Information

Related Research Units

Intellectual and Developmental Disabilities Research Center Research
The Manton Center for Orphan Disease Research
Neurology Research
F.M. Kirby Neurobiology Center

Research Overview

I am investigating the normal cellular functions of signaling pathways implicated in neurological disease, with an emphasis on neuronal connectivity. My research centers upon the proteins affected in tuberous sclerosis complex (TSC), a neurological disorder whose genetic basis is well understood but whose cell biology in the brain remains less well understood. As a clinical neurologist, I also treat patients with TSC and related neurodevelopmental disorders. One of the ultimate goals of our research is to guide the development of therapeutics for disorders of neural connectivity. My team is currently conducting clinical trials investigating new treatments for TSC and related disorders.

Tuberous Sclerosis Complex:

TSC is a multi-system autosomal dominant disease caused by loss-of-function mutations in the TSC1 or TSC2 gene. This disease is characterized by the formation of benign tumors (hamartomas) in several organs. The brain is almost invariably affected, and patients often present with epilepsy, autism and intellectual disability. We hypothesize that a miswiring of neuronal connections may underlie these neurological symptoms.

We discovered that the TSC1 and TSC2 proteins regulate axon formation and growth. In mouse models of TSC, we observe ectopic axons and abnormal axon path-finding in the brain. The axonal functions of the TSC proteins may be important in understanding the neurological features of the disease--and, more generally, in understanding the pathology of the autism spectrum disorders that affect patients both with and without TSC.

We are further exploring the molecular network in which the TSC1/2 proteins function and have found that modulation of the growth-promoting mTOR pathway, which is regulated by TSC proteins, can contribute to other neuronal functions of the TSC signaling network, such as the control of neuron size, myelination, autophagy, mitochondrial dynamics and stress responses. For instance, my lab, in collaboration with others, has shown that in a mouse model of TSC, neurons are sized abnormally, are not sufficiently myelinated and are prone to cell death. In other studies, we have found that TSC activity mediates mTOR's response to neuronal stress. In particular, neurons lacking a functional TSC protein complex are more vulnerable to endoplasmic reticulum stress-induced cell death.

More recently, we have been investigating the role of TSC/mTOR signaling cascade in specific circuits in the CNS. We have generated a cerebellar Purkinje neuron-specific knockout of Tsc1 that displays autistic features, such as impairments in social interaction, repetitive behaviors and ultrasonic vocalizations. Importantly, treating these mice with an mTOR inhibitor prevents the development of these aberrant behaviors. Interestingly, human Purkinje neurons derived from TSC-patient iPSC’s also recapitulate most of the cellular phenotypes we see in our mouse model.

We are now using a combination of iPSC-derived neurons in culture, mouse models and human EEG and imaging to better characterize the neuronal connectivity deficits in TSC and related developmental disorders with the goal of developing new therapies for these children.

Research Background

We’re honored that Dr. Sahin has been elected to the National Academy of Medicine for 2023, for his world-leading expertise in the neurobiology of autism and pioneering translational studies for neurogenetic disorders. His work has identified mechanisms by which tuberous sclerosis leads to mis-wiring of neurons, leading to the identification of potential therapies for this and related disorders.

________________________________________

Mustafa Sahin received his MD and PhD in neurobiology at the Yale University School of Medicine. He completed an internship at Children's Hospital of Philadelphia and residencies at both Children's Hospital of Philadelphia and Boston Children's Hospital. He has received numerous awards, including a Mentored Clinical Scientist Development Award, a William Randolph Hearst Fund Award, a Spinal Muscular Atrophy Foundation Young Investigator Award, the 2005 Young Investigator Award from the Child Neurology Society and a 2009 John Merck Scholar Award

 

