Medical Services

Programs

  • Fragile X Program
  • Metabolism Program

Experience and Education

Publications

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  1. Waisbren SE, Gropman AL, Batshaw ML. Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium. J Inherit Metab Dis. 2016 Jul; 39(4):573-84.
  2. Shapiro E, Bernstein J, Adams HR, Barbier AJ, Buracchio T, Como P, Delaney KA, Eichler F, Goldsmith JC, Hogan M, Kovacs S, Mink JW, Odenkirchen J, Parisi MA, Skrinar A, Waisbren SE, Mulberg AE. Neurocognitive clinical outcome assessments for inborn errors of metabolism and other rare conditions. Mol Genet Metab. 2016 Jun; 118(2):65-9.
  3. Waisbren SE, Weipert CM, Walsh RC, Petty CR, Green RC. Psychosocial Factors Influencing Parental Interest in Genomic Sequencing of Newborns. Pediatrics. 2016 Jan; 137 Suppl 1:S30-5.
  4. Waisbren SE, Rohr F, Anastasoaie V, Brown M, Harris D, Ozonoff A, Petrides S, Wessel A, Levy HL. Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal Characteristics. JIMD Rep. 2015; 21:23-33.
  5. Waisbren SE, He J, McCarter R. Assessing Psychological Functioning in Metabolic Disorders: Validation of the Adaptive Behavior Assessment System, Second Edition (ABAS-II), and the Behavior Rating Inventory of Executive Function (BRIEF) for Identification of Individuals at Risk. JIMD Rep. 2015; 21:35-43.
  6. Waisbren SE, Bäck DK, Liu C, Kalia SS, Ringer SA, Holm IA, Green RC. Parents are interested in newborn genomic testing during the early postpartum period. Genet Med. 2015 Jun; 17(6):501-4.
  7. Burton B, Grant M, Feigenbaum A, Singh R, Hendren R, Siriwardena K, Phillips J, Sanchez-Valle A, Waisbren S, Gillis J, Prasad S, Merilainen M, Lang W, Zhang C, Yu S, Stahl S. A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria. Mol Genet Metab. 2015 Mar; 114(3):415-24.
  8. Longo N, Siriwardena K, Feigenbaum A, Dimmock D, Burton BK, Stockler S, Waisbren S, Lang W, Jurecki E, Zhang C, Prasad S. Long-term developmental progression in infants and young children taking sapropterin for phenylketonuria: a two-year analysis of safety and efficacy. Genet Med. 2015 May; 17(5):365-73.
  9. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, Bodamer OA, Brosco JP, Brown CS, Burlina AB, Burton BK, Chang CS, Coates PM, Cunningham AC, Dobrowolski SF, Ferguson JH, Franklin TD, Frazier DM, Grange DK, Greene CL, Groft SC, Harding CO, Howell RR, Huntington KL, Hyatt-Knorr HD, Jevaji IP, Levy HL, Lichter-Konecki U, Lindegren ML, Lloyd-Puryear MA, Matalon K, MacDonald A, McPheeters ML, Mitchell JJ, Mofidi S, Moseley KD, Mueller CM, Mulberg AE, Nerurkar LS, Ogata BN, Pariser AR, Prasad S, Pridjian G, Rasmussen SA, Reddy UM, Rohr FJ, Singh RH, Sirrs SM, Stremer SE, Tagle DA, Thompson SM, Urv TK, Utz JR, van Spronsen F, Vockley J, Waisbren SE, Weglicki LS, White DA, Whitley CB, Wilfond BS, Yannicelli S, Young JM. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014 Jun; 112(2):87-122.
  10. Waisbren SE, Landau Y, Wilson J, Vockley J. Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screening. Dev Disabil Res Rev. 2013; 17(3):260-8.
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  12. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Erratum to: Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1157.
  13. Jumbo-Lucioni PP, Garber K, Kiel J, Baric I, Berry GT, Bosch A, Burlina A, Chiesa A, Pico ML, Estrada SC, Henderson H, Leslie N, Longo N, Morris AA, Ramirez-Farias C, Schweitzer-Krantz S, Scheweitzer-Krantz S, Silao CL, Vela-Amieva M, Waisbren S, Fridovich-Keil JL. Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes. J Inherit Metab Dis. 2012 Nov; 35(6):1037-49.
