| Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome N Braverman, P Lin, FF Moebius, C Obie, A Moser, H Glossmann, ... Nature genetics 22 (3), 291-294, 1999 | 301 | 1999 |
| Clinical and biochemical spectrum of patients with RSH/Smith‐Lemli‐Opitz syndrome and abnormal cholesterol metabolism C Cunniff, LE Kratz, A Moser, MR Natowicz, RI Kelley American journal of medical genetics 68 (3), 263-269, 1997 | 256 | 1997 |
| Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith–Lemli–Opitz syndrome CA Wassif, P Zhu, L Kratz, PA Krakowiak, KP Battaile, FF Weight, ... Human Molecular Genetics 10 (6), 555-564, 2001 | 188 | 2001 |
| Abnormalities of cholesterol metabolism in autism spectrum disorders E Tierney, I Bukelis, RE Thompson, K Ahmed, A Aneja, L Kratz, RI Kelley American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 141 …, 2006 | 185 | 2006 |
| Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency PA Krakowiak, CA Wassif, L Kratz, D Cozma, M Kovářová, G Harris, ... Human molecular genetics 12 (13), 1631-1641, 2003 | 174 | 2003 |
| Abnormal sterol metabolism in patients with Conradi‐Hünermann‐Happle syndrome and sporadic lethal chondrodysplasia punctata RI Kelley, WG Wilcox, M Smith, LE Kratz, A Moser, DS Rimoin American journal of medical genetics 83 (3), 213-219, 1999 | 151 | 1999 |
| Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay HC Andersson, L Kratz, R Kelley American journal of medical genetics 113 (4), 315-319, 2002 | 132 | 2002 |
| CHILD syndrome caused by deficiency of 3β‐hydroxysteroid‐Δ8, Δ7‐isomerase DK Grange, LE Kratz, NE Braverman, RI Kelley American journal of medical genetics 90 (4), 328-335, 2000 | 131 | 2000 |
| Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay M He, LE Kratz, JJ Michel, AN Vallejo, L Ferris, RI Kelley, JJ Hoover, ... The Journal of clinical investigation 121 (3), 976-984, 2011 | 109 | 2011 |
| Abnormal sterol metabolism in a patient with Antley‐Bixler syndrome and ambiguous genitalia RI Kelley, LE Kratz, RL Glaser, ML Netzloff, L Miller Wolf, EW Jabs American journal of medical genetics 110 (2), 95-102, 2002 | 107 | 2002 |
| Prenatal diagnosis of the RSH/Smith‐Lemli‐Opitz syndrome LE Kratz, RI Kelley American journal of medical genetics 82 (5), 376-381, 1999 | 103 | 1999 |
| Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli S I. Goodman, LE Kratz, KA DiGiulio, BJ Biery, KE Goodman, G Isaya, ... Human molecular genetics 4 (9), 1493-1498, 1995 | 92 | 1995 |
| Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype‐specific manner PJ Clark, AJ Thompson, DM Vock, LE Kratz, AA Tolun, AJ Muir, ... Hepatology 56 (1), 49-56, 2012 | 90 | 2012 |
| Endogenous sterol metabolites regulate growth of EGFR/KRAS-dependent tumors via LXR L Gabitova, D Restifo, A Gorin, K Manocha, E Handorf, DH Yang, KQ Cai, ... Cell reports 12 (11), 1927-1938, 2015 | 85 | 2015 |
| Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation A Sukhanova, A Gorin, IG Serebriiskii, L Gabitova, H Zheng, D Restifo, ... Cancer discovery 3 (1), 96-111, 2013 | 79 | 2013 |
| Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy LS Correa-Cerro, CA Wassif, L Kratz, GF Miller, JP Munasinghe, ... Human molecular genetics 15 (6), 839-851, 2006 | 78 | 2006 |
| Clinical observations, molecular genetic analysis, and treatment of sitosterolemia in infants and children DM Niu, KW Chong, JH Hsu, TJT Wu, HC Yu, CH Huang, MY Lo, ... Journal of inherited metabolic disease 33, 437-443, 2010 | 77 | 2010 |
| Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome KW McLarren, TM Severson, C du Souich, DW Stockton, LE Kratz, ... The American Journal of Human Genetics 87 (6), 905-914, 2010 | 74 | 2010 |
| Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature CP Schaaf, J Koster, P Katsonis, L Kratz, OA Shchelochkov, F Scaglia, ... American journal of medical genetics Part A 155 (7), 1597-1604, 2011 | 58 | 2011 |
| Clinical variability in Rett syndrome SB Naidu, G Bibat, L Kratz, RI Kelley, J Pevsner, E Hoffman, C Cuffari, ... Journal of child neurology 18 (10), 662-668, 2003 | 56 | 2003 |
