Harvard Catalyst Profiles

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Susan Ellen Waisbren, Ph.D.


The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R01HG002085 (WAISBREN, SUSAN E) May 1, 2000 - Nov 30, 2006
    Expanded Newborn Screening for Metabolic Disorders
    Role: Principal Investigator

Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Chapman KA, MacEachern D, Cox GF, Waller M, Fogarty J, Granger S, Stepanians M, Waisbren S. Neuropsychological endpoints for clinical trials in methylmalonic acidemia and propionic acidemia: A pilot study. Mol Genet Metab Rep. 2023 Mar; 34:100953. PMID: 36659999; PMCID: PMC9842695.
  2. Rohr F, Wessel A, Harding CO, Waisbren SE, Viau K, Kritzer A. Reinstitution of pegvaliase therapy during lactation. Mol Genet Metab Rep. 2022 Dec; 33:100938. PMID: 36420422; PMCID: PMC9676276.
  3. Waisbren SE. Review of neuropsychological outcomes in isolated methylmalonic acidemia: recommendations for assessing impact of treatments. Metab Brain Dis. 2022 06; 37(5):1317-1335. PMID: 35348993.
    Citations:    Fields:    Translation:Humans
  4. Yee KS, Wu Y, Harrington M, Waisbren SE. Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II. Orphanet J Rare Dis. 2021 12 04; 16(1):501. PMID: 34863240; PMCID: PMC8643008.
    Citations:    Fields:    Translation:Humans
  5. Bilder DA, Arnold GL, Dimmock D, Grant ML, Janzen D, Longo N, Nguyen-Driver M, Jurecki E, Merilainen M, Amato G, Waisbren S. Improved attention linked to sustained phenylalanine reduction in adults with early-treated phenylketonuria. Am J Med Genet A. 2022 03; 188(3):768-778. PMID: 34826353; PMCID: PMC9299696.
    Citations: 1     Fields:    Translation:Humans
  6. Pereira S, Smith HS, Frankel LA, Christensen KD, Islam R, Robinson JO, Genetti CA, Blout Zawatsky CL, Zettler B, Parad RB, Waisbren SE, Beggs AH, Green RC, Holm IA, McGuire AL. Psychosocial Effect of Newborn Genomic Sequencing on Families in the BabySeq Project: A Randomized Clinical Trial. JAMA Pediatr. 2021 11 01; 175(11):1132-1141. PMID: 34424265; PMCID: PMC8383160.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  7. Ramos-Álvarez R, Kapp M, Rodríguez-Ruiz MM, Fausor R, Bueno-Delgado MA, Ahring K, Waisbren SE. Adaptation and Validation of a Questionnaire to Evaluate Knowledge of the Low Phe Diet in PKU. Nutrients. 2021 Aug 07; 13(8). PMID: 34444879.
    Citations:    Fields:    Translation:Humans
  8. Waisbren SE, Tran C, Demirbas D, Gubbels CS, Hsiao M, Daesety V, Berry GT. Transient developmental delays in infants with Duarte-2 variant galactosemia. Mol Genet Metab. 2021 Sep-Oct; 134(1-2):132-138. PMID: 34391645.
    Citations: 1     Fields:    Translation:Humans
  9. Schwartz TS, Christensen KD, Uveges MK, Waisbren SE, McGuire AL, Pereira S, Robinson JO, Beggs AH, Green RC, Bachmann GA, Rabson AB, Holm IA. Effects of participation in a U.S. trial of newborn genomic sequencing on parents at risk for depression. J Genet Couns. 2022 02; 31(1):218-229. PMID: 34309124; PMCID: PMC8789951.
    Citations:    Fields:    Translation:Humans
  10. Chen HF, Rose AM, Waisbren S, Ahmad A, Prosser LA. Newborn Screening and Treatment of Phenylketonuria: Projected Health Outcomes and Cost-Effectiveness. Children (Basel). 2021 May 12; 8(5). PMID: 34065950.
