Parul Jayakar, MD

A clinician identified with a Nicklaus Children's Pediatric Specialists logo is an affiliate of Nicklaus Children's Health System. All other clinicians listed on the website are in independent medical practices.

 

Video Profile

Director, Division of Genetics and Metabolism
Nicklaus Children’s Pediatric Specialists (NCPS) Chief, Section of Clinical Genetics and Metabolism

Dr. Parul Jayakar is the director of the Division of Clinical Genetics and Metabolism at Nicklaus Children’s Hospital and the Nicklaus Children’s Pediatric Specialists (NCPS) chief of 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.


Pingault, V., Neiva-Vaz, C., ..., Jayakar, P., et al (2025). Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum. European journal of human genetics, 33(1), 131-136. View in Pubmed

Murphy, M.R., Ganapathi, M., …, Jayakar, P., et al (2025). Pathogenetic mechanisms of muscle-specific ribosomes in dilated cardiomyopathy. bioRxiv , Ahead of print(), . View in Pubmed

Pingault, V., Neiva-Vaz, C., ..., Jayakar, P., et al (2024). Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study. Molecular genetics and metabolism, 142(4), 108519.

Thorpe, E, Williams, T., ..., Jayakar, P., et al (2024). The impact of clinical genome sequencing in a global population with suspected rare genetic disease. American journal of human genetics, 111(7), 38843839.

Sajan, S.A., Gradisch, R., …, Jayakar, P., et al (2024). De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities, and epilepsy. European Journal of Human Genetics, 32(8), 912-919. 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

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. 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 (Check), . View in Pubmed

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

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. View in Pubmed

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

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. View in Pubmed

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

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. 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

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

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. 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

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. 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

Primary Office

Address:
Nicklaus Children's Clinical Genetics
3100 SW 62 Avenue- 3rd Floor - Brain Institute
Miami, FL 33155
Phone Number:
786-624-4717

Education

Fellowship - UM/Jackson Memorial Hospital
Residency - Nicklaus Children's Hospital
Medical School - Lady Hardinge Med. College, India
Graduate Training - University of Manitoba

Board Certifications

American Board of Medical Genetics (Clinical Cytogenetics and Genomics) - Certified
American Board of Pediatrics (Pediatrics) - Certified
American Board of Medical Genetics (Clinical Biochemical Geneticist) - Certified
American Board of Medical Genetics (Clinical Genetics and Genomics) - Certified