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

Publications

  1. Human TSC2 mutant cells exhibit aberrations in early neurodevelopment accompanied by changes in the DNA Methylome. Hum Mol Genet. 2025 Jan 29. View Abstract
  2. Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders. Front Neurosci. 2024; 18:1524577. View Abstract
  3. The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND. Genet Med. 2024 Dec 20; 27(3):101337. View Abstract
  4. Remote monitoring of social attention in neurogenetic syndromes and idiopathic neurodevelopmental disability. Autism Res. 2024 Dec 06. View Abstract
  5. Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders. Curr Opin Neurobiol. 2024 Nov 28; 90:102934. View Abstract
  6. Quantifying neurobehavioral profiles across neurodevelopmental genetic syndromes and idiopathic neurodevelopmental disorders. Dev Med Child Neurol. 2024 Nov 11. View Abstract
  7. Excitatory Cortical Neurons from CDKL5 Deficiency Disorder Patient-Derived Organoids Show Early Hyperexcitability Not Identified in Neurogenin2 Induced Neurons. bioRxiv. 2024 Nov 11. View Abstract
  8. Accumulated seizure burden predicts neurodevelopmental outcome at 36?months of age in patients with tuberous sclerosis complex. Epilepsia. 2025 Jan; 66(1):117-133. View Abstract
  9. Thyroid and cardiovascular diseases. Turk J Med Sci. 2024; 54(7):1420-1427. View Abstract
  10. A Hybrid 2D-to-3D in vitro Differentiation Platform Improves Outcomes of Cerebral Cortical Organoid Generation in hiPSCs. Curr Protoc. 2024 Oct; 4(10):e70022. View Abstract
  11. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov; 96(5):900-913. View Abstract
  12. AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growth. bioRxiv. 2024 Sep 23. View Abstract
  13. Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome. Am J Med Genet A. 2025 Jan; 197(1):e63872. View Abstract
  14. A roadmap for SHANK3-related Epilepsy Research: recommendations from the 2023 strategic planning workshop. Ther Adv Rare Dis. 2024 Jan-Dec; 5:26330040241273464. View Abstract
  15. Evaluation and follow-up of patients diagnosed with hypophysitis: a cohort study. Eur J Endocrinol. 2024 Aug 30; 191(3):312-322. View Abstract
  16. Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. Pediatr Neurol. 2024 Oct; 159:62-71. View Abstract
  17. AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient. Nat Med. 2024 Jul; 30(7):1882-1887. View Abstract
  18. Common human leucocyte antigensassociated with the development of subacute thyroiditis and COVID-19. Hum Immunol. 2024 Jul; 85(4):110834. View Abstract
  19. Human TSC2 Mutant Cells Exhibit Aberrations in Early Neurodevelopment Accompanied by Changes in the DNA Methylome. bioRxiv. 2024 Jun 06. View Abstract
  20. Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit. J Neurodev Disord. 2024 May 23; 16(1):27. View Abstract
  21. Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures. J Child Neurol. 2024 May; 39(5-6):178-189. View Abstract
  22. Variation in neuroimaging and outcomes in patients with Sturge Weber syndrome Type III. Brain Dev. 2024 Aug; 46(7):244-249. View Abstract
  23. Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25. View Abstract
  24. Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder. J Neurodev Disord. 2024 Apr 24; 16(1):21. View Abstract
  25. Generation and characterization of six human induced pluripotent stem cell lines (hiPSCs) from three individuals with SSADH Deficiency and CRISPR-corrected isogenic controls. Stem Cell Res. 2024 Jun; 77:103424. View Abstract
  26. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2024 05; 47(3):476-493. View Abstract
  27. Exploring the neurological features of individuals with germline PTEN variants: A multicenter study. Ann Clin Transl Neurol. 2024 May; 11(5):1301-1309. View Abstract
  28. Publisher Correction to: Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex. J Autism Dev Disord. 2024 Mar; 54(3):1232. View Abstract
  29. Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex. Am J Med Genet A. 2024 06; 194(6):e63569. View Abstract
  30. Defining the relationship between ovarian adult granulosa cell tumors and synchronous endometrial pathology: Does ovarian tumor size correlate with endometrial cancer? J Obstet Gynaecol Res. 2024 Apr; 50(4):655-662. View Abstract
  31. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Nat Commun. 2024 Jan 17; 15(1):584. View Abstract
  32. The role of TSC1 and TSC2 proteins in neuronal axons. Mol Psychiatry. 2024 Apr; 29(4):1165-1178. View Abstract
  33. Rodent Models for ASD Biomarker Development. Adv Neurobiol. 2024; 40:189-218. View Abstract
  34. Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs. Comput Struct Biotechnol J. 2024 Dec; 23:638-647. View Abstract
  35. ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View Abstract
  36. Rescue of Impaired Blood-Brain Barrier in Tuberous Sclerosis Complex Patient Derived Neurovascular Unit. bioRxiv. 2023 Dec 16. View Abstract
  37. Clinical variants paired with phenotype: A rich resource for brain gene curation. Genet Med. 2024 03; 26(3):101035. View Abstract
  38. Non-canonical functions of a mutant TSC2 protein in mitotic division. PLoS One. 2023; 18(10):e0292086. View Abstract
  39. Effect of physical activity level on pain, functionality, and quality of life in migraine patients. Agri. 2023 Oct; 35(4):212-219. View Abstract
