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  1. Waisbren SE, Cuthbertson D, Burgard P, Holbert A, McCarter R, Cederbaum S. Biochemical markers and neuropsychological functioning in distal urea cycle disorders. J Inherit Metab Dis. 2018 Feb 08. View abstract
  2. Rajabi F, Rodan LH, Jonas MM, Soul JS, Ullrich NJ, Wessel A, Waisbren SE, Tan WH, Berry GT. Liver Failure as the Presentation of Ornithine Transcarbamylase Deficiency in a 13-Month-Old Female. JIMD Rep. 2017 Sep 09. View abstract
  3. Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genet Med. 2017 Dec; 19(12). View abstract
  4. García MI, Araya G, Coo S, Waisbren SE, de la Parra A. Treatment adherence during childhood in individuals with phenylketonuria: Early signs of treatment discontinuation. Mol Genet Metab Rep. 2017 Jun; 11:54-58. View abstract
  5. Welling L, Waisbren SE, Antshel KM, Colhoun HO, Gautschi M, Grünewald S, Holman R, van der Lee JH, Treacy EP, Bosch AM. Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical Galactosemia. JIMD Rep. 2017; 37:115-123. View abstract
  6. O'Donnell-Luria AH, Lin AP, Merugumala SK, Rohr F, Waisbren SE, Lynch R, Tchekmedyian V, Goldberg AD, Bellinger A, McFaline-Figueroa JR, Simon T, Gershanik EF, Levy BD, Cohen DE, Samuels MA, Berry GT, Frank NY. Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma. Mol Genet Metab. 2017 05; 121(1):9-15. View abstract
  7. Landau YE, Waisbren SE, Chan LM, Levy HL. Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease. J Inherit Metab Dis. 2017 Mar; 40(2):209-218. View abstract
  8. van Erven B, Welling L, van Calcar SC, Doulgeraki A, Eyskens F, Gribben J, Treacy EP, Vos R, Waisbren SE, Rubio-Gozalbo ME, Bosch AM. Bone Health in Classic Galactosemia: Systematic Review and Meta-Analysis. JIMD Rep. 2017; 35:87-96. View abstract
  9. Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017 Mar; 40(2):171-176. View abstract
  10. Waisbren SE, Prabhu SP, Greenstein P, Petty C, Schomer D, Anastasoaie V, Charette K, Rodriguez D, Merugumala S, Lin AP. Improved Measurement of Brain Phenylalanine and Tyrosine Related to Neuropsychological Functioning in Phenylketonuria. JIMD Rep. 2017; 34:77-86. View abstract
  11. 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 07; 39(4):573-84. View abstract
  12. 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 06; 118(2):65-9. View abstract
  13. 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. View abstract
  14. de la Parra A, García MI, Waisbren SE, Cornejo V, Raimann E. Cognitive functioning in mild hyperphenylalaninemia. Mol Genet Metab Rep. 2015 Dec; 5:72-75. View abstract
  15. 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. View abstract
  16. 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. View abstract
  17. 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. View abstract
  18. 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. View abstract
  19. 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. View abstract
  20. 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. View abstract
  21. 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. View abstract
  22. 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. View abstract
  23. 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. View abstract
  24. 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. View abstract
  25. 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. View abstract
  26. 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. View abstract
  27. 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. View abstract
  28. 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. View abstract
  29. 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. View abstract
  30. Peters SU, Bird LM, Kimonis V, Glaze DG, Shinawi LM, Bichell TJ, Barbieri-Welge R, Nespeca M, Anselm I, Waisbren S, Sanborn E, Sun Q, O'Brien WE, Beaudet AL, Bacino CA. Double-blind therapeutic trial in Angelman syndrome using betaine and folic acid. Am J Med Genet A. 2010 Aug; 152A(8):1994-2001. View abstract
  31. 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. View abstract
  32. 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. View abstract
  33. Koch R, Trefz F, Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 2010; 99 Suppl 1:S68-74. View abstract
  34. Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S59-63. View abstract
  35. 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. View abstract
  36. White DA, Waisbren S, van Spronsen FJ. The psychology and neuropathology of phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S1-2. View abstract
  37. White DA, Waisbren S, van Spronsen FJ. Final commentary: a new chapter. Mol Genet Metab. 2010; 99 Suppl 1:S106-7. View abstract
  38. 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. View abstract
  39. 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. View abstract
  40. 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. View abstract
  41. 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. View abstract
  42. 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. View abstract
  43. 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. View abstract
  44. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 01; 77(7):987-94. View abstract
  45. 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. View abstract
  46. 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. View abstract
  47. 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. View abstract
  48. 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. View abstract
  49. 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. View abstract
  50. Waisbren SE. Newborn screening for metabolic disorders. JAMA. 2006 Aug 23; 296(8):993-5. View abstract
  51. 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. View abstract
  52. Veloudaki A, Waisbren SE, Bailey I, Rohr F. PKU Tool Kit for Transition to Adult Healthcare. 2006. View abstract
  53. 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. View abstract
  54. Hewlett JM, Waisbren SE. Follow-up to Newborn Screening: A Guide for Parents. 2006. View abstract
  55. Hewlett JM, Waisbren SE. Newborn Screening Follow-up Question and Answer Fact Sheet. 2006. View abstract
  56. 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. View abstract
