Research Overview

Dr. Agrawal is focused on determining the genetic and molecular basis of congenital myopathies and various rare diseases. He is also interested in deciphering the role newborn genomic sequencing as a potential screening tool for various childhood-onset diseases.

  1. Role of SPEG and cofilin-2 in skeletal muscle function: Mutations in these genes cause different types of congenital myopathy. He is utilizing conditional knockout mouse models of SPEG and cofilin-2 to determine their function and identify interacting proteins in skeletal muscles.

  2. Identification of novel genes mutated in various rare diseases: The goals of the project is to understand the genetic and molecular underpinnings of various orphan diseases include Ohtahara syndrome (a devastating seizure disorder), ROHHAD syndrome (a complex condition associated with rapid-onset obesity in early childhood, hypothalamic dysfunction, hypoventilation and autonomic dysfunction), mitochondrial disorders, various surgical conditions, including congenital pulmonary airway malformations, gastroschisis, various atresias (e.g. esophageal, intestinal), bladder exstrophies.

  3. Functional genomics of novel genes:Novel candidate genes identified in various rare diseases are often poorly understood. He is working on determining the function of several novel genes identified by his team. Some of those genes include HBS1L and KIF26B.

About Pankaj B. Agrawal

Dr. Agrawal obtained his MD from India where he also did his Pediatric Residency followed by Neonatology training. He spent a few years in Melbourne, Australia working as Senior Registrar in Neonatology. He then came to Boston Children’s Hospital where he completed a Neonatal-Perinatal fellowship and Masters in Medical Science from Harvard Medical School. Currently, he is an Assistant Professor of Pediatrics at Harvard Medical School (HMS) and Attending Neonatologist at Boston Children’s Hospital. He is also the Medical Director of the Gene Discovery Core, Manton Center of Orphan Disease Research based at Boston Children’s. He has been funded by the NIH (K08, R01, U19) and has received several foundation grants.

Key Publications

1. Agrawal PB et al. SPEG interacts with myotubularin (MTM1) and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. published online on July 31, 2014.
2. Agrawal PB et al. Expanding the phenotype associated with NEFL mutation: Neuromuscular disease in a family with overlapping myopathic and neurogenic findings. Accepted to JAMA Neurology 2014.
3. Sankaran VG et al. Rare complete loss-of-function provides insight into a pleiotropic genome-wide association study locus. Blood 2013 122(23):3845-7.
4. Ozge Ceyhan et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology 2013 81(14):1205-14.
5. Agrawal PB et al. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet 2012;21:2341-56.
6. Majczenko K et al. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet 2012;91:365-71.
7. Agrawal PB et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J of Hum Genet 2007;80:162-7. PMC1785312.
8. Agrawal PB et al. Heterogeneity of nemaline myopathy cases with skeletal muscle -actin gene mutations. Ann Neurol 2004;56:86-96.


