| Many genes—one disease? Genetics of Nephronophthisis (NPHP) and NPHP-associated disorders S Srivastava, E Molinari, S Raman, JA Sayer Frontiers in pediatrics 5, 287, 2018 | 124 | 2018 |
| ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition S Alkanderi, E Molinari, R Shaheen, Y Elmaghloob, LA Stephen, ... The American Journal of Human Genetics 103 (4), 612-620, 2018 | 76 | 2018 |
| A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies S Srivastava, SA Ramsbottom, E Molinari, S Alkanderi, A Filby, K White, ... Human molecular genetics 26 (23), 4657-4667, 2017 | 61 | 2017 |
| Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model SA Ramsbottom, E Molinari, S Srivastava, F Silberman, C Henry, ... Proceedings of the National Academy of Sciences 115 (49), 12489-12494, 2018 | 50 | 2018 |
| A CEP104-CSPP1 complex is required for formation of primary cilia competent in hedgehog signaling KAM Frikstad, E Molinari, M Thoresen, SA Ramsbottom, F Hughes, ... Cell reports 28 (7), 1907-1922. e6, 2019 | 41 | 2019 |
| Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants E Molinari, E Decker, H Mabillard, J Tellez, S Srivastava, S Raman, ... European Journal of Human Genetics 26 (12), 1791-1796, 2018 | 25 | 2018 |
| Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome SA Ramsbottom, PE Thelwall, KM Wood, GJ Clowry, LA Devlin, ... Proceedings of the National Academy of Sciences 117 (2), 1113-1118, 2020 | 22 | 2020 |
| Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts E Molinari, SA Ramsbottom, S Srivastava, P Booth, S Alkanderi, ... Scientific reports 9 (1), 10828, 2019 | 19 | 2019 |
| A discarded synonymous variant in NPHP3 explains nephronophthisis and congenital hepatic fibrosis in several families E Olinger, IA Alawi, MS Al Riyami, IA Salmi, E Molinari, EA Faqeih, ... Human mutation 42 (10), 1221-1228, 2021 | 17 | 2021 |
| Use of patient derived urine renal epithelial cells to confirm pathogenicity of PKHD1 alleles E Molinari, S Srivastava, RM Dewhurst, JA Sayer BMC nephrology 21, 1-13, 2020 | 17 | 2020 |
| Disease modeling to understand the pathomechanisms of human genetic kidney disorders E Molinari, JA Sayer Clinical Journal of the American Society of Nephrology 15 (6), 855-872, 2020 | 15 | 2020 |
| Genetic compensation for cilia defects in cep290 mutants by upregulation of cilia-associated small GTPases M Cardenas-Rodriguez, C Austin-Tse, JGM Bergboer, E Molinari, ... Journal of Cell Science 134 (14), jcs258568, 2021 | 14 | 2021 |
| FGF8, c-Abl and p300 participate in a pathway that controls stability and function of the ΔNp63α protein M Restelli, E Molinari, B Marinari, D Conte, N Gnesutta, A Costanzo, ... Human Molecular Genetics 24 (15), 4185-4197, 2015 | 13 | 2015 |
| Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype‐phenotype correlations, tissue specific transcripts and exploring mutation … M Barroso‐Gil, E Olinger, SA Ramsbottom, E Molinari, CG Miles, JA Sayer Molecular Genetics & Genomic Medicine 9 (12), e1603, 2021 | 12 | 2021 |
| Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman I Al Alawi, E Molinari, I Al Salmi, F Al Rahbi, A Al Mawali, JA Sayer BMC nephrology 21, 1-11, 2020 | 12 | 2020 |
| Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease E Molinari, JA Sayer Expert Opinion on Orphan Drugs 5 (10), 785-798, 2017 | 10 | 2017 |
| From disease modelling to personalised therapy in patients with CEP290 mutations E Molinari, S Srivastava, JA Sayer, SA Ramsbottom F1000Research 6, 2017 | 9 | 2017 |
| Embryonic and foetal expression patterns of the ciliopathy gene CEP164 LA Devlin, SA Ramsbottom, LM Overman, SN Lisgo, G Clowry, E Molinari, ... PLoS One 15 (1), e0221914, 2020 | 7 | 2020 |
| Cell preservation methods and its application to studying rare disease RM Dewhurst, E Molinari, JA Sayer Molecular and cellular probes 56, 101694, 2021 | 6 | 2021 |
| Using human urine-derived renal epithelial cells to model kidney disease in inherited ciliopathies E Molinari, JA Sayer Translational Science of Rare Diseases 4 (1-2), 87-95, 2019 | 6 | 2019 |