    Citations: 1     
  11. Waisbren S, Burton BK, Feigenbaum A, Konczal LL, Lilienstein J, McCandless SE, Rowell R, Sanchez-Valle A, Whitehall KB, Longo N. Long-term preservation of intellectual functioning in sapropterin-treated infants and young children with phenylketonuria: A seven-year analysis. Mol Genet Metab. 2021 02; 132(2):119-127. PMID: 33485801.
    Citations: 2     Fields:    Translation:Humans
  12. Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. PMID: 33211814.
    Citations: 7     Fields:    Translation:Humans
  13. Ahtam B, Waisbren SE, Anastasoaie V, Berry GT, Brown M, Petrides S, Afacan O, Prabhu SP, Schomer D, Grant PE, Greenstein PE. Identification of neuronal structures and pathways corresponding to clinical functioning in galactosemia. J Inherit Metab Dis. 2020 11; 43(6):1205-1218. PMID: 32592186.
    Citations: 2     Fields:    Translation:HumansCells
  14. Wojcik MH, Stewart JE, Waisbren SE, Litt JS. Developmental Support for Infants With Genetic Disorders. Pediatrics. 2020 05; 145(5). PMID: 32327449; PMCID: PMC7193975.
    Citations: 2     Fields:    Translation:Humans
  15. Christ SE, Clocksin HE, Burton BK, Grant ML, Waisbren S, Paulin MC, Bilder DA, White DA, Saville C. Executive function in phenylketonuria (PKU): Insights from the Behavior Rating Inventory of Executive Function (BRIEF) and a large sample of individuals with PKU. Neuropsychology. 2020 May; 34(4):456-466. PMID: 32202818.
    Citations: 2     Fields:    Translation:Humans
  16. Han J, Bichell TJ, Golden S, Anselm I, Waisbren S, Bacino CA, Peters SU, Bird LM, Kimonis V. A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. Orphanet J Rare Dis. 2019 10 22; 14(1):232. PMID: 31640736.
    Citations: 1     Fields:    Translation:Humans
  17. Kim J, Hu C, Moufawad El Achkar C, Black LE, Douville J, Larson A, Pendergast MK, Goldkind SF, Lee EA, Kuniholm A, Soucy A, Vaze J, Belur NR, Fredriksen K, Stojkovska I, Tsytsykova A, Armant M, DiDonato RL, Choi J, Cornelissen L, Pereira LM, Augustine EF, Genetti CA, Dies K, Barton B, Williams L, Goodlett BD, Riley BL, Pasternak A, Berry ER, Pflock KA, Chu S, Reed C, Tyndall K, Agrawal PB, Beggs AH, Grant PE, Urion DK, Snyder RO, Waisbren SE, Poduri A, Park PJ, Patterson A, Biffi A, Mazzulli JR, Bodamer O, Berde CB, Yu TW. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease. N Engl J Med. 2019 10 24; 381(17):1644-1652. PMID: 31597037; PMCID: PMC6961983.
    Citations: 157     Fields:    Translation:Humans
  18. Waisbren SE, Stefanatos AK, Kok TMY, Ozturk-Hismi B. Neuropsychological attributes of urea cycle disorders: A systematic review of the literature. J Inherit Metab Dis. 2019 11; 42(6):1176-1191. PMID: 31268178; PMCID: PMC7250134.
    Citations: 4     Fields:    Translation:Humans
  19. Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. PMID: 31029175; PMCID: PMC6486996.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  20. Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. PMID: 31240156; PMCID: PMC6498818.
    Citations: 2     
  21. Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. PMID: 30718057.
    Citations: 1     Fields:    Translation:HumansCells
  22. Buerger C, Garbade SF, Dietrich Alber F, Waisbren SE, McCarter R, Kölker S, Burgard P. Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events. J Inherit Metab Dis. 2019 03; 42(2):243-253. PMID: 30671983; PMCID: PMC7439789.
    Citations: 6     Fields:    Translation:Humans
  23. Almuqbil MA, Waisbren SE, Levy HL, Picker JD. Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831. PMID: 30643218.
