| A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum C Simons, NI Wolf, N McNeil, L Caldovic, JM Devaney, A Takanohashi, ... The American Journal of Human Genetics 92 (5), 767-773, 2013 | 210 | 2013 |
| N-acetylglutamate and its changing role through evolution L Caldovic, M Tuchman Biochemical Journal 372 (2), 279-290, 2003 | 181 | 2003 |
| Genotype–phenotype correlations in ornithine transcarbamylase deficiency: a mutation update L Caldovic, I Abdikarim, S Narain, M Tuchman, H Morizono Journal of Genetics and Genomics 42 (5), 181-194, 2015 | 153 | 2015 |
| Whole exome sequencing in patients with white matter abnormalities A Vanderver, C Simons, G Helman, J Crawford, NI Wolf, G Bernard, ... Annals of neurology 79 (6), 1031-1037, 2016 | 149 | 2016 |
| N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers M Tuchman, L Caldovic, Y Daikhin, O Horyn, I Nissim, I Nissim, M Korson, ... Pediatric research 64 (2), 213-217, 2008 | 110 | 2008 |
| Ornithine transcarbamylase deficiency U Lichter-Konecki, L Caldovic, H Morizono, K Simpson, A Mew, ... | 108 | 2022 |
| Cloning and expression of the human N-acetylglutamate synthase gene L Caldovic, H Morizono, MG Panglao, R Gallegos, X Yu, D Shi, ... Biochemical and biophysical research communications 299 (4), 581-586, 2002 | 99 | 2002 |
| The urine microbiome of healthy men and women differs by urine collection method HG Pohl, SL Groah, M Pérez-Losada, I Ljungberg, BM Sprague, ... International Neurourology Journal 24 (1), 41, 2020 | 91 | 2020 |
| N-acetylglutamate synthase: structure, function and defects L Caldovic, NA Mew, D Shi, H Morizono, M Yudkoff, M Tuchman Molecular genetics and metabolism 100, S13-S19, 2010 | 81 | 2010 |
| Mammalian N-acetylglutamate synthase H Morizono, L Caldovic, D Shi, M Tuchman Molecular genetics and metabolism 81, 4-11, 2004 | 74 | 2004 |
| Redefining healthy urine: a cross-sectional exploratory metagenomic study of people with and without bladder dysfunction SL Groah, M Pérez-Losada, L Caldovic, IH Ljungberg, BM Sprague, ... The Journal of urology 196 (2), 579-587, 2016 | 73 | 2016 |
| Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia L Caldovic, H Morizono, MG Panglao, SF Cheng, S Packman, M Tuchman Human genetics 112, 364-368, 2003 | 69 | 2003 |
| Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate L Caldovic, H Morizono, Y Daikhin, I Nissim, RJ McCarter, M Yudkoff, ... The Journal of pediatrics 145 (4), 552-554, 2004 | 66 | 2004 |
| Development of position-independent expression vectors and their transfer into transgenic fish L Caldovic, PB Hackett Mol Mar Biol Biotechnol 4 (1), 51-61, 1995 | 64 | 1995 |
| Identification, cloning and expression of the mouse N-acetylglutamate synthase gene L Caldovic, H Morizono, X Yu, M Thompson, D Shi, R Gallegos, ... Biochemical Journal 364 (3), 825-831, 2002 | 60 | 2002 |
| Crystal structure of N-acetylornithine transcarbamylase from Xanthomonas campestris: a novel enzyme in a new arginine biosynthetic pathway found in several eubacteria D Shi, H Morizono, X Yu, L Roth, L Caldovic, NM Allewell, MH Malamy, ... Journal of Biological Chemistry 280 (15), 14366-14369, 2005 | 55 | 2005 |
| Late onset N‐acetylglutamate synthase deficiency caused by hypomorphic alleles L Caldovic, H Morizono, MG Panglao, GY Lopez, D Shi, ML Summar, ... Human mutation 25 (3), 293-298, 2005 | 51 | 2005 |
| Mutations and polymorphisms in the human N‐acetylglutamate synthase (NAGS) gene L Caldovic, H Morizono, M Tuchman Human mutation 28 (8), 754-759, 2007 | 48 | 2007 |
| Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene YJ Jang, AL LaBella, TP Feeney, N Braverman, M Tuchman, H Morizono, ... Human mutation 39 (4), 527-536, 2018 | 47 | 2018 |
| Regulation of expression of transgenes in developing fish B Moav, Z Liu, LD Caldovic, ML Gross, AJ Faras, PB Hackett Transgenic research 2, 153-161, 1993 | 46 | 1993 |