  40. International consensus recommendations for the identification and treatment of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND). J Neurodev Disord. 2023 09 14; 15(1):32. View Abstract
  41. Evaluation of chronic pruritus and associated skin findings in patients with diabetes mellitus. Turk J Med Sci. 2023; 53(5):1489-1497. View Abstract
  42. S6K1 Regulates GSK3 under Conditions of mTOR-Dependent Feedback Inhibition of Akt. Mol Cell. 2023 Sep 07; 83(17):3217. View Abstract
  43. Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial. Ann Neurol. 2023 Aug 28. View Abstract
  44. Seizure reduction in TSC2-mutant mouse model by an mTOR catalytic inhibitor. Ann Clin Transl Neurol. 2023 10; 10(10):1790-1801. View Abstract
  45. Development of webcam-collected and artificial-intelligence-derived social and cognitive performance measures for neurodevelopmental genetic syndromes. Am J Med Genet C Semin Med Genet. 2023 09; 193(3):e32058. View Abstract
  46. Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. Cell Rep. 2023 08 29; 42(8):112838. View Abstract
  47. Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia. Mov Disord. 2023 09; 38(9):1742-1750. View Abstract
  48. Development and Feasibility of the Self-Report Quantified Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders Checklist (TAND-SQ). Pediatr Neurol. 2023 10; 147:101-123. View Abstract
  49. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. View Abstract
  50. 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. Res Sq. 2023 Jun 12. View Abstract
  51. Morphological Features of Language Regions in Individuals with Tuberous Sclerosis Complex. J Autism Dev Disord. 2024 Aug; 54(8):3155-3175. View Abstract
  52. Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies. J Clin Invest. 2023 05 15; 133(10). View Abstract
  53. The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15. Brain. 2023 05 02; 146(5):2003-2015. View Abstract
  54. Development of informant-report neurobehavioral survey scales for PTEN hamartoma tumor syndrome and related neurodevelopmental genetic syndromes. Am J Med Genet A. 2023 07; 191(7):1741-1757. View Abstract
  55. Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex. Pediatr Neurol. 2023 07; 144:26-32. View Abstract
  56. Longitudinal neurobehavioral profiles in children and young adults with PTEN hamartoma tumor syndrome and reliable methods for assessing neurobehavioral change. J Neurodev Disord. 2023 01 14; 15(1):3. View Abstract
  57. A Robust Pipeline for the Multi-Stage Accelerated Differentiation of Functional 3D Cortical Organoids from Human Pluripotent Stem Cells. Curr Protoc. 2023 Jan; 3(1):e641. View Abstract
  58. Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies. J Dev Biol. 2022 Dec 13; 10(4). View Abstract
  59. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 12 01; 79(12):1287-1295. View Abstract
  60. Tubers Affecting the Fusiform Face Area Are Associated with Autism Diagnosis. Ann Neurol. 2023 03; 93(3):577-590. View Abstract
  61. 16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. Front Psychiatry. 2022; 13:924956. View Abstract
  62. A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndrome. Hum Mol Genet. 2022 10 10; 31(20):3393-3404. View Abstract
  63. Dynamic 3D Combinatorial Generation of hPSC-Derived Neuromesodermal Organoids With Diverse Regional and Cellular Identities. Curr Protoc. 2022 Oct; 2(10):e568. View Abstract
  64. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. HGG Adv. 2023 01 12; 4(1):100145. View Abstract
  65. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Mov Disord. 2022 12; 37(12):2440-2446. View Abstract
  66. DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting. Cell Rep. 2022 08 30; 40(9):111278. View Abstract
  67. GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy. Mol Ther Methods Clin Dev. 2022 Dec 08; 27:32-46. View Abstract
  68. Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome. iScience. 2022 Sep 16; 25(9):104966. View Abstract
  69. Newborn screening for neurodevelopmental diseases: Are we there yet? Am J Med Genet C Semin Med Genet. 2022 06; 190(2):222-230. View Abstract
  70. Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. Am J Med Genet A. 2022 09; 188(9):2590-2598. View Abstract
  71. Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis. J Neuroimaging. 2022 09; 32(5):991-1000. View Abstract
  72. Molecular Signatures of Response to Mecasermin in Children With Rett Syndrome. Front Neurosci. 2022; 16:868008. View Abstract
  73. The non-essential TSC complex component TBC1D7 restricts tissue mTORC1 signaling and brain and neuron growth. Cell Rep. 2022 05 17; 39(7):110824. View Abstract
  74. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428. View Abstract
  75. Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates. Bio Protoc. 2022 May 05; 12(9):e4407. View Abstract
  76. Validation of a computational phenotype for finding patients eligible for genetic testing for pathogenic PTEN variants across three centers. J Neurodev Disord. 2022 03 23; 14(1):24. View Abstract
  77. Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early-onset psychosis. Ann Clin Transl Neurol. 2022 04; 9(4):570-576. View Abstract
  78. Empowering Families Through Technology: A Mobile-Health Project to Reduce the TAND Identification and Treatment Gap (TANDem). Front Psychiatry. 2022; 13:834628. View Abstract
