Gerald Cox MD PhD

Gerald Cox, MD, PhD

Assistant in Medicine

Instructor, Harvard Medical School

  • Contact: 617-355-4697

  • Fax: 617-730-0466

Medical Services

Specialties

  • Genetics
  • Genetic Eye Diseases and Disorders
  • Lysosomal Storage Diseases and Disorders
  • Velo-Cardio-Facial Syndrome (VCFS)
  • Cardiomyopathy
  • Barth Syndrome

Departments

  • Genetics and Genomics
  • Medicine

Programs

  • Genetics Program
To schedule an appointment: Call 617-355-4697 or Request an Appointment

Experience and Education

Education

University of California, San Diego, 1989

La Jolla, CA

Boston Children's Hospital , 07/90 to 12/91

Boston, MA

Boston Children's Hospital , 1/92 to 6/94

Boston, MA

Certifications

  • Clinical Genetics, Biochemical Genetics, Molecular Genetics, Pediatrics

Publications

Publications powered by Harvard Catalyst
  1. Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases. Mol Genet Metab. 2016 Jul; 118(3):206-13.
  2. Xue Y, Richards SM, Mahmood A, Cox GF. Effect of anti-laronidase antibodies on efficacy and safety of laronidase enzyme replacement therapy for MPS I: A comprehensive meta-analysis of pooled data from multiple studies. Mol Genet Metab. 2016 Apr; 117(4):419-26.
  3. Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):88-97.
  4. Chuang WL, Pacheco J, Cooper S, Kingsbury JS, Hinds J, Wolf P, Oliva P, Keutzer J, Cox GF, Zhang K. Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate. Mol Genet Metab Rep. 2015 Jun; 3:55-7.
  5. McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF. Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency). Genet Med. 2016 Jan; 18(1):34-40.
  6. Adegbola A, Musante L, Callewaert B, Maciel P, Hu H, Isidor B, Picker-Minh S, Le Caignec C, Delle Chiaie B, Vanakker O, Menten B, Dheedene A, Bockaert N, Roelens F, Decaestecker K, Silva J, Soares G, Lopes F, Najmabadi H, Kahrizi K, Cox GF, Angus SP, Staropoli JF, Fischer U, Suckow V, Bartsch O, Chess A, Ropers HH, Wienker TF, Hübner C, Kaindl AM, Kalscheuer VM. Redefining the MED13L syndrome. Eur J Hum Genet. 2015 Oct; 23(10):1308-17.
  7. Kakkis ED, O'Donovan M, Cox G, Hayes M, Goodsaid F, Tandon PK, Furlong P, Boynton S, Bozic M, Orfali M, Thornton M. Recommendations for the development of rare disease drugs using the accelerated approval pathway and for qualifying biomarkers as primary endpoints. Orphanet J Rare Dis. 2015; 10:16.
  8. Castorina M, Antuzzi D, Richards SM, Cox GF, Xue Y. Successful pregnancy and breastfeeding in a woman with mucopolysaccharidosis type I while receiving laronidase enzyme replacement. therapy. Clin Exp Obstet Gynecol. 2015; 42(1):108-13.
  9. Adegbola AA, Cox GF, Bradshaw EM, Hafler DA, Gimelbrant A, Chess A. Monoallelic expression of the human FOXP2 speech gene. Proc Natl Acad Sci U S A. 2015 Jun 2; 112(22):6848-54.
  10. Lamont PJ, Wallefeld W, Hilton-Jones D, Udd B, Argov Z, Barboi AC, Bonneman C, Boycott KM, Bushby K, Connolly AM, Davies N, Beggs AH, Cox GF, Dastgir J, DeChene ET, Gooding R, Jungbluth H, Muelas N, Palmio J, Penttilä S, Schmedding E, Suominen T, Straub V, Staples C, Van den Bergh PY, Vilchez JJ, Wagner KR, Wheeler PG, Wraige E, Laing NG. Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. Hum Mutat. 2014 Jul; 35(7):868-79.
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  12. Heidary G, Calderwood L, Cox GF, Robson CD, Teot LA, Mullon J, Anselm I. Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature. J Neuroophthalmol. 2014 Mar; 34(1):39-43.
