Publications

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Complete research profile

Recent publications

  • A generalized epilepsy network derived from brain abnormalities and deep brain stimulation
    A generalized epilepsy network derived from brain abnormalities and deep brain stimulationJi, G. J., Fox, M. D., Morton-Dutton, M., Wang, Y., Sun, J., Hu, P., Chen, X., Jiang, Y., Zhu, C., Tian, Y., Zhang, Z., Akkad, H., Nordberg, J., Joutsa, J., Torres Diaz, C. V., Groppa, S., Gonzalez-Escamilla, G., Toledo, M. D., Dalic, L. J. & Archer, J. S. & 24 others, Selway, R., Stavropoulos, I., Valentin, A., Yang, J., Isbaine, F., Gross, R. E., Park, S., Gregg, N. M., Cukiert, A., Middlebrooks, E. H., Dosenbach, N. U. F., Turner, J., Warren, A. E. L., Chua, M. M. J., Cohen, […]
  • Childhood adversity in parents of patients with pediatric multiple sclerosis
    Childhood adversity in parents of patients with pediatric multiple sclerosisO'Neill, K. A., Charvet, L., George, A., Waltz, M., Casper, T. C., Benson, L., Gorman, M., Mar, S., Ness, J., Schreiner, T., Waubant, E., Weinstock-Guttman, B., Wheeler, Y., Ortiz, R. & Krupp, L. B., Jun 2025, In: Multiple Sclerosis and Related Disorders. 98, 106424.Research output: Contribution to journal › Article › peer-review
  • Frequently asked questions and answers on Visually-Provoked (Photosensitive) epilepsy
    Frequently asked questions and answers on Visually-Provoked (Photosensitive) epilepsyKasteleijn-Nolst Trenité, D., Acharya, J., Baumer, F. M., Beran, R., Craiu, D., French, J., Parisi, P., Solodar, J., Szaflarski, J. P., Takahashi, Y., Thio, L. L., Tolchin, B., Wilkins, A. & Fisher, R. S., Jun 2025, In: Epilepsy and Behavior Reports. 30, 100753.Research output: Contribution to journal › Review article › peer-review
  • Erratum: Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders (Neurology (2025) 104 5 DOI: 10.1212/WNL.0000000000210275.)
    Erratum: Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders (Neurology (2025) 104 5 DOI: 10.1212/WNL.0000000000210275.)Cole, J. J., Williams, J., Sellitto, A. D., Baratta, L. R., Huecker, J. B., Baldridge, D., Kannampallil, T., Gurnett, C. A. & Balls-Berry, J. E., May 13 2025, In: Neurology. 104, 9, p. e213583Research output: Contribution to journal › Comment/debate
  • Limited early IVIG for the treatment of pediatric myelin oligodendrocyte glycoprotein antibody-associated disease
    Limited early IVIG for the treatment of pediatric myelin oligodendrocyte glycoprotein antibody-associated diseaseMacRae, R., Race, J., Schuette, A., Waltz, M., Casper, T. C., Rose, J., Abrams, A., Rensel, M., Waubant, E., Virupakshaiah, A., Schoeps, V., O'Neill, K., Ness, J., Wheeler, Y., Shukla, N., Mar, S., Rodriguez, M., Chitnis, T., Gorman, M. & Benson, L., May 2025, In: Multiple Sclerosis and Related Disorders. 97, 106345.Research output: Contribution to journal › Article › peer-review
  • Differentiating Pathology of Acute Disseminated Encephalomyelitis From Multiple Sclerosis in Children Using Diffusion Magnetic Resonance Biomarkers
    Differentiating Pathology of Acute Disseminated Encephalomyelitis From Multiple Sclerosis in Children Using Diffusion Magnetic Resonance BiomarkersPehlivan, E., Mwangi, M. K., Abraham, V., Mange, U., Song, S. K., Sun, P. & Mar, S. S., May 2025, In: Pediatric Neurology. 166, p. 88-92 5 p.Research output: Contribution to journal › Article › peer-review
  • Disuse-driven plasticity in the human thalamus and putamen
    Disuse-driven plasticity in the human thalamus and putamenChauvin, R. J., Newbold, D. J., Nielsen, A. N., Miller, R. L., Krimmel, S. R., Metoki, A., Wang, A., Van, A. N., Montez, D. F., Marek, S., Suljic, V., Baden, N. J., Ramirez-Perez, N., Scheidter, K. M., Monk, J. S., Whiting, F. I., Adeyemo, B., Roland, J. L., Snyder, A. Z. & Kay, B. & 4 others, Raichle, M. E., Laumann, T. O., Gordon, E. & Dosenbach, N. U. F., Apr 22 2025, In: Cell Reports. 44, 4, 115570.Research output: Contribution to journal › Article › peer-review
  • Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer
    Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancerNg, J. K., Chen, Y., Akinwe, T. M., Heins, H. B., Mehinovic, E., Chang, Y., Gutmann, D. H., Gurnett, C. A., Payne, Z. L., Manuel, J. G., Karchin, R. & Turner, T. N., Apr 9 2025, In: Cell Genomics. 5, 4, 100807.Research output: Contribution to journal › Article › peer-review
  • Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology Patients
    Social Determinants of Genetics Referral and Completion Rates Among Pediatric Neurology PatientsCole, J. J., Sellitto, A. D., Baratta, L. R., Huecker, J. B., Balls-Berry, J. E. & Gurnett, C. A., Apr 2025, In: Pediatric Neurology. 165, p. 78-86 9 p.Research output: Contribution to journal › Article › peer-review
  • Precision preclinical modeling to advance cancer treatment
