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disease-causing genes identified by exome sequencing

Monday 6 February 2012

Disease-causing genes identified by exome sequencing

- CHST8 in autosomal recessive peeling skin syndrome (#22289416#)
- KIF11 in Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy (#22284827#)

References

- Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome. Cabral RM, Kurban M, Wajid M, Shimomura Y, Petukhova L, Christiano AM. Genomics. 2012 Jan 25. PMID: #22289416#

- Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy. Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S. Am J Hum Genet. 2012 Jan 24. PMID: #22284827#

- Exome sequencing of a multigenerational human pedigree. Hedges DJ, Burges D, Powell E, Almonte C, Huang J, Young S, Boese B, Schmidt M, Pericak-Vance MA, Martin E, Zhang X, Harkins TT, Z├╝chner S. PLoS One. 2009 Dec 14;4(12):e8232. PMID: #20011588#

- Exome sequencing identifies the cause of a mendelian disorder. Ng SB, Buckingham KJ, Lee C, Bigham AW, Tabor HK, Dent KM, Huff CD, Shannon PT, Jabs EW, Nickerson DA, Shendure J, Bamshad MJ. Nat Genet. 2010 Jan;42(1):30-5. PMID: #19915526#