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Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ... Nature genetics 41 (7), 829-832, 2009 | 794 | 2009 |
Treatment of Fabry’s disease with the pharmacologic chaperone migalastat DP Germain, DA Hughes, K Nicholls, DG Bichet, R Giugliani, WR Wilcox, ... New england journal of medicine 375 (6), 545-555, 2016 | 602 | 2016 |
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, GMA Forte, BH Anderson, ... Nature genetics 46 (5), 503-509, 2014 | 595 | 2014 |
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1 YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ... American journal of medical genetics Part A 167 (2), 296-312, 2015 | 579 | 2015 |
Clinical and molecular phenotype of Aicardi-Goutieres syndrome G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ... The American Journal of Human Genetics 81 (4), 713-725, 2007 | 476 | 2007 |
Multi-system neurological disease is common in patients with OPA1 mutations P Yu-Wai-Man, PG Griffiths, GS Gorman, CM Lourenco, AF Wright, ... Brain 133 (3), 771-786, 2010 | 449 | 2010 |
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study DA Hughes, K Nicholls, SP Shankar, G Sunder-Plassmann, D Koeller, ... Journal of medical genetics 54 (4), 288-296, 2017 | 442 | 2017 |
Assessment of interferon-related biomarkers in Aicardi-Goutieres syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ... The lancet neurology 12 (12), 1159-1169, 2013 | 435 | 2013 |
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ... American journal of preventive medicine 20 (2), 16-66, 2001 | 335 | 2001 |
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 | 293 | 2012 |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity R Bachmann-Gagescu, JC Dempsey, IG Phelps, BJ O'roak, DM Knutzen, ... Journal of medical genetics 52 (8), 514-522, 2015 | 271 | 2015 |
Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment R Giugliani, A Federhen, MV Muñoz Rojas, T Vieira, O Artigalás, ... Genetics and molecular biology 33, 589-604, 2010 | 268 | 2010 |
Measurement of prompt and nonprompt production in and collisions at AM Sirunyan, A Tumasyan, W Adam, E Asilar, T Bergauer, J Brandstetter, ... The European Physical Journal C 77, 1-27, 2017 | 235 | 2017 |
Acute heart failure congestion and perfusion status–impact of the clinical classification on in‐hospital and long‐term outcomes; insights from the ESC‐EORP‐HFA Heart Failure … O Chioncel, A Mebazaa, AP Maggioni, VP Harjola, G Rosano, C Laroche, ... European journal of heart failure 21 (11), 1338-1352, 2019 | 233 | 2019 |
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ... Brain 137 (1), 69-77, 2014 | 226 | 2014 |
Niemann-Pick disease type C symptomatology: an expert-based clinical description E Mengel, HH Klünemann, CM Lourenço, CJ Hendriksz, F Sedel, ... Orphanet journal of rare diseases 8, 1-11, 2013 | 205 | 2013 |
Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans V Bayat, I Thiffault, M Jaiswal, M Tétreault, T Donti, F Sasarman, ... PLoS biology 10 (3), e1001288, 2012 | 200 | 2012 |
Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia A Boukhris, R Schule, JL Loureiro, CM Lourenço, E Mundwiller, ... The American Journal of Human Genetics 93 (1), 118-123, 2013 | 183 | 2013 |
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update MC Patterson, P Clayton, P Gissen, M Anheim, P Bauer, O Bonnot, ... Neurology: Clinical Practice 7 (6), 499-511, 2017 | 177 | 2017 |