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| 36799992 | Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. | Acta Neuropathol | 2023 |
| 36307217 | Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the Gene. | Neurology | 2023 |
| 38037182 | H3K27-altered diffuse midline gliomas with MAPK pathway alterations: Prognostic and therapeutic implications. | | 2023 |
| 37723596 | Non-vascular intracranial lesions in three children with PHACE association. | | 2023 |
| 37872450 | Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. | Nat Genet | 2023 |
| 37609192 | A collaboration between immune cells and the choroid plexus epithelium in brain inflammation. | | 2023 |
| 36748830 | Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings. | | 2023 |
| 35188915 | Spokes of Wheel in Muscle Biopsy. | Journal of Clinical Neuromuscular Disease | 2022 |
| 35441233 | Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. | Brain | 2022 |
| 36057740 | PD-L1 and PD-1 expression in pediatric central nervous system germ cell tumors. | Modern Pathology | 2022 |
| 35322202 | Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development. | Cell Death Differ | 2022 |
| 34854542 | Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. | American Journal of Medical Genetics, Part A | 2022 |
| 34487404 | Spatiotemporal changes in diffusivity and anisotropy in fetal brain tractography. | Hum Brain Mapp | 2021 |
| 33634562 | Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. | American Journal of Medical Genetics, Part A | 2021 |
| 32692439 | Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. | Histopathology | 2021 |
| 33051600 | Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. | Mod Pathol | 2021 |
| 31857255 | A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. | Eur J Med Genet | 2020 |
| 31353853 | White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. | Ann Clin Transl Neurol | 2019 |
| 31571114 | Increasing value of autopsies in patients with brain tumors in the molecular era. | J Neurooncol | 2019 |
| 30688039 | Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. | Mol Genet Genomic Med | 2019 |
| 31061920 | Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine. | JACC Basic Transl Sci | 2019 |
| 29679388 | Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. | Ann Neurol | 2018 |
| 28540636 | GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. | JIMD Reports | 2018 |
| 30295794 | Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System. | J Neuropathol Exp Neurol | 2018 |
| 30044992 | The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. | Cell Rep | 2018 |
| 29758594 | PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours. | Histopathology | 2018 |
| 29301780 | Multiparametric Analysis of Permeability and ADC Histogram Metrics for Classification of Pediatric Brain Tumors by Tumor Grade. | AJNR Am J Neuroradiol | 2018 |
| 29545198 | Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors. | Am J Pathol | 2018 |
| 28104717 | Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. | Neuro Oncol | 2017 |
| 29141672 | A novel GIT2-BRAF fusion in pilocytic astrocytoma. | Diagn Pathol | 2017 |
| 27708273 | The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. | J Hum Genet | 2017 |
| 28299359 | <i>AIFM1</i> mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. | Cold Spring Harb Mol Case Stud | 2017 |
| 26999738 | Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells. | Nat Cell Biol | 2016 |
| 27197761 | Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. | Scientific Reports | 2016 |
| 27148589 | Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-α protein (PMPCA) cause a severe mitochondrial disease. | Cold Spring Harb Mol Case Stud | 2016 |
| 26917586 | EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. | Brain | 2016 |
| 26432846 | Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. | Neurology | 2015 |
| 26008899 | Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. | Journal of Experimental Medicine | 2015 |
| 24413733 | Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. | Nat Genet | 2014 |
| 25667877 | Rasmussen's encephalitis presenting as focal cortical dysplasia. | Epilepsy Behav Case Rep | 2014 |
| 23601014 | Intrasacral meningocele in the pediatric population. | Journal of Neurosurgery: Pediatrics | 2013 |
| 24073750 | The lost art of localization: Franc Ingraham's legacy in pediatric neurosurgery. | Journal of Neurosurgery: Pediatrics | 2013 |
| 22188489 | Rapid reversal of uremic neuropathy following renal transplantation in an adolescent. | Pediatric Transplantation | 2012 |
| 22371254 | Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. | Neurogenetics | 2012 |
| 22405399 | Extradural en-plaque spinal meningioma with intraneural invasion. | World Neurosurgery | 2012 |
| 22986744 | OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells. | Cancer Res | 2012 |
| 23741128 | Primary calcified rhabdoid meningioma of the cranio-cervical junction: A case report and review of literature. | Journal of Craniovertebral Junction and Spine | 2012 |
| 21708040 | Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. | BMC Med Genet | 2011 |
| 21254082 | Pediatric sciatic neuropathy associated with neoplasms. | Muscle Nerve | 2011 |
| 20513101 | Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. | Muscle Nerve | 2010 |