| Identification of preexisting adaptive immunity to Cas9 proteins in humans CT Charlesworth, PS Deshpande, DP Dever, J Camarena, VT Lemgart, ... Nature medicine 25 (2), 249-254, 2019 | 932 | 2019 |
| A high-fidelity Cas9 mutant delivered as a ribonucleoprotein complex enables efficient gene editing in human hematopoietic stem and progenitor cells CA Vakulskas, DP Dever, GR Rettig, R Turk, AM Jacobi, MA Collingwood, ... Nature medicine 24 (8), 1216-1224, 2018 | 732 | 2018 |
| The C terminus of the L-type voltage-gated calcium channel CaV1. 2 encodes a transcription factor N Gomez-Ospina, F Tsuruta, O Barreto-Chang, L Hu, R Dolmetsch Cell 127 (3), 591-606, 2006 | 456 | 2006 |
| Mutations in the nuclear bile acid receptor FXR cause progressive familial intrahepatic cholestasis N Gomez-Ospina, CJ Potter, R Xiao, K Manickam, MS Kim, KH Kim, ... Nature communications 7 (1), 10713, 2016 | 294 | 2016 |
| Selective trafficking of non-cell-autonomous proteins mediated by NtNCAPP1 JY Lee, BC Yoo, MR Rojas, N Gomez-Ospina, LA Staehelin, WJ Lucas Science 299 (5605), 392-396, 2003 | 192 | 2003 |
| Gene editing on center stage RO Bak, N Gomez-Ospina, MH Porteus Trends in Genetics 34 (8), 600-611, 2018 | 170 | 2018 |
| Tomographic Evidence for Continuous Turnover of Golgi Cisternae in Pichia pastoris S Mogelsvang, N Gomez-Ospina, J Soderholm, BS Glick, LA Staehelin Molecular biology of the cell 14 (6), 2277-2291, 2003 | 153 | 2003 |
| De novo mutations in CHD4, an ATP-dependent chromatin remodeler gene, cause an intellectual disability syndrome with distinctive dysmorphisms K Weiss, PA Terhal, L Cohen, M Bruccoleri, M Irving, AF Martinez, ... The American Journal of Human Genetics 99 (4), 934-941, 2016 | 141 | 2016 |
| DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies J Ji, H Lee, B Argiropoulos, N Dorrani, J Mann, JA Martinez-Agosto, ... European Journal of Human Genetics 23 (11), 1473-1481, 2015 | 129 | 2015 |
| Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly D Alcantara, AE Timms, K Gripp, L Baker, K Park, S Collins, C Cheng, ... Brain 140 (10), 2610-2622, 2017 | 117 | 2017 |
| Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I N Gomez-Ospina, SG Scharenberg, N Mostrel, RO Bak, S Mantri, ... Nature communications 10 (1), 4045, 2019 | 106 | 2019 |
| The spindle checkpoint of Saccharomyces cerevisiae responds to separable microtubule-dependent events JR Daum, N Gomez-Ospina, M Winey, DJ Burke Current Biology 10 (21), 1375-1378, 2000 | 59 | 2000 |
| Arylsulfatase A deficiency N Gomez-Ospina GeneReviews®[Internet], 2024 | 53 | 2024 |
| Bi-allelic ADPRHL2 mutations cause neurodegeneration with developmental delay, ataxia, and axonal neuropathy K Danhauser, B Alhaddad, C Makowski, D Piekutowska-Abramczuk, ... The American Journal of Human Genetics 103 (5), 817-825, 2018 | 47 | 2018 |
| A promoter in the coding region of the calcium channel gene CACNA1C generates the transcription factor CCAT N Gomez-Ospina, G Panagiotakos, T Portmann, SP Pasca, D Rabah, ... PloS one 8 (4), e60526, 2013 | 45 | 2013 |
| Molecular and clinical spectra of FBXL4 deficiency AW El‐Hattab, H Dai, M Almannai, J Wang, EA Faqeih, A Al Asmari, ... Human mutation 38 (12), 1649-1659, 2017 | 44 | 2017 |
| Engineering monocyte/macrophage− specific glucocerebrosidase expression in human hematopoietic stem cells using genome editing SG Scharenberg, E Poletto, KL Lucot, P Colella, A Sheikali, TJ Montine, ... Nature Communications 11 (1), 3327, 2020 | 41 | 2020 |
| Genome editing for mucopolysaccharidoses E Poletto, G Baldo, N Gomez-Ospina International journal of molecular sciences 21 (2), 500, 2020 | 36 | 2020 |
| Clinical, cytogenetic, and molecular outcomes in a series of 66 patients with Pierre Robin sequence and literature review: 22q11. 2 deletion is less common than other … N Gomez‐Ospina, JA Bernstein American Journal of Medical Genetics Part A 170 (4), 870-880, 2016 | 35 | 2016 |
| Yeast nuclear pore complex assembly defects determined by nuclear envelope reconstruction N Gomez-Ospina, G Morgan, TH Giddings Jr, B Kosova, E Hurt, M Winey Journal of structural biology 132 (1), 1-5, 2000 | 35 | 2000 |
Matthew PorteusProfessor of Pediatrics, Stanford UniversityVerified email at stanford.edu
