Current Environment: Production

Medical Services

Specialties

Programs & Services

Education

Internship

Massachusetts General Hospital

Boston, MA

Medical School

Harvard Medical School

Boston, MA

Residency

Massachusetts General Hospital

Boston, MA

Fellowship

Boston Children's Hospital

Boston, MA

Publications

  1. Heritability of fetal hemoglobin, white cell count, and other clinical traits from a sickle cell disease family cohort. Am J Hematol. 2019 05; 94(5):522-527. View Abstract

  2. Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature. 2011 Aug 31; 478(7367):97-102. View Abstract

  3. Age- and gender-dependent obesity in individuals with 16p11.2 deletion. J Genet Genomics. 2011 Sep 20; 38(9):403-9. View Abstract

  4. Abnormal modulation of cell protective systems in response to ischemic/reperfusion injury is important in the development of mouse sickle cell hepatopathy. Haematologica. 2011 Jan; 96(1):24-32. View Abstract

  5. Pulmonary hypertension and nitric oxide depletion in sickle cell disease. Blood. 2010 Aug 05; 116(5):687-92. View Abstract

  6. Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss. Physiol Genomics. 2009 Aug 07; 38(3):281-90. View Abstract

  7. SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss. Genet Med. 2008 Aug; 10(8):586-92. View Abstract

  8. Hydroxyurea for the treatment of sickle cell anemia. N Engl J Med. 2008 Mar 27; 358(13):1362-9. View Abstract

  9. Protective effects of phosphodiesterase-4 (PDE-4) inhibition in the early phase of pulmonary arterial hypertension in transgenic sickle cell mice. FASEB J. 2008 Jun; 22(6):1849-60. View Abstract

  10. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med. 2008 Feb 14; 358(7):667-75. View Abstract

  11. Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance. Clin Chem. 2007 Dec; 53(12):2051-9. View Abstract

  12. Quantitative trait loci for peripheral blood cell counts: a study in baboons. Mamm Genome. 2007 May; 18(5):361-72. View Abstract

  13. Quantitative trait loci for baseline erythroid traits. Mamm Genome. 2006 Apr; 17(4):298-309. View Abstract

  14. Prevention and management of stroke in sickle cell anemia. Hematology Am Soc Hematol Educ Program. 2006; 54-7. View Abstract

  15. Preventing stroke in sickle cell anemia. N Engl J Med. 2005 Dec 29; 353(26):2743-5. View Abstract

  16. Quantitative trait loci for baseline white blood cell count, platelet count, and mean platelet volume. Mamm Genome. 2005 Oct; 16(10):749-63. View Abstract

  17. Genetic influences on peripheral blood cell counts: a study in baboons. Blood. 2005 Aug 15; 106(4):1210-4. View Abstract

  18. Acquisition of mutans streptococci and caries prevalence in pediatric sickle cell anemia patients receiving long-term antibiotic therapy. Pediatr Dent. 2005 May-Jun; 27(3):186-90. View Abstract

  19. Use of a multiplex PCR/sequencing strategy to detect both connexin 30 (GJB6) 342 kb deletion and connexin 26 (GJB2) mutations in cases of childhood deafness. Am J Med Genet A. 2003 Aug 30; 121A(2):102-8. View Abstract

  20. Human erythrocyte membrane band 3 protein influences hemoglobin cooperativity. Possible effect on oxygen transport. J Biol Chem. 2003 Oct 10; 278(41):39565-71. View Abstract

  21. 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

  22. Sickle cell anemia as an inflammatory disease. J Clin Invest. 2000 Aug; 106(3):337-8. View Abstract

  23. The acute chest syndrome of sickle cell disease. N Engl J Med. 2000 Jun 22; 342(25):1904-7. View Abstract

  24. Transposing sequences between fetal and adult hemoglobins indicates which subunits and regulatory molecule interfaces are functionally related. Biochemistry. 2000 Apr 04; 39(13):3774-81. View Abstract