  79. AP-4-mediated axonal transport controls endocannabinoid production in neurons. Nat Commun. 2022 02 25; 13(1):1058. View Abstract
  80. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637. View Abstract
  81. Single-cell dissection of the human brain vasculature. Nature. 2022 03; 603(7903):893-899. View Abstract
  82. The research landscape of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)-a comprehensive scoping review. J Neurodev Disord. 2022 02 13; 14(1):13. View Abstract
  83. Characterizing dermatologic findings among patients with PTEN hamartoma tumor syndrome: Results of a multicenter cohort study. J Am Acad Dermatol. 2023 Jul; 89(1):90-98. View Abstract
  84. Mendelian etiologies identified with whole exome sequencing in cerebral palsy. Ann Clin Transl Neurol. 2022 02; 9(2):193-205. View Abstract
  85. Developing and evaluating treatments for the challenges of autism and related neurodevelopmental disabilities. J Neurodev Disord. 2021 11 17; 13(1):56. View Abstract
  86. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. View Abstract
  87. A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. NPJ Genom Med. 2021 Nov 04; 6(1):91. View Abstract
  88. Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study. Ann Neurol. 2021 12; 90(6):874-886. View Abstract
  89. Neurodevelopmental profile of HIVEP2-related disorder. Dev Med Child Neurol. 2022 05; 64(5):654-661. View Abstract
  90. Multivariate data analysis identifies natural clusters of Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders (TAND). Orphanet J Rare Dis. 2021 10 24; 16(1):447. View Abstract
  91. Endothelial GNAQ p.R183Q Increases ANGPT2 (Angiopoietin-2) and Drives Formation of Enlarged Blood Vessels. Arterioscler Thromb Vasc Biol. 2022 01; 42(1):e27-e43. View Abstract
  92. Enhanced prime editing systems by manipulating cellular determinants of editing outcomes. Cell. 2021 10 28; 184(22):5635-5652.e29. View Abstract
  93. Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder. Neurosci Res. 2022 Mar; 176:73-78. View Abstract
  94. 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
  95. High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia. Brain Commun. 2021; 3(4):fcab221. View Abstract
  96. Systematic Analysis of Brain MRI Findings in Adaptor Protein Complex 4-Associated Hereditary Spastic Paraplegia. Neurology. 2021 11 09; 97(19):e1942-e1954. View Abstract
  97. Toward better characterization of restricted and repetitive behaviors in individuals with germline heterozygous PTEN mutations. Am J Med Genet A. 2021 11; 185(11):3401-3410. View Abstract
  98. Psychiatric Characteristics Across Individuals With PTEN Mutations. Front Psychiatry. 2021; 12:672070. View Abstract
  99. Harnessing rare variants in neuropsychiatric and neurodevelopment disorders-a Keystone Symposia report. Ann N Y Acad Sci. 2021 12; 1506(1):5-17. View Abstract
  100. 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
  101. Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. Elife. 2021 07 14; 10. View Abstract
  102. Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex. Pediatr Neurol. 2021 10; 123:1-9. View Abstract
  103. Factors influencing the acute pentylenetetrazole-induced seizure paradigm and a literature review. Ann Clin Transl Neurol. 2021 07; 8(7):1388-1397. View Abstract
  104. 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
  105. The clinical outcomes of COVID-19 infection in patients with a history of thyroid cancer: A nationwide study. Clin Endocrinol (Oxf). 2021 10; 95(4):628-637. View Abstract
  106. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29. View Abstract
  107. 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
  108. Balancing serendipity and reproducibility: Pluripotent stem cells as experimental systems for intellectual and developmental disorders. Stem Cell Reports. 2021 06 08; 16(6):1446-1457. View Abstract
  109. 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
  110. Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations. J Autism Dev Disord. 2022 Jan; 52(1):414-422. View Abstract
  111. Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1. Autophagy. 2021 Jan; 17(1):1-382. View Abstract
  112. 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
  113. 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
  114. Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network. Ann Neurol. 2021 04; 89(4):726-739. View Abstract
  115. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet. 2021 Feb; 7(1):e544. View Abstract
  116. A Cell-Based Assay Optimized for High-Content Cilia Imaging with Primary Rat Hippocampal Neurons. STAR Protoc. 2020 12 18; 1(3):100189. View Abstract
  117. Correction: p62/SQSTM1 Cooperates with Hyperactive mTORC1 to Regulate Glutathione Production, Maintain Mitochondrial Integrity, and Promote Tumorigenesis. Cancer Res. 2020 Dec 01; 80(23):5424. View Abstract
  118. Editorial: Biomarkers to Enable Therapeutics Development in Neurodevelopmental Disorders. Front Integr Neurosci. 2020; 14:616641. View Abstract
  119. Tuberous sclerosis: a review of the past, present, and future Turk J Med Sci. 2020 11 03; 50(SI-2):1665-1676. View Abstract
  120. 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
  121. 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
  122. 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
