Stephanie Robert, MD/PhD

• Aladine Elsamadicy
• Anita Huttner
• Charles Matouk
• Dominick Tuason
• Ellen J. Hoffman
• Engin Deniz
• Francesc Lopez-Giraldez
• Haifan Lin
• James Knight
• Kanat Yalcin
• Ketu Mishra-Gorur
• Murat Gunel
• Nanthiya Sujijantarat
• Nikhil S. Malvankar
• Suel-Kee Kim
• Veronica Chiang
• Yonghyun Ha
• Zeynep Erson Omay

Astrocytes; Brain Neoplasms; Spinal Cord Neoplasms

• Management of dynamic cervical kyphosis with dorsal epidural lipomatosis: a Hirayama disease variant? Illustrative caseKundishora A, Reeves B, Moreno-De-Luca A, Hong C, Robert S, Elsamadicy A, Tuason D, DiLuna M. Management of dynamic cervical kyphosis with dorsal epidural lipomatosis: a Hirayama disease variant? Illustrative case. Journal Of Neurosurgery Case Lessons 2023, 5: case22481. PMID: 36880508, PMCID: PMC10550661, DOI: 10.3171/case22481.
• A neural stem cell paradigm of pediatric hydrocephalus.Duy PQ, Rakic P, Alper SL, Robert SM, Kundishora AJ, Butler WE, Walsh CA, Sestan N, Geschwind DH, Jin SC, Kahle KT. A neural stem cell paradigm of pediatric hydrocephalus. Cerebral Cortex 2022, 33: 4262-4279. PMID: 36097331, PMCID: PMC10110448, DOI: 10.1093/cercor/bhac341.
• Correction: Genomic profiling of sporadic multiple meningiomasErson-Omay EZ, Vetsa S, Vasandani S, Barak T, Nadar A, Marianayagam NJ, Yalcin K, Miyagishima D, Aguilera SM, Robert S, Mishra-Gorur K, Fulbright RK, McGuone D, Günel M, Moliterno J. Correction: Genomic profiling of sporadic multiple meningiomas. BMC Medical Genomics 2022, 15: 131. PMID: 35698142, PMCID: PMC9190101, DOI: 10.1186/s12920-022-01273-1.
• Rare pathogenic variants in WNK3 cause X-linked intellectual disabilityKüry S, Zhang J, Besnard T, Caro-Llopis A, Zeng X, Robert SM, Josiah SS, Kiziltug E, Denommé-Pichon AS, Cogné B, Kundishora AJ, Hao LT, Li H, Stevenson RE, Louie RJ, Deb W, Torti E, Vignard V, McWalter K, Raymond FL, Rajabi F, Ranza E, Grozeva D, Coury SA, Blanc X, Brischoux-Boucher E, Keren B, Õunap K, Reinson K, Ilves P, Wentzensen IM, Barr EE, Guihard SH, Charles P, Seaby EG, Monaghan KG, Rio M, van Bever Y, van Slegtenhorst M, Chung WK, Wilson A, Quinquis D, Bréhéret F, Retterer K, Lindenbaum P, Scalais E, Rhodes L, Stouffs K, Pereira EM, Berger SM, Milla SS, Jaykumar AB, Cobb MH, Panchagnula S, Duy PQ, Vincent M, Mercier S, Gilbert-Dussardier B, Le Guillou X, Audebert-Bellanger S, Odent S, Schmitt S, Boisseau P, Bonneau D, Toutain A, Colin E, Pasquier L, Redon R, Bouman A, Rosenfeld JA, Friez MJ, Pérez-Peña H, Akhtar Rizvi SR, Haider S, Antonarakis SE, Schwartz CE, Martínez F, Bézieau S, Kahle KT, Isidor B. Rare pathogenic variants in WNK3 cause X-linked intellectual disability. Genetics In Medicine 2022, 24: 1941-1951. PMID: 35678782, DOI: 10.1016/j.gim.2022.05.009.
• Genomic profiling of sporadic multiple meningiomasErson-Omay EZ, Vetsa S, Vasandani S, Barak T, Nadar A, Marianayagam NJ, Yalcin K, Miyagishima D, Aguilera SM, Robert S, Mishra-Gorur K, Fulbright RK, McGuone D, Günel M, Moliterno J. Genomic profiling of sporadic multiple meningiomas. BMC Medical Genomics 2022, 15: 112. PMID: 35568945, PMCID: PMC9107270, DOI: 10.1186/s12920-022-01258-0.
• Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalusDuy PQ, Weise SC, Marini C, Li XJ, Liang D, Dahl PJ, Ma S, Spajic A, Dong W, Juusola J, Kiziltug E, Kundishora AJ, Koundal S, Pedram MZ, Torres-Fernández LA, Händler K, De Domenico E, Becker M, Ulas T, Juranek SA, Cuevas E, Hao LT, Jux B, Sousa AMM, Liu F, Kim SK, Li M, Yang Y, Takeo Y, Duque A, Nelson-Williams C, Ha Y, Selvaganesan K, Robert SM, Singh AK, Allington G, Furey CG, Timberlake AT, Reeves BC, Smith H, Dunbar A, DeSpenza T, Goto J, Marlier A, Moreno-De-Luca A, Yu X, Butler WE, Carter BS, Lake EMR, Constable RT, Rakic P, Lin H, Deniz E, Benveniste H, Malvankar NS, Estrada-Veras JI, Walsh CA, Alper SL, Schultze JL, Paeschke K, Doetzlhofer A, Wulczyn FG, Jin SC, Lifton RP, Sestan N, Kolanus W, Kahle KT. Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. Nature Neuroscience 2022, 25: 458-473. PMID: 35379995, PMCID: PMC9664907, DOI: 10.1038/s41593-022-01043-3.
• 374 Multi-omic Analysis Identifies a SPAK Kinase-regulated Ensemble of Choroid Plexus Ion Transport Proteins Relevant for Post-infectious HydrocephalusRobert S, Reeves B, Karimy J, Marlier A, Kiziltug E, DeSpenza T, Singh A, Allington G, Phan D, Zhang J, Kahle K. 374 Multi-omic Analysis Identifies a SPAK Kinase-regulated Ensemble of Choroid Plexus Ion Transport Proteins Relevant for Post-infectious Hydrocephalus. Neurosurgery 2022, 68: 89-89. DOI: 10.1227/neu.0000000000001880_374.
• Correction to: The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implicationsRobert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. Correction to: The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications. Journal Of Neuro-Oncology 2021, 156: 215-215. PMID: 34967924, PMCID: PMC8816771, DOI: 10.1007/s11060-021-03937-x.
• The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implicationsRobert SM, Vetsa S, Nadar A, Vasandani S, Youngblood MW, Gorelick E, Jin L, Marianayagam N, Erson-Omay EZ, Günel M, Moliterno J. The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications. Journal Of Neuro-Oncology 2021, 156: 205-214. PMID: 34846640, PMCID: PMC8816740, DOI: 10.1007/s11060-021-03874-9.
• Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus.Allington G, Duy PQ, Ryou J, Singh A, Kiziltug E, Robert SM, Kundishora AJ, King S, Haider S, Kahle KT, Jin SC. Genomic approaches to improve the clinical diagnosis and management of patients with congenital hydrocephalus. Journal Of Neurosurgery Pediatrics 2021, 29: 168-177. PMID: 34715668, DOI: 10.3171/2021.8.peds21368.
• PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targetsDeSpenza T, Carlson M, Panchagnula S, Robert S, Duy PQ, Mermin-Bunnell N, Reeves BC, Kundishora A, Elsamadicy AA, Smith H, Ocken J, Alper SL, Jin SC, Hoffman EJ, Kahle KT. PTEN mutations in autism spectrum disorder and congenital hydrocephalus: developmental pleiotropy and therapeutic targets. Trends In Neurosciences 2021, 44: 961-976. PMID: 34625286, PMCID: PMC8692171, DOI: 10.1016/j.tins.2021.08.007.
• DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya DiseaseKundishora AJ, Peters ST, Pinard A, Duran D, Panchagnula S, Barak T, Miyagishima DF, Dong W, Smith H, Ocken J, Dunbar A, Nelson-Williams C, Haider S, Walker RL, Li B, Zhao H, Thumkeo D, Marlier A, Duy PQ, Diab NS, Reeves BC, Robert SM, Sujijantarat N, Stratman AN, Chen YH, Zhao S, Roszko I, Lu Q, Zhang B, Mane S, Castaldi C, López-Giráldez F, Knight JR, Bamshad MJ, Nickerson DA, Geschwind DH, Chen SL, Storm PB, Diluna ML, Matouk CC, Orbach DB, Alper SL, Smith ER, Lifton RP, Gunel M, Milewicz DM, Jin SC, Kahle KT. DIAPH1 Variants in Non–East Asian Patients With Sporadic Moyamoya Disease. JAMA Neurology 2021, 78: 993-1003. PMID: 34125151, PMCID: PMC8204259, DOI: 10.1001/jamaneurol.2021.1681.
• Commentary: Feasibility and Morbidity of Magnetic Resonance Imaging-Guided Stereotactic Laser Ablation of Deep Cerebral Cavernous Malformations: A Report of 4 CasesRobert SM, Chiang VL. Commentary: Feasibility and Morbidity of Magnetic Resonance Imaging-Guided Stereotactic Laser Ablation of Deep Cerebral Cavernous Malformations: A Report of 4 Cases. Neurosurgery 2021, 89: e209-e210. PMID: 34293138, DOI: 10.1093/neuros/nyab262.
