| A randomized study of alglucosidase alfa in late-onset Pompe's disease AT Van der Ploeg, PR Clemens, D Corzo, DM Escolar, J Florence, ... New England Journal of Medicine 362 (15), 1396-1406, 2010 | 830 | 2010 |
| 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 | 253 | 2017 |
| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 PR Baker, MW Friederich, MA Swanson, T Shaikh, K Bhattacharya, ... Brain 137 (2), 366-379, 2014 | 247 | 2014 |
| A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B MM McGovern, MP Wasserstein, R Giugliani, B Bembi, MT Vanier, ... Pediatrics 122 (2), e341-e349, 2008 | 225 | 2008 |
| Newborn screening for Krabbe disease: the New York State model PK Duffner, M Caggana, JJ Orsini, DA Wenger, MC Patterson, CJ Crosley, ... Pediatric neurology 40 (4), 245-252, 2009 | 223 | 2009 |
| The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study MP Wasserstein, RJ Desnick, EH Schuchman, S Hossain, S Wallenstein, ... Pediatrics 114 (6), e672-e677, 2004 | 219 | 2004 |
| Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase … N Longo, CO Harding, BK Burton, DK Grange, J Vockley, M Wasserstein, ... The Lancet 384 (9937), 37-44, 2014 | 186 | 2014 |
| Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials MM McGovern, A Aron, SE Brodie, RJ Desnick, MP Wasserstein Neurology 66 (2), 228-232, 2006 | 185 | 2006 |
| The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations CM Simonaro, RJ Desnick, MM McGovern, MP Wasserstein, ... The American Journal of Human Genetics 71 (6), 1413-1419, 2002 | 183 | 2002 |
| The clinical sequencing evidence-generating research consortium: integrating genomic sequencing in diverse and medically underserved populations LM Amendola, JS Berg, CR Horowitz, F Angelo, JT Bensen, BB Biesecker, ... The American Journal of Human Genetics 103 (3), 319-327, 2018 | 152 | 2018 |
| The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants MP Wasserstein, M Caggana, SM Bailey, RJ Desnick, L Edelmann, ... Genetics in Medicine 21 (3), 631-640, 2019 | 150 | 2019 |
| Morbidity and mortality in type B Niemann–Pick disease MM McGovern, N Lippa, E Bagiella, EH Schuchman, RJ Desnick, ... Genetics in Medicine 15 (8), 618-623, 2013 | 150 | 2013 |
| Lipid abnormalities in children with types A and B Niemann Pick disease MM McGovern, T Pohl-Worgall, RJ Deckelbaum, W Simpson, ... The Journal of pediatrics 145 (1), 77-81, 2004 | 150 | 2004 |
| Types A and B niemann-pick disease EH Schuchman, MP Wasserstein Best practice & research Clinical endocrinology & metabolism 29 (2), 237-247, 2015 | 144 | 2015 |
| Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte JD Weisfeld-Adams, MA Morrissey, BM Kirmse, BR Salveson, ... Molecular genetics and metabolism 99 (2), 116-123, 2010 | 138 | 2010 |
| Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease MP Wasserstein, A Aron, SE Brodie, C Simonaro, RJ Desnick, ... The Journal of pediatrics 149 (4), 554-559, 2006 | 137 | 2006 |
| Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing1 DS Mendelson, MP Wasserstein, RJ Desnick, R Glass, W Simpson, ... Radiology 238 (1), 339-345, 2006 | 135 | 2006 |
| Newborn screening for X-linked adrenoleukodystrophy in New York State: diagnostic protocol, surveillance protocol and treatment guidelines BH Vogel, SE Bradley, DJ Adams, K D'Aco, RW Erbe, C Fong, A Iglesias, ... Molecular genetics and metabolism 114 (4), 599-603, 2015 | 131 | 2015 |
| Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria P Lee, EP Treacy, E Crombez, M Wasserstein, L Waber, J Wolff, ... American Journal of Medical Genetics Part A 146 (22), 2851-2859, 2008 | 127 | 2008 |
| Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months MP Wasserstein, GA Diaz, RH Lachmann, MH Jouvin, I Nandy, AJ Ji, ... Journal of inherited metabolic disease 41, 829-838, 2018 | 113 | 2018 |