  14. Craig WY, Allan WC, Kloza EM, Pulkkinen AJ, Waisbren S, Spratt DI, Palomaki GE, Neveux LM, Haddow JE. Mid-gestational maternal free thyroxine concentration and offspring neurocognitive development at age two years. J Clin Endocrinol Metab. 2012 Jan; 97(1):E22-8.
  15. Bird LM, Tan WH, Bacino CA, Peters SU, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Gentile JK, Glaze DG, Horowitz LT, Mohan KN, Nespeca MP, Sahoo T, Sarco D, Waisbren SE, Beaudet AL. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet A. 2011 Dec; 155A(12):2956-63.
  16. Waisbren SE, Potter NL, Gordon CM, Green RC, Greenstein P, Gubbels CS, Rubio-Gozalbo E, Schomer D, Welt C, Anastasoaie V, D'Anna K, Gentile J, Guo CY, Hecht L, Jackson R, Jansma BM, Li Y, Lip V, Miller DT, Murray M, Power L, Quinn N, Rohr F, Shen Y, Skinder-Meredith A, Timmers I, Tunick R, Wessel A, Wu BL, Levy H, Elsas L, Berry GT. The adult galactosemic phenotype. J Inherit Metab Dis. 2012 Mar; 35(2):279-86.
  17. Gubbels CS, Maurice-Stam H, Berry GT, Bosch AM, Waisbren S, Rubio-Gozalbo ME, Grootenhuis MA. Psychosocial developmental milestones in men with classic galactosemia. J Inherit Metab Dis. 2011 Apr; 34(2):415-9.
  18. Yusupov R, Finegold DN, Naylor EW, Sahai I, Waisbren S, Levy HL. Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. Mol Genet Metab. 2010 Sep; 101(1):33-9.
  19. Koch R, Trefz F, Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 2010; 99 Suppl 1:S68-74.
  20. Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S59-63.
  21. Waisbren S, White DA. Screening for cognitive and social-emotional problems in individuals with PKU: tools for use in the metabolic clinic. Mol Genet Metab. 2010; 99 Suppl 1:S96-9.
  22. White DA, Waisbren S, van Spronsen FJ. The psychology and neuropathology of phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S1-2.
  23. White DA, Waisbren S, van Spronsen FJ. Final commentary: a new chapter. Mol Genet Metab. 2010; 99 Suppl 1:S106-7.
  24. Prosser LA, Ladapo JA, Rusinak D, Waisbren SE. Parental tolerance of false-positive newborn screening results. Arch Pediatr Adolesc Med. 2008 Sep; 162(9):870-6.
  25. Prosser LA, Ladapo JA, Rusinak D, Waisbren SE. Parental Tolerance for False-Positive Newborn Screening Results. Arch Ped Adol Med. 2008; 162(9):870-6.
  26. Anastasoaie V, Kurzius L, Forbes P, Waisbren S. Stability of blood phenylalanine levels and IQ in children with phenylketonuria. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):17-20.
  27. Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):39-45.
  28. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 1; 77(7):987-94.
  29. Waisbren SE, Bowles H, Hasan T, Zou KH, Emans SJ, Goldberg C, Gould S, Levine D, Lieberman E, Loeken M, Longtine J, Nadelson C, Patenaude AF, Quinn D, Randolph AG, Solet JM, Ullrich N, Walensky R, Weitzman P, Christou H. Gender differences in research grant applications and funding outcomes for medical school faculty. J Womens Health (Larchmt). 2008 Mar; 17(2):207-14.
  30. Young HK, Barton BA, Waisbren S, Portales Dale L, Ryan MM, Webster RI, North KN. Cognitive and psychological profile of males with Becker muscular dystrophy. J Child Neurol. 2008 Feb; 23(2):155-62.
  31. Waisbren SE, Noel K, Fahrbach K, Cella C, Frame D, Dorenbaum A, Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab. 2007 Sep-Oct; 92(1-2):63-70.
  32. Sahoo T, Bacino CA, German JR, Shaw CA, Bird LM, Kimonis V, Anselm I, Waisbren S, Beaudet AL, Peters SU. Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations. Eur J Hum Genet. 2007 Sep; 15(9):943-9.