  13. Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK. Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. Mol Genet Metab. 2014 Feb; 111(2):209-11.
  14. An Y, Amr SS, Torres A, Weissman L, Raffalli P, Cox G, Sheng X, Lip V, Bi W, Patel A, Stankiewicz P, Wu BL, Shen Y. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. Am J Med Genet B Neuropsychiatr Genet. 2013 Dec; 162B(8):832-40.
  15. Lipshultz SE, Orav EJ, Wilkinson JD, Towbin JA, Messere JE, Lowe AM, Sleeper LA, Cox GF, Hsu DT, Canter CE, Hunter JA, Colan SD. Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet. 2013 Dec 7; 382(9908):1889-97.
  16. Ehrenberg M, Pierce EA, Cox GF, Fulton AB. CRB1: one gene, many phenotypes. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):397-405.
  17. Wilkinson JD, Lowe AM, Salbert BA, Sleeper LA, Colan SD, Cox GF, Towbin JA, Connuck DM, Messere JE, Lipshultz SE. Outcomes in children with Noonan syndrome and hypertrophic cardiomyopathy: a study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2012 Sep; 164(3):442-8.
  18. Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM. Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol. 2012 Aug; 36(8):1234-46.
  19. Arn P, Whitley C, Wraith JE, Webb HW, Underhill L, Rangachari L, Cox GF. High rate of postoperative mortality in patients with mucopolysaccharidosis I: findings from the MPS I Registry. J Pediatr Surg. 2012 Mar; 47(3):477-84.
  20. D'Aco K, Underhill L, Rangachari L, Arn P, Cox GF, Giugliani R, Okuyama T, Wijburg F, Kaplan P. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. 2012 Jun; 171(6):911-9.
  21. Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M. Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. PLoS One. 2011; 6(8):e22861.
  22. Alvarez JA, Orav EJ, Wilkinson JD, Fleming LE, Lee DJ, Sleeper LA, Rusconi PG, Colan SD, Hsu DT, Canter CE, Webber SA, Cox GF, Jefferies JL, Towbin JA, Lipshultz SE. Competing risks for death and cardiac transplantation in children with dilated cardiomyopathy: results from the pediatric cardiomyopathy registry. Circulation. 2011 Aug 16; 124(7):814-23.
  23. Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54.
  24. Wilkinson JD, Landy DC, Colan SD, Towbin JA, Sleeper LA, Orav EJ, Cox GF, Canter CE, Hsu DT, Webber SA, Lipshultz SE. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010 Oct; 6(4):401-13, vii.
  25. Thomas JA, Beck M, Clarke JT, Cox GF. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010 Aug; 33(4):421-7.
  26. Okuyama T, Tanaka A, Suzuki Y, Ida H, Tanaka T, Cox GF, Eto Y, Orii T. Japan Elaprase Treatment (JET) study: idursulfase enzyme replacement therapy in adult patients with attenuated Hunter syndrome (Mucopolysaccharidosis II, MPS II). Mol Genet Metab. 2010 Jan; 99(1):18-25.
  27. Clarke LA, Wraith JE, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Sidman M, Kakkis ED, Cox GF. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009 Jan; 123(1):229-40.
  28. Giugliani R, Rojas VM, Martins AM, Valadares ER, Clarke JT, Góes JE, Kakkis ED, Worden MA, Sidman M, Cox GF. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009 Jan; 96(1):13-9.
  29. Adegbola AA, Gonzales ML, Chess A, LaSalle JM, Cox GF. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009 Jan; 124(6):615-23.
