| Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type I interferon signature GI Rice, PR Kasher, G Forte, NM Mannion, SM Greenwood, ... Nature genetics 44 (11), 1243-1248, 2012 | 870 | 2012 |
| Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling GI Rice, Y del Toro Duany, EM Jenkinson, G Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 602 | 2014 |
| Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ... Nature genetics 44 (3), 338-342, 2012 | 294 | 2012 |
| Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease EM Jenkinson, AU Rehman, T Walsh, J Clayton-Smith, K Lee, RJ Morell, ... The American Journal of Human Genetics 92 (4), 605-613, 2013 | 239 | 2013 |
| Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling I Melki, Y Rose, C Uggenti, L Van Eyck, ML Frémond, N Kitabayashi, ... Journal of Allergy and Clinical Immunology 140 (2), 543-552. e5, 2017 | 186 | 2017 |
| A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1 JH Livingston, JP Lin, RC Dale, D Gill, P Brogan, A Munnich, MA Kurian, ... Journal of medical genetics 51 (2), 76-82, 2014 | 139 | 2014 |
| Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts EM Jenkinson, MP Rodero, PR Kasher, C Uggenti, A Oojageer, ... Nature genetics 48 (10), 1185-1192, 2016 | 133 | 2016 |
| A POT1 mutation implicates defective telomere end fill-in and telomere truncations in Coats plus H Takai, E Jenkinson, S Kabir, R Babul-Hirji, N Najm-Tehrani, ... Genes & development 30 (7), 812-826, 2016 | 110 | 2016 |
| Expanding the genotypic spectrum of Perrault syndrome LAM Demain, JE Urquhart, J O'Sullivan, SG Williams, SS Bhaskar, ... Clinical genetics 91 (2), 302-312, 2017 | 87 | 2017 |
| Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification RR Lemos, EM Ramos, A Legati, G Nicolas, EM Jenkinson, JH Livingston, ... Human mutation 36 (5), 489-495, 2015 | 83 | 2015 |
| Leukoencephalopathy with calcifications and cysts: a purely neurological disorder distinct from coats plus JH Livingston, J Mayer, E Jenkinson, P Kasher, S Stivaros, A Berger, ... Neuropediatrics 45 (03), 175-182, 2014 | 47 | 2014 |
| Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutieres syndrome PR Kasher, EM Jenkinson, V Briolat, D Gent, C Morrissey, LAH Zeef, ... The Journal of Immunology 194 (6), 2819-2825, 2015 | 42 | 2015 |
| Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations I Hochberg, LAM Demain, J Richer, K Thompson, JE Urquhart, A Rea, ... The American Journal of Human Genetics 108 (11), 2195-2204, 2021 | 40* | 2021 |
| Perrault syndrome: further evidence for genetic heterogeneity EM Jenkinson, J Clayton-Smith, S Mehta, C Bennett, W Reardon, A Green, ... Journal of neurology 259 (5), 974-976, 2012 | 40 | 2012 |
| Genome sequencing in persistently unsolved white matter disorders G Helman, BR Lajoie, J Crawford, A Takanohashi, M Walkiewicz, ... Annals of clinical and translational neurology 7 (1), 144-152, 2020 | 33 | 2020 |
| Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome D Tonduti, S Orcesi, EM Jenkinson, I Dorboz, F Renaldo, C Panteghini, ... European Journal of Paediatric Neurology 20 (4), 604-610, 2016 | 30 | 2016 |
| Analysis of U8 snoRNA variants in zebrafish reveals how bi-allelic variants cause leukoencephalopathy with calcifications and cysts AP Badrock, C Uggenti, L Wacheul, S Crilly, EM Jenkinson, GI Rice, ... The American Journal of Human Genetics 106 (5), 694-706, 2020 | 22 | 2020 |
| Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum YJ Crow, H Marshall, GI Rice, L Seabra, EM Jenkinson, K Baranano, ... American Journal of Medical Genetics Part A 185 (1), 15-25, 2021 | 21 | 2021 |
| Comprehensive molecular screening strategy of OCLN in band‐like calcification with simplified gyration and polymicrogyria EM Jenkinson, JH Livingston, MC O'Driscoll, I Desguerre, R Nabbout, ... Clinical genetics 93 (2), 228-234, 2018 | 13 | 2018 |
| Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21. 3 EM Jenkinson, H Kingston, J Urquhart, N Khan, A Melville, M Swinton, ... American Journal of Medical Genetics Part A 155 (12), 2910-2915, 2011 | 4 | 2011 |