  33. Waisbren SE, Noel K, Fahrback K, Cella C, Frame D, Dorembaum A, Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: A systematic literature review and meta-analysis. Molec Genet Metab. 2007; 92(1-2):63-70.
  34. Waisbren SE. Newborn screening for metabolic disorders. JAMA. 2006 Aug 23; 296(8):993-5.
  35. Hewlett J, Waisbren SE. A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening. J Inherit Metab Dis. 2006 Oct; 29(5):677-82.
  36. Veloudaki A, Waisbren SE, Bailey I, Rohr F. PKU Tool Kit for Transition to Adult Healthcare. 2006.
  37. Gurian EA, Kinnamon DD, Henry JJ, Waisbren SE. Expanded newborn screening for biochemical disorders: the effect of a false-positive result. Pediatrics. 2006 Jun; 117(6):1915-21.
  38. Hewlett JM, Waisbren SE. Follow-up to Newborn Screening: A Guide for Parents. 2006.
  39. Hewlett JM, Waisbren SE. Newborn Screening Follow-up Question and Answer Fact Sheet. 2006.
  40. Gennaccaro M, Waisbren SE, Marsden D. The knowledge gap in expanded newborn screening: survey results from paediatricians in Massachusetts. J Inherit Metab Dis. 2005; 28(6):819-24.
  41. Antshel KM, Epstein IO, Waisbren SE. Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology. 2004 Oct; 18(4):658-64.
  42. Waisbren SE, Rones M, Read CY, Marsden D, Levy HL. Brief report: Predictors of parenting stress among parents of children with biochemical genetic disorders. J Pediatr Psychol. 2004 Oct; 29(7):565-70.
  43. Antshel KM, Brewster S, Waisbren SE. Child and parent attributions in chronic pediatric conditions: phenylketonuria (PKU) as an exemplar. J Child Psychol Psychiatry. 2004 Mar; 45(3):622-30.
  44. Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821.
  45. Levy HL, Yu JJ, Waisbren SE. Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis. 2004; 27(2):197-204.
  46. Rohr F, Munier A, Sullivan D, Bailey I, Gennaccaro M, Levy H, Brereton H, Gleason S, Goss B, Lesperance E, Moseley K, Singh R, Tonyes L, Vespa H, Waisbren S. The Resource Mothers Study of Maternal Phenylketonuria: preliminary findings. J Inherit Metab Dis. 2004; 27(2):145-55.
  47. Hanley WB, Azen C, Koch R, Michals-Matalon K, Matalon R, Rouse B, Trefz F, Waisbren S, de la Cruz F. Maternal Phenylketonuria Collaborative Study (MPKUCS)--the 'outliers'. J Inherit Metab Dis. 2004; 27(6):711-23.
  48. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. Obstet Gynecol Surv. 2004; 59(6):415-417.
  49. Antshel KM, Waisbren SE. Developmental timing of exposure to elevated levels of phenylalanine is associated with ADHD symptom expression. J Abnorm Child Psychol. 2003 Dec; 31(6):565-74.
  50. Levy HL, Waisbren SE, Güttler F, Hanley WB, Matalon R, Rouse B, Trefz FK, de la Cruz F, Azen CG, Koch R. Pregnancy experiences in the woman with mild hyperphenylalaninemia. Pediatrics. 2003 Dec; 112(6 Pt 2):1548-52.
  51. Koch R, Hanley W, Levy H, Matalon K, Matalon R, Rouse B, Trefz F, Güttler F, Azen C, Platt L, Waisbren S, Widaman K, Ning J, Friedman EG, de la Cruz F. The Maternal Phenylketonuria International Study: 1984-2002. Pediatrics. 2003 Dec; 112(6 Pt 2):1523-9.
  52. Waisbren SE, Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics. 2003 Dec; 112(6 Pt 2):1544-7.
  53. Waisbren SE, Albers S, Amato S, Ampola M, Brewster TG, Demmer L, Eaton RB, Greenstein R, Korson M, Larson C, Marsden D, Msall M, Naylor EW, Pueschel S, Seashore M, Shih VE, Levy HL. Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. JAMA. 2003 Nov 19; 290(19):2564-72.
