Bischoff

Arterioscler Thromb Vasc Biol

Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder

Alessia Di Nardo*, Alina Rühmkorf, Patricia Award, Ashton Brennecke, Michela Fagiolini, Mustafa Sahin

Neurosci Res

Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium

Tess Levy, Jennifer H Foss-Feig, Catalina Betancur, Paige M Siper, Maria Del Pilar Trelles-Thorne, Danielle Halpern, Yitzchak Frank, Reymundo Lozano, Christina Layton, Bari Britvan, Jonathan A Bernstein, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Siddharth Srivastava*, Mustafa Sahin, Latha Soorya, Audrey Thurm, Alexander Kolevzon; Developmental Synaptopathies Consortium

Hum Mol Genet

Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations

Mirko Uljarević, Thomas W Frazier, Gaëlle Rached, Robyn M Busch, Patricia Klaas, Siddharth Srivastava*, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng, Antonio Y Hardan; Developmental Synaptopathies Consortium

J Autism Dev Disord

Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies

Vasiliki Karalis*, Kathleen E Donovan*, Mustafa Sahin

J Dev Biol

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis

Julian E Alecu, Afshin Saffari, Hellen Jumo, Marvin Ziegler, Oleksandr Strelko, Catherine A Brownstein, Joseph Gonzalez-Heydrich, Lance H Rodan, Mark P Gorman, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Ann Clin Transl Neurol

Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome

Siddharth Srivastava*, Emma Condy, Erin Carmody, Rajna Filip-Dhima, Kush Kapur, Jonathan A Bernstein, Elizabeth Berry-Kravis, Craig M Powell, Latha Soorya, Audrey Thurm, Joseph D Buxbaum, Mustafa Sahin, A Lexander Kolevzon; Developmental Synaptopathies Consortium

J Neurodev Disord

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Livia O Loureiro, Jennifer L Howe, Miriam S Reuter, Alana Iaboni, Kristina Calli, Delnaz Roshandel, Iva Pritišanac, Alan Moses, Julie D Forman-Kay, Brett Trost, Mehdi Zarrei, Olivia Rennie, Lynette Y S Lau, Christian R Marshall, Siddharth Srivastava*, Brianna Godlewski, Elizabeth D Buttermore, Mustafa Sahin, Dean Hartley, Thomas Frazier, Jacob Vorstman, Stelios Georgiades, Suzanne M E Lewis, Peter Szatmari, Clarrisa A Lisa Bradley, Anne-Claude Tabet, Marjolaine Willems, Serge Lumbroso, Amélie Piton, James Lespinasse, Richard Delorme, Thomas Bourgeron, Evdokia Anagnostou, Stephen W Scherer

NPJ Genom Med

High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia

Darius Ebrahimi-Fakhari* Julian E Alecu, Barbara Brechmann, Marvin Ziegler, Kathrin Eberhardt, Hellen Jumo, Angelica D’Amore, Parham Habibzadeh, Mohammad Ali Faghihi, Jan L De Bleecker, Sandrine Vuillaumier-Barrot, Stéphane Auvin, Filippo M Santorelli, Sonja Neuser, Bernt Popp, Edward Yang, Lee Barrett, Alexandra K Davies, Afshin Saffari, Jennifer Hirst, Mustafa Sahin

Brain Commun

Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)

Petrus J de Vries, Loren Leclezio, Sugnet Gardner-Lubbe, Darcy Krueger, Mustafa Sahin, Steven Sparagana, Liesbeth De Waele, Anna Jansen

Orphanet J Rare Dis

Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study

Jamie K Capal, Marian E Williams, Deborah A Pearson, Robin Kissinger, Paul S Horn, Donna Murray, Kristn Currans, Bridget Kent, Martina Bebin, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Darcy A Krueger; TACERN Study Group