  123. 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
  124. Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis Complex. Pediatr Neurol. 2020 12; 113:46-50. View Abstract
  125. 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
  126. LEARNING TO DETECT BRAIN LESIONS FROM NOISY ANNOTATIONS. Proc IEEE Int Symp Biomed Imaging. 2020 Apr; 2020:1910-1914. View Abstract
  127. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396. View Abstract
  128. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2020 May 13; 10(1):8206. View Abstract
  129. Tau: A Novel Entry Point for mTOR-Based Treatments in Autism Spectrum Disorder? Neuron. 2020 05 06; 106(3):359-361. View Abstract
  130. Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex. PLoS One. 2020; 15(4):e0232376. View Abstract
  131. Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex. Pediatr Neurol. 2020 08; 109:39-46. View Abstract
  132. 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
  133. Auditory Processing of Speech and Tones in Children With Tuberous Sclerosis Complex. Front Integr Neurosci. 2020; 14:14. View Abstract
  134. 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
  135. 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
  136. 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
  137. Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex. Mol Autism. 2020 02 19; 11(1):16. View Abstract
  138. 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
  139. 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
  140. 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
  141. Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons. Adv Neurobiol. 2020; 25:1-31. View Abstract
  142. Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex. Epilepsy Behav. 2020 02; 103(Pt A):106844. View Abstract
  143. 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
  144. Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study. Epilepsia. 2019 12; 60(12):2428-2436. View Abstract
  145. Neurobehavioral phenotype of autism spectrum disorder associated with germline heterozygous mutations in PTEN. Transl Psychiatry. 2019 10 08; 9(1):253. View Abstract
  146. 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
  147. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 10; 25(10):1477-1487. View Abstract
  148. 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
  149. 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
  150. 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
  151. Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study. Front Integr Neurosci. 2019; 13:24. View Abstract
  152. Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex. J Neuroimaging. 2019 11; 29(6):750-759. View Abstract
  153. Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex. Epilepsia. 2019 08; 60(8):1721-1732. View Abstract
  154. The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex. J Child Neurol. 2019 10; 34(12):770-777. View Abstract
  155. White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. Ann Clin Transl Neurol. 2019 07; 6(7):1178-1190. View Abstract
  156. 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
  157. 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
  158. Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex. Annu Rev Genomics Hum Genet. 2019 08 31; 20:217-240. View Abstract
  159. Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration. Am Psychol. 2019 04; 74(3):356-367. View Abstract
  160. Tuberous Sclerosis Complex Genotypes and Developmental Phenotype. Pediatr Neurol. 2019 07; 96:58-63. View Abstract
  161. Probing Mechanical Properties of Brain in a Tuberous Sclerosis Model of Autism. J Biomech Eng. 2019 Mar 01; 141(3). View Abstract
  162. Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov. 2018 Dec 20. View Abstract
  163. Motion-robust diffusion compartment imaging using simultaneous multi-slice acquisition. Magn Reson Med. 2019 05; 81(5):3314-3329. View Abstract
  164. Electrographic spikes are common in wildtype mice. Epilepsy Behav. 2018 12; 89:94-98. View Abstract
  165. 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
  166. Longitudinal Effects of Everolimus on White Matter Diffusion in Tuberous Sclerosis Complex. Pediatr Neurol. 2019 01; 90:24-30. View Abstract
  167. Data-driven analyses revealed the comorbidity landscape of tuberous sclerosis complex. Neurology. 2018 11 20; 91(21):974-976. View Abstract
  168. Sensitive Periods for Cerebellar-Mediated Autistic-like Behaviors. Cell Rep. 2018 10 09; 25(2):357-367.e4. View Abstract
  169. 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
  170. Corpus Callosum White Matter Diffusivity Reflects Cumulative Neurological Comorbidity in Tuberous Sclerosis Complex. Cereb Cortex. 2018 10 01; 28(10):3665-3672. View Abstract
  171. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. View Abstract
  172. The mouse as a model for neuropsychiatric drug development. Curr Biol. 2018 09 10; 28(17):R909-R914. View Abstract
  173. A unified circuit for social behavior. Neurobiol Learn Mem. 2019 11; 165:106920. View Abstract
  174. The Way Forward for Mechanism-Based Therapeutics in Genetically Defined Neurodevelopmental Disorders. Clin Pharmacol Ther. 2018 10; 104(4):603-606. View Abstract
  175. mTOR'ing across the Cortex by Chopping the Cilia. Neuron. 2018 07 11; 99(1):3-5. View Abstract