  54. Antshel KM, Waisbren SE. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. 2003 Jul; 17(3):458-68.
  55. Mitchell ML, Klein RZ, Sargent JD, Meter RA, Haddow JE, Waisbren SE, Faix JD. Iodine sufficiency and measurements of thyroid function in maternal hypothyroidism. Clin Endocrinol (Oxf). 2003 May; 58(5):612-6.
  56. Waisbren SE, Read CY, Ampola M, Brewster TG, Demmer L, Greenstein R, Ingham CL, Korson M, Msall M, Pueschel S, Seashore M, Shih VE, Levy HL. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis. 2002 Nov; 25(7):599-600.
  57. Antshel KM, Gurian EA, Waisbren SE. Maternal phenylketonuria: a case study suggesting the use of prenatal psychotherapy to help control phenylalanine levels. Am J Orthopsychiatry. 2002 Oct; 72(4):577-84.
  58. Levy HL, Vargas JE, Waisbren SE, Kurczynski TW, Roeder ER, Schwartz RS, Rosengren S, Prasad C, Greenberg CR, Gilfix BM, MacGregor D, Shih VE, Bao L, Kraus JP. Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency. J Inherit Metab Dis. 2002 Aug; 25(4):299-314.
  59. Brown AS, Fernhoff PM, Waisbren SE, Frazier DM, Singh R, Rohr F, Morris JM, Kenneson A, MacDonald P, Gwinn M, Honein M, Rasmussen SA. Barriers to successful dietary control among pregnant women with phenylketonuria. Genet Med. 2002 Mar-Apr; 4(2):84-9.
  60. Fowler DJ, Picker J, Waisbren SE, Levy HL. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628.
  61. www.childrenshospital.org/newenglandconsortium. 2002.
  62. Finkelson L, Bailey I, Waisbren SE. PKU adults and their return to diet: predicting diet continuation and maintenance. J Inherit Metab Dis. 2001 Aug; 24(4):515-6.
  63. Albers S, Waisbren SE, Ampola MG, Brewster TG, Burke LW, Demmer LA, Filiano J, Greenstein RM, Ingham CL, Korson MS, Marsden D, Schwartz RC, Seashore MR, Shih VE, Levy HL. New England Consortium: a model for medical evaluation of expanded newborn screening with tandem mass spectrometry. J Inherit Metab Dis. 2001 Apr; 24(2):303-4.
  64. Klein RZ, Sargent JD, Larsen PR, Waisbren SE, Haddow JE, Mitchell ML. Relation of severity of maternal hypothyroidism to cognitive development of offspring. J Med Screen. 2001; 8(1):18-20.
  65. Waisbren SE, Albers S, Marsden D, Bailey I, Finkelson L, Lobbregt D, Korson M, Levy H and the New England Consortium of Metabolic Programs. Expanded newborn screening for metabolic diosrders: a giant leap forward in preventive medicine or Pandora's box?. J Law, Med Ethics. 2001; 29(2 Suppl (11)).
  66. PKU Primer for Community Health Care Providers Treating Adolescents and Adults with PKU. 2001.
  67. Koch R, Friedman E, Azen C, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Waisbren S, Michals-Matalon K, Acosta P, Güttler F, Ullrich K, Platt L, de la Cruz F. The International Collaborative Study of Maternal Phenylketonuria: status report 1998. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S156-60.
  68. Waisbren SE. Comments on cognition and intelligence in phenylketonuria. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S80-1.
  69. Varvogli L, Repetto GM, Waisbren SE, Levy HL. High cognitive outcome in an adolescent with mut- methylmalonic acidemia. Am J Med Genet. 2000 Apr 3; 96(2):192-5.
  70. Waisbren SE, Hanley W, Levy HL, Shifrin H, Allred E, Azen C, Chang PN, Cipcic-Schmidt S, de la Cruz F, Hall R, Matalon R, Nanson J, Rouse B, Trefz F, Koch R. Outcome at age 4 years in offspring of women with maternal phenylketonuria: the Maternal PKU Collaborative Study. JAMA. 2000 Feb 9; 283(6):756-62.
  71. Vargas JE, Mudd SH, Waisbren SE, Levy HL. Maternal gamma-cystathionase deficiency: absence of both teratogenic effects and pregnancy complications. Am J Obstet Gynecol. 1999 Sep; 181(3):753-5.
