| Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease M Nicolino, B Byrne, JE Wraith, N Leslie, H Mandel, DR Freyer, GL Arnold, ... Genetics in medicine 11 (3), 210-219, 2009 | 343 | 2009 |
| The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 DM Frazier, DS Millington, SE McCandless, DD Koeberl, SD Weavil, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2006 | 300 | 2006 |
| Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms … BS Andresen, SF Dobrowolski, L O'Reilly, J Muenzer, SE McCandless, ... The American Journal of Human Genetics 68 (6), 1408-1418, 2001 | 273 | 2001 |
| The burden of genetic disease on inpatient care in a children’s hospital SE McCandless, JW Brunger, SB Cassidy The American Journal of Human Genetics 74 (1), 121-127, 2004 | 269 | 2004 |
| A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome) J Muenzer, M Gucsavas-Calikoglu, SE McCandless, TJ Schuetz, ... Molecular genetics and metabolism 90 (3), 329-337, 2007 | 268 | 2007 |
| Health supervision for children with Prader-Willi syndrome SE McCandless, Committee on Genetics Pediatrics 127 (1), 195-204, 2011 | 227 | 2011 |
| Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate GA Diaz, LS Krivitzky, M Mokhtarani, W Rhead, J Bartley, A Feigenbaum, ... Hepatology 57 (6), 2171-2179, 2013 | 121 | 2013 |
| Molecular mechanism of Angelman syndrome in two large families involves an imprinting mutation T Ohta, K Buiting, H Kokkonen, S McCandless, S Heeger, H Leisti, ... The American Journal of Human Genetics 64 (2), 385-396, 1999 | 113 | 1999 |
| High prevalence of overweight and obesity in females with phenylketonuria LC Burrage, J McConnell, R Haesler, MA O'Riordan, VR Sutton, DS Kerr, ... Molecular genetics and metabolism 107 (1-2), 43-48, 2012 | 97 | 2012 |
| Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening DD Koeberl, DS Millington, WE Smith, SD Weavil, J Muenzer, ... Journal of inherited metabolic disease 26 (1), 25-35, 2003 | 97 | 2003 |
| Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium J Seminara, M Tuchman, L Krivitzky, J Krischer, HS Lee, C LeMons, ... Molecular genetics and metabolism 100, S97-S105, 2010 | 96 | 2010 |
| Effects of MetAP2 inhibition on hyperphagia and body weight in Prader–Willi syndrome: A randomized, double‐blind, placebo‐controlled trial SE McCandless, JA Yanovski, J Miller, C Fu, LM Bird, P Salehi, CL Chan, ... Diabetes, Obesity and Metabolism 19 (12), 1751-1761, 2017 | 93 | 2017 |
| Ammonia control in children ages 2 months through 5 years with urea cycle disorders: comparison of sodium phenylbutyrate and glycerol phenylbutyrate W Smith, GA Diaz, U Lichter-Konecki, SA Berry, CO Harding, ... The Journal of pediatrics 162 (6), 1228-1234. e1, 2013 | 83 | 2013 |
| DNA polymerase epsilon deficiency causes IMAGe syndrome with variable immunodeficiency CV Logan, JE Murray, DA Parry, A Robertson, R Bellelli, Ž Tarnauskaitė, ... The American Journal of Human Genetics 103 (6), 1038-1044, 2018 | 80 | 2018 |
| Betaine-homocysteine methyltransferase-2: cDNA cloning, gene sequence, physical mapping, and expression of the human and mouse genes LH Chadwick, SE McCandless, GL Silverman, S Schwartz, D Westaway, ... Genomics 70 (1), 66-73, 2000 | 80 | 2000 |
| Infantile hypermethioninemia and hyperhomocysteinemia due to high methionine intake: a diagnostic trap SH Mudd, N Braverman, M Pomper, K Tezcan, J Kronick, P Jayakar, ... Molecular genetics and metabolism 79 (1), 6-16, 2003 | 77 | 2003 |
| Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders M Mokhtarani, GA Diaz, W Rhead, U Lichter-Konecki, J Bartley, ... Molecular genetics and metabolism 107 (3), 308-314, 2012 | 70 | 2012 |
| Automated syndrome diagnosis by three-dimensional facial imaging B Hallgrímsson, JD Aponte, DC Katz, JJ Bannister, SL Riccardi, ... Genetics in Medicine 22 (10), 1682-1693, 2020 | 63 | 2020 |
| Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes SA Berry, U Lichter-Konecki, GA Diaz, SE McCandless, W Rhead, ... Molecular genetics and metabolism 112 (1), 17-24, 2014 | 63 | 2014 |
| Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder B Lee, GA Diaz, W Rhead, U Lichter-Konecki, A Feigenbaum, SA Berry, ... Genetics in medicine 17 (7), 561-568, 2015 | 62 | 2015 |