  25. Safety of hydroxyurea in children with sickle cell anemia: results of the HUG-KIDS study, a phase I/II trial. Pediatric Hydroxyurea Group. Blood. 1999 Sep 01; 94(5):1550-4. View Abstract

  26. Reticulocyte hemoglobin content to diagnose iron deficiency in children. JAMA. 1999 Jun 16; 281(23):2225-30. View Abstract

  27. Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. The Cooperative Study of Sickle Cell Disease. Pediatrics. 1999 Mar; 103(3):640-5. View Abstract

  28. Oral magnesium supplements reduce erythrocyte dehydration in patients with sickle cell disease. J Clin Invest. 1997 Oct 01; 100(7):1847-52. View Abstract

  29. Reticulocyte hemoglobin: an integrated parameter for evaluation of erythropoietic activity. Am J Clin Pathol. 1997 Aug; 108(2):133-42. View Abstract

  30. The febrile child with sickle cell disease: a pediatrician's quandary. J Pediatr. 1997 May; 130(5):693-4. View Abstract

  31. Bone marrow transplantation in sickle cell anemia--the dilemma of choice. N Engl J Med. 1996 Aug 08; 335(6):426-8. View Abstract

  32. Therapy with oral clotrimazole induces inhibition of the Gardos channel and reduction of erythrocyte dehydration in patients with sickle cell disease. J Clin Invest. 1996 Mar 01; 97(5):1227-34. View Abstract

  33. A high-performance liquid chromatographic assay for the determination of itraconazole concentration using solid-phase extraction and small sample volume. Ther Drug Monit. 1995 Oct; 17(5):522-5. View Abstract

  34. Membrane protein interactions in sickle red blood cells: evidence of abnormal protein 3 function. Blood. 1995 Sep 01; 86(5):1992-8. View Abstract

  35. A new therapeutic approach for sickle cell disease. Blockade of the red cell Ca(2+)-activated K+ channel by clotrimazole. Ann N Y Acad Sci. 1995 Jul 12; 763:262-71. View Abstract

  36. Oral administration of clotrimazole and blockade of human erythrocyte Ca(++)-activated K+ channel: the imidazole ring is not required for inhibitory activity. J Pharmacol Exp Ther. 1995 Apr; 273(1):266-72. View Abstract

  37. Sickle cell paths converge on hydroxyurea. Nat Med. 1995 Apr; 1(4):307-8. View Abstract

  38. HPLC measurement, blood distribution, and pharmacokinetics of oral clotrimazole, potentially useful antisickling agent. Clin Chem. 1995 Mar; 41(3):387-91. View Abstract

  39. Sickle reticulocytes adhere to VCAM-1. Blood. 1995 Jan 01; 85(1):268-74. View Abstract

  40. Mortality in sickle cell disease. Life expectancy and risk factors for early death. N Engl J Med. 1994 Jun 09; 330(23):1639-44. View Abstract

  41. Reticulocyte hemoglobin content (CHr): early indicator of iron deficiency and response to therapy. Blood. 1994 May 15; 83(10):3100-1. View Abstract

  42. Easing the suffering caused by sickle cell disease. N Engl J Med. 1994 Mar 17; 330(11):783-4. View Abstract

  43. Predicting medical student success in a clinical clerkship by rating students' nonverbal behavior. Arch Pediatr Adolesc Med. 1994 Feb; 148(2):213-9. View Abstract

  44. A highly conserved region of human erythrocyte ankyrin contains the capacity to bind spectrin. J Biol Chem. 1993 Nov 15; 268(32):24421-6. View Abstract

  45. Effect of context on the rating of students by faculty and housestaff in a clinical clerkship. Acad Med. 1992 Jul; 67(7):485. View Abstract

  46. Hydroxyurea: effects on hemoglobin F production in patients with sickle cell anemia. Blood. 1992 May 15; 79(10):2555-65. View Abstract