Ann Neurol

Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia

Darius Ebrahimi-Fakhari*, Julian E Alecu, Marvin Ziegler, Gregory Geisel, Catherine Jordan, Angelica D’Amore, Rebecca C Yeh, Shyam K Akula, Afshin Saffari, Sanjay P Prabhu, Mustafa Sahin, Edward Yang; International AP-4-HSP Registry and Natural History Study

Neurology

Psychiatric Characteristics Across Individuals With PTEN Mutations

Morgan Steele, Mirko Uljarević, Gaëlle Rached, Thomas W Frazier, Jennifer M Phillips, Robin A Libove, Robyn M Busch, Patricia Klaas, Julian A Martinez-Agosto, Siddharth Srivastava*, Charis Eng, Mustafa Sahin, Antonio Y Hardan

Front Psychiatry

Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations

Mirko Uljarević, Thomas W Frazier, Gaëlle Rached, Robyn M Busch, Patricia Klaas, Siddharth Srivastava*, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng, Antonio Y Hardan; Developmental Synaptopathies Consortium

Am J Med Genet A

Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex

S Katie Z Ihnen, Jamie K Capal, Paul S Horn, Molly Griffith, Mustafa Sahin, E Martina Bebin, Joyce Y Wu, Hope Northrup, Darcy A Krueger; TACERN study group

Pediatr Neurol

Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report

Jennifer Cable, Ryan H Purcell, Elise Robinson, Jacob A S Vorstman, Wendy K Chung, John N Constantino, Stephan J Sanders, Mustafa Sahin, Ricardo E Dolmetsch, Bina Maniar Shah, Audrey Thurm, Christa L Martin, Carrie E Bearden, Jennifer G Mulle

Ann N Y Acad Sci

Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia

Catherine Jordan, Gregory Geisel, Julian E Alecu, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari*

J Neurol Genet

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

Jasbir Singh Dalal*, Kellen Diamond Winden*, Catherine Lourdes Salussolia*, Maria Sundberg*, Achint Singh 1, Truc Thanh Pham, Pingzhu Zhou, William T Pu, Meghan T Miller, Mustafa Sahin

Elife

Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review

Christopher J Yuskaitis*, Leigh-Ana Rossitto, Karenna J Groff, Sameer C Dhamne, Bo Zhang, Lahin K Lalani, Achint K Singh, Alexander Rotenberg, Mustafa Sahin

Ann Clin Transl Neurol

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50)

Kathrin Eberhardt, Hellen Jumo, Angelica D’Amore, Julian E Alecu, Marvin Ziegler, Wardiya Afshar Saber*, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Stem Cell Res

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro

Maria Sundberg*, Hannah Pinson, Richard S Smith, Kellen D Winden*, Pooja Venugopal, Derek J C Tai James F Gusella, Michael E Talkowski, Christopher A Walsh, Max Tegmark, Mustafa Sahin

Nat Commun

Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome

Michael G Mariscal, Elizabeth Berry-Kravis, Joseph D Buxbaum, Lauren E Ethridge, Rajna Filip-Dhima, Jennifer H Foss-Feig, Alexander Kolevzon, Meera E Modi*, Matthew W Mosconi, Charles A Nelson, Craig M Powell, Paige M Siper, Latha Soorya, Andrew Thaliath, Audrey Thurm, Bo Zhang, Mustafa Sahin, April R Levin; Developmental Synaptopathies Consortium

Mol Autism

Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders

Nickesha C Anderson*, Pin-Fang Chen, Kesavan Meganathan 2, Wardiya Afshar Saber*, Andrew J Petersen, Anita Bhattacharyya, Kristen L Kroll, Mustafa Sahin; Cross-IDDRC Human Stem Cell Working Group

Stem Cell Reports

Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)

Pin-Fang Chen, Teresa Chen, Taylor E Forman, Amanda C Swanson, Benjamin O’Kelly, Sean A Dwyer, Elizabeth D Buttermore, Robin Kleiman, Sheridan Js Carrington, Daniel J Lavery, Lindsay C Swanson, Heather E Olson, Mustafa Sahin