Researcher Services

Researcher Areas

  • Orphan/Rare Diseases
  • Congenital Myopathies

Research Departments

Research Divisions

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Wojcik MH, Okada K, Prabhu SP, Nowakowski DW, Ramsey K, Balak C, Rangasamy S, Brownstein CA, Schmitz-Abe K, Cohen JS, Fatemi A, Shi J, Grant EP, Narayanan V, Ho HH, Agrawal PB. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy. Am J Med Genet A. 2018 Aug 27. View abstract
  2. Murry JB, Machini K, Ceyhan-Birsoy O, Kritzer A, Krier JB, Lebo MS, Fayer S, Genetti CA, VanNoy GE, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire AL, Green RC, Beggs AH, Rehm HL. Reconciling newborn screening and a novel splice variant in BTD associated with partial biotinidase deficiency: a BabySeq Project case report. Cold Spring Harb Mol Case Stud. 2018 Aug; 4(4). View abstract
  3. Shu C, Huang H, Xu Y, Rota M, Sorrentino A, Peng Y, Padera RF, Huntoon V, Agrawal PB, Liu X, Perrella MA. Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart Failure. Front Physiol. 2018; 9:863. View abstract
  4. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 Jul 09; 18(1):225. View abstract
  5. Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C. BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain. 2018 Jul 09. View abstract
  6. Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2018 Jun 27. View abstract
  7. Torres A, Brownstein CA, Tembulkar SK, Graber K, Genetti C, Kleiman RJ, Sweadner KJ, Mavros C, Liu KX, Smedemark-Margulies N, Maski K, Yang E, Agrawal PB, Shi J, Beggs AH, D'Angelo E, Lincoln SH, Carroll D, Dedeoglu F, Gahl WA, Biggs CM, Swoboda KJ, Berry GT, Gonzalez-Heydrich J. De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome. Mol Genet Metab Rep. 2018 Sep; 16:23-29. View abstract
  8. O'Connell AE, Zhou F, Shah MS, Murphy Q, Rickner H, Kelsen J, Boyle J, Doyle JJ, Gangwani B, Thiagarajah JR, Kamin DS, Goldsmith JD, Richmond C, Breault DT, Agrawal PB. Neonatal-Onset Chronic Diarrhea Caused by Homozygous Nonsense WNT2B Mutations. Am J Hum Genet. 2018 Jul 05; 103(1):131-137. View abstract
  9. Fan X, Xie B, Zou J, Luo J, Qin Z, D'Gama AM, Shi J, Yi S, Yang Q, Wang J, Luo S, Chen S, Agrawal PB, Li Q, Shen Y. Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2018 Sep; 16:15-19. View abstract
  10. Huntoon V, Widrick JJ, Sanchez C, Rosen SM, Kutchukian C, Cao S, Pierson CR, Liu X, Perrella MA, Beggs AH, Jacquemond V, Agrawal PB. SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling. Hum Mol Genet. 2018 May 01; 27(9):1608-1617. View abstract
  11. Katwa U, D'Gama AM, Qualls AE, Donovan LM, Heffernan J, Shi J, Agrawal PB. Atypical presentations associated with non-polyalanine repeat PHOX2B mutations. Am J Med Genet A. 2018 Jul; 176(7):1627-1631. View abstract
  12. Wojcik MH, Schwartz TS, Yamin I, Edward HL, Genetti CA, Towne MC, Agrawal PB. Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities. Genet Med. 2018 Apr 12. View abstract
  13. Rodan LH, Hauptman M, D'Gama AM, Qualls AE, Cao S, Tuschl K, Al-Jasmi F, Hertecant J, Hayflick SJ, Wessling-Resnick M, Yang ET, Berry GT, Gropman A, Woolf AD, Agrawal PB. Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategies. Mol Genet Metab. 2018 Jun; 124(2):161-167. View abstract
  14. Quiñones-Pérez B, VanNoy GE, Towne MC, Shen Y, Singh MN, Agrawal PB, Smith SE. Three-generation family with novel contiguous gene deletion on chromosome 2p22 associated with thoracic aortic aneurysm syndrome. Am J Med Genet A. 2018 Mar; 176(3):560-569. View abstract
  15. Sacharow SJ, Dudenhausen EE, Lomelino CL, Rodan L, El Achkar CM, Olson HE, Genetti CA, Agrawal PB, McKenna R, Kilberg MS. Characterization of a novel variant in siblings with Asparagine Synthetase Deficiency. Mol Genet Metab. 2018 Mar; 123(3):317-325. View abstract
