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Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
Castleman VH, Romio L, Chodhari R, Hirst RA, de Castro SC, Parker KA, Ybot-Gonzalez P, Emes RD, Wilson SW, Wallis C, Johnson CA, Herrera RJ, Rutman A, Dixon M, Shoemark A, Bush A, Hogg C, Gardiner RM, Reish O, Greene ND, O'Callaghan C, Purton S, Chung EM, Mitchison HM. Castleman VH, et al. Among authors: reish o, o callaghan c. Am J Hum Genet. 2009 Feb;84(2):197-209. doi: 10.1016/j.ajhg.2009.01.011. Epub 2009 Feb 5. Am J Hum Genet. 2009. PMID: 19200523 Free PMC article.
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG. Saada A, et al. Among authors: reish o. Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21. Am J Hum Genet. 2009. PMID: 19463981 Free PMC article.
Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Boissel S, Reish O, Proulx K, Kawagoe-Takaki H, Sedgwick B, Yeo GS, Meyre D, Golzio C, Molinari F, Kadhom N, Etchevers HC, Saudek V, Farooqi IS, Froguel P, Lindahl T, O'Rahilly S, Munnich A, Colleaux L. Boissel S, et al. Among authors: reish o, o rahilly s. Am J Hum Genet. 2009 Jul;85(1):106-11. doi: 10.1016/j.ajhg.2009.06.002. Epub 2009 Jun 25. Am J Hum Genet. 2009. PMID: 19559399 Free PMC article.
Congenital myopathy is caused by mutation of HACD1.
Muhammad E, Reish O, Ohno Y, Scheetz T, Deluca A, Searby C, Regev M, Benyamini L, Fellig Y, Kihara A, Sheffield VC, Parvari R. Muhammad E, et al. Among authors: reish o. Hum Mol Genet. 2013 Dec 20;22(25):5229-36. doi: 10.1093/hmg/ddt380. Epub 2013 Aug 9. Hum Mol Genet. 2013. PMID: 23933735 Free PMC article.
Angelman syndrome at an older age.
Reish O, King RA. Reish O, et al. Am J Med Genet. 1995 Jul 3;57(3):510-1. doi: 10.1002/ajmg.1320570336. Am J Med Genet. 1995. PMID: 7677166 No abstract available.
83 results