Stem Cell Res

A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations

Antonio Y Hardan, Booil Jo, Thomas W Frazier, Patricia Klaas, Robyn M Busch, Kira A Dies, Rajna Filip-Dhima, Anne V Snow, Charis Eng, Rabi Hanna, Bo Zhang, Mustafa Sahin

Contemp Clin Trials Commun

Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism

Thomas W Frazier, Ritika Jaini, Robyn M Busch, Matthew Wolf, Tammy Sadler, Patricia Klaas, Antonio Y Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng; Developmental Synaptopathies Consortium

Mol Autism

Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network

Alexander L Cohen, Brechtje P F Mulder, Anna K Prohl, Louis Soussand, Peter Davis*, Mallory R Kroeck, Peter McManus, Ali Gholipour, Benoit Scherrer, E Martina Bebin, Joyce Y Wu, Hope Northrup, Darcy A Krueger, Mustafa Sahin, Simon K Warfield, Michael D Fox, Jurriaan M Peters; Tuberous Sclerosis Complex Autism Center of Excellence Network Study Group

Ann Neurol

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile

Krinio Giannikou, Zachary Zhu, Jaegil Kim, Kellen D Winden*, Magdalena E Tyburczy, David Marron, Joel S Parker, Zachary Hebert, Anika Bongaarts, Len Taing, Henry W Long, William V Pisano, Sanda Alexandrescu, Brianna Godlewski, Mark Nellist, Katarzyna Kotulska, Sergiusz Jozwiak, Marcin Roszkowski, Marek Mandera, Elizabeth A Thiele, Hart Lidov, Gad Getz, Orrin Devinsky, Michael S Lawrence, Keith L Ligon, David W Ellison, Mustafa Sahin, Eleonora Aronica, David M Meredith, David J Kwiatkowski

Mod Pathol

Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities

Leonard Abbeduto, Mustafa Sahin

J Neurodev Disord

Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex

Laura S Farach, Melissa A Richard, Philip J Lupo, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup; TACERN Study Group

Pediatr Neurol

Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia

Alessia Di Nardo*, Isadora Lenoël, Kellen D Winden*, Alina Rühmkorf,  Meera E Modi*, Lee Barrett, Ebru Ercan-Herbst*, Pooja Venugopal, Robert Behne, Carla A M Lopes, Robin J Kleiman, Mónica Bettencourt-Dias, Mustafa Sahin

Cell Rep

Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons

Maria Sundberg*, Mustafa Sahin

Adv Neurobiol

Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex

Leslie E Grayson, Jurriaan M Peters, Tarrant McPherson, Darcy A Krueger, Mustafa Sahin, Joyce Y Wu, Hope A Northrup, Brenda Porter, Gary R Cutter, Sarah E O’Kelley, Jessica Krefting, Scellig S Stone, Joseph R Madsen, Aria Fallah, Jeffrey P Blount, Howard L Weiner, E Martina Bebin; TACERN Study Group

Pediatr Neurol

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome

Kellie Gergoudis, Alan Weinberg, Jonathan Templin, Cristan Farmer, Alison Durkin, Jordana Weissman, Paige Siper, Jennifer Foss-Feig, Maria Del Pilar Trelles, Jonathan A Bernstein, Joseph D Buxbaum, Elizabeth Berry-Kravis, Craig M Powell, Mustafa Sahin, Latha Soorya, Audrey Thurm, Alexander Kolevzon; Developmental Synaptopathies Consortium

Autism Res

Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder?