  16. Agrawal PB, Wang R, Li HL, Schmitz-Abe K, Simone-Roach C, Chen J, Shi J, Louie T, Sheng S, Towne MC, Brainson CF, Matthay MA, Kim CF, Bamshad M, Emond MJ, Gerard NP, Kleyman TR, Gerard C. The Epithelial Sodium Channel Is a Modifier of the Long-Term Nonprogressive Phenotype Associated with F508del CFTR Mutations. Am J Respir Cell Mol Biol. 2017 12; 57(6):711-720. View abstract
  17. Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 2017 Nov 02; 101(5):768-788. View abstract
  18. Lo MS, Towne M, VanNoy GE, Brownstein CA, Lane AA, Chatila TA, Agrawal PB. Monogenic Hashimoto thyroiditis associated with a variant in the thyroglobulin (TG) gene. J Autoimmun. 2018 Jan; 86:116-119. View abstract
  19. Cao S, Smith LL, Padilla-Lopez SR, Guida BS, Blume E, Shi J, Morton SU, Brownstein CA, Beggs AH, Kruer MC, Agrawal PB. Homozygous EEF1A2 mutation causes dilated cardiomyopathy, failure to thrive, global developmental delay, epilepsy and early death. Hum Mol Genet. 2017 09 15; 26(18):3545-3552. View abstract
  20. Edvardson S, Nicolae CM, Agrawal PB, Mignot C, Payne K, Prasad AN, Prasad C, Sadler L, Nava C, Mullen TE, Begtrup A, Baskin B, Powis Z, Shaag A, Keren B, Moldovan GL, Elpeleg O. Heterozygous De Novo UBTF Gain-of-Function Variant Is Associated with Neurodegeneration in Childhood. Am J Hum Genet. 2017 Aug 03; 101(2):267-273. View abstract
  21. Wojcik MH, Wierenga KJ, Rodan LH, Sahai I, Ferdinandusse S, Genetti CA, Towne MC, Peake RWA, James PM, Beggs AH, Brownstein CA, Berry GT, Agrawal PB. Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals. JIMD Rep. 2018; 39:45-54. View abstract
  22. Guerriero RM, Patel AA, Walsh B, Baumer FM, Shah AS, Peters JM, Rodan LH, Agrawal PB, Pearl PL, Takeoka M. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency. Pediatr Neurol. 2017 Nov; 76:47-53. View abstract
  23. Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G, Attié-Bitach T, Boutaud L, Héron D, Mignot C. Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU. Hum Genet. 2017 04; 136(4):463-479. View abstract
  24. Morton SU, Prabhu SP, Lidov HGW, Shi J, Anselm I, Brownstein CA, Bainbridge MN, Beggs AH, Vargas SO, Agrawal PB. AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a001560. View abstract
  25. Mehta P, Küspert M, Bale T, Brownstein CA, Towne MC, De Girolami U, Shi J, Beggs AH, Darras BT, Wegner M, Piao X, Agrawal PB. Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. Muscle Nerve. 2017 05; 55(5):761-765. View abstract
  26. Berg JS, Agrawal PB, Bailey DB, Beggs AH, Brenner SE, Brower AM, Cakici JA, Ceyhan-Birsoy O, Chan K, Chen F, Currier RJ, Dukhovny D, Green RC, Harris-Wai J, Holm IA, Iglesias B, Joseph G, Kingsmore SF, Koenig BA, Kwok PY, Lantos J, Leeder SJ, Lewis MA, McGuire AL, Milko LV, Mooney SD, Parad RB, Pereira S, Petrikin J, Powell BC, Powell CM, Puck JM, Rehm HL, Risch N, Roche M, Shieh JT, Veeraraghavan N, Watson MS, Willig L, Yu TW, Urv T, Wise AL. Newborn Sequencing in Genomic Medicine and Public Health. Pediatrics. 2017 Feb; 139(2). View abstract
  27. Ceyhan-Birsoy O, Machini K, Lebo MS, Yu TW, Agrawal PB, Parad RB, Holm IA, McGuire A, Green RC, Beggs AH, Rehm HL. A curated gene list for reporting results of newborn genomic sequencing. Genet Med. 2017 07; 19(7):809-818. View abstract
  28. Morton SU, Neilan EG, Peake RWA, Shi J, Schmitz-Abe K, Towne M, Markianos K, Prabhu SP, Agrawal PB. Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 Variants. JIMD Rep. 2017; 35:7-15. View abstract
  29. Bairdain S, Zurakowski D, Vargas SO, Stenquist N, McDonald M, Towne MC, Miller DT, Jennings RW, Kantor DB, Agrawal PB. Long-Gap Esophageal Atresia Is a Unique Entity within the Esophageal Atresia Defect Spectrum. Neonatology. 2017; 111(2):140-144. View abstract