    Citations: 4     Fields:    Translation:HumansAnimals
  24. Genetti CA, Schwartz TS, Robinson JO, VanNoy GE, Petersen D, Pereira S, Fayer S, Peoples HA, Agrawal PB, Betting WN, Holm IA, McGuire AL, Waisbren SE, Yu TW, Green RC, Beggs AH, Parad RB. Parental interest in genomic sequencing of newborns: enrollment experience from the BabySeq Project. Genet Med. 2019 03; 21(3):622-630. PMID: 30209271; PMCID: PMC6420384.
    Citations: 19     Fields:    Translation:HumansPHPublic Health
  25. Burton BK, Jones KB, Cederbaum S, Rohr F, Waisbren S, Irwin DE, Kim G, Lilienstein J, Alvarez I, Jurecki E, Levy H. Prevalence of comorbid conditions among adult patients diagnosed with phenylketonuria. Mol Genet Metab. 2018 11; 125(3):228-234. PMID: 30266197.
    Citations: 16     Fields:    Translation:Humans
  26. Holm IA, Agrawal PB, Ceyhan-Birsoy O, Christensen KD, Fayer S, Frankel LA, Genetti CA, Krier JB, LaMay RC, Levy HL, McGuire AL, Parad RB, Park PJ, Pereira S, Rehm HL, Schwartz TS, Waisbren SE, Yu TW, Green RC, Beggs AH. The BabySeq project: implementing genomic sequencing in newborns. BMC Pediatr. 2018 07 09; 18(1):225. PMID: 29986673.
    Citations: 37     Fields:    Translation:HumansPHPublic Health
  27. 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 07; 41(4):657-667. PMID: 29423830; PMCID: PMC6041144.
    Citations: 14     Fields:    Translation:Humans
  28. 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. 2018; 40:17-22. PMID: 28887792; PMCID: PMC6122020.
    Citations: 1     
  29. 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 12; 19(12). PMID: 28771246; PMCID: PMC5729346.
    Citations: 52     Fields:    Translation:HumansPHPublic Health
  30. 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. PMID: 28491816; PMCID: PMC5412103.
    Citations: 6     
  31. 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. PMID: 28391442; PMCID: PMC5740047.
    Citations: 5     
  32. 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. PMID: 28408159.
    Citations: 4     Fields:    Translation:Humans
  33. 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 03; 40(2):209-218. PMID: 28054209.
    Citations: 11     Fields:    Translation:HumansPHPublic Health
  34. 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. PMID: 27995581; PMCID: PMC5585100.
    Citations: 6     
  35. 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 03; 40(2):171-176. PMID: 27858262; PMCID: PMC5306419.
    Citations: 34     Fields:    Translation:Humans
  36. 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. PMID: 27677920; PMCID: PMC5509554.
    Citations: 3     
  37. 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. PMID: 27215558; PMCID: PMC4921309.
    Citations: 28     Fields:    Translation:Humans
  38. 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. PMID: 27132782; PMCID: PMC4895194.
    Citations: 12     Fields:    Translation:Humans
  39. 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. PMID: 26729701; PMCID: PMC9923974.
    Citations: 9     Fields:    Translation:HumansPHPublic Health
  40. 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. PMID: 28649547; PMCID: PMC5471391.
  41. 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. PMID: 25712380; PMCID: PMC4470942.
    Citations: 6     
  42. 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. PMID: 25712381; PMCID: PMC4470946.
    Citations: 7     
  43. 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. PMID: 25474344; PMCID: PMC4452417.
    Citations: 16     Fields:    Translation:HumansPHPublic Health
  44. 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. PMID: 25533024.
    Citations: 12     Fields:    Translation:Humans
  45. 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. PMID: 25232857.
    Citations: 9     Fields:    Translation:HumansCTClinical Trials
  46. 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. PMID: 24667081.
    Citations: 78     Fields:    Translation:Humans
  47. 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. PMID: 23798014.
    Citations: 12     Fields:    Translation:HumansCellsPHPublic Health
  48. 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. PMID: 22777401.
  49. 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. PMID: 22450714.