  176. Author Correction: Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 Jul 03; 8(1):10294. View Abstract
  177. 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
  178. Neuronal activity regulates DROSHA via autophagy in spinal muscular atrophy. Sci Rep. 2018 05 21; 8(1):7907. View Abstract
  179. Vigabatrin for Epileptic Spasms and Tonic Seizures in Tuberous Sclerosis Complex. J Child Neurol. 2018 07; 33(8):519-524. View Abstract
  180. Quantitative Apparent Diffusion Coefficient Mapping May Predict Seizure Onset in Children With Sturge-Weber Syndrome. Pediatr Neurol. 2018 07; 84:32-38. View Abstract
  181. 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
  182. Cerebellar volume as an imaging marker of development in infants with tuberous sclerosis complex. Neurology. 2018 04 24; 90(17):e1493-e1500. View Abstract
  183. 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
  184. Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome. Ann Clin Transl Neurol. 2018 03; 5(3):323-332. View Abstract
  185. Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. View Abstract
  186. 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
  187. mGluR5 Modulation of Behavioral and Epileptic Phenotypes in a Mouse Model of Tuberous Sclerosis Complex. Neuropsychopharmacology. 2018 05; 43(6):1457-1465. View Abstract
  188. Clinical and genetic characterization of AP4B1-associated SPG47. Am J Med Genet A. 2018 02; 176(2):311-318. View Abstract
  189. Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders. Ann Clin Transl Neurol. 2017 12; 4(12):877-887. View Abstract
  190. Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants. Pediatrics. 2017 Dec; 140(6). View Abstract
  191. Early autism symptoms in infants with tuberous sclerosis complex. Autism Res. 2017 Dec; 10(12):1981-1990. View Abstract
  192. Aberrant Proteostasis of BMAL1 Underlies Circadian Abnormalities in a Paradigmatic mTOR-opathy. Cell Rep. 2017 07 25; 20(4):868-880. View Abstract
  193. 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
  194. 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
  195. Autism spectrum disorder and epileptic encephalopathy: common causes, many questions. J Neurodev Disord. 2017; 9:23. View Abstract
  196. Replicable in vivo physiological and behavioral phenotypes of the Shank3B null mutant mouse model of autism. Mol Autism. 2017; 8:26. View Abstract
  197. Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective. Pediatr Neurol. 2017 Oct; 75:91-95. View Abstract
  198. 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
  199. 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
  200. Combination Clearance Therapy and Barbiturate Coma for Severe Carbamazepine Overdose. Pediatrics. 2017 May; 139(5). View Abstract
  201. Influence of seizures on early development in tuberous sclerosis complex. Epilepsy Behav. 2017 05; 70(Pt A):245-252. View Abstract
  202. Translational use of event-related potentials to assess circuit integrity in ASD. Nat Rev Neurol. 2017 03; 13(3):160-170. View Abstract
  203. 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
  204. 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
  205. Impaired Mitochondrial Dynamics And Mitophagy In Neuronal Models Of Tuberous Sclerosis Complex. Cell Rep. 2016 11 15; 17(8):2162. View Abstract
  206. Somatic GNAQ Mutation is Enriched in Brain Endothelial Cells in Sturge-Weber Syndrome. Pediatr Neurol. 2017 02; 67:59-63. View Abstract
  207. Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex. Cell Rep. 2016 10 18; 17(4):1053-1070. View Abstract
  208. Characterizing Multiscale Mechanical Properties of Brain Tissue Using Atomic Force Microscopy, Impact Indentation, and Rheometry. J Vis Exp. 2016 09 06; (115). View Abstract
  209. Symptom profiles of autism spectrum disorder in tuberous sclerosis complex. Neurology. 2016 Aug 23; 87(8):766-72. View Abstract
  210. 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
  211. The Pediatric Neurology Trainee Publication Award for 2015. Pediatr Neurol. 2016 Oct; 63:1-2. View Abstract
  212. Direct current stimulation induces mGluR5-dependent neocortical plasticity. Ann Neurol. 2016 08; 80(2):233-46. View Abstract
  213. Metformin versus Placebo in Obese Pregnant Women without Diabetes. N Engl J Med. 2016 06 23; 374(25):2501. View Abstract
  214. Editorial: Essential Pathways and Circuits of Autism Pathogenesis. Front Neurosci. 2016; 10:182. View Abstract
  215. 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
  216. 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
  217. Epileptogenesis in neurocutaneous disorders with focus in Sturge Weber syndrome. F1000Res. 2016; 5. View Abstract
  218. Leveraging a Sturge-Weber Gene Discovery: An Agenda for Future Research. Pediatr Neurol. 2016 05; 58:12-24. View Abstract
  219. Engineering microdeletions and microduplications by targeting segmental duplications with CRISPR. Nat Neurosci. 2016 Mar; 19(3):517-22. View Abstract
  220. Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism. Brain. 2016 Feb; 139(Pt 2):317-37. View Abstract
  221. 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
  222. Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings. Pediatr Neurol. 2016 05; 58:25-30. View Abstract
  223. 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
  224. Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders. Science. 2015 Nov 20; 350(6263). View Abstract