  30. Smedemark-Margulies N, Brownstein CA, Vargas S, Tembulkar SK, Towne MC, Shi J, Gonzalez-Cuevas E, Liu KX, Bilguvar K, Kleiman RJ, Han MJ, Torres A, Berry GT, Yu TW, Beggs AH, Agrawal PB, Gonzalez-Heydrich J. A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia. Cold Spring Harb Mol Case Stud. 2016 Sep; 2(5):a001008. View abstract
  31. Palmer S, Towne MC, Pearl PL, Pelletier RC, Genetti CA, Shi J, Beggs AH, Agrawal PB, Brownstein CA. SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic Seizures. Pediatr Neurol. 2016 11; 64:77-79. View abstract
  32. Lacy JN, Ulirsch JC, Grace RF, Towne MC, Hale J, Mohandas N, Lux SE, Agrawal PB, Sankaran VG. Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia. Cold Spring Harb Mol Case Stud. 2016 Jul; 2(4):a000885. View abstract
  33. Joshi M, Anselm I, Shi J, Bale TA, Towne M, Schmitz-Abe K, Crowley L, Giani FC, Kazerounian S, Markianos K, Lidov HG, Folkerth R, Sankaran VG, Agrawal PB. Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. Cold Spring Harb Mol Case Stud. 2016 May; 2(3):a000786. View abstract
  34. Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View abstract
  35. Morton SU, Joshi M, Savic T, Beggs AH, Agrawal PB. Skeletal muscle microRNA and messenger RNA profiling in cofilin-2 deficient mice reveals cell cycle dysregulation hindering muscle regeneration. PLoS One. 2015; 10(4):e0123829. View abstract
  36. Subramanian K, Gianni D, Balla C, Assenza GE, Joshi M, Semigran MJ, Macgillivray TE, Van Eyk JE, Agnetti G, Paolocci N, Bamburg JR, Agrawal PB, Del Monte F. Cofilin-2 phosphorylation and sequestration in myocardial aggregates: novel pathogenetic mechanisms for idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2015 Mar 31; 65(12):1199-1214. View abstract
  37. Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. View abstract
  38. Agrawal PB, Joshi M, Marinakis NS, Schmitz-Abe K, Ciarlini PD, Sargent JC, Markianos K, De Girolami U, Chad DA, Beggs AH. Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings. JAMA Neurol. 2014 Nov; 71(11):1413-20. View abstract
  39. Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Moghadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B, Yau KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy. Am J Hum Genet. 2014 Aug 07; 95(2):218-26. View abstract
  40. Leeman KT, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal PB. NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings. J Perinatol. 2014 May; 34(5):410-1. View abstract
  41. Joshi M, Eagan J, Desai NK, Newton SA, Towne MC, Marinakis NS, Esteves KM, De Ferranti S, Bennett MJ, McIntyre A, Beggs AH, Berry GT, Agrawal PB. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet. 2014 Oct; 22(10):1229-32. View abstract
  42. Sankaran VG, Joshi M, Agrawal A, Schmitz-Abe K, Towne MC, Marinakis N, Markianos K, Berry GT, Agrawal PB. Rare complete loss of function provides insight into a pleiotropic genome-wide association study locus. Blood. 2013 Nov 28; 122(23):3845-7. View abstract
  43. Brownstein CA, Towne MC, Luquette LJ, Harris DJ, Marinakis NS, Meinecke P, Kutsche K, Campeau PM, Yu TW, Margulies DM, Agrawal PB, Beggs AH. Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition. Eur J Med Genet. 2013 Dec; 56(12):678-82. View abstract
  44. Sankaran VG, Agrawal PB. Stimulating erythropoiesis in neonates. Am J Hematol. 2013 Nov; 88(11):930-1. View abstract
  45. Ceyhan-Birsoy O, Agrawal PB, Hidalgo C, Schmitz-Abe K, DeChene ET, Swanson LC, Soemedi R, Vasli N, Iannaccone ST, Shieh PB, Shur N, Dennison JM, Lawlor MW, Laporte J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy. Neurology. 2013 Oct 01; 81(14):1205-14. View abstract