  57. 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. View abstract
  58. 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. View abstract
  59. 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. View abstract
  60. Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821. View abstract
  61. Levy HL, Yu JJ, Waisbren SE. Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis. 2004; 27(2):197-204. View abstract
  62. 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. View abstract
  63. 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. View abstract
  64. 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. View abstract
  65. 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. View abstract
  66. 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. View abstract
  67. 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. View abstract
  68. Waisbren SE, Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics. 2003 Dec; 112(6 Pt 2):1544-7. View abstract
  69. 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. View abstract
  70. Antshel KM, Waisbren SE. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. 2003 Jul; 17(3):458-68. View abstract
  71. 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. View abstract
  72. 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. View abstract
  73. 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. View abstract
  74. 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. View abstract
  75. 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. View abstract
  76. Fowler DJ, Picker J, Waisbren SE, Levy HL. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. View abstract
  77. 2002. View abstract
  78. 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. View abstract
  79. 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. View abstract
  80. 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. View abstract
  81. 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)). View abstract
  82. PKU Primer for Community Health Care Providers Treating Adolescents and Adults with PKU. 2001. View abstract
  83. 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. View abstract
  84. Waisbren SE. Comments on cognition and intelligence in phenylketonuria. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S80-1. View abstract
  85. Varvogli L, Repetto GM, Waisbren SE, Levy HL. High cognitive outcome in an adolescent with mut- methylmalonic acidemia. Am J Med Genet. 2000 Apr 03; 96(2):192-5. View abstract
  86. 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 09; 283(6):756-62. View abstract
  87. 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. View abstract
  88. 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. View abstract
  89. Varvogli L, Waisbren SE. Personality profiles of mothers of children with mitochondrial disorders. J Inherit Metab Dis. 1999 Jun; 22(5):615-22. View abstract
  90. St James PS, Shapiro E, Waisbren SE. The Resource Mothers Program for Maternal Phenylketonuria. Am J Public Health. 1999 May; 89(5):762-4. View abstract
  91. Waisbren SE. Developmental and neuropsychological outcome in children born to mothers with phenylketonuria. Mental Retardation and Developmental Disabilities Research Reviews. 1999; 5:125-131. View abstract
  92. 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. View abstract
  93. Waisbren SE. Breaking the barriers to full participation even when you have PKU. Family Futures Magazine. 1998; 2:19-21. View abstract
  94. 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. View abstract
  95. 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. View abstract
  96. 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. View abstract
  97. The Resource Mothers' Book. 1997. View abstract
  98. Rohr, F, Waisbren SE. Maternal PKU Treatment Plan. 1997. View abstract
  99. Skitnevsky SF, Brown M, Waisbren SE. Make a World of Difference: A Manual for Organizing a Maternal PKU Camp. 1997. View abstract
  100. 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. View abstract
  101. 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. View abstract
  102. 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. View abstract
  103. Newborn Screening and Societal Impact: A Case Study of Maternal PKU. 1995. View abstract
  104. 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. View abstract
  105. 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. View abstract
  106. Levy HL, Waisbren SE. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr Suppl. 1994 Dec; 407:92-7. View abstract
  107. Waisbren SE, Zaff J. Personality disorder in young women with treated phenylketonuria. J Inherit Metab Dis. 1994; 17(5):584-92. View abstract
  108. 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. View abstract
  109. Waisbren SE. Phenylketonuria. Handbook of Neurodevelopmental and Genetic Disorders in Children. 1993; 433-458. View abstract
  110. 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. View abstract
  111. Waisbren SE, Levy HL. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991; 14(5):755-64. View abstract
  112. 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. View abstract
  113. 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. View abstract
  114. Shiloh S, Waisbren SE, Levy HL. A psychosocial model of a medical problem: Maternal phenylketonuria. J Prim Prev. 1989 Sep; 10(1):51-62. View abstract
  115. 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. View abstract
  116. 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. View abstract
  117. 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. View abstract
  118. 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. View abstract
  119. 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. View abstract
  120. 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. View abstract
  121. 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. View abstract
  122. Waisbren SE. Parents' reactions after the birth of a developmentally disabled child. Am J Ment Defic. 1980 Jan; 84(4):345-51. View abstract
  123. 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. View abstract
  124. 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. View abstract
  125. Waisbren, SE. Parents' reactions after the birth of a developmentally delayed child. 1978. View abstract