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American Journal of Human Genetics,
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Metz, K.A., Teng, X., Coppens, I., Lamb, H.M., Wagner, B.E., Rosenfeld, J.A., ..., Jayakar, P., et al (2018). KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Annals of Neurology,
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Hamilton, E.M.C., Tekturk, P., Cialdella, F., ..., MLC Research Group (2018). Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. .
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Chen, C.A., Bosch, D.G.M., Cho ScM, M.T., Rosenfeld, J.A., Shinawi, M., Lewis, R.A., Mann, J., ..., Jayakar, P., et al (2017). CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genetics in Medicine,
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Murray, C.R., Abel, S.N., McClure, M.B., Foster, J. 2nd, Walke, M.I., Jayakar, P., et al (2017). Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic Features.
Journal of Pediatric Genetics,
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Ibrahim, G.M., Sharma, P., Hyslop, A., Guillen, M.R., Morgan, B.R., Wong, S., ..., Jayakar, P., et al (2017). Presurgical thalamocortical connectivity is associated with response to vagus nerve stimulation in children with intractable epilepsy.
Neuroimage. Clinical,
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Russo, A., Lallas, M., Jayakar, P., Miller, I., Hyslop, A., Korman, B., et al (2017). Response: Added value and limitations of electrical source localization.
Epilepsia,
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Russo, A., Jayakar, P., Miller, I., Bhatia, S., Duchowny, M. (2016). A 16-year-old girl with focal seizures and impaired awareness: divergent non-invasive data related to a diffuse epileptogenic network.
Epileptic Disorders,
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Kudr, M., Krsek, P., Maton, B., Malone, S., Jahodova, A., Komarek, V., Jayakar, P., et al (2016). Ictal SPECT is useful in localizing the epileptogenic zone in infants with cortical dysplasia.
Epileptic disorders,
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Russo, A., Lallas, M., Jayakar, P., Miller, I., Hyslop, A., Resnick, T., et al (2016). The diagnostic utility of 3D-ESI rotating and moving dipole methodology in the pre-surgical evaluation of MRI-negative childhood epilepsy due to focal cortical dysplasia.
Epilepsia,
57(9), 1450-1457.
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Russo, A., Jayakar, P., Lallas, M., Miller, I., Hyslop, A., Korman, B., Dunoyer, C., et al (2016). The diagnostic utility of 3D electroencephalography source imaging in pediatric epilepsy surgery.
Epilepsia,
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Bhoj, E.J., Li, D., Harr, M., Edvardson, S., ..., Jayakar, P., et al (2016). Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia.
American journal of human genetics,
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Chen, C.A., Bosch, D.G., Cho, M.T., Rosenfeld, J.A., Shinawi, M., ..., Jayakar, Parul, et al (2016). The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Genetics in Medicine,
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Jayakar, P., Duchowny, M. (2015). MRI-negative refractory focal epilepsy in childhood.
New York, NY.
Cambridge University Press.
MRI-Negative Epilepsy. Evaluation and Surgical Management.
Aguilera, Z.P., Belin, P.J., Cavuoto, K.M., Jayakar, P., McKeown, C.A. (2015). Acquired retinal pigmentary degeneration in a child with 13q deletion syndrome.
Journal of AAPOS,
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Aggarwal, V., Dobrolet, N., Fishberger, S., Zablah, J., Jayakar, P., Ammous, Z. (2015). PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
Annals of pediatric cardiology,
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Krsek, P., Kudr, M., Jahadova, A., Komarek, V., Maton, B., Malone, S., Miller, I., Jayakar, P., Resnick, T., Duchowny, M. (2013). Localizing value of ictal SPECT is comparable to MRI and EEG in children with focal cortical dysplasia.
Epilepsia,
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Bhatia, S., Ahmad, F., Miller, I., Ragheb, J., Morrison, G., Jayakar, P., Duchowny, M. (2013). Surgical treatment of refractory status epilepticus in children.
Journal of Neurosurgery. Pediatrics,
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Krsek, P., Jahodova, A., Kyncl, M., Kudr, M., Komarek, V., Jezdik, P., Jayakar, P., Miller, I., Korman, B., Rey, G., Resnick, T., Duchowny, M. (2013). Predictors of seizure-free outcome after epilepsy surgery for pediatric tuberous sclerosis complex.
Epilepsia,
54(11), 1913-1921.
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Kudr, M., Krsek, P., Maton, B., Malone, S., Jahodova, A., Jezdik, P., Komarek, V., Miller, I., Jayakar, P., Resnick,T., Duchowny, M. (2013). Predictive factors of ictal SPECT findings in paediatric patients with focal cortical dysplasia.
Epileptic Disorder,
15(4), 383-391.
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Winters, K.A., Jiang, Z., Xu, W., Li, S., Ammous, Z., Jayakar, P., Wierenga, J.A. (2012). Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.
American Journal of Medical Genetics. Part A,
158A(11), 2935-2940.
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Spiliopoulos, M., Jayakar, P., Spiliopoulos, D. (2012). Facial dysmorphism and skin manifestations in a patient with inherited systemic hyalinosis.
Journal of Pediatrics,
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Brunetti-Pierri, N., Paciorkowski, A.R., Ciccone, R., ..., Jayakar, P., et al (2011). Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.
European Journal of Human Genetics,
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Kurt, B., Jaeken, J., Van Hove, J., Lagae, L., ..., Jayakar, P., et al (2010). A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
Archives of Neurology,
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van der Knaap, M.S., Lai, V., Kohler, W., Salih, M.A., ..., Jayakar, P., et al (2010). Megalencephalic leukoencephalopathy with cysts without MLC1 defect.
Annals of Neurology,
67(6), 834-837.
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Wang, B.T., Hemmat, M., Jayakar, P., Boyar, F., Chan, P., El Naggar, M., Anguiano, A. (2010). Paternal mosaic inv(20) resulting in a recombinant chromosome 20 in two siblings.
Pediatrics International,
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Horvath, R., Kemp, J.P., Tuppen, H.A., Hudson, ..., Jayakar, P., et al (2009). Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.
Brain,
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Morales, A., Wierenga, A., Cuthbert, C., Sacharow, S., Jayakar, P., Velazquez, D., Loring, J., Barbouth, D. (2009). Expanded newborn screening in Puerto Rico and the US Virgin Islands: education and barriers assessment.
Genetics in Medicine,
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Oshima, J., Magner, D.B., Lee, J.A., Breman, A.M., ..., Jayakar, P., et al (2009). Regional genomic instability predisposes to complex dystrophin gene rearrangements.
Human Genetics,
126(3), 411-423.
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Krsek, P., Maton, B., Jayakar, P., Dean, P., Korman, B., Rey, G., et al (2009). Incomplete resection of focal cortical dysplasia is the main predictor of poor surgical outcome.
Neurology,
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Bornstein, B., Area, E., Flanigan, K.M., Ganesh, J., Jayakar, P., et al (2008). Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Neuromuscular Disorders,
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