  72. Haddow JE, Palomaki GE, Allan WC, Williams JR, Knight GJ, Gagnon J, O'Heir CE, Mitchell ML, Hermos RJ, Waisbren SE, Faix JD, Klein RZ. Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child. N Engl J Med. 1999 Aug 19; 341(8):549-55.
  73. Varvogli L, Waisbren SE. Personality profiles of mothers of children with mitochondrial disorders. J Inherit Metab Dis. 1999 Jun; 22(5):615-22.
  74. St James PS, Shapiro E, Waisbren SE. The Resource Mothers Program for Maternal Phenylketonuria. Am J Public Health. 1999 May; 89(5):762-4.
  75. Waisbren SE. Developmental and neuropsychological outcome in children born to mothers with phenylketonuria. Mental Retardation and Developmental Disabilities Research Reviews. 1999; 5:125-131.
  76. Waisbren SE, Chang P, Levy HL, Shifrin H, Allred E, Azen C, de la Cruz F, Hanley W, Koch R, Matalon R, Rouse B. Neonatal neurological assessment of offspring in maternal phenylketonuria. J Inherit Metab Dis. 1998 Feb; 21(1):39-48.
  77. Waisbren SE. Breaking the barriers to full participation even when you have PKU. Family Futures Magazine. 1998; 2:19-21.
  78. Waisbren SE, Rokni H, Bailey I, Rohr F, Brown T, Warner-Rogers J. Social factors and the meaning of food in adherence to medical diets: results of a maternal phenylketonuria summer camp. J Inherit Metab Dis. 1997 Mar; 20(1):21-7.
  79. Kim SZ, Varvogli L, Waisbren SE, Levy HL. Hydroxyprolinemia: comparison of a patient and her unaffected twin sister. J Pediatr. 1997 Mar; 130(3):437-41.
  80. Waisbren SE. Social support programs for individuals with PKU and their families. Proceedings of the 11th European Society for Phenylketonuria Annual Meeting. 1997; 11:11-15.
  81. The Resource Mothers' Book. 1997.
  82. Rohr, F, Waisbren SE. Maternal PKU Treatment Plan. 1997.
  83. Skitnevsky SF, Brown M, Waisbren SE. Make a World of Difference: A Manual for Organizing a Maternal PKU Camp. 1997.
  84. Levy HL, Waisbren SE, Lobbregt D, Allred E, Leviton A, Koch R, Hanley WB, Rouse B, Matalon R, de la Cruz F. Maternal non-phenylketonuric mild hyperphenylalaninemia. Eur J Pediatr. 1996 Jul; 155 Suppl 1:S20-5.
  85. Waisbren SE, Hamilton BD, St James PJ, Shiloh S, Levy HL. Psychosocial factors in maternal phenylketonuria: women's adherence to medical recommendations. Am J Public Health. 1995 Dec; 85(12):1636-41.
  86. Newborn Screening and Societal Impact: A Case Study of Maternal PKU. 1995.
  87. Levy HL, Waisbren SE, Lobbregt D, Allred E, Schuler A, Trefz FK, Schweitzer SM, Sardharwalla IB, Walter JH, Barwell BE, et al. Maternal mild hyperphenylalaninaemia: an international survey of offspring outcome. Lancet. 1994 Dec 10; 344(8937):1589-94.
  88. Waisbren SE, Brown MJ, de Sonneville LM, Levy HL. Review of neuropsychological functioning in treated phenylketonuria: an information processing approach. Acta Paediatr Suppl. 1994 Dec; 407:98-103.
  89. Levy HL, Waisbren SE. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr Suppl. 1994 Dec; 407:92-7.
  90. Waisbren SE, Zaff J. Personality disorder in young women with treated phenylketonuria. J Inherit Metab Dis. 1994; 17(5):584-92.
  91. St James PJ, Younger MD, Hamilton BD, Waisbren SE. Unplanned pregnancies in young women with diabetes. An analysis of psychosocial factors. Diabetes Care. 1993 Dec; 16(12):1572-8.
  92. Waisbren SE. Phenylketonuria. Handbook of Neurodevelopmental and Genetic Disorders in Children. 1993; 433-458.
  93. Waisbren SE, Shiloh S, St James P, Levy HL. Psychosocial factors in maternal phenylketonuria: prevention of unplanned pregnancies. Am J Public Health. 1991 Mar; 81(3):299-304.
