Medical School

  • University of California, San Diego , 1989 , La Jolla , CA


  • Boston Children's Hospital , 1991 , Boston , MA


  • Boston Children's Hospital , 1994 , Boston , MA


  • American Board of Medical Genetics and Genomics, Clinical Biochemical Genetics


Publications powered by Harvard Catalyst Profiles

  1. Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome. Am J Med Genet A. 2021 01; 185(1):119-133. View abstract
  2. How a concentration-effect analysis of data from the eliglustat thorough electrocardiographic study was used to support dosing recommendations. Mol Genet Metab. 2020 Sep - Oct; 131(1-2):211-218. View abstract
  3. Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases. Orphanet J Rare Dis. 2020 04 15; 15(1):92. View abstract
  4. Effects of paroxetine, ketoconazole, and rifampin on the metabolism of eliglustat, an oral substrate reduction therapy for Gaucher disease type 1. Mol Genet Metab Rep. 2020 Mar; 22:100552. View abstract
  5. Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Mol Dis. 2019 07; 77:101-102. View abstract
  6. Burden of Illness in Acid Sphingomyelinase Deficiency: A Retrospective Chart Review of 100 Patients. JIMD Rep. 2018; 41:119-129. View abstract
  7. Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. Blood Cells Mol Dis. 2018 07; 71:71-74. View abstract
  8. Response to "Unexpected mutations after CRISPR-Cas9 editing in vivo". Nat Methods. 2018 04; 15(4):236-237. View abstract
  9. The art and science of choosing efficacy endpoints for rare disease clinical trials. . 2018 Apr; 176(4):759-772. View abstract
  10. Corrigendum to "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. 118 (2016) 206-213]. Mol Genet Metab. 2018 12; 125(4):360. View abstract
  11. Efficacy and safety of sevelamer carbonate in hyperphosphatemic pediatric patients with chronic kidney disease. Pediatr Nephrol. 2018 02; 33(2):325-333. View abstract
  12. Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. Circ Heart Fail. 2017 Feb; 10(2). View abstract
  13. Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism. Doc Ophthalmol. 2017 04; 134(2):135-140. View abstract
  14. Immune tolerance induction for laronidase treatment in mucopolysaccharidosis I. Mol Genet Metab Rep. 2017 Mar; 10:61-66. View abstract
  15. A pooled analysis of adverse events in 393 adults with Gaucher disease type 1 from four clinical trials of oral eliglustat: Evaluation of frequency, timing, and duration. Blood Cells Mol Dis. 2018 02; 68:185-191. View abstract
  16. Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry. Mol Genet Metab. 2017 Jan - Feb; 120(1-2):47-56. View abstract
  17. Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency. Am J Surg Pathol. 2016 09; 40(9):1232-42. View abstract
  18. 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 07; 118(3):206-213. View abstract
  19. 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. View abstract
  20. Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):88-97. View abstract
  21. Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate. Mol Genet Metab Rep. 2015 Jun; 3:55-7. View abstract
  22. 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. View abstract
  23. Redefining the MED13L syndrome. Eur J Hum Genet. 2015 Oct; 23(10):1308-17. View abstract
  24. 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 Feb 10; 10:16. View abstract
  25. 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. View abstract
  26. Monoallelic expression of the human FOXP2 speech gene. Proc Natl Acad Sci U S A. 2015 Jun 02; 112(22):6848-54. View abstract
  27. Novel mutations widen the phenotypic spectrum of slow skeletal/ß-cardiac myosin (MYH7) distal myopathy. Hum Mutat. 2014 Jul; 35(7):868-79. View abstract
  28. 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. View abstract
  29. Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients. Mol Genet Metab. 2014 Feb; 111(2):209-11. View abstract
  30. SOX12 and NRSN2 are candidate genes for 20p13 subtelomeric deletions associated with developmental delay. . 2013 Dec; 162B(8):832-40. View abstract
  31. Risk stratification at diagnosis for children with hypertrophic cardiomyopathy: an analysis of data from the Pediatric Cardiomyopathy Registry. Lancet. 2013 Dec 07; 382(9908):1889-97. View abstract
  32. CRB1: one gene, many phenotypes. Semin Ophthalmol. 2013 Sep-Nov; 28(5-6):397-405. View abstract
  33. 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. View abstract
  34. 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. View abstract
  35. 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. View abstract
  36. Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry. Eur J Pediatr. 2012 Jun; 171(6):911-9. View abstract
  37. Source document verification in the Mucopolysaccharidosis Type I Registry. Pharmacoepidemiol Drug Saf. 2012 Jul; 21(7):749-752. View abstract