  225. Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. Neurology. 2015 Nov 03; 85(18):1536-45. View Abstract
  226. Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants. Pediatr Neurol. 2016 Jan; 54:29-34. View Abstract
  227. 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
  228. Cerebellar Development and Autism Spectrum Disorder in Tuberous Sclerosis Complex. J Child Neurol. 2015 Dec; 30(14):1954-62. View Abstract
  229. 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
  230. Developing therapies for spinal muscular atrophy. Ann N Y Acad Sci. 2016 02; 1366(1):5-19. View Abstract
  231. Cerebellar associative sensory learning defects in five mouse autism models. Elife. 2015 Jul 09; 4:e06085. View Abstract
  232. Tuberous Sclerosis: A New Frontier in Targeted Treatment of Autism. Neurotherapeutics. 2015 Jul; 12(3):572-83. View Abstract
  233. Therapeutic Advances in Autism and Other Neurodevelopmental Disorders. Neurotherapeutics. 2015 Jul; 12(3):519-20. View Abstract
  234. 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
  235. The Circadian Protein BMAL1 Regulates Translation in Response to S6K1-Mediated Phosphorylation. Cell. 2015 May 21; 161(5):1138-1151. View Abstract
  236. Pediatric Neurology 2014 Trainee Publication Award Winner: Dr. Mitchel T. Williams. Pediatr Neurol. 2015 Aug; 53(2):103-4. View Abstract
  237. Tuberous sclerosis complex. Pediatr Clin North Am. 2015 Jun; 62(3):633-48. View Abstract
  238. Autism and the synapse: emerging mechanisms and mechanism-based therapies. Curr Opin Neurol. 2015 Apr; 28(2):91-102. View Abstract
  239. Vigabatrin can enhance electroretinographic responses in pigmented and albino rats. Doc Ophthalmol. 2015 Aug; 131(1):1-11. View Abstract
  240. Altered Structural Brain Networks in Tuberous Sclerosis Complex. Cereb Cortex. 2016 May; 26(5):2046-58. View Abstract
  241. 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
  242. Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes. Handb Clin Neurol. 2015; 132:3-8. View Abstract
  243. A vascular model of Tsc1 deficiency accelerates renal tumor formation with accompanying hemangiosarcomas. Mol Cancer Res. 2015 Mar; 13(3):548-55. View Abstract
  244. The neurology of mTOR. Neuron. 2014 Oct 22; 84(2):275-91. View Abstract
  245. Tuberous sclerosis associated neuropsychiatric disorders (TAND) and the TAND Checklist. Pediatr Neurol. 2015 Jan; 52(1):25-35. View Abstract
  246. Parkinson's disease: A disorder of axonal mitophagy? Mov Disord. 2014 Nov; 29(13):1582. View Abstract
  247. Somatic mutations in cerebral cortical malformations. N Engl J Med. 2014 Aug 21; 371(8):733-43. View Abstract
  248. Gene therapy for childhood neurological disease. Pediatr Neurol. 2014 Nov; 51(5):595-6. View Abstract
  249. Both maternal and pup genotype influence ultrasonic vocalizations and early developmental milestones in tsc2 (+/-) mice. Epilepsy Res Treat. 2014; 2014:784137. View Abstract
  250. SMN regulates axonal local translation via miR-183/mTOR pathway. Hum Mol Genet. 2014 Dec 01; 23(23):6318-31. View Abstract
  251. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract
  252. Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex. Neurology. 2014 Jul 08; 83(2):160-8. View Abstract
  253. RASA1 functions in EPHB4 signaling pathway to suppress endothelial mTORC1 activity. J Clin Invest. 2014 Jun; 124(6):2774-84. View Abstract
  254. 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
  255. Neuronal Tsc1/2 complex controls autophagy through AMPK-dependent regulation of ULK1. Hum Mol Genet. 2014 Jul 15; 23(14):3865-74. View Abstract
  256. 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
  257. Trust but verify: the introduction of plagiarism detection software. Pediatr Neurol. 2014 Apr; 50(4):287. View Abstract
  258. Mechanism-based treatment in tuberous sclerosis complex. Pediatr Neurol. 2014 Apr; 50(4):290-6. View Abstract
  259. 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
  260. Diffusion tensor imaging and related techniques in tuberous sclerosis complex: review and future directions. Future Neurol. 2013 Sep; 8(5):583-597. View Abstract
  261. 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
  262. 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
  263. 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
  264. A magnetic resonance imaging study of cerebellar volume in tuberous sclerosis complex. Pediatr Neurol. 2013 Feb; 48(2):105-10. View Abstract
  265. Sturge-Weber syndrome: clinical and radiological correlates in 86 patients. Ideggyogy Sz. 2013 Jan 30; 66(1-2):53-7. View Abstract
  266. Fragile X syndrome therapeutics: translation, meet translational medicine. Neuron. 2013 Jan 23; 77(2):212-3. View Abstract
  267. Characterizing the distribution of anisotropic micro-structural environments with diffusion-weighted imaging (DIAMOND). Med Image Comput Comput Assist Interv. 2013; 16(Pt 3):518-26. View Abstract
  268. Prenatal rapamycin results in early and late behavioral abnormalities in wildtype C57BL/6 mice. Behav Genet. 2013 Jan; 43(1):51-9. View Abstract
  269. Atypical face processing in children with tuberous sclerosis complex. J Child Neurol. 2013 Dec; 28(12):1569-76. View Abstract
  270. Autistic-like behaviour and cerebellar dysfunction in Purkinje cell Tsc1 mutant mice. Nature. 2012 Aug 30; 488(7413):647-51. View Abstract