  94. Waisbren SE, Levy HL. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991; 14(5):755-64.
  95. Shiloh S, St James P, Waisbren S. The development of a patient knowledge test on maternal phenylketonuria. Patient Educ Couns. 1990 Oct; 16(2):139-46.
  96. Waisbren SE, Levy HL. Effects of untreated maternal hyperphenylalaninemia on the fetus: further study of families identified by routine cord blood screening. J Pediatr. 1990 Jun; 116(6):926-9.
  97. Shiloh S, Waisbren SE, Levy HL. A psychosocial model of a medical problem: Maternal phenylketonuria. J Prim Prev. 1989 Sep; 10(1):51-62.
  98. Waisbren SE, Doherty LB, Bailey IV, Rohr FJ, Levy HL. The New England Maternal PKU Project: identification of at-risk women. Am J Public Health. 1988 Jul; 78(7):789-92.
  99. Waisbren SE, Mahon BE, Schnell RR, Levy HL. Predictors of intelligence quotient and intelligence quotient change in persons treated for phenylketonuria early in life. Pediatrics. 1987 Mar; 79(3):351-5.
  100. Rohr FJ, Doherty LB, Waisbren SE, Bailey IV, Ampola MG, Benacerraf B, Levy HL. New England Maternal PKU Project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr. 1987 Mar; 110(3):391-8.
  101. Levy HL, Waisbren SE. The PKU Paradigm: The mixed results from early dietary treatment. Amino Acids in Health and Disease: New Perspectives. 1987; 539-551.
  102. Waisbren SE, Schnell R, Levy HL. Intelligence and personality characteristics in adults with untreated atypical phenylketonuria and mild hyperphenylalaninemia. J Pediatr. 1984 Dec; 105(6):955-8.
  103. Levy HL, Waisbren SE. Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus. N Engl J Med. 1983 Nov 24; 309(21):1269-74.
  104. Waisbren SE, Norman TR, Schnell RR, Levy HL. Speech and language deficits in early-treated children with galactosemia. J Pediatr. 1983 Jan; 102(1):75-7.
  105. Waisbren SE. Parents' reactions after the birth of a developmentally disabled child. Am J Ment Defic. 1980 Jan; 84(4):345-51.
  106. Waisbren SE, Schnell RR, Levy HL. Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome. J Inherit Metab Dis. 1980; 3(4):149-53.
  107. Waisbren SE, Levy HL, Schnell RR. Diet termination in children with phenylketonuria. A review of psychological assessments used to determine outcome. J Inher Met Dis. 1980; 3:149-153.
  108. Waisbren, SE. Parents' reactions after the birth of a developmentally delayed child. 1978.
  109. Gentile JK, Tan WH, Horowitz LT, Bacino CA, Skinner SA, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Lee HS, Sahoo T, Waisbren SE, Bird LM, Peters SU. A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations. J Dev Behav Pediatr. 2010 Sep; 31(7):592-601.
  110. Tan WH, Bacino CA, Skinner SA, Anselm I, Barbieri-Welge R, Bauer-Carlin A, Beaudet AL, Bichell TJ, Gentile JK, Glaze DG, Horowitz LT, Kothare SV, Lee HS, Nespeca MP, Peters SU, Sahoo T, Sarco D, Waisbren SE, Bird LM. Angelman syndrome: Mutations influence features in early childhood. Am J Med Genet A. 2011 Jan; 155A(1):81-90.
  111. North KN, Korson MS, Gopal YR, Rohr FJ, Brazelton TB, Waisbren SE, Warman ML. Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J Pediatr. 1995 Jun; 126(6):916-22.
  112. Lipstein EA, Perrin JM, Waisbren SE, Prosser LA. Impact of false-positive newborn metabolic screening results on early health care utilization. Genet Med. 2009 Oct; 11(10):716-21.
  113. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105.
  114. 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.
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We are grateful to have been ranked #1 on U.S. News & World Report's list of the best children's hospitals in the nation for the third year in a row, an honor we could not have achieved without the patients and families who inspire us to do our very best for them. Thanks to you, Boston Children's is a place where we can write the greatest children's stories ever told.”
- Sandra L. Fenwick, President and CEO

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