  47. Pain in sickle cell disease. Rates and risk factors. N Engl J Med. 1991 Jul 04; 325(1):11-6. View Abstract

  48. Toad urinary bladder epithelial cells contain an analogue of cytoskeletal protein 4.1. Am J Physiol. 1991 Jun; 260(6 Pt 1):C1308-14. View Abstract

  49. Reliability of Tanner stage assessments in a multi-center study. Am J Hum Biol. 1990; 2(5):503-510. View Abstract

  50. Pathology of membrane proteins in sickle erythrocytes. Ann N Y Acad Sci. 1989; 565:83-5. View Abstract

  51. Is there treatment for sickle cell anemia? N Engl J Med. 1988 Dec 01; 319(22):1479-80. View Abstract

  52. Membrane protein lesions in erythrocytes with Heinz bodies. J Clin Invest. 1988 Sep; 82(3):1051-8. View Abstract

  53. Influence of hydroxyurea on fetal hemoglobin production in vitro. Blood. 1987 Dec; 70(6):1824-9. View Abstract

  54. Cation depletion by the sodium pump in red cells with pathologic cation leaks. Sickle cells and xerocytes. J Clin Invest. 1986 Dec; 78(6):1487-96. View Abstract

  55. Pyruvate kinase deficiency in dog and human erythrocytes: effects of energy depletion on cation composition and cellular hydration. Am J Hematol. 1986 Nov; 23(3):217-21. View Abstract

  56. Variant chronic granulomatous disease: modulation of the neutrophil defect by severe infection. Blood. 1986 Oct; 68(4):914-9. View Abstract

  57. Mammalian reticulocytes lose adhesion to fibronectin during maturation to erythrocytes. Proc Natl Acad Sci U S A. 1985 Jan; 82(2):440-4. View Abstract

  58. Loss of adhesion of erythrocyte precursors to fibronectin during erythroid differentiation. Prog Clin Biol Res. 1985; 184:355-68. View Abstract

  59. Molecular defect in the sickle erythrocyte skeleton. Abnormal spectrin binding to sickle inside-our vesicles. J Clin Invest. 1985 Jan; 75(1):266-71. View Abstract

  60. Chemotherapy to increase fetal hemoglobin in patients with sickle cell anemia. Am J Pediatr Hematol Oncol. 1985; 7(3):258-60. View Abstract

  61. Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. J Clin Invest. 1984 Aug; 74(2):652-6. View Abstract

  62. Influence of sickle hemoglobinopathies on growth and development. N Engl J Med. 1984 Jul 05; 311(1):7-12. View Abstract

  63. Hydroxyurea increases fetal hemoglobin production in sickle cell anemia. Trans Assoc Am Physicians. 1984; 97:268-74. View Abstract

  64. Exercise-induced hemolysis in sickle cell anemia: shear sensitivity and erythrocyte dehydration. Blood. 1982 May; 59(5):1055-60. View Abstract

  65. Exercise-induced hemolysis in xerocytosis. Erythrocyte dehydration and shear sensitivity. J Clin Invest. 1981 Sep; 68(3):631-8. View Abstract

  66. Glycosylation of variant hemoglobins in normal and diabetic subjects. Diabetes Care. 1980 Sep-Oct; 3(5):590-3. View Abstract

  67. Isobutyl nitrite toxicity by ingestion. Ann Intern Med. 1980 May; 92(5):637-8. View Abstract

  68. Lung function in children with sickle cell anemia. Am Rev Respir Dis. 1979 Jul; 120(1):210-4. View Abstract

  69. Newborn bleeding disorders: a practical approach. Pediatr Ann. 1979 Jun; 8(6):55-67. View Abstract

  70. Energy reserve and cation composition of irreversibly sickled cells in vivo. Br J Haematol. 1978 Dec; 40(4):527-32. View Abstract

  71. Red blood cell size and glycolytic enzyme activity: relationship to number of intramedullary cell divisions. Pediatr Res. 1978 Apr; 12(4 Pt 1):308-9. View Abstract

  72. Haemolytic disorders of infancy. Clin Haematol. 1978 Feb; 7(1):35-61. View Abstract
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