Meera E Modi*, Mustafa Sahin

Neuron

Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex

Iván Sánchez Fernández, Edward Yang, Paola Calvachi, Marta Amengual-Gual, Joyce Y Wu, Darcy Krueger, Hope Northrup, Martina E Bebin, Mustafa Sahin, Kun-Hsing Yu, Jurriaan M Peters; TACERN Study Group

PLoS One

Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex

Amanda M O’Brien, Laurie Bayet, Katherine Riley, Charles A Nelson, Mustafa Sahin, Meera E Modi*

Front Integr Neurosci

Tuberous sclerosis: a review of the past, present, and future

Sanem Pinar Uysal, Mustafa Şahin

Turk J Med Sci

Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52

Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi-Fakhari*, Filippo M Santorelli

Ann Clin Transl Neurol

A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment

Janelle Applequist, Cristina Burroughs, Artemio Ramirez Jr, Peter A Merkel, Marc E Rothenberg, Bruce Trapnell, Robert J Desnick, Mustafa Sahin, Jeffrey P Krischer

BMC Med Res Methodol

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

Julia Bassell, Siddharth Srivastava*, Anna K Prohl, Benoit Scherrer, Kush Kapur, Rajna Filip-Dhima, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M Powell, Jonathan A Bernstein, Joseph D Buxbaum, Alexander Kolevzon, Simon K Warfield, Mustafa Sahin; Developmental Synaptopathies Consortium

Pediatr Neurol

Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5

Andrew Kodani, Connor Kenny, Abbe Lai, Dilenny M Gonzalez, Edward Stronge*, Gabrielle M Sejourne, Laura Isacco, Jennifer N Partlow, Anne O’Donnell, Kirsty McWalter, Alicia B Byrne, A James Barkovich, Edward Yang, R Sean Hill, Pawel Gawlinski, Wojciech Wiszniewski, Julie S Cohen, S Ali Fatemi, Kristin W Baranano, Mustafa Sahin, David G Vossler, Christopher J Yuskaitis*, Christopher A Walsh

Neuron

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

Wardiya Afshar Saber*, Mustafa Sahin

Mol Autism

Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking

Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K Davies, Joseph M Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabeth D Buttermore, Lee Barrett, Sean Dwyer, Teresa Chen, Jennifer Hirst, Antje Wiesener, Devorah Segal, Andrea Martinuzzi, Sofia T Duarte, James T Bennett, Thomas Bourinaris, Henry Houlden, Agathe Roubertie, Filippo M Santorelli, Margaret Robinson, Mimoun Azzouz, Jonathan O Lipton*, Georg H H Borner, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Hum Mol Genet

Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex

Alexandra Schoenberger, Jamie K Capal, Annie Ondracek, Paul S Horn, Donna Murray, Anna Weber Byars, Deborah A Pearson, Marian E Williams, Martina Bebin, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Darcy A Krueger 3

Epilepsy Behav

The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex

Benoit Scherrer, Anna K Prohl, Maxime Taquet, Kush Kapur, Jurriaan M Peters, Xavier Tomas-Fernandez, Peter E Davis*, Elizabeth M Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Simon K Warfield

Cereb Cortex

EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex

Ian A Cook, Andrew C Wilson, Jurriaan M Peters, Monisha N Goyal, E Martina Bebin, Hope Northrup, Darcy Krueger, Andrew F Leuchter, Mustafa Sahin; TACERN Study Group

J Autism Dev Disord

Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex

Jurriaan M Peters, Damon E Hyde, Catherine J Chu, Merel Boom, Benoit Scherrer, Joseph R Madsen, Scellig S Stone, Hakim Ouaalam, Sanjay P Prabhu, Mustafa Sahin, Simon K Warfield

J Clin Neurophysiol

A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons

Alessia Di Nardo*, Sara Vasquez, Mustafa Sahin

STAR Protoc

Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder

Anna K Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Peter E Davis*, Rajna Filip-Dhima, Sanjay P Prabhu, Jurriaan M Peters, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Simon K Warfield; TACERN Study Group