    Citations: 27     Fields:    Translation:HumansPHPublic Health
  50. 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. PMID: 22031521; PMCID: PMC3251941.
    Citations: 28     Fields:    Translation:Humans
  51. 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. PMID: 22002941.
    Citations: 18     Fields:    Translation:HumansCellsCTClinical Trials
  52. 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. PMID: 21779791.
    Citations: 66     Fields:    Translation:HumansPHPublic Health
  53. 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. PMID: 21350966.
    Citations: 12     Fields:    Translation:Humans
  54. 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. PMID: 21204213.
    Citations: 43     Fields:    Translation:HumansCells
  55. 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. PMID: 20729760.
    Citations: 49     Fields:    Translation:HumansCells
  56. 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. PMID: 20635355.
    Citations: 19     Fields:    Translation:HumansCells
  57. 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. PMID: 20580581.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  58. 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. PMID: 20188616.
    Citations: 43     Fields:    Translation:Humans
  59. White DA, Waisbren S, van Spronsen FJ. The psychology and neuropathology of phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S1-2. PMID: 20123461.
    Citations: 6     Fields:    Translation:Humans
  60. White DA, Waisbren S, van Spronsen FJ. Final commentary: a new chapter. Mol Genet Metab. 2010; 99 Suppl 1:S106-7. PMID: 20123464.
    Citations:    Fields:    Translation:Humans
  61. Koch R, Trefz F, Waisbren S. Psychosocial issues and outcomes in maternal PKU. Mol Genet Metab. 2010; 99 Suppl 1:S68-74. PMID: 20123474.
    Citations: 9     Fields:    Translation:Humans
  62. Brumm VL, Bilder D, Waisbren SE. Psychiatric symptoms and disorders in phenylketonuria. Mol Genet Metab. 2010; 99 Suppl 1:S59-63. PMID: 20123472.
    Citations: 43     Fields:    Translation:Humans
  63. 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. PMID: 20123479.
    Citations: 8     Fields:    Translation:Humans
  64. 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. PMID: 19661808; PMCID: PMC2773165.
    Citations: 21     Fields:    Translation:HumansPHPublic Health
  65. 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. PMID: 18812404; PMCID: PMC2680125.
    Citations: 18     Fields:    Translation:HumansAnimals
  66. 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. PMID: 18762606.
    Citations: 16     Fields:    Translation:HumansPHPublic Health
  67. 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.
  68. 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. PMID: 18703366.
    Citations: 24     Fields:    Translation:Humans
  69. 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. PMID: 18676165.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  70. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 01; 77(7):987-94. PMID: 18441864.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  71. 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. PMID: 18321172.
    Citations: 36     Fields:    Translation:Humans
  72. 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. PMID: 18056690.
    Citations: 29     Fields:    Translation:Humans
  73. 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. PMID: 17591452.
    Citations: 91     Fields:    Translation:Humans
  74. 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. PMID: 17522620.
    Citations: 38     Fields:    Translation:HumansCells
  75. 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.
  76. Waisbren SE. Newborn screening for metabolic disorders. JAMA. 2006 Aug 23; 296(8):993-5. PMID: 16926360.
    Citations: 6     Fields:    Translation:HumansPHPublic Health
  77. 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. PMID: 16917730.
    Citations: 44     Fields:    Translation:HumansPHPublic Health
  78. Veloudaki A, Waisbren SE, Bailey I, Rohr F. PKU Tool Kit for Transition to Adult Healthcare. 2006.
  79. 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. PMID: 16740831.
    Citations: 65     Fields:    Translation:HumansPHPublic Health
  80. Hewlett JM, Waisbren SE. Follow-up to Newborn Screening: A Guide for Parents. 2006.
  81. Hewlett JM, Waisbren SE. Newborn Screening Follow-up Question and Answer Fact Sheet. 2006.
  82. 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. PMID: 16435173.
    Citations: 13     Fields:    Translation:HumansPHPublic Health
  83. 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. PMID: 15347704.
    Citations: 15     Fields:    Translation:Humans
  84. 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. PMID: 15506833.
    Citations: 32     Fields:    Translation:Humans
  85. 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. PMID: 15055380.
