| Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the … S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ... Genetics in medicine 17 (5), 405-423, 2015 | 24871 | 2015 |
| ACMG Laboratory Quality Assurance Committee Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of … S Richards, N Aziz, S Bale, D Bick, S Das, J Gastier-Foster, WW Grody, ... Genet Med 17 (5), 405-424, 2015 | 1254 | 2015 |
| 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 | 230 | 2014 |
| Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype GA Bellus, EB Spector, PW Speiser, CA Weaver, AT Garber, CR Bryke, ... The American Journal of Human Genetics 67 (6), 1411-1421, 2000 | 208 | 2000 |
| Technical standards and guidelines for Huntington disease testing NT Potter, EB Spector, TW Prior Genetics in Medicine 6 (1), 61-65, 2004 | 158 | 2004 |
| A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort GV Putcha, BA Bejjani, S Bleoo, JK Booker, JC Carey, N Carson, S Das, ... Genetics in Medicine 9 (7), 413-426, 2007 | 148 | 2007 |
| ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the … KG Monaghan, E Lyon, EB Spector Genetics in Medicine 15 (7), 575-586, 2013 | 143 | 2013 |
| Hyperargininemia with arginase deficiency SD Cederbaum, KNF Shaw, EB Spector, MA Verity, PJ Snodgrass, ... Pediatric research 13 (7), 827-833, 1979 | 119 | 1979 |
| The genotypic and phenotypic spectrum of pyridoxine‐dependent epilepsy due to mutations in ALDH7A1 G Scharer, C Brocker, V Vasiliou, G Creadon‐Swindell, RC Gallagher, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 100 | 2010 |
| Immunologic studies of arginase in tissues of normal human adult and arginase-deficient patients EB Spector, SCH Rice, SD Cederbaum Pediatric research 17 (12), 941-944, 1983 | 100 | 1983 |
| Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia MA Swanson, CR Coughlin Jr, GH Scharer, HJ Szerlong, KJ Bjoraker, ... Annals of neurology 78 (4), 606-618, 2015 | 88 | 2015 |
| Neurodevelopmental outcome and treatment efficacy of benzoate and dextromethorphan in siblings with attenuated nonketotic hyperglycinemia KJ Bjoraker, MA Swanson, CR Coughlin II, J Christodoulou, ES Tan, ... The Journal of pediatrics 170, 234-239, 2016 | 83 | 2016 |
| The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT CR Coughlin, MA Swanson, K Kronquist, C Acquaviva, T Hutchin, ... Genetics in Medicine 19 (1), 104-111, 2017 | 82 | 2017 |
| Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I … MW Friederich, AJ Erdogan, CR Coughlin, MT Elos, H Jiang, ... Human molecular genetics 26 (4), 702-716, 2017 | 81 | 2017 |
| Characterization of a continuous human glioma cell line DBTRG-05MG: growth kinetics, karyotype, receptor expression, and tumor suppressor gene analyses CA Kruse, DH Mitchell, BK Kleinschmidt-DeMasters, WA Franklin, ... In Vitro Cellular & Developmental Biology-Animal 28, 609-614, 1992 | 81 | 1992 |
| Familial acanthosis nigricans due to K650T FGFR3 mutation DR Berk, EB Spector, SJ Bayliss Archives of dermatology 143 (9), 1153-1156, 2007 | 78 | 2007 |
| Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines KE Kronquist, SL Sherman, EB Spector Genetics in Medicine 10 (11), 845-847, 2008 | 75 | 2008 |
| Differential expression of the two human arginase genes in hyperargininemia. Enzymatic, pathologic, and molecular analysis. WW Grody, C Argyle, RM Kern, GJ Dizikes, EB Spector, AD Strickland, ... The Journal of clinical investigation 83 (2), 602-609, 1989 | 75 | 1989 |
| The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy CR Coughlin, MA Swanson, E Spector, NJL Meeks, KE Kronquist, ... Journal of inherited metabolic disease 42 (2), 353-361, 2019 | 74 | 2019 |
| Biochemical properties of arginase in human adult and fetal tissues EB Spector, SCH Rice, S Moedjono, B Bernard, SD Cederbaum Biochemical medicine 28 (2), 165-175, 1982 | 73 | 1982 |
