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Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR A Martínez Mir, E Paloma, R Allikmets, C Ayuso, T Río, M Dean, ... Nature Publishing Group, 1998 | 477 | 1998 |
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ... Nature genetics 41 (3), 359-364, 2009 | 474 | 2009 |
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CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion JM Lee, EM Ramos, JH Lee, T Gillis, JS Mysore, MR Hayden, SC Warby, ... Neurology 78 (10), 690-695, 2012 | 426 | 2012 |
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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma MC Gonzalez‐Gonzalez, M Garcia‐Hoyos, MJ Trujillo, ... Prenatal diagnosis 22 (10), 946-948, 2002 | 224 | 2002 |
Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of … A Kennan, A Aherne, A Palfi, M Humphries, A McKee, A Stitt, ... Human molecular genetics 11 (5), 547-558, 2002 | 213 | 2002 |
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Huntington disease–unaffected fetus diagnosed from maternal plasma using QF‐PCR MC Gonzalez‐Gonzalez, MJ Trujillo, M Rodriguez de Alba, ... Prenatal Diagnosis: Published in Affiliation With the International Society …, 2003 | 146 | 2003 |
A missense mutation in PRPF6 causes impairment of pre-mRNA splicing and autosomal-dominant retinitis pigmentosa G Tanackovic, A Ransijn, C Ayuso, S Harper, EL Berson, C Rivolta The American Journal of Human Genetics 88 (5), 643-649, 2011 | 142 | 2011 |
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