Edward Neilan, MD

Assistant in Medicine

Instructor in Pediatrics

    Contact: 617-355-6394
  • Fax: 617-730-0466

Medical Services


  • Inborn Errors of Metabolism
  • Cockayne Syndrome
  • Mitochondrial Disorders


  • Genetics and Genomics
  • Medicine


  • Metabolism Program
To schedule an appointment: Call 617-355-6394 or Request an Appointment

Experience and Education



Yale University, 1989

New Haven, CT

Graduate School

Stanford University, 1998

Palo Alto, CA

Medical School

Stanford University, 1998

Palo Alto, CA


Boston Children's Hospital, 1999

Boston, MA


Boston Children's Hospital, 2001

Boston, MA


Harvard Medical School Genetics Training Program, 2004

Boston, MA


  • Pediatrics


Publications powered by Harvard Catalyst Profiles
  1. Morton SU, Neilan EG, Peake RW, 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. 2016 Nov 18.
  2. Burton BK, Balwani M, Feillet F, Baric I, Burrow TA, Camarena Grande C, Coker M, Consuelo-Sánchez A, Deegan P, Di Rocco M, Enns GM, Erbe R, Ezgu F, Ficicioglu C, Furuya KN, Kane J, Laukaitis C, Mengel E, Neilan EG, Nightingale S, Peters H, Scarpa M, Schwab KO, Smolka V, Valayannopoulos V, Wood M, Goodman Z, Yang Y, Eckert S, Rojas-Caro S, Quinn AG. A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. N Engl J Med. 2015 Sep 10; 373(11):1010-20.
  3. Wang Y, Chakravarty P, Ranes M, Kelly G, Brooks PJ, Neilan E, Stewart A, Schiavo G, Svejstrup JQ. Dysregulation of gene expression as a cause of Cockayne syndrome neurological disease. Proc Natl Acad Sci U S A. 2014 Oct 07; 111(40):14454-9.
  4. Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58.
  5. Wessel AE, Mogensen KM, Rohr F, Erick M, Neilan EG, Chopra S, Levy HL, Gray KJ, Wilkins-Haug L, Berry GT. Management of a Woman With Maple Syrup Urine Disease During Pregnancy, Delivery, and Lactation. JPEN J Parenter Enteral Nutr. 2015 Sep; 39(7):875-9.
  6. Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Newborn Screening for Glutaric Aciduria-II: The New England Experience. JIMD Rep. 2014; 13:1-14.
  7. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50.
  8. Zhang X, Horibata K, Saijo M, Ishigami C, Ukai A, Kanno S, Tahara H, Neilan EG, Honma M, Nohmi T, Yasui A, Tanaka K. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. Nat Genet. 2012 May; 44(5):593-7.
  9. Neilan EG. Laminopathies, other progeroid disorders, and aging: common pathogenic themes and possible treatments. Am J Med Genet A. 2009 Feb 15; 149A(4):563-6.
  10. Neilan EG, Delgado MR, Donovan MA, Kim SY, Jou RL, Wu BL, Kang PB. Response of motor complications in Cockayne syndrome to carbidopa-levodopa. Arch Neurol. 2008 Aug; 65(8):1117-21.
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  12. Kimonis VE, Mehta SG, Fulchiero EC, Thomasova D, Pasquali M, Boycott K, Neilan EG, Kartashov A, Forman MS, Tucker S, Kimonis K, Mumm S, Whyte MP, Smith CD, Watts GD. Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia. Am J Med Genet A. 2008 Mar 15; 146A(6):745-57.
  13. Neilan E, Pikman Y, Kimonis VE. Peters anomaly in association with multiple midline anomalies and a familial chromosome 4 inversion. Ophthalmic Genet. 2006 Jun; 27(2):63-5.
  14. Edward G. Neilan. Cockayne Syndrome. in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. 2006; Available at http://www.genete.
  15. Edward Neilan and Deborah Marsden. Metabolic Disorders. Manual of Pediatric Therapeutics (John Graef, ed.). 2006.
  16. Neilan EG, Hillman SL, Levy HL, Millington DS, and Hopkins N. Metabolite profiling in individual wild-type and mutant zebrafish embryos using electrospray tandem mass spectrometry. 2006; (Manuscript in preparation.).
  17. Blanchard Y, Neilan E, Busanich J, Garavuso L, Klimas D. Interrater reliability of early intervention providers scoring the alberta infant motor scale. Pediatr Phys Ther. 2004; 16(1):13-8.
  18. Neilan EG, Shih VE. Amino Acids. Encyclopedia of the Neurological Sciences. (Michael J. Aminoff and Robert B. Daroff, eds.). 2003; 1:112-116.
  19. Edward G. Neilan, Vivian E. Shih. Amino Acid Disorders. Encyclopedia of the Neurological Sciences (Michael J. Aminoff and Robert B. Daroff, eds.). 2003; 1:105-112.
  20. Neilan EG, Barsh GS. Gene trap insertional mutagenesis in mice: new vectors and germ line mutations in two novel genes. Transgenic Res. 1999; 8(6):451-8.
  21. Neilan, Edward G. PhD Thesis: Insertional Mutagenesis in Mice Using Gene Trap Vectors and Embryonic Stem Cells. 1998.
To schedule an appointment: Call 617-355-6394 or Request an Appointment


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