| Maternal thyroid deficiency during pregnancy and subsequent neuropsychological development of the child JE Haddow, GE Palomaki, WC Allan, JR Williams, GJ Knight, J Gagnon, ... New England Journal of Medicine 341 (8), 549-555, 1999 | 3710 | 1999 |
| Patient-customized oligonucleotide therapy for a rare genetic disease J Kim, C Hu, C Moufawad El Achkar, LE Black, J Douville, A Larson, ... New England Journal of Medicine 381 (17), 1644-1652, 2019 | 758 | 2019 |
| Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis SE Waisbren, K Noel, K Fahrbach, C Cella, D Frame, A Dorenbaum, ... Molecular genetics and metabolism 92 (1-2), 63-70, 2007 | 471 | 2007 |
| Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress SE Waisbren, S Albers, S Amato, M Ampola, TG Brewster, L Demmer, ... Jama 290 (19), 2564-2572, 2003 | 429 | 2003 |
| Parents' reactions after the birth of a developmentally disabled child. SE Waisbren American Journal of Mental Deficiency 84 (4), 345-351, 1980 | 386 | 1980 |
| Phenylketonuria Scientific Review Conference: state of the science and future research needs KM Camp, MA Parisi, PB Acosta, GT Berry, DA Bilder, N Blau, ... Molecular genetics and metabolism 112 (2), 87-122, 2014 | 333 | 2014 |
| Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo, TW Yu, S Fayer, ... The American Journal of Human Genetics 104 (1), 76-93, 2019 | 318 | 2019 |
| Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations JM Chinsky, R Singh, C Ficicioglu, CDM Van Karnebeek, M Grompe, ... Genetics in Medicine 19 (12), 1380-1395, 2017 | 299 | 2017 |
| Expanded newborn screening for biochemical disorders: the effect of a false-positive result EA Gurian, DD Kinnamon, JJ Henry, SE Waisbren Pediatrics 117 (6), 1915-1921, 2006 | 291 | 2006 |
| International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up L Welling, LE Bernstein, GT Berry, AB Burlina, F Eyskens, M Gautschi, ... Journal of inherited metabolic disease 40 (2), 171-176, 2017 | 246 | 2017 |
| Effects of untreated maternal phenylketonuria and hyperphenylalaninemia on the fetus HL Levy, SE Waisbren New England Journal of Medicine 309 (21), 1269-1274, 1983 | 240 | 1983 |
| Psychiatric symptoms and disorders in phenylketonuria VL Brumm, D Bilder, SE Waisbren Molecular genetics and metabolism 99, S59-S63, 2010 | 229 | 2010 |
| The adult galactosemic phenotype SE Waisbren, NL Potter, CM Gordon, RC Green, P Greenstein, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2012 | 225 | 2012 |
| Relation of severity of maternal hypothyroidism to cognitive development of offspring RZ Klein, JD Sargent, PR Larsen, SE Waisbren, JE Haddow, ML Mitchell Journal of medical screening 8 (1), 18-20, 2001 | 219 | 2001 |
| The BabySeq project: implementing genomic sequencing in newborns IA Holm, PB Agrawal, O Ceyhan-Birsoy, KD Christensen, S Fayer, ... BMC pediatrics 18 (1), 225, 2018 | 206 | 2018 |
| A review of the psychosocial effects of false‐positive results on parents and current communication practices in newborn screening J Hewlett, SE Waisbren Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 206 | 2006 |
| A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations JK Gentile, WH Tan, LT Horowitz, CA Bacino, SA Skinner, ... Journal of Developmental & Behavioral Pediatrics 31 (7), 592-601, 2010 | 190 | 2010 |
| The maternal phenylketonuria international study: 1984–2002 R Koch, W Hanley, H Levy, K Matalon, R Matalon, B Rouse, F Trefz, ... Pediatrics 112 (Supplement_4), 1523-1529, 2003 | 190 | 2003 |
| Gender differences in research grant applications and funding outcomes for medical school faculty SE Waisbren, H Bowles, T Hasan, KH Zou, SJ Emans, C Goldberg, ... Journal of women's health 17 (2), 207-214, 2008 | 189 | 2008 |
| The natural history of classic galactosemia: lessons from the GalNet registry ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ... Orphanet Journal of Rare Diseases 14 (1), 86, 2019 | 168 | 2019 |