    Precision preclinical modeling to advance cancer treatmentGutmann, D. H., Boehm, J. S., Karlsson, E. K., Padron, E., Seshadri, M., Wallis, D. & Snyder, J. C., Apr 1 2025, In: Journal of the National Cancer Institute. 117, 4, p. 586-594 9 p.Research output: Contribution to journal › Review article › peer-review
  • Sequence variants in HECTD1 result in a variable neurodevelopmental disorder
    Sequence variants in HECTD1 result in a variable neurodevelopmental disorderZerafati-Jahromi, G., Oxman, E., Hoang, H., Charng, W. L., Kotla, T., Yuan, W., Ishibashi, K., Sebaoui, S., Luedtke, K., Winrow, B., Ganetzky, R. D., Ruiz, A., Manso-Basúz, C., Spataro, N., Kannu, P., Athey, T., Peroutka, C., Barnes, C., Sidlow, R. & Anadiotis, G. & 34 others, Magnussen, K., Valenzuela, I., Moles-Fernandez, A., Berger, S., Grant, C. L., Vilain, E., Arnadottir, G. A., Sulem, P., Sulem, T. S., Stefansson, K., Massey, S., Ginn, N., Poduri, A., D'Gama, A. M., Valentine, R., Trowbridge, S. K., Murali, C. N., Franciskovich, R., Tran, Y., Webb, […]
  • Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
    Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrumThe Undiagnosed Diseases Network, Mar 6 2025, In: American journal of human genetics. 112, 3, p. 554-571 18 p.Research output: Contribution to journal › Article › peer-review
  • Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1
    Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1Symposium on Atypical Neurofbroma: State of the Science Members, Mar 1 2025, In: Neuro-oncology. 27, 3, p. 616-624 9 p.Research output: Contribution to journal › Review article › peer-review
  • Unilateral Facial Lesion in an Infant With Known Vermian Hypoplasia
    Unilateral Facial Lesion in an Infant With Known Vermian HypoplasiaMarshall, C., Shah, E., Siegel, L., Riley, M., Shmuylovich, L., Mian, A., Smyser, C. D. & Marsala, L. P., Mar 2025, In: NeoReviews. 26, 3, p. e186-e190Research output: Contribution to journal › Review article › peer-review
  • Association of Social Determinants of Health with Genetic Test Request and Completion Rates in Children with Neurologic Disorders
    Association of Social Determinants of Health with Genetic Test Request and Completion Rates in Children with Neurologic DisordersCole, J. J., Williams, J. P., Sellitto, A. D., Baratta, L. R., Huecker, J. B., Baldridge, D., Kannampallil, T., Gurnett, C. A. & Balls-Berry, J. E., Feb 12 2025, In: Neurology. 104, 5, e210275.Research output: Contribution to journal › Article › peer-review
  • Association between Sun Exposure and Risk of Relapse in Pediatric-Onset Multiple Sclerosis
    Association between Sun Exposure and Risk of Relapse in Pediatric-Onset Multiple SclerosisThe US Network of Pediatric Multiple Sclerosis Centers, Feb 12 2025, In: Neurology: Neuroimmunology and NeuroInflammation. 12, 2, e200375.Research output: Contribution to journal › Article › peer-review
  • Fiber- and acetate-mediated modulation of MHC-II expression on intestinal epithelium protects from Clostridioides difficile infection
    Fiber- and acetate-mediated modulation of MHC-II expression on intestinal epithelium protects from Clostridioides difficile infectionFachi, J. L., de Oliveira, S., Trsan, T., Penati, S., Gilfillan, S., Cao, S., Ribeiro Castro, P., Fernandes, M. F., Hyrc, K. L., Liu, X., Rodrigues, P. F., Bhattarai, B., Layden, B. T., Vinolo, M. A. R. & Colonna, M., Feb 12 2025, In: Cell Host and Microbe. 33, 2, p. 235-251.e7Research output: Contribution to journal › Article › peer-review
  • Study of the Association Between Menarche and Disease Course in Pediatric Multiple Sclerosis
    Study of the Association Between Menarche and Disease Course in Pediatric Multiple SclerosisKrysko, K. M., Waltz, M., Chitnis, T., Weinstock-Guttman, B., Aaen, G. S., Belman, A., Benson, L. A., Gorman, M. P., Lotze, T. E., Mar, S. S., Moodley, M., Ness, J. M., Rensel, M., Rodriguez, M., Rose, J. W., Edwards, A. R., Schreiner, T. L., Wheeler, Y. S., Barney, B. J. & Waubant, E. & 2 others, Casper, T. C. & Graves, J. S., Feb 3 2025, In: Neurology. 104, 4, e210213.Research output: Contribution to journal › Article › peer-review
  • Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis
    Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-AnalysisLewis, S. A., Chopra, M., Cohen, J. S., Bain, J. M., Aravamuthan, B., Carmel, J. B., Fahey, M. C., Segel, R., Wintle, R. F., Zech, M., May, H., Haque, N., Fehlings, D., Srivastava, S. & Kruer, M. C., Feb 3 2025, In: JAMA Pediatrics. 179, 2, p. 137-144 8 p.Research output: Contribution to journal › Article › peer-review
  • Evaluating dimensionality reduction of comorbidities for predictive modeling in individuals with neurofibromatosis type 1
    Evaluating dimensionality reduction of comorbidities for predictive modeling in individuals with neurofibromatosis type 1Gupta, A., Hillis, E., Oh, I. Y., Morris, S. M., Abrams, Z., Foraker, R. E., Gutmann, D. H. & Payne, P. R. O., Feb 1 2025, In: JAMIA Open. 8, 1, ooae157.Research output: Contribution to journal › Article › peer-review

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