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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Otto EA, et al. Among authors: cavalcoli jd. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835237 Free PMC article.
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder.
Bedoyan JK, Schaibley VM, Peng W, Bai Y, Mondal K, Shetty AC, Durham M, Micucci JA, Dhiraaj A, Skidmore JM, Kaplan JB, Skinner C, Schwartz CE, Antonellis A, Zwick ME, Cavalcoli JD, Li JZ, Martin DM. Bedoyan JK, et al. Among authors: cavalcoli jd. J Med Genet. 2012 May;49(5):332-40. doi: 10.1136/jmedgenet-2011-100575. J Med Genet. 2012. PMID: 22581972 Free PMC article.
ConceptGen: a gene set enrichment and gene set relation mapping tool.
Sartor MA, Mahavisno V, Keshamouni VG, Cavalcoli J, Wright Z, Karnovsky A, Kuick R, Jagadish HV, Mirel B, Weymouth T, Athey B, Omenn GS. Sartor MA, et al. Bioinformatics. 2010 Feb 15;26(4):456-63. doi: 10.1093/bioinformatics/btp683. Epub 2009 Dec 9. Bioinformatics. 2010. PMID: 20007254 Free PMC article.
Positional cloning of the combined hyperlipidemia gene Hyplip1.
Bodnar JS, Chatterjee A, Castellani LW, Ross DA, Ohmen J, Cavalcoli J, Wu C, Dains KM, Catanese J, Chu M, Sheth SS, Charugundla K, Demant P, West DB, de Jong P, Lusis AJ. Bodnar JS, et al. Nat Genet. 2002 Jan;30(1):110-6. doi: 10.1038/ng811. Epub 2001 Dec 20. Nat Genet. 2002. PMID: 11753387 Free PMC article.
36 results