  30. Lalani SR, Thakuria JV, Cox GF, Wang X, Bi W, Bray MS, Shaw C, Cheung SW, Chinault AC, Boggs BA, Ou Z, Brundage EK, Lupski JR, Gentile J, Waisbren S, Pursley A, Ma L, Khajavi M, Zapata G, Friedman R, Kim JJ, Towbin JA, Stankiewicz P, Schnittger S, Hansmann I, Ai T, Sood S, Wehrens XH, Martin JF, Belmont JW, Potocki L. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75.
  31. Miller DT, Shen Y, Weiss LA, Korn J, Anselm I, Bridgemohan C, Cox GF, Dickinson H, Gentile J, Harris DJ, Hegde V, Hundley R, Khwaja O, Kothare S, Luedke C, Nasir R, Poduri A, Prasad K, Raffalli P, Reinhard A, Smith SE, Sobeih MM, Soul JS, Stoler J, Takeoka M, Tan WH, Thakuria J, Wolff R, Yusupov R, Gusella JF, Daly MJ, Wu BL. Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders. J Med Genet. 2009 Apr; 46(4):242-8.
  32. McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008 Aug; 122(2):e341-9.
  33. Connuck DM, Sleeper LA, Colan SD, Cox GF, Towbin JA, Lowe AM, Wilkinson JD, Orav EJ, Cuniberti L, Salbert BA, Lipshultz SE. Characteristics and outcomes of cardiomyopathy in children with Duchenne or Becker muscular dystrophy: a comparative study from the Pediatric Cardiomyopathy Registry. Am Heart J. 2008 Jun; 155(6):998-1005.
  34. Moog U, Roelens F, Mortier GR, Sijstermans H, Kelly M, Cox GF, Robson CD, Kimonis VE. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? Am J Med Genet A. 2007 Dec 15; 143A(24):2973-80.
  35. Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen YT, Kishnani PS. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A. 2007 Nov 1; 143A(21):2493-501.
  36. Colan SD, Lipshultz SE, Lowe AM, Sleeper LA, Messere J, Cox GF, Lurie PR, Orav EJ, Towbin JA. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007 Feb 13; 115(6):773-81.
  37. Towbin JA, Lowe AM, Colan SD, Sleeper LA, Orav EJ, Clunie S, Messere J, Cox GF, Lurie PR, Hsu D, Canter C, Wilkinson JD, Lipshultz SE. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006 Oct 18; 296(15):1867-76.
  38. Cox GF, Sleeper LA, Lowe AM, Towbin JA, Colan SD, Orav EJ, Lurie PR, Messere JE, Wilkinson JD, Lipshultz SE. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics. 2006 Oct; 118(4):1519-31.
  39. Sifuentes M, Doroshow R, Hoft R, Mason G, Walot I, Diament M, Okazaki S, Huff K, Cox GF, Swiedler SJ, Kakkis ED. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol Genet Metab. 2007 Feb; 90(2):171-80.
  40. Haley SM, Fragala Pinkham MA, Dumas HM, Ni P, Skrinar AM, Cox GF. A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol. 2006 Jul; 48(7):576-81.
  41. Katzman PJ, Smoot LB, Cox GF. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Pediatr Dev Pathol. 2006 Jul-Aug; 9(4):266-79.
  42. Mendelson DS, Wasserstein MP, Desnick RJ, Glass R, Simpson W, Skloot G, Vanier M, Bembi B, Giugliani R, Mengel E, Cox GF, McGovern MM. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006 Jan; 238(1):339-45.
  43. Burwinkel B, Scott JW, Bührer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun; 76(6):1034-49.
  44. Roberts AE, Cox GF, Kimonis V, Lamb A, Irons M. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. Am J Med Genet A. 2004 Aug 1; 128A(4):352-63.
  45. Wraith JE, Clarke LA, Beck M, Kolodny EH, Pastores GM, Muenzer J, Rapoport DM, Berger KI, Swiedler SJ, Kakkis ED, Braakman T, Chadbourne E, Walton-Bowen K, Cox GF. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr. 2004 May; 144(5):581-8.
  46. Dumas HM, Fragala MA, Haley SM, Skrinar AM, Wraith JE, Cox GF. Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil. 2004 Apr-Jun; 7(2):125-31.
