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Parul Jayakar, MD

Parul B Jayakar, MD

Director, Division of Clinical Genetics and Metabolism
Director, Neurogenetics/ Metabolic Program
Director, Miami Genetic Laboratories
NCPS Chief, Clinical Genetics and Metabolism

Pediatric Specialty:
Clinical Genetics & Metabolism

Primary Office:

3100 SW 62 Avenue - ACB - Brain Institute
Miami, FL 33155
786-624-4717

Gender: Female

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A physician identified with a Nicklaus Children’s Pediatric Specialists logo is an employee of Nicklaus Children's Health System. All other physicians listed on the website are in private medical practices.

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Video Profile

Biography

Director, Division of Genetics and Metabolism
Director, Neurogenetics/Metabolic Program
Director, Miami Genetics Laboratories
Nicklaus Children’s Pediatric Specialists Chief, Section of Clinical Genetics and Metabolism

Dr. Parul Jayakar is the director of the Division of Clinical Genetics and Metabolism, director of Miami Genetic Laboratories, director of Neurogenetics/Metabolism at Nicklaus Children’s Hospital and the Nicklaus Children’s Pediatric Specialists chief for the Section of Clinical Genetics. She earned her medical degree from the University of Delhi, India; and pursued a master’s degree in human genetics at the University of Manitoba, Canada. Dr. Jayakar completed her residency training in pediatrics at Nicklaus Children’s Hospital and a fellowship in clinical genetics, clinical cytogenetics and clinical biochemical genetics at the University of Miami. She is board certified in general pediatrics, clinical genetics, clinical cytogenetics and clinical biochemical genetics.

After joining the Division of Genetics and Metabolism in 1995, Dr. Jayakar expanded the program’s clinical services and became the director of the Cytogenetics Laboratory and later assumed the role of director of all the Miami Genetics Laboratories. She also established the Neurogenetics/Metabolism and Rare Chromosomal Disorders programs, along with the Chromosome 22q Clinic, which offer comprehensive multidisciplinary care to children referred from all over Florida, Latin America and the Caribbean. In addition, Dr. Jayakar was instrumental in launching the Ion Channel Epilepsy Program, as well as Tuberous Sclerosis and Neural Tube Defects multidisciplinary clinics.

Dr. Jayakar provides comprehensive coordinated clinical and metabolic genetic inpatient and outpatient services to patients with seizures, undiagnosed intellectual disabilities, autism, suspected genetic syndromes, dysmorphism, inborn errors of metabolism, abnormal state newborn screens, chromosome abnormalities, neurocutaneous syndromes, multiple congenital anomalies, ambiguous genitalia and progressive neurodegenerative diseases. She has presented at national meetings and published extensively in peer-reviewed journals. Dr. Jayakar is also involved in research through the Nicklaus Children’s Hospital Personalized Medicine Initiative, in collaboration with the Sanford Consortium.

Dr. Jayakar is employed by Nicklaus Children’s Pediatric Specialists, the physician-led group practice of Nicklaus Children’s Health System. She sees patients at Nicklaus Children’s Hospital and is fluent in English, Hindi, Marathi and Gujarati.

The Division of Clinical Genetics at Nicklaus Children's Hospital, provides expert diagnosis, counseling, and treatment for a wide range of genetic disorders in children. A clinical geneticist and genetic counselor evaluate infants and children for a variety of conditions, including developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies, and failure to thrive. Prenatal patients may also be seen for genetic counseling prior to a planned conception or potential genetic anomalies during pregnancy.

Publications

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

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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](), . View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

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. View in Pubmed

Offices

Primary Office

Address:

Nicklaus Children's Clinical Genetics

3100 SW 62 Avenue - ACB - Brain Institute

Miami, FL 33155

Phone Number:

Education and Credentials

Education

Graduate Training - University of Manitoba

Medical School - Lady Hardinge Med. College, India

Fellowship - UM/Jackson Memorial Hospital

Residency - Nicklaus Children's Hospital

Board Certifications

American Board of Medical Genetics (Cytogeneticist) - Certified

American Board of Medical Genetics (Clinical Biochemical Geneticist) - Certified

American Board of Pediatrics (Pediatrics) - Certified

American Board of Medical Genetics (Clinical Genetics) - Certified