  46. Chandonnet CJ, Kahlon PS, Rachh P, Degrazia M, Dewitt EC, Flaherty KA, Spigel N, Packard S, Casey D, Rachwal C, Agrawal PB. Health care failure mode and effect analysis to reduce NICU line-associated bloodstream infections. Pediatrics. 2013 Jun; 131(6):e1961-9. View abstract
  47. Touma M, Joshi M, Connolly MC, Grant PE, Hansen AR, Khwaja O, Berry GT, Kinney HC, Poduri A, Agrawal PB. Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. Epilepsia. 2013 May; 54(5):e81-5. View abstract
  48. Sonnylal S, Xu S, Jones H, Tam A, Sreeram VR, Ponticos M, Norman J, Agrawal P, Abraham D, de Crombrugghe B. Connective tissue growth factor causes EMT-like cell fate changes in vivo and in vitro. J Cell Sci. 2013 May 15; 126(Pt 10):2164-75. View abstract
  49. Christensen RD, Yaish HM, Leon EL, Sola-Visner MC, Agrawal PB. A de novo T73I mutation in PTPN11 in a neonate with severe and prolonged congenital thrombocytopenia and Noonan syndrome. Neonatology. 2013; 104(1):1-5. View abstract
  50. Majczenko K, Davidson AE, Camelo-Piragua S, Agrawal PB, Manfready RA, Li X, Joshi S, Xu J, Peng W, Beggs AH, Li JZ, Burmeister M, Dowling JJ. Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores. Am J Hum Genet. 2012 Aug 10; 91(2):365-71. View abstract
  51. Ockeloen CW, Gilhuis HJ, Pfundt R, Kamsteeg EJ, Agrawal PB, Beggs AH, Dara Hama-Amin A, Diekstra A, Knoers NV, Lammens M, van Alfen N. Congenital myopathy caused by a novel missense mutation in the CFL2 gene. Neuromuscul Disord. 2012 Jul; 22(7):632-9. View abstract
  52. Agrawal PB, Joshi M, Savic T, Chen Z, Beggs AH. Normal myofibrillar development followed by progressive sarcomeric disruption with actin accumulations in a mouse Cfl2 knockout demonstrates requirement of cofilin-2 for muscle maintenance. Hum Mol Genet. 2012 May 15; 21(10):2341-56. View abstract
  53. Chiu CH, Thakuria J, Agrawal PB. Novel CHD7 and FBN1 mutations in an infant with multiple congenital anamolies. Indian J Pediatr. 2010 Feb; 77(2):208-9. View abstract
  54. Pierson CR, Agrawal PB, Blasko J, Beggs AH. Myofiber size correlates with MTM1 mutation type and outcome in X-linked myotubular myopathy. Neuromuscul Disord. 2007 Jul; 17(7):562-8. View abstract
  55. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, Laing NG, Darras BT, Maciver SK, Dormitzer PR, Beggs AH. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2. Am J Hum Genet. 2007 Jan; 80(1):162-7. View abstract
  56. Pierson CR, Tomczak K, Agrawal P, Moghadaszadeh B, Beggs AH. X-linked myotubular and centronuclear myopathies. J Neuropathol Exp Neurol. 2005 Jul; 64(7):555-64. View abstract
  57. PB Agrawal, AH Beggs. Multiminicore Disease. GeneReviews at GeneTests. 2005. View abstract
  58. PB Agrawal, M Singh. Neonatal Necrotizing Enterocolitis: Recent Developments. Current Issues in Pediatrics edited by N. Shendurnikar and N. Thacker. 2005. View abstract
  59. Agrawal PB, Strickland CD, Midgett C, Morales A, Newburger DE, Poulos MA, Tomczak KK, Ryan MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol. 2004 Jul; 56(1):86-96. View abstract
  60. Sethi S, Sharma M, Narang A, Aggrawal PB. Isolation Pattern and Clinical Outcome of Genital Mycoplasma in Neonates from a Tertiary Care Neonatal Unit. Journal of Tropical Pediatrics. 1999; 45:143-5. View abstract
  61. Narang A, Agrawal PB, Chakrabarti A, Kumar P. Epidemiology of systemic candidiasis in a tertiary care neonatal unit. J Trop Pediatr. 1998 04; 44(2):104-8. View abstract
  62. Agrawal PB, Narang A, Kumar P. Fluconazole. Indian J Pediatr. 1996 Nov-Dec; 63(6):775-80. View abstract
  63. Narang A, Agrawal P, Chakraborti A, Kumar P. Fluconazole in the management of neonatal systemic candidiasis. Indian Pediatr. 1996 Oct; 33(10):823-6. View abstract
  64. Agrawal PB, Shendurnikar N, Shastri NJ. Host factors and pneumonia in hospitalised children. J Indian Med Assoc. 1995 Jul; 93(7):271-2. View abstract