• Inflammatory hydrocephalusRobert SM, Reeves BC, Marlier A, Duy PQ, DeSpenza T, Kundishora A, Kiziltug E, Singh A, Allington G, Alper SL, Kahle KT. Inflammatory hydrocephalus. Child's Nervous System 2021, 37: 3341-3353. PMID: 34164718, DOI: 10.1007/s00381-021-05255-z.
• Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelinationOmer S, Jin SC, Koumangoye R, Robert SM, Duran D, Nelson‐Williams C, Huttner A, DiLuna M, Kahle KT, Delpire E. Protein kinase D1 variant associated with human epilepsy and peripheral nerve hypermyelination. Clinical Genetics 2021, 100: 176-186. PMID: 33904160, DOI: 10.1111/cge.13973.
• Stem Cell Therapy for StrokeRobert S, Matouk C. Stem Cell Therapy for Stroke. 2020, 331-345. DOI: 10.1007/978-3-030-56954-9_15.
• Radiation Necrosis Following the Radiosurgical Treatment of Brain MetastasesRobert S, Chiang V. Radiation Necrosis Following the Radiosurgical Treatment of Brain Metastases. 2020, 393-405. DOI: 10.1007/978-3-030-42958-4_28.
• A Severe Episode of Hemolytic Anemia After Amoxicillin Exposure in A G6PD Deficient Patient.Blanquicett CJ, Raavi T, Robert SM. A Severe Episode of Hemolytic Anemia After Amoxicillin Exposure in A G6PD Deficient Patient. Archives Of Clinical And Medical Case Reports 2019, 3: 104-112. PMID: 31321386, PMCID: PMC6637955, DOI: 10.26502/acmcr.96550068.
• Peritumoral Epilepsy☆Robert S, Sontheimer H. Peritumoral Epilepsy☆. 2017 DOI: 10.1016/b978-0-12-809324-5.00069-9.
• SLC7A11 expression is associated with seizures and predicts poor survival in patients with malignant gliomaRobert SM, Buckingham SC, Campbell SL, Robel S, Holt KT, Ogunrinu-Babarinde T, Warren PP, White DM, Reid MA, Eschbacher JM, Berens ME, Lahti AC, Nabors LB, Sontheimer H. SLC7A11 expression is associated with seizures and predicts poor survival in patients with malignant glioma. Science Translational Medicine 2015, 7: 289ra86. PMID: 26019222, PMCID: PMC4503260, DOI: 10.1126/scitranslmed.aaa8103.
• GABAergic disinhibition and impaired KCC2 cotransporter activity underlie tumor‐associated epilepsyCampbell SL, Robel S, Cuddapah VA, Robert S, Buckingham SC, Kahle KT, Sontheimer H. GABAergic disinhibition and impaired KCC2 cotransporter activity underlie tumor‐associated epilepsy. Glia 2014, 63: 23-36. PMID: 25066727, PMCID: PMC4237714, DOI: 10.1002/glia.22730.
• Disruption of astrocyte–vascular coupling and the blood–brain barrier by invading glioma cellsWatkins S, Robel S, Kimbrough IF, Robert SM, Ellis-Davies G, Sontheimer H. Disruption of astrocyte–vascular coupling and the blood–brain barrier by invading glioma cells. Nature Communications 2014, 5: 4196. PMID: 24943270, PMCID: PMC4127490, DOI: 10.1038/ncomms5196.
• A proinvasive role for the Ca2+‐activated K+ channel KCa3.1 in malignant gliomaTurner KL, Honasoge A, Robert SM, McFerrin MM, Sontheimer H. A proinvasive role for the Ca2+‐activated K+ channel KCa3.1 in malignant glioma. Glia 2014, 62: 971-981. PMID: 24585442, PMCID: PMC4006152, DOI: 10.1002/glia.22655.
• Role of glutamate transporters in redox homeostasis of the brainRobert SM, Ogunrinu-Babarinde T, Holt KT, Sontheimer H. Role of glutamate transporters in redox homeostasis of the brain. Neurochemistry International 2014, 73: 181-191. PMID: 24418113, PMCID: PMC4058393, DOI: 10.1016/j.neuint.2014.01.001.
• Glutamate transporters in the biology of malignant gliomasRobert SM, Sontheimer H. Glutamate transporters in the biology of malignant gliomas. Cellular And Molecular Life Sciences 2013, 71: 1839-1854. PMID: 24281762, PMCID: PMC3999209, DOI: 10.1007/s00018-013-1521-z.