J Neurodev Disord

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

Joyce Y Wu, Monisha Goyal, Jurriaan M Peters, Darcy Krueger, Mustafa Sahin, Hope Northrup, Kit S Au, Sarah O’Kelley, Marian Williams, Deborah A Pearson, Ellen Hanson, Anna W Byars, Jessica Krefting, Mark Beasley, Gary Cutter, Nita Limdi, E Martina Bebin

Epilepsia

Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN

Robyn M Busch, Siddharth Srivastava* Olivia Hogue Thomas W Frazier, Patricia Klaas, Antonio Hardan, Julian A Martinez-Agosto, Mustafa Sahin, Charis Eng; Developmental Synaptopathies Consortium

Transl Psychiatry

A framework for the investigation of rare genetic disorders in neuropsychiatry

Stephan J Sanders, Mustafa Sahin, Joseph Hostyk, Audrey Thurm, Sebastien Jacquemont, Paul Avillach, Elise Douar5, Christa L Martin, Meera E Modi*, Andres Moreno-De-Luca, Armin Raznahan, Alan Anticevic, Ricardo Dolmetsch, Guoping Feng, Daniel H Geschwind, David C Glahn, David B Goldstein, David H Ledbetter, Jennifer G Mulle, Sergiu P Pasca, Rodney Samaco, Jonathan Sebat, Anne Pariser, Thomas Lehner, Raquel E Gur, Carrie E Bearden

Nat Med

Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)

Julian Teinert, Robert Behne, Angelica D’Amore, Miriam Wimmer, Sean Dwyer, Teresa Chen, Elizabeth D Buttermore, Ivy Pin-Fang Chen, Mustafa Sahin, Darius Ebrahimi-Fakhari*

Stem Cell Res

Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex

Abigail Dickinson, Kandice J Varcin, Mustafa Sahin, Charles A Nelson 3rd, Shafali S Jeste*

Autism Res

Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study

Anna K Prohl, Benoit Scherrer, Xavier Tomas-Fernandez, Rajna Filip-Dhima, Kush Kapur, Clemente Velasco-Annis, Sean Clancy, Erin Carmody, Meghan Dean, Molly Valle, Sanjay P Prabhu, Jurriaan M Peters, E Martina Bebin, Darcy A Krueger, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Simon K Warfield

Front Integr Neurosci

White matter mean diffusivity correlates with myelination in tuberous sclerosis complex

Jurriaan M Peters, Robbert R Struyven, Anna K Prohl, Lana Vasung, Andrija Stajduhar, Maxime Taquet, John J Bushman, Hart Lidov, Jolene M Singh, Benoit Scherrer, Joseph R Madsen, Sanjay P Prabhu, Mustafa Sahin, Onur Afacan, Simon K Warfield

Ann Clin Transl Neurol

Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex

Banu Ahtam, Mathieu Dehaes, Danielle D Sliva, Jurriaan M Peters, Darcy A Krueger, Elizabeth Martina Bebin, Hope Northrup, Joyce Y Wu, Simon K Warfield, Mustafa Sahin, Patricia Ellen Grant; TACERN Study Group

J Neuroimaging

Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex

Peter E Davis*, Kush Kapur, Rajna Filip-Dhima, Sara K Trowbridge, Elaina Little, Andrew Wilson, Andrew Leuchter, Elizabeth M Bebin, Darcy Krueger, Hope Northrup, Joyce Y Wu, Mustafa Sahin, Jurriaan M Peters; Tuberous Sclerosis Autism Centers of Excellence Research Network

Epilepsia

Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

Christopher J Yuskaitis*, Leigh-Ana Rossitto, Sarika Gurnani, Elizabeth Bainbridge, Annapurna Poduri, Mustafa Sahin

Hum Mol Genet

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

Catherine L Salussolia*, Katarzyna Klonowska, David J Kwiatkowski, Mustafa Sahin

Annu Rev Genomics Hum Genet

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

Laura S Farach, Deborah A Pearson, John P Woodhouse, Jeremy M Schraw, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Philip J Lupo, Kit Sing Au, Hope Northrup; TACERN Study Group

Pediatr Neurol

Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration

Marian E Williams, Deborah A Pearson, Jamie K Capal, Anna W Byars, Donna S Murray, Robin Kissinger, Sarah E O’Kelley, Ellen Hanson, Nicole M Bing, Bridget Kent, Joyce Y Wu, Hope Northrup, E Martina Bebin, Mustafa Sahin, Darcy Krueger; TACERN Study Group

Am Psychol

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

Siddharth Srivastava*, Benoit Scherrer, Anna K Prohl, Rajna Filip-Dhima, Kush Kapur, Alexander Kolevzon, Joseph D Buxbaum, Elizabeth Berry-Kravis, Latha Soorya, Audrey Thurm, Craig M Powell, Jonathan A Bernstein, Simon K Warfield, Mustafa Sahin; Developmental Synaptopathies Consortium

Pediatr Neurol

Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex

Jurriaan M Peters, Anna Prohl, Kush Kapur, Audrey Nath, Benoit Scherrer, Sean Clancy, Sanjay P Prabhu, Mustafa Sahin, David Neal Franz, Simon K Warfield, Darcy A Krueger

Pediatr Neurol

Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition

Bahram Marami, Benoit Scherrer, Shadab Khan, Onur Afacan, Sanjay P Prabhu, Mustafa Sahin, Simon K Warfield, Ali Gholipour

Magn Reson Med

Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms

Kristina Jülich, Ilana Neuberger, Mustafa Sahin, Masanori Takeoka, Anna Pinto, Sanjay P Prabhu

J Child Neurol

Probing Mechanical Properties of Brain in a Tuberous Sclerosis Model of Autism

Bo Qing, Elizabeth P Canovic, Aleksandar S Mijailovic, Anna Jagielska, Matthew J Whitfield, Alexis L Lowe, Elyza H Kelly, Daria Turner, Mustafa Sahin, Krystyn J Van Vliet

J Biomech Eng

A unified circuit for social behavior

Meera E Modi*, Mustafa Sahin

Neurobiol Learn Mem

The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex

Anne-Elise C de Groen, Jeffrey Bolton, Ann Marie Bergin, Mustafa Sahin, Jurriaan M Peters

J Child Neurol

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons

Kellen D Winden*, Maria Sundberg*, Cindy Yang, Syed M A Wafa, Sean Dwyer, Pin-Fang Chen, Elizabeth D Buttermore, Mustafa Sahin

J Neurosci

Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram

Krit Charupanit, Michael D Nunez, Danilo Bernardo, Martina Bebin, Darcy A Krueger, Hope Northrup, Mustafa Sahin, Joyce Y Wu, Beth A Lopour

Annu Int Conf IEEE Eng Med Biol Soc

Electrographic spikes are common in wildtype mice

Hannah Purtell, Sameer C Dhamne, Sarika Gurnani, Elizabeth Bainbridge, Meera E Modi*, Stephen H T Lammers, Chloe E Super, Mustafa Q Hameed, Ervin L Johnson 3rd, Mustafa Sahin, Alexander Rotenberg

Epilepsy Behav

Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex

Kun-Hsing Yu, Oren Miron, Nathan Palmer, Dario R Lemos, Kathe Fox, S C Kou, Mustafa Sahin, Isaac S Kohane

Neurology

High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex

Shaun A Hussain, Ernst Schmid, Jurriaan M Peters, Monisha Goyal, E Martina Bebin, Hope Northrup, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu; Tuberous Sclerosis Complex Autism Center of Excellence Network

Epilepsy Res

The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders

Meera E Modi*, Mustafa Sahin

Clin Pharmacol Ther

The mouse as a model for neuropsychiatric drug development

James R Howe 6th, Mark F Bear, Peyman Golshani, Eric Klann, Stuart A Lipton, Lennart Mucke, Mustafa Sahin, Alcino J Silva

