Mustafa Sahin, MD, PhD
Education
Medical School
Yale Medical School, 1995
New Haven, CT
Internship
Children's Hospital, 1995-1996
Philadelphia, PA
Residency
Children's Hospital, 1996-1997
Philadelphia, PA
Residency
Boston Children's Hospital, 1997-2000
Boston, MA
Related Publications
- Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin
- Abnormal mTOR Activation in Autism
- Clinical and genetic characterization of AP4B1-associated SPG47
- mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex
- Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex
- A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility
- Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors
- mTOR'ing across the Cortex by Chopping the Cilia
- The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders
- A unified circuit for social behavior
- Electrographic spikes are common in wildtype mice
- Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome
- Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex
- Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex
- Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex
- Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice
- Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47)
- Biallelic mutations in TSC2 lead to abnormalities associated with cortical tubers in human iPSC-derived neurons
- Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN
- Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex
- Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex With Stem Cell Derived Neural Precursors and Neurons
- Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
- 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro
- High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
- Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia
- Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
- Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
- Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders
- Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission
- Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder
- Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia
- Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome
- Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network
- Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders
- Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review
- Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts
- Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
- Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome
- Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex
- Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex
- Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
- Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy
- Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome
- Recurrence quantification analysis of resting state EEG signals in autism spectrum disorder - a systematic methodological exploration of technical and demographic confounders in the search for biomarkers
- Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex
- Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex
- High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex
- The mouse as a model for neuropsychiatric drug development
- Discovering translational biomarkers in neurodevelopmental disorders
- Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms
- Longitudinal effects of everolimus on white matter diffusion in Tuberous Sclerosis Complex
- Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition
- Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration
- Tuberous Sclerosis Complex Genotypes and Developmental Phenotype
- White matter mean diffusivity correlates with myelination in tuberous sclerosis complex
- The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex
- Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex
- Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study
- Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex
- Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study
- A framework for the investigation of rare genetic disorders in neuropsychiatry
- The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex
- EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex
- Learning to Detect Brain Lesions from Noisy Annotations
- Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5
- Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome
- Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex
- Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome
- A novel approach to conducting clinical trials in the community setting: utilizing patient-driven platforms and social media to drive web-based patient recruitment
- Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex
- Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex
- A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons
- The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities
- Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism
- Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations
- A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations
- Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD)
- Generation and Characterization of Six Human Induced Pluripotent Stem Cell Lines (iPSC) From Three Families with AP4M1-associated Hereditary Spastic Paraplegia (SPG50)
- Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile
- Psychiatric Characteristics Across Individuals With PTEN Mutations
- Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations
- Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex
- Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study
- Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium
- A Tissue-Bioengineering Strategy for Modeling Rare Human Kidney Diseases In Vivo
- Parent-Reported Measure of Repetitive Behavior in Phelan-McDermid Syndrome
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder
- Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND)
- Neurodevelopmental profile of HIVEP2-related disorder
- Enhanced prime editing systems by manipulating cellular determinants of editing outcomes
- Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels
- Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates.
- Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
- Newborn Screening for Neurodevelopmental Diseases: Are We There Yet?
- Molecular signatures of response to mecasermin in children with Rett syndrome
- A randomized controlled trial of Everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome
- The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth
- High-throughput Imaging of ATG9A Distribution in Fibroblasts as a Diagnostic Functional Assay for Adaptor Protein Complex 4 - Associated Hereditary Spastic Paraplegia
- AP-4-mediated axonal transport controls endocannabinoid production in neurons.
- Mendelian Etiologies Identified with Whole Exome Sequencing in Cryptogenic and Non-Cryptogenic Cerebral Palsy
- Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem)
- Validation of a computational phenotype of the Cleveland Clinic criteria in finding patients who need to be genetically tested for pathogenic PTEN mutations across three pediatric Electronic Health Records
- Single-cell dissection of the human brain vasculature
- The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review
- Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis
- Tubers affecting the fusiform face area are associated with autism diagnosis.
- Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex
- Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change
- A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells
- Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
- Updated consensus guidelines on the management of Phelan-McDermid syndrome
- Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex
- Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex
- Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes
- Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies
- Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex
- Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia
- Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor
- Non-canonical functions of a mutant TSC2 protein in mitotic division
- ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations
- The role of TSC1 and TSC2 proteins in neuronal axons
- Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs
- High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia