My goal is to bring new treatments to childhood neurological diseases and improve the lives of children and families affected by these conditions.

EDUCATION

Medical School

  • Yale Medical School , 1995 , New Haven , CT

Internship

  • Children's Hospital of Philadelphia , 1996 , Philadelphia , PA

Residency

  • Children's Hospital of Philadelphia , 1997 , Philadelphia , PA

Residency

  • Boston Children's Hospital , 2000 , Boston , MA

Philosophy of Care

I chose child neurology as a specialty because of my fascination with how the brain develops. Child neurology as a field is going through an immense change. We are moving from just describing symptoms and giving clinical diagnoses to actually figuring our what gene or mechanism is causing the disease and in some cases offering mechanism-based treatments. Both in the lab and in the clinic, my goal is to bring new treatments to childhood neurological diseases and improve the lives of children and families affected by these conditions.

PROFESSIONAL HISTORY

I have dedicated my career to investigating the basic mechanisms by which nerve cells communicate with one another and caring for patients with neurological conditions in whom these processes have gone awry. During my PhD work, I studied a group of enzymes expressed in the developing brain. This immersion in neurodevelopment contributed to my decision to pursue child neurology training. After training as a child neurologist, I returned to the lab and investigated basic mechanisms of how the brain gets wired. As an independent physician-scientist, I turned my focus to Tuberous Sclerosis Complex (TSC), a neurogenetic disorder associated with epilepsy, intellectual disability and autism. My laboratory has identified several steps during brain development in which genes that cause TSC play crucial roles. As director of the multi-disciplinary TSC clinic at Boston Children’s Hospital (BCH), I am in a unique position to translate our basic science findings to TSC patients. My goal is to translate insights gained from studying brain development to improvements in patient care through early detection, treatment and prevention of problems associated with TSC and related neurological diseases.

 

Dr. Sahin serves as an expert for the Department of Neurology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

  • American Board of Psychiatry and Neurology, Child and Adolescent Neurology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder. Neurosci Res. 2021 Oct 05. View abstract
  2. Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022. View abstract
  3. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: Results from the developmental Synaptopathies consortium. Hum Mol Genet. 2021 Sep 24. View abstract
  4. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 Sep 20. View abstract
  5. Determination of the frequency of hyperprolactinemia-related etiologies and the etiology-specific mean prolactin levels. Minerva Endocrinol (Torino). 2021 Sep 16. View abstract
  6. Calcitonin levels in washout samples vs. cytology in detection of malignant lymph node metastasis in recurrent medullary thyroid cancer. Turk J Med Sci. 2021 Sep 14. View abstract
  7. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Am J Med Genet A. 2021 Aug 23. View abstract
  8. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. View abstract
  9. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Ann N Y Acad Sci. 2021 Aug 02. View abstract
  10. Assessment of diagnostic value of preoperative elastography in thyroid nodules having indeterminate cytology results. Turk J Med Sci. 2021 Jul 22. View abstract
  11. Disease Severity and Motor Impairment Correlate With Health-Related Quality of Life in AP-4-Associated Hereditary Spastic Paraplegia. Neurol Genet. 2021 Aug; 7(4):e605. View abstract
  12. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. Elife. 2021 07 14; 10. View abstract
  13. Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex. Pediatr Neurol. 2021 Oct; 123:1-9. View abstract
  14. Clinical outcomes of non-diabetic COVID-19 patients with different blood glucose levels: a nationwide Turkish study (TurCoGlycemia). Endocrine. 2021 08; 73(2):261-269. View abstract
  15. Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review. Ann Clin Transl Neurol. 2021 07; 8(7):1388-1397. View abstract
  16. 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. View abstract
  17. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29. View abstract
  18. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4M1-associated hereditary spastic paraplegia (SPG50). Stem Cell Res. 2021 05; 53:102335. View abstract
  19. Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders. Stem Cell Reports. 2021 Jun 08; 16(6):1446-1457. View abstract
  20. Generation and characterization of human induced pluripotent stem cells (iPSCs) from three male and three female patients with CDKL5 Deficiency Disorder (CDD). Stem Cell Res. 2021 05; 53:102276. View abstract
  21. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2021 Feb 17. View abstract
  22. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. View abstract
  23. A randomized double-blind controlled trial of everolimus in individuals with PTEN mutations: Study design and statistical considerations. Contemp Clin Trials Commun. 2021 Mar; 21:100733. View abstract
  24. Cross-level analysis of molecular and neurobehavioral function in a prospective series of patients with germline heterozygous PTEN mutations with and without autism. Mol Autism. 2021 01 28; 12(1):5. View abstract
  25. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739. View abstract
  26. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. View abstract
  27. A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons. STAR Protoc. 2020 Dec 18; 1(3):100189. View abstract
  28. Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders. Front Integr Neurosci. 2020; 14:616641. View abstract
  29. Tuberous sclerosis: a review of the past, present, and future Turk J Med Sci. 2020 11 03; 50(SI-2):1665-1676. View abstract
  30. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. View abstract
  31. Correction: Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2020 Oct; 22(10):1731-1732. View abstract
  32. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain. 2020 10 01; 143(10):2929-2944. View abstract
  33. The Impact of COVID-19 on Individuals With Intellectual and Developmental Disabilities: Clinical and Scientific Priorities. Am J Psychiatry. 2020 11 01; 177(11):1091-1093. View abstract
  34. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. Pediatr Neurol. 2020 12; 113:46-50. View abstract
  35. Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. Cell Rep. 2020 06 23; 31(12):107780. View abstract
  36. LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS. Proc IEEE Int Symp Biomed Imaging. 2020 Apr; 2020:1910-1914. View abstract
  37. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396. View abstract
  38. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. View abstract
  39. Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder? Neuron. 2020 05 06; 106(3):359-361. View abstract
  40. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376. View abstract
  41. The Connectivity Fingerprint of the Fusiform Gyrus Captures the Risk of Developing Autism in Infants with Tuberous Sclerosis Complex. Cereb Cortex. 2020 04 14; 30(4):2199-2214. View abstract
  42. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex. Pediatr Neurol. 2020 08; 109:39-46. View abstract
  43. Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex. Front Integr Neurosci. 2020; 14:14. View abstract
  44. Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52. Ann Clin Transl Neurol. 2020 04; 7(4):584-589. View abstract
  45. EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis Complex. J Autism Dev Disord. 2020 Mar; 50(3):916-923. View abstract
  46. Posterior Neocortex-Specific Regulation of Neuronal Migration by CEP85L Identifies Maternal Centriole-Dependent Activation of CDK5. Neuron. 2020 04 22; 106(2):246-255.e6. View abstract
  47. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. Mol Autism. 2020 02 19; 11(1):16. View abstract
  48. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. View abstract
  49. Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking. Hum Mol Genet. 2020 01 15; 29(2):320-334. View abstract
  50. Lesion-Constrained Electrical Source Imaging: A Novel Approach in Epilepsy Surgery for Tuberous Sclerosis Complex. J Clin Neurophysiol. 2020 Jan; 37(1):79-86. View abstract
  51. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. Adv Neurobiol. 2020; 25:1-31. View abstract
  52. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy Behav. 2020 02; 103(Pt A):106844. View abstract
  53. Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorder. J Neurodev Disord. 2019 12 16; 11(1):36. View abstract
  54. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436. View abstract
  55. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View abstract
  56. Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. J Neurosci. 2019 11 20; 39(47):9294-9305. View abstract
  57. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487. View abstract
  58. Generation and characterization of six human induced pluripotent stem cell lines (iPSC) from three families with AP4B1-associated hereditary spastic paraplegia (SPG47). Stem Cell Res. 2019 10; 40:101575. View abstract
  59. Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice. Hum Mol Genet. 2019 09 01; 28(17):2952-2964. View abstract
  60. Early patterns of functional brain development associated with autism spectrum disorder in tuberous sclerosis complex. Autism Res. 2019 12; 12(12):1758-1773. View abstract
  61. The association of angiopoietin-like peptide 4 levels with obesity and hepatosteatosis in adolescents. Cytokine. 2020 01; 125:154802. View abstract
  62. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Front Integr Neurosci. 2019; 13:24. View abstract
  63. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759. View abstract
  64. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. 2019 08; 60(8):1721-1732. View abstract
  65. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777. View abstract
  66. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. Ann Clin Transl Neurol. 2019 07; 6(7):1178-1190. View abstract
  67. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet Med. 2019 11; 21(11):2413-2421. View abstract
  68. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643. View abstract
  69. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240. View abstract
  70. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Am Psychol. 2019 04; 74(3):356-367. View abstract
  71. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63. View abstract
  72. Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov. 2018 Dec 20. View abstract
  73. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med. 2019 05; 81(5):3314-3329. View abstract
  74. Electrographic spikes are common in wildtype mice. Epilepsy Behav. 2018 12; 89:94-98. View abstract
  75. Yield of Emergent Neuroimaging in Patients With Sturge-Weber Syndrome Presenting With Acute Neurologic Symptoms. J Child Neurol. 2019 01; 34(1):17-21. View abstract
  76. PROBING MECHANICAL PROPERTIES OF BRAIN IN A TUBEROUS SCLEROSIS MODEL OF AUTISM. J Biomech Eng. 2018 Oct 22. View abstract
  77. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30. View abstract
  78. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976. View abstract
  79. Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors. Cell Rep. 2018 10 09; 25(2):357-367.e4. View abstract
  80. High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex. Epilepsy Res. 2018 12; 148:1-7. View abstract
  81. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex. Cereb Cortex. 2018 10 01; 28(10):3665-3672. View abstract
  82. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View abstract
  83. The mouse as a model for neuropsychiatric drug development. Curr Biol. 2018 09 10; 28(17):R909-R914. View abstract
  84. A unified circuit for social behavior. Neurobiol Learn Mem. 2019 11; 165:106920. View abstract
  85. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clin Pharmacol Ther. 2018 10; 104(4):603-606. View abstract
  86. mTOR'ing across the Cortex by Chopping the Cilia. Neuron. 2018 07 11; 99(1):3-5. View abstract
  87. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. View abstract
  88. Automated Detection of High Frequency Oscillations in Human Scalp Electroencephalogram. Annu Int Conf IEEE Eng Med Biol Soc. 2018 Jul; 2018:3116-3119. View abstract
  89. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. View abstract
  90. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524. View abstract
  91. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 07; 84:32-38. View abstract
  92. Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex. Clin Neurophysiol. 2018 07; 129(7):1458-1466. View abstract
  93. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View abstract
  94. Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Mol Psychiatry. 2018 11; 23(11):2167-2183. View abstract
  95. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View abstract
  96. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. View abstract
  97. A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility. Neurobiol Dis. 2018 03; 111:91-101. View abstract
  98. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. View abstract
  99. Clinical and genetic characterization of AP4B1-associated SPG47. . 2018 02; 176(2):311-318. View abstract
  100. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann Clin Transl Neurol. 2017 12; 4(12):877-887. View abstract
  101. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6). View abstract
  102. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990. View abstract
  103. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep. 2017 07 25; 20(4):868-880. View abstract
  104. Classification of respiratory disturbances in Rett Syndrome patients using Restricted Boltzmann Machine. Annu Int Conf IEEE Eng Med Biol Soc. 2017 Jul; 2017:442-445. View abstract
  105. Utility of the Autism Observation Scale for Infants in Early Identification of Autism in Tuberous Sclerosis Complex. Pediatr Neurol. 2017 Oct; 75:80-86. View abstract
  106. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View abstract
  107. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. Mol Autism. 2017; 8:26. View abstract
  108. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. View abstract
  109. Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. J Child Neurol. 2017 08; 32(9):840-845. View abstract
  110. p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2017 06 15; 77(12):3255-3267. View abstract
  111. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). View abstract
  112. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252. View abstract
  113. Translational use of event-related potentials to assess circuit integrity in ASD. Nat Rev Neurol. 2017 03; 13(3):160-170. View abstract
  114. Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. J Exp Med. 2017 03 06; 214(3):681-697. View abstract
  115. Using tuberous sclerosis complex to understand the impact of MTORC1 signaling on mitochondrial dynamics and mitophagy in neurons. Autophagy. 2017 Apr 03; 13(4):754-756. View abstract
  116. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. View abstract
