Publications
Sajan, S.A., Gradisch, R., ..., Jayakar, P., et al (2024). De novo variants in GABRA4 are associated with neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
European journal of human genetics,
Ahead of print(), .
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Pingault, V., Neiva-Vaz, C., ..., Jayakar, P., et al (2024). Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum.
European journal of human genetics,
Ahead of print(), .
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Rodriguez, A.M., Schain, K., ..., Jayakar, P., et al (2023). Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.
Clinical care reports,
11(8), e7753.
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Duque Lasio, M.L.., Leshinski, A.C., ..., Jayakar, P., et al (2023). Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Molecular genetics and metabolism,
139(2), 107605.
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Picketts, D., Mirzaa, G., ..., Jayakar, P., et al (2023). Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square,
Preprint (Check), .
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Liu, Z., Xin, B., ..., Jayakar, P., et al (2023). Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Human molecular genetics,
32(20), 2981-2995.
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Liu, Z., Xin, B., ..., Jayakar, P., et al (2023). Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Human molecular genetics,
32(20), 2981-2995.
View in Pubmed
Duque Lasio, M.L., Leshinski, A.C., ..., Jayakar, P (2023). Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.
Molecular genetics and metabolism,
139(2), 107605.
View in Pubmed
Rodriguez, A.M., Schain, K., ..., Jayakar, P., et al (2023). Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype. .
Clinical care reports,
11(8), e7753.
View in Pubmed
Picketts, D., Mirzaa, G., ..., Jayakar, P., et al (2023). Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research Square,
[Preprint](), .
View in Pubmed
Bruel, A., Vitobello, A., ..., Jayakar, P., et al (2022). ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
European journal of human genetics,
30(1), 111-116.
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Minatogawa, M., Unzaki, A., ..., Jayakar, P., et al (2022). Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14).
Nature genetics,
59(9), 865-877.
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Scala, M., Wortmann, S.B., ..., Jayakar, P., et al (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Human mutations,
43(3), 403-419.
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Scala, M., Wortmann, S.B., ..., Jayakar, P., et al (2022). Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Human mutation,
43(3), 403-419.
View in Pubmed
Diaby, V., Babcock, A., ..., Jayakar, P., et al (2022). Real-world economic evaluation of prospective rapid whole-genome sequencing compared to a matched retrospective cohort of critically ill pediatric patients in the United States.
The pharmacogenomics journal,
22(4), 223-229.
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Minatogawa, M., Unzaki, A., ..., Jayakar, P., et al (2022). Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS- CHST14).
Nature genetics,
59(9), 865-877.
View in Pubmed
Bruel, A., Vitobello, A., ..., Jayakar, P., et al (2022). ITSN1: a novel candidate gene involved in autosomal dominant neurodevelopmental disorder spectrum.
European journal of human genetics,
30(1), 111-116.
View in Pubmed
Diaz, J., Fonseca, A.G., ..., Jayakar, P., et al (2021). Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency.
Frontiers in pediatrics,
9(), 750593.
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Nair, D., Li, D., ..., Jayakar, P., et al (2021). Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
HGG Advances,
2(2), 100024.
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Neuser, S., Brechmann, B., ..., Jayakar, P., et al (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Human mutation,
42(6), 762-776.
View in Pubmed
Schnur, R.E., Yousaf, S., ..., Jayakar, P., et al (2021). UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genetics in medicine,
23(9), 1624-1635.
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Cousin, M.A., Creighton, B.A., Jayakar, P., et al (2021). Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nature genetics,
53(7), 1006-1021.
View in Pubmed
Diaz, J., Fonseca, A.G., ..., Jayakar, P., et al (2021). Case Report: The Association of Wilson Disease in a Patient with Ataxia and GLUT-1 Deficiency.
Frontiers in pediatrics,
9(), 750593.
View in Pubmed
Gill, K., Sasaki, J., Jayakar, P., et al (2021). Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.
Cardiology in the young,
31(8), 1275-1282.
View in Pubmed
Nair, D., Li, D., ..., Jayakar, P., et al (2021). Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
HGG Advances,
2(2), 100024.
View in Pubmed
Neuser, S., Brechmann, B., ..., Jayakar, P., et al (2021). Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability.
Human mutation,
42(6), 762-776.
View in Pubmed
Schnur, R.E., Yousaf, S., ..., Jayakar, P., et al (2021). UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly.
Genetics in medicine,
23(9), 1624-1635.
View in Pubmed
McGraw, C.M., Mahida, S., Jayakar, P., et al (2021). Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
Annals of clinical and translational neurology,
8(3), 716-722.
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Gill, K., Sasaki, J., Jayakar, P., et al (2021). Chromosomal microarray detects genetic risks of neurodevelopmental disorders in newborns with congenital heart disease.
Cardiology in the young,
31(8), 1275-1282.
View in Pubmed
Cousin, M.A., Creighton, B.A., Jayakar, P., et al (2021). Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.
Nature genetics,
53(7), 1006-1021.
View in Pubmed
Castilla-Vallmanya, L., Selmer, K.K., ..., Parul, J., et al (2020). Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7.
Genetics in medicine,
22(7), 1215-1226.
View in Pubmed
Febres-Aldana, C., Pelaez, L. ..., Jayakar, P., et al (2020). A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Molecular syndromology,
11(5-6), 320-329.
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Van Dijck, A., Vulto-van Silfhout, A.T., ..., Parul, J. (collaborator) (2019). Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP.
Biological psychiatry,
85(4), 287-297.
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Torti, E., Keren, B., ..., Parul, J., et al (2019). Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.
Genetics in medicine,
21(9), 2036-2042.
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Dyment, D.A., Paulien A Terhal, P.A., ..., Parul, J., et al (2019). De novo substitutions of TRPM3 cause intellectual disability and epilepsy.
European Journal of Human Genetics,
27(10), 1611-1618.
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Cheng, H., Dharmadhikari, A.V., Varland, S., Ma, ..., Jayakar, P., et al (2018). Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
American Journal of Human Genetics,
102(5), 985-994.
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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,
[Epub ahead of print](), .
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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. .
Neurology,
90(16), e1395-e1403.
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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,
19(8), 962.
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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,
6(2), 77-83.
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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,
16(), 634-642.
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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,
58(1), 175-176.
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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,
18(2), 187-194.
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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,
18(4), 384-390.
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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,
57(1), 24-31.
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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,
98(4), 782-788.
View in Pubmed
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,
18(11), 1143-1150.
View in Pubmed
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,
19(5), 482-484.
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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,
8(2), 153-156.
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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,
54(2), 351-358.
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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,
12(4), 360-366.
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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.
View in Pubmed
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,
160(3), 523.
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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,
19(1), 102-107.
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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,
67(2), 239-244.
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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,
52(3), 492-495.
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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,
132(11), 3165-3174.
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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,
11(3), 169-175.
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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,
72(3), 217-223.
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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,
18(6), 453-459.
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