| Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life RY Wang, A Lelis, J Mirocha, WR Wilcox Genetics in Medicine 9 (1), 34-45, 2007 | 356 | 2007 |
| Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals RY Wang, OA Bodamer, MS Watson, WR Wilcox, ... Genetics in Medicine 13 (5), 457-484, 2011 | 305 | 2011 |
| Syndromic ear anomalies and renal ultrasounds RY Wang, DL Earl, RO Ruder, JM Graham Jr Pediatrics 108 (2), e32-e32, 2001 | 199 | 2001 |
| The emerging phenotype of long-term survivors with infantile Pompe disease SN Prater, SG Banugaria, SM DeArmey, EG Botha, EM Stege, LE Case, ... Genetics in medicine 14 (9), 800-810, 2012 | 196 | 2012 |
| Clinical course of sly syndrome (mucopolysaccharidosis type VII) AM Montaño, N Lock-Hock, RD Steiner, BH Graham, M Szlago, ... Journal of medical genetics 53 (6), 403-418, 2016 | 187 | 2016 |
| Infants of diabetic mothers are at increased risk for the oculo-auriculo-vertebral sequence: a case-based and case-control approach R Wang, ML Martínez-Frías, JM Graham Jr The Journal of pediatrics 141 (5), 611-617, 2002 | 165 | 2002 |
| Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the … SG Banugaria, SN Prater, TT Patel, SM DeArmey, C Milleson, KB Sheets, ... PLoS One 8 (6), e67052, 2013 | 125 | 2013 |
| De novo pathogenic variants in CACNA1E cause developmental and epileptic encephalopathy with contractures, macrocephaly, and dyskinesias KL Helbig, RJ Lauerer, JC Bahr, IA Souza, CT Myers, B Uysal, N Schwarz, ... The American Journal of Human Genetics 103 (5), 666-678, 2018 | 119 | 2018 |
| Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal‐Onset Recurrent Metabolic Decompensation N Miyake, S Yano, C Sakai, H Hatakeyama, Y Matsushima, M Shiina, ... Human mutation 34 (3), 446-452, 2013 | 107 | 2013 |
| Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California NM Gallant, K Leydiker, H Tang, L Feuchtbaum, F Lorey, R Puckett, ... Molecular genetics and metabolism 106 (1), 55-61, 2012 | 85 | 2012 |
| Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders J Vockley, J Charrow, J Ganesh, M Eswara, GA Diaz, E McCracken, ... Molecular genetics and metabolism 119 (3), 223-231, 2016 | 83 | 2016 |
| Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms RL Puckett, F Lorey, P Rinaldo, MH Lipson, D Matern, ME Sowa, S Levine, ... Molecular genetics and metabolism 100 (2), 136-142, 2010 | 71 | 2010 |
| A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease P Harmatz, CB Whitley, RY Wang, M Bauer, W Song, C Haller, E Kakkis Molecular genetics and metabolism 123 (4), 488-494, 2018 | 69 | 2018 |
| Treatment reduces or stabilizes brain imaging abnormalities in patients with MPS I and II RY Wang, EJ Cambray-Forker, K Ohanian, DS Karlin, KK Covault, ... Molecular genetics and metabolism 98 (4), 406-411, 2009 | 65 | 2009 |
| Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease ZB Kazi, AK Desai, KL Berrier, RB Troxler, RY Wang, OA Abdul-Rahman, ... JCI insight 2 (16), 2017 | 61 | 2017 |
| ALG1‐CDG: clinical and molecular characterization of 39 unreported patients BG Ng, SA Shiryaev, D Rymen, EA Eklund, K Raymond, M Kircher, ... Human mutation 37 (7), 653-660, 2016 | 61 | 2016 |
| Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations A Morrone, KL Tylee, M Al-Sayed, AC Brusius-Facchin, A Caciotti, ... Molecular genetics and metabolism 112 (2), 160-170, 2014 | 61 | 2014 |
| Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy PT McIntosh, LD Hobson-Webb, ZB Kazi, SN Prater, SG Banugaria, ... Molecular genetics and metabolism 123 (2), 85-91, 2018 | 51 | 2018 |
| Unique medical issues in adult patients with mucopolysaccharidoses J Mitchell, KI Berger, A Borgo, EA Braunlin, BK Burton, KA Ghotme, ... European journal of internal medicine 34, 2-10, 2016 | 49 | 2016 |
| Pentosan polysulfate: oral versus subcutaneous injection in mucopolysaccharidosis type I dogs CM Simonaro, S Tomatsu, T Sikora, F Kubaski, M Frohbergh, JM Guevara, ... PloS one 11 (4), e0153136, 2016 | 47 | 2016 |