  117. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Pediatr Neurol. 2017 02; 67:59-63. View abstract
  118. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. View abstract
  119. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry. J Vis Exp. 2016 09 06; (115). View abstract
  120. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72. View abstract
  121. Effect of Angiofibromas on Quality of Life and Access to Care in Tuberous Sclerosis Patients and Their Caregivers. Pediatr Dermatol. 2016 Sep; 33(5):518-25. View abstract
  122. The Pediatric Neurology Trainee Publication Award for 2015. Pediatr Neurol. 2016 Oct; 63:1-2. View abstract
  123. Direct current stimulation induces mGluR5-dependent neocortical plasticity. Ann Neurol. 2016 08; 80(2):233-46. View abstract
  124. Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference. Pediatr Neurol. 2016 07; 60:1-12. View abstract
  125. Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. Hum Mol Genet. 2016 06 01; 25(11):2168-2181. View abstract
  126. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View abstract
  127. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol. 2016 05; 58:12-24. View abstract
  128. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22. View abstract
  129. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37. View abstract
  130. Super-resolution reconstruction in frequency, image, and wavelet domains to reduce through-plane partial voluming in MRI. Med Phys. 2015 Dec; 42(12):6919-32. View abstract
  131. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30. View abstract
  132. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637. View abstract
  133. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015 Nov 20; 350(6263). View abstract
  134. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45. View abstract
  135. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34. View abstract
  136. Characterizing brain tissue by assessment of the distribution of anisotropic microstructural environments in diffusion-compartment imaging (DIAMOND). Magn Reson Med. 2016 09; 76(3):963-77. View abstract
  137. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. J Child Neurol. 2015 Dec; 30(14):1954-62. View abstract
  138. The Stress-Induced Atf3-Gelsolin Cascade Underlies Dendritic Spine Deficits in Neuronal Models of Tuberous Sclerosis Complex. J Neurosci. 2015 Jul 29; 35(30):10762-72. View abstract
  139. Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci. 2016 02; 1366(1):5-19. View abstract
  140. Cerebellar associative sensory learning defects in five mouse autism models. Elife. 2015 Jul 09; 4:e06085. View abstract
  141. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics. 2015 Jul; 12(3):519-20. View abstract
  142. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics. 2015 Jul; 12(3):572-83. View abstract
  143. Comparison of therapeutic characteristics of islet cell transplantation simultaneous with pancreatic mesenchymal stem cell transplantation in rats with Type 1 diabetes mellitus. Stem Cell Rev Rep. 2015 Jun; 11(3):526-32. View abstract
  144. Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex. J Child Neurol. 2016 Feb; 31(2):195-202. View abstract
  145. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-1151. View abstract
  146. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug; 53(2):103-4. View abstract
  147. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48. View abstract
  148. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102. View abstract
  149. Vigabatrin can enhance electroretinographic responses in pigmented and albino rats. Doc Ophthalmol. 2015 Aug; 131(1):1-11. View abstract
  150. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58. View abstract
  151. Longitudinal changes in diffusion properties in white matter pathways of children with tuberous sclerosis complex. Pediatr Neurol. 2015 Jun; 52(6):615-23. View abstract
  152. Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handb Clin Neurol. 2015; 132:3-8. View abstract
  153. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55. View abstract
  154. The neurology of mTOR. Neuron. 2014 Oct 22; 84(2):275-91. View abstract
  155. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35. View abstract
  156. Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582. View abstract
  157. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View abstract
  158. Gene therapy for childhood neurological disease. Pediatr Neurol. 2014 Nov; 51(5):595-6. View abstract
  159. Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice. Epilepsy Res Treat. 2014; 2014:784137. View abstract
  160. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet. 2014 Dec 01; 23(23):6318-31. View abstract
  161. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View abstract
  162. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 08; 83(2):160-8. View abstract
  163. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. J Clin Invest. 2014 Jun; 124(6):2774-84. View abstract
  164. EphA7 signaling guides cortical dendritic development and spine maturation. Proc Natl Acad Sci U S A. 2014 Apr 01; 111(13):4994-9. View abstract
  165. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74. View abstract
  166. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16. View abstract
  167. Trust but verify: the introduction of plagiarism detection software. Pediatr Neurol. 2014 Apr; 50(4):287. View abstract
  168. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014 Apr; 50(4):290-6. View abstract
  169. A mathematical framework for the registration and analysis of multi-fascicle models for population studies of the brain microstructure. IEEE Trans Med Imaging. 2014 Feb; 33(2):504-17. View abstract
  170. Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions. Future Neurol. 2013 Sep; 8(5):583-597. View abstract
  171. A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS. Nat Cell Biol. 2013 Oct; 15(10):1186-96. View abstract
  172. The neuroprotective drug riluzole acts via small conductance Ca2+-activated K+ channels to ameliorate defects in spinal muscular atrophy models. J Neurosci. 2013 Apr 10; 33(15):6557-62. View abstract
  173. Brain functional networks in syndromic and non-syndromic autism: a graph theoretical study of EEG connectivity. BMC Med. 2013 Feb 27; 11:54. View abstract
  174. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10. View abstract
  175. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7. View abstract
  176. Fragile X syndrome therapeutics: translation, meet translational medicine. Neuron. 2013 Jan 23; 77(2):212-3. View abstract
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