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Author Details

Mustafa Sahin
Harvard Medical School
1990
273
61
PMIDPaper TitleJournal TitlePublished Year
36315648The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.Brain2023
37598571Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ).Pediatr Neurol2023
37482941Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia.Mov Disord2023
37792789Non-canonical functions of a mutant TSC2 protein in mitotic division.PLoS One2023
37545094Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor.Ann Clin Transl Neurol2023
37534867Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes.Am J Med Genet C Semin Med Genet2023
37494191Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex.Cell Rep2023
37638552Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.Ann Neurol2023
37222965Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex.J Autism Dev Disord2023
37392087Updated consensus guidelines on the management of Phelan-McDermid syndrome.Am J Med Genet A2023
36951961Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.J Clin Invest2023
37119787Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.Pediatr Neurol2023
37045800Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes.Am J Med Genet A2023
37398196High-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.Res Sq2023
36641436Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change.J Neurodev Disord2023
36633423A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells.Curr Protoc2023
34624412Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder.Neurosci Res2022
35775650Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.Am J Med Genet A2022
35585789Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders.Mol Ther2022
35584673The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth.Cell Rep2022
35800463Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates.Bio Protoc2022
35838066Newborn screening for neurodevelopmental diseases: Are we there yet?Am J Med Genet C Semin Med Genet2022
35729081Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.J Neuroimaging2022
35594551A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome.Hum Mol Genet2022
3640591816p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.Front Psychiatry2022
36547476Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies.J Dev Biol2022
36044864DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting.Cell Rep2022
36279113Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis.JAMA Neurol2022
36103453Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.Mov Disord2022
36264199Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities.Curr Protoc2022
36156879GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy.Mol Ther Methods Clin Dev2022
35076175Mendelian etiologies identified with whole exome sequencing in cerebral palsy.Ann Clin Transl Neurol2022
35158371Single-cell dissection of the human brain vasculature.Nature2022
35217685AP-4-mediated axonal transport controls endocannabinoid production in neurons.Nat Commun2022
35151277The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review.J Neurodev Disord2022
35246185Improving clinical trial readiness to accelerate development of new therapeutics for Rett syndrome.Orphanet J Rare Dis2022
35297214Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis.Ann Clin Transl Neurol2022
35295772Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem).Front Psychiatry2022
35321655Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers.J Neurodev Disord2022
34559195Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium.Hum Mol Genet2022
34704275Neurodevelopmental profile of HIVEP2-related disorder.Dev Med Child Neurol2022
34670408Endothelial <i>GNAQ</i> p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels.Arterioscler Thromb Vasc Biol2022
33410532Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.Ann Neurol2021
33910615Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome.Mol Autism2021
33714067Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD).Stem Cell Res2021
33644493A randomized double-blind controlled trial of everolimus in individuals with <i>PTEN</i> mutations: Study design and statistical considerations.Contemp Clin Trials Commun2021
33861989Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders.Stem Cell Reports2021
34668231Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.Ann Neurol2021
34729478High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia.Brain Commun2021
34489750Psychiatric Characteristics Across Individuals With <i>PTEN</i> Mutations.Front Psychiatry2021
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Collaborators

Simon K Warfield
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Sanjay P Prabhu
Co-authored papers 21
Elizabeth Martina Bebin
University of Alabama at Birmingham
Co-authored papers 19
Kush Kapur
Boston Children's Hospital, Harvard Medical School
Co-authored papers 12
Charles A Nelson
Harvard Medical School
Co-authored papers 11
Alexander Kolevzon
Co-authored papers 10
Elizabeth D Buttermore
Boston Children's Hospital
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Joseph D Buxbaum
Icahn School of Medicine at Mount Sinai
Co-authored papers 8
Christopher A Walsh
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Co-authored papers 7
Anna C Jansen
Vrije Universiteit Brussel
Co-authored papers 6
Mary H Wertz
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Stanford University
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Patricia Ellen Grant
Boston Children's Hospital, Harvard Medical School
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Autism and Developmental Medicine Institute
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Susan Hockfield
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Daniel H Geschwind
University of California los angeles
Co-authored papers 4
Paul L Greer
Co-authored papers 4
James J Riviello
Baylor College of Medicine
Co-authored papers 3
David H Ledbetter
University of Florida, College of Medicine-Jacksonville
Co-authored papers 3
Jennifer N Partlow
Boston Children's Hospital
Co-authored papers 3
Sanda Alexandrescu
Co-authored papers 3
Hart G W Lidov
Co-authored papers 3
David T Miller
Boston Children's Hospital
Co-authored papers 3
Susanne Motameny
University of Cologne
Co-authored papers 3
James F Gusella
Co-authored papers 3
Catherine A Brownstein
Harvard Medical School.
Co-authored papers 3
Release 1.2