  38. 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. View abstract
  39. 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. View abstract
  40. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010 Oct; 31(10):1142-54. View abstract
  41. The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin. 2010 Oct; 6(4):401-13, vii. View abstract
  42. Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I. J Inherit Metab Dis. 2010 Aug; 33(4):421-7. View abstract
  43. 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. View abstract
  44. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics. 2009 Jan; 123(1):229-40. View abstract
  45. A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I. Mol Genet Metab. 2009 Jan; 96(1):13-9. View abstract
  46. A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype. Hum Genet. 2009 Jan; 124(6):615-23. View abstract
  47. 20p12.3 microdeletion predisposes to Wolff-Parkinson-White syndrome with variable neurocognitive deficits. J Med Genet. 2009 Mar; 46(3):168-75. View abstract
  48. 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. View abstract
  49. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008 Aug; 122(2):e341-9. View abstract
  50. 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. View abstract
  51. Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis? . 2007 Dec 15; 143A(24):2973-80. View abstract
  52. Sibling phenotype concordance in classical infantile Pompe disease. . 2007 Nov 01; 143A(21):2493-501. View abstract
  53. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007 Feb 13; 115(6):773-81. View abstract
  54. Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. Prog Pediatr Cardiol. 2007; 24(1):15-25. View abstract
  55. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006 Oct 18; 296(15):1867-76. View abstract
  56. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics. 2006 Oct; 118(4):1519-31. View abstract
  57. 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. View abstract
  58. A physical performance measure for individuals with mucopolysaccharidosis type I. Dev Med Child Neurol. 2006 Jul; 48(7):576-81. View abstract
  59. Cardiac Registry screening for DiGeorge Critical Region deletion using loss of heterozygosity analysis. Pediatr Dev Pathol. 2006 Jul-Aug; 9(4):266-79. View abstract
  60. Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing. Radiology. 2006 Jan; 238(1):339-45. View abstract
  61. 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. View abstract
  62. Clinical presentation of 13 patients with subtelomeric rearrangements and a review of the literature. . 2004 Aug 01; 128A(4):352-63. View abstract
  63. 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. View abstract
  64. Physical performance testing in mucopolysaccharidosis I: a pilot study. Pediatr Rehabil. 2004 Apr-Jun; 7(2):125-31. View abstract
  65. 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. View abstract
  66. Retinal function in carriers of Bardet-Biedl syndrome. Arch Ophthalmol. 2003 Jun; 121(6):804-10. View abstract
  67. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. 2003 Apr 24; 348(17):1647-55. View abstract
  68. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. View abstract
  69. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Am J Hum Genet. 2003 Feb; 72(2):429-37. View abstract
  70. Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the dHAND gene. Genet Med. 2002 Nov-Dec; 4(6):464-7. View abstract
  71. 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. View abstract
  72. 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. View abstract
  73. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002 Jul; 71(1):162-4. View abstract
  74. 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. View abstract
  75. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet. 2000 Sep 04; 94(1):42-5. View abstract
  76. Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J. 2000 Feb; 139(2 Pt 3):S86-95. View abstract
  77. 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 01; 97(3):1212-7. View abstract
  78. 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. View abstract
  79. Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy. Am J Surg Pathol. 1998 Sep; 22(9):1141-7. View abstract
  80. 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. View abstract
  81. Catalytic and FAD-binding residues of mitochondrial very long chain acyl-coenzyme A dehydrogenase. J Biol Chem. 1998 Feb 13; 273(7):4227-31. View abstract
  82. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 1997 Nov; 61(5):1053-8. View abstract
  83. Dystrophies and heart disease. Curr Opin Cardiol. 1997 May; 12(3):329-43. View abstract
  84. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996 Oct 15; 94(8):2021-38. View abstract
  85. A muscle-specific DNase I-like gene in human Xq28. Hum Mol Genet. 1995 Sep; 4(9):1557-64. View abstract