    Citations: 3     Fields:    Translation:Humans
  86. Waisbren SE, Levy HL. Expanded screening of newborns for genetic disorders. JAMA. 2004 Feb 18; 291(7):820-1; author reply 821. PMID: 14970058.
    Citations:    Fields:    Translation:HumansPHPublic Health
  87. 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. PMID: 15159645.
    Citations: 9     Fields:    Translation:HumansCTClinical Trials
  88. 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. PMID: 15505376.
    Citations: 1     Fields:    Translation:Humans
  89. Levy HL, Yu JJ, Waisbren SE. Maternal histidinaemia: pregnancies and offspring outcomes. J Inherit Metab Dis. 2004; 27(2):197-204. PMID: 15159650.
    Citations: 3     Fields:    Translation:Humans
  90. 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.
  91. 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. PMID: 14654663.
    Citations: 10     Fields:    Translation:Humans
  92. 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. PMID: 14658738.
    Citations: 12     Fields:    Translation:Humans
  93. 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. PMID: 14654658.
    Citations: 36     Fields:    Translation:HumansCTClinical Trials
  94. Waisbren SE, Azen C. Cognitive and behavioral development in maternal phenylketonuria offspring. Pediatrics. 2003 Dec; 112(6 Pt 2):1544-7. PMID: 14654662.
    Citations: 9     Fields:    Translation:Humans
  95. 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. PMID: 14625333.
    Citations: 99     Fields:    Translation:HumansPHPublic Health
  96. Antshel KM, Waisbren SE. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology. 2003 Jul; 17(3):458-68. PMID: 12959512.
    Citations: 11     Fields:    Translation:Humans
  97. 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. PMID: 12699443.
    Citations: 4     Fields:    Translation:Humans
  98. 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. PMID: 12638945.
    Citations: 5     Fields:    Translation:HumansPHPublic Health
  99. 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. PMID: 15792042.
    Citations: 2     Fields:    Translation:Humans
  100. 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. PMID: 12227460.
    Citations: 11     Fields:    Translation:Humans
  101. 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. PMID: 11882785.
    Citations: 10     Fields:    Translation:Humans
  102. Fowler DJ, Picker J, Waisbren SE, Levy HL. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. PMID: 11867144.
    Citations:    Fields:    Translation:HumansPHPublic Health
  103. www.childrenshospital.org/newenglandconsortium. 2002.
  104. 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. PMID: 11596658.
    Citations: 9     Fields:    Translation:Humans
  105. 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. PMID: 11405349.
    Citations: 3     Fields:    Translation:HumansPHPublic Health
  106. 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. PMID: 11373843.
    Citations: 27     Fields:    Translation:Humans
  107. 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)).
  108. PKU Primer for Community Health Care Providers Treating Adolescents and Adults with PKU. 2001.
  109. 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. PMID: 11043164.
    Citations: 13     Fields:    Translation:Humans
  110. Waisbren SE. Comments on cognition and intelligence in phenylketonuria. Eur J Pediatr. 2000 Oct; 159 Suppl 2:S80-1. PMID: 11043150.
    Citations:    Fields:    Translation:Humans
  111. 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. PMID: 10893496.
    Citations: 5     Fields:    Translation:Humans
  112. 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. PMID: 10683054.
    Citations: 8     Fields:    Translation:Humans
  113. 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. PMID: 10486496.
    Citations: 6     Fields:    Translation:Humans
  114. 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. PMID: 10451459.
    Citations: 454     Fields:    Translation:Humans
  115. Varvogli L, Waisbren SE. Personality profiles of mothers of children with mitochondrial disorders. J Inherit Metab Dis. 1999 Jun; 22(5):615-22. PMID: 10399094.
    Citations: 4     Fields:    Translation:Humans
  116. St James PS, Shapiro E, Waisbren SE. The Resource Mothers Program for Maternal Phenylketonuria. Am J Public Health. 1999 May; 89(5):762-4. PMID: 10224992; PMCID: PMC1508738.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  117. Waisbren SE. Developmental and neuropsychological outcome in children born to mothers with phenylketonuria. Mental Retardation and Developmental Disabilities Research Reviews. 1999; 5:125-131.