  47. Terlato NJ, Cox GF. Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature. Genet Med. 2003 Jul-Aug; 5(4):286-94.
  48. Cox GF, Hansen RM, Quinn N, Fulton AB. Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol. 2003 Jun; 121(6):804-10.
  49. Lipshultz SE, Sleeper LA, Towbin JA, Lowe AM, Orav EJ, Cox GF, Lurie PR, McCoy KL, McDonald MA, Messere JE, Colan SD. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. 2003 Apr 24; 348(17):1647-55.
  50. Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52.
  51. Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003 Feb; 72(2):429-37.
  52. Huang T, Lin AE, Cox GF, Golden WL, Feldman GL, Ute M, Schrander-Stumpel C, Kamisago M, Vermeulen SJ. Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med. 2002 Nov-Dec; 4(6):464-7.
  53. Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome. Nat Genet. 2002 Aug; 31(4):435-8.
  54. Wu BL, Lindeman N, Lip V, Adams A, Amato RS, Cox G, Irons M, Kenna M, Korf B, Raisen J, Platt O. Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing. Genet Med. 2002 Jul-Aug; 4(4):279-88.
  55. Cox GF, Bürger J, Lip V, Mau UA, Sperling K, Wu BL, Horsthemke B. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002 Jul; 71(1):162-4.
  56. Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders. Am J Hum Genet. 2002 Jun; 70(6):1520-31.
  57. Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet. 2000 Sep 4; 94(1):42-5.
  58. Grenier MA, Osganian SK, Cox GF, Towbin JA, Colan SD, Lurie PR, Sleeper LA, Orav EJ, Lipshultz SE. Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J. 2000 Feb; 139(2 Pt 3):S86-95.
  59. Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM. A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy. Proc Natl Acad Sci U S A. 2000 Feb 1; 97(3):1212-7.
  60. Annunen S, Körkkö J, Czarny M, Warman ML, Brunner HG, Kääriäinen H, Mulliken JB, Tranebjaerg L, Brooks DG, Cox GF, Cruysberg JR, Curtis MA, Davenport SL, Friedrich CA, Kaitila I, Krawczynski MR, Latos-Bielenska A, Mukai S, Olsen BR, Shinno N, Somer M, Vikkula M, Zlotogora J, Prockop DJ, Ala-Kokko L. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet. 1999 Oct; 65(4):974-83.
  61. Perez-Atayde AR, Fox V, Teitelbaum JE, Anthony DA, Fadic R, Kalsner L, Rivkin M, Johns DR, Cox GF. Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. Am J Surg Pathol. 1998 Sep; 22(9):1141-7.
  62. Cox GF, Souri M, Aoyama T, Rockenmacher S, Varvogli L, Rohr F, Hashimoto T, Korson MS. Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency. J Pediatr. 1998 Aug; 133(2):247-53.
  63. Souri M, Aoyama T, Cox GF, Hashimoto T. Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. J Biol Chem. 1998 Feb 13; 273(7):4227-31.
  64. Johnston J, Kelley RI, Feigenbaum A, Cox GF, Iyer GS, Funanage VL, Proujansky R. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 1997 Nov; 61(5):1053-8.
  65. Cox GF, Kunkel LM. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43.
  66. Schwartz ML, Cox GF, Lin AE, Korson MS, Perez-Atayde A, Lacro RV, Lipshultz SE. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996 Oct 15; 94(8):2021-38.
  67. Parrish JE, Ciccodicola A, Wehhert M, Cox GF, Chen E, Nelson DL. A muscle-specific DNase I-like gene in human Xq28. Hum Mol Genet. 1995 Sep; 4(9):1557-64.
To schedule an appointment: Call 617-355-4697 or Request an Appointment

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