  271. Graded loss of tuberin in an allelic series of brain models of TSC correlates with survival, and biochemical, histological and behavioral features. Hum Mol Genet. 2012 Oct 01; 21(19):4286-300. View Abstract
  272. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View Abstract
  273. Impaired language pathways in tuberous sclerosis complex patients with autism spectrum disorders. Cereb Cortex. 2013 Jul; 23(7):1526-32. View Abstract
  274. Endothelial cell-fatty acid binding protein 4 promotes angiogenesis: role of stem cell factor/c-kit pathway. Angiogenesis. 2012 Sep; 15(3):457-68. View Abstract
  275. Targeted treatment trials for tuberous sclerosis and autism: no longer a dream. Curr Opin Neurobiol. 2012 Oct; 22(5):895-901. View Abstract
  276. Micro-duplications of 1q32.1 associated with neurodevelopmental delay. Eur J Med Genet. 2012 Feb; 55(2):145-50. View Abstract
  277. A genetic model to dissect the role of Tsc-mTORC1 in neuronal cultures. Methods Mol Biol. 2012; 821:393-405. View Abstract
  278. Loss of white matter microstructural integrity is associated with adverse neurological outcome in tuberous sclerosis complex. Acad Radiol. 2012 Jan; 19(1):17-25. View Abstract
  279. Registration and analysis of white matter group differences with a multi-fiber model. Med Image Comput Comput Assist Interv. 2012; 15(Pt 3):313-20. View Abstract
  280. Translational research: Rett syndrome and tuberous sclerosis complex. Curr Opin Pediatr. 2011 Dec; 23(6):633-9. View Abstract
  281. Regulable neural progenitor-specific Tsc1 loss yields giant cells with organellar dysfunction in a model of tuberous sclerosis complex. Proc Natl Acad Sci U S A. 2011 Nov 08; 108(45):E1070-9. View Abstract
  282. Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? Epilepsia. 2011 Oct; 52 Suppl 8:28-30. View Abstract
  283. NMDA mediated contextual conditioning changes miRNA expression. PLoS One. 2011; 6(9):e24682. View Abstract
  284. Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. Epilepsia. 2011 Nov; 52(11):1956-65. View Abstract
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  286. Pediatric epileptology. Epilepsy Behav. 2011 Sep; 22(1):32-7. View Abstract
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  288. TSC1/TSC2 signaling in the CNS. FEBS Lett. 2011 Apr 06; 585(7):973-80. View Abstract
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  290. MicroRNA profiling reveals two distinct p53-related human pluripotent stem cell states. Cell Stem Cell. 2010 Dec 03; 7(6):671-81. View Abstract
  291. Gestational immune activation and Tsc2 haploinsufficiency cooperate to disrupt fetal survival and may perturb social behavior in adult mice. Mol Psychiatry. 2012 Jan; 17(1):62-70. View Abstract
  292. EphB-mediated degradation of the RhoA GEF Ephexin5 relieves a developmental brake on excitatory synapse formation. Cell. 2010 Oct 29; 143(3):442-55. View Abstract
  293. Eph receptor and mTOR pathway crosstalk: implications for cancer. Cell Cycle. 2010 Jun 01; 9(11):2053-4. View Abstract
  294. ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS. Proc Natl Acad Sci U S A. 2010 Mar 02; 107(9):4153-8. View Abstract
  295. Diffusion features of white matter in tuberous sclerosis with tractography. Pediatr Neurol. 2010 Feb; 42(2):101-6. View Abstract
  296. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nat Neurosci. 2010 Feb; 13(2):163-72. View Abstract
  297. Maximum a posteriori estimation of isotropic high-resolution volumetric MRI from orthogonal thick-slice scans. Med Image Comput Comput Assist Interv. 2010; 13(Pt 2):109-16. View Abstract
  298. The syndrome of perisylvian polymicrogyria with congenital arthrogryposis. Brain Dev. 2010 Aug; 32(7):550-5. View Abstract
  299. Murine Glut-1 transporter haploinsufficiency: postnatal deceleration of brain weight and reactive astrocytosis. Neurobiol Dis. 2009 Oct; 36(1):60-9. View Abstract
  300. Tuberous sclerosis complex activity is required to control neuronal stress responses in an mTOR-dependent manner. J Neurosci. 2009 May 06; 29(18):5926-37. View Abstract
  301. Promoting axon regeneration in the adult CNS by modulation of the PTEN/mTOR pathway. Science. 2008 Nov 07; 322(5903):963-6. View Abstract
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  303. Long-term results utilizing the unroofing technique in treating hydatid cysts of the liver. Surg Today. 2008; 38(9):801-6. View Abstract
  304. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome. Science. 2008 Aug 08; 321(5890):839-43. View Abstract
  305. Response of a neuronal model of tuberous sclerosis to mammalian target of rapamycin (mTOR) inhibitors: effects on mTORC1 and Akt signaling lead to improved survival and function. J Neurosci. 2008 May 21; 28(21):5422-32. View Abstract
  306. Loss of the tuberous sclerosis complex tumor suppressors triggers the unfolded protein response to regulate insulin signaling and apoptosis. Mol Cell. 2008 Mar 14; 29(5):541-51. View Abstract
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  308. Characterization of autism in young children with tuberous sclerosis complex. J Child Neurol. 2008 May; 23(5):520-5. View Abstract
  309. Cardiac rhabdomyoma in tuberous sclerosis: hyperactive Erk signaling. Int J Cardiol. 2009 Feb 06; 132(1):145-7. View Abstract
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