  118. 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. PMID: 9501268.
    Citations: 2     Fields:    Translation:Humans
  119. Waisbren SE. Breaking the barriers to full participation even when you have PKU. Family Futures Magazine. 1998; 2:19-21.
  120. 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. PMID: 9061563.
    Citations: 3     Fields:    Translation:Humans
  121. 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. PMID: 9063421.
    Citations: 5     Fields:    Translation:Humans
  122. 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.
  123. Skitnevsky SF, Brown M, Waisbren SE. Make a World of Difference: A Manual for Organizing a Maternal PKU Camp. 1997.
  124. Rohr, F, Waisbren SE. Maternal PKU Treatment Plan. 1997.
  125. The Resource Mothers' Book. 1997.
  126. 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. PMID: 8828603.
    Citations: 2     Fields:    Translation:Humans
  127. 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. PMID: 7503337; PMCID: PMC1615717.
    Citations: 7     Fields:    Translation:Humans
  128. 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. PMID: 7539836.
    Citations: 18     Fields:    Translation:Humans
  129. Newborn Screening and Societal Impact: A Case Study of Maternal PKU. 1995.
  130. 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. PMID: 7983992.
    Citations: 6     Fields:    Translation:Humans
  131. 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. PMID: 7766971.
    Citations: 15     Fields:    Translation:Humans
  132. Levy HL, Waisbren SE. PKU in adolescents: rationale and psychosocial factors in diet continuation. Acta Paediatr Suppl. 1994 Dec; 407:92-7. PMID: 7766970.
    Citations: 13     Fields:    Translation:Humans
  133. Waisbren SE, Zaff J. Personality disorder in young women with treated phenylketonuria. J Inherit Metab Dis. 1994; 17(5):584-92. PMID: 7837765.
    Citations: 9     Fields:    Translation:Humans
  134. 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. PMID: 8299452.
    Citations: 13     Fields:    Translation:Humans
  135. Waisbren SE. Phenylketonuria. Handbook of Neurodevelopmental and Genetic Disorders in Children. 1993; 433-458.
  136. 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. PMID: 1994738; PMCID: PMC1405020.
    Citations: 6     Fields:    Translation:Humans
  137. Waisbren SE, Levy HL. Agoraphobia in phenylketonuria. J Inherit Metab Dis. 1991; 14(5):755-64. PMID: 1779621.
    Citations: 14     Fields:    Translation:Humans
  138. 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. PMID: 2290768.
    Citations: 4     Fields:    Translation:Humans
  139. 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. PMID: 2348297.
    Citations: 6     Fields:    Translation:Humans
  140. Shiloh S, Waisbren SE, Levy HL. A psychosocial model of a medical problem: Maternal phenylketonuria. J Prim Prev. 1989 Sep; 10(1):51-62. PMID: 24264562.
    Citations: 1     Fields:    
  141. 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. PMID: 3381953; PMCID: PMC1350334.
    Citations: 6     Fields:    Translation:Humans
  142. 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. PMID: 3819940.
    Citations: 16     Fields:    Translation:Humans
  143. 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. PMID: 3822635.
    Citations: 17     Fields:    Translation:Humans
  144. 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.
  145. 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. PMID: 6502349.
    Citations: 10     Fields:    Translation:Humans
  146. 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. PMID: 6633585.
    Citations: 36     Fields:    Translation:Humans
  147. 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. PMID: 6848731.
    Citations: 26     Fields:    Translation:Humans
  148. 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. PMID: 6787336.
    Citations: 20     Fields:    Translation:Humans
  149. 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.
  150. Waisbren SE. Parents' reactions after the birth of a developmentally disabled child. Am J Ment Defic. 1980 Jan; 84(4):345-51. PMID: 6444494.
    Citations: 15     Fields:    Translation:Humans
  151. Waisbren, SE. Parents' reactions after the birth of a developmentally delayed child. 1978.
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