Pankaj Agrawal, MD, Neonat/Perinatology, Boston, MA, Boston Children's Hospital


Neonat/Perinatology Boston, MA

Birth Defect Genetics

Associate Professor of Pediatrics, Medical Director, Manton Center Gene Discovery Core, Director, Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School

Dr. Agrawal is on Doximity

As a Doximity member you'll join over a million verified healthcare professionals in a private, secure network.

  • Connect with other colleagues in the same hospital or clinic
  • Search all U.S. specialist profiles and refer a patient
  • Read the latest clinical news and earn CME/CEU credits

See Dr. Agrawal's full profile

Already have an account?

Education & Training

  • Boston Children's Hospital
    Boston Children's HospitalFellowship, Neonatal-Perinatal Medicine, 2000 - 2003
  • Harvard University and Harvard Medical SchoolMMSC, Biostatistics, Epidemiology, Clinical Trials, Genomics, 2003
  • Baroda Medical College
    Baroda Medical CollegeClass of 1991

Certifications & Licensure

  • MA State Medical License
    MA State Medical License 2002 - 2021

Awards, Honors, & Recognition

  • NEST Award NICU, Boston Children's Hospital, 2006

Publications & Presentations


Journal Articles

  • Expanding the Phenotype Associated with NEFL Mutation: Neuromuscular Disease in a Family with Overlapping Myopathic and Neurogenic Findings  
    Pankaj B. Agrawal, Mugdha Joshi, Nicholas S. Marinakis, Klaus Schmitz-Abe, Pedro DSC Ciarlini, Jane C. Sargent, Kyriacos Markianos, Umberto De Girolami, David A. Chad..., Jamaneurol, 1/29/2014
  • Cytoplasmic Glycerol-3-phosphate Dehydrogenase Deficiency Presents with Massive Hepatomegaly, Steatohepatitis and Hypertriglyceridemia in an Infant  
    Mugdha Joshi, Jacqueline Eagan, Nirav K. Desai, Stephanie A. Newton, Meghan C. Towne, Nicholas Marinakis, Kristyn M. Esteves, Sarah De Ferranti, Michael J. Bennett, Ad..., Eur J Hum Genet, 1/19/2014
  • SPEG Interacts with Myotubularin (MTM1) And Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy  
    Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Go..., Am J Hum Genet, 1/7/2014
  • Join now to see all

Books/Book Chapters

  • Join now to see all


  • SPEG Interacts with Myotubularin and its Deficiency causes Centronuclear Myopathy with Dilated Cardiomyopathy
    Agrawal PB, Pierson CR, Joshi M, Liu X, Ravenscroft G, Mogdhadaszadeh B, Talabere T, Viola M, Swanson LC, Haliloglu G, Talim B Yau KS, Allcock RJN, Laing NG, Perrella ..., New Directions in Biology and Disease of Skeletal Muscle Conference, Chicago, 1/29/2014
  • The Gene Discovery Core: Four Years of Experience in Determining the Genetic Basis for Orphan Diseases
    Towne MC, Brownstein CA, Marguiles DM, Beggs,AH, Agrawal PB, American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA, 1/18/2014
  • Frataxin, a Fredrich's Ataxia Protein Is Defective in Mitochondrial Processing Peptidase-alpha (PMPCA) Mutations
    Agrawal PB, Joshi M, Anselm I, Giani F, Towne MC, Schmitz-Abe K, Markianos K, Sankaran VG., American Society of Human Genetics (ASHG) Annual Meeting, San Diego, CA, 1/18/2014
  • Join now to see all


  • Genetic and Molecular Basis of Rare Diseases in Children and "Genomic" Newborn Screening 
  • Gene Discovery Core: A Resource for Clinicians, Researchers and Families 
    Division of Genetics and Genomics, Boston Children's Hospital - 1/1/2014
  • An Update and Sharing Few Interesting Cases from the Gene Discovery Core 
    Partners Healthcare, Cambridge MA - 1/1/2014
  • Join now to see all


  • Ending Diagnostic Odysseys:Clinical and Research Experiences with Genomic Sequencing 
    ACMG Genomics Case Conference Webinar
  • 14 Health Care Innovation Predictions for 2014 
    Children's Hospital "Vectorblog"
  • Multiminicore Disease 
    Agrawal PB, Beggs A, GeneReviews at GeneTests: Medical Genetics Information Resource, Washington, Seattle
  • Join now to see all

Press Mentions

  • Where Things Break: The Problem of Rare Disease
    Where Things Break: The Problem of Rare DiseaseDecember 02, 2018 16:28

Grant Support

  • SPEG is critical in skeletal muscle development and functionNIAMS/NIH2015–2020
  • Cofilin-2: Molecular Function And It'S Role In MyopathiesNational Institute Of Arthritis And Musculoskeletal And Skin Diseases2007–2011

Hospital Affiliations