Assistant Professor of Pediatrics, and Medical Director, Gene Discovery Core, Manton Center, Boston Children's Hospital, Harvard Medical School
Neonat/Perinatology
Dr. Pankaj B. Agrawal, MD
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Pankaj B. Agrawal, MD is an expert in the field of Neonat/Perinatology. He graduated from Baroda Medical College. He over the years received 1 awards: "NEST Award". Pankaj Agrawal is a published doctor. He has 24 papers published. The most current publication "Epidemiology of systemic candidiasis in a tertiary care neonatal unit."
Publications
- Cofilin-2 Phosphorylation and Sequestration in Myocardial Aggregates: Novel Pathogenetic Mechanisms for Idiopathic Dilated Cardiomyopathy.
- Expanding the Phenotype Associated With the NEFL Mutation: Neuromuscular Disease in a Family With Overlapping Myopathic and Neurogenic Findings.
- SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
- NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
- A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.
- Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus.
- Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
- Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy.
- Stimulating erythropoiesis in neonates.
- A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome.
- Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections.
- Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings.
- Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.
- Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
- Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 f...
- Multiminicore Disease
- Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2.
- Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
- Fluconazole.
- Epidemiology of systemic candidiasis in a tertiary care neonatal unit.
- Host factors and pneumonia in hospitalised children.
- Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy.
- Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies.
Doctors Specialties
- Neonatal Medicine
- Neonat/Perinatology
Accepted Insurances
Awards
- NEST Award
Education
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Boston Children's Hospital -
Baroda Medical College
Hospital
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Winchester Hospital -
Boston Children's Hospital
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