Curr Biol

Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors

Peter T Tsai*, Stephanie Rudolph, Chong Guo, Jacob Ellegood, Jennifer M Gibson, Samantha M Schaeffer, Jazmin Mogavero, Jason P Lerch, Wade Regehr, Mustafa Sahin

Cell Rep

Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex

Fiona M Baumer, Jurriaan M Peters, Sean Clancy, Anna K Prohl, Sanjay P Prabhu, Benoit Scherrer, Floor E Jansen, Kees P J Braun, Mustafa Sahin, Aymeric Stamm, Simon K Warfield

Cereb Cortex

Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy

Inês do Carmo G Gonçalves, Johanna Brecht, Maximilian P Thelen, Wiebke A Rehorst, Miriam Peters, Hyun Ju Lee, Susanne Motameny, Laura Torres-Benito, Darius Ebrahimi-Fakhari*, Natalia L Kononenko, Janine Altmüller, David Vilchez, Mustafa Sahin, Brunhilde Wirth, Min Jeong Kye*

Sci Rep

Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome

Anna L R Pinto, Yangming Ou, Mustafa Sahin, P Ellen Grant

Pediatr Neurol

Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex

Emma A van der Poest Clement, Mustafa Sahin, Jurriaan M Peters

J Child Neurol

Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex

Danilo Bernardo, Hiroki Nariai, Shaun A Hussain, Raman Sankar, Noriko Salamon, Darcy A Krueger, Mustafa Sahin, Hope Northrup, E Martina Bebin, Joyce Y Wu; UCLA Pediatric Epilepsy Group; TACERN Study Group

Clin Neurophysiol

Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex

Siddharth Srivastava*, Anna K Prohl, Benoit Scherrer, Kush Kapur, Darcy A Krueger, Simon K Warfield, Mustafa Sahin; TACERN Study Group

Neurology

Abnormal mTOR Activation in Autism

Kellen D Winden*, Darius Ebrahimi-Fakhari*, Mustafa Sahin

Annu Rev Neurosci

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin

Maria Sundberg*, Ivan Tochitsky, David E Buchholz, Kellen Winden*, Ville Kujala, Kush Kapur, Deniz Cataltepe, Daria Turner, Min-Joon Han, Clifford J Woolf, Mary E Hatten, Mustafa Sahin

Mol Psychiatry

A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

Christopher J Yuskaitis*, Brandon M Jones, Rachel L Wolfson, Chloe E Super, Sameer C Dhamne, Alexander Rotenberg, David M Sabatini, Mustafa Sahin, Annapurna Poduri

Neurobiol Dis

mTOR’ing across the Cortex by Chopping the Cilia

Alessia Di Nardo*, Mustafa Sahin

Neuron

mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex

Elyza Kelly, Samantha M Schaeffer, Sameer C Dhamne, Jonathan O Lipton*, Lothar Lindemann, Michael Honer, Georg Jaeschke, Chloe E Super, Stephen Ht Lammers, Meera E Modi*, Jill L Silverman, John R Dreier, David J Kwiatkowski, Alexander Rotenberg, Mustafa Sahin

Neuropsychopharmacology

Clinical and genetic characterization of AP4B1-associated SPG47

Darius Ebrahimi-Fakhari*, Chi Cheng, Kira Dies, Amelia Diplock, Danielle B Pier, Conor S Ryan, Brendan C Lanpher, Jennifer Hirst, Wendy K Chung, Mustafa Sahin, Elisabeth Rosser, Basil Darras, James T Bennett; CureSPG47

Am J Med Genet A

Discovering translational biomarkers in neurodevelopmental disorders

Mustafa Sahin, Stephanie R Jones, John A Sweeney, Elizabeth Berry-Kravis, Barry W Connors, Joshua B Ewen, Adam L Hartman, April R Levin, William Z Potter, Laura A Mamounas

Nat Rev Drug Discov