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Journal Article
Gui H, Schriemer D, Cheng WW, et al. Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes. Genome biology. 2017;18:48. doi:10.1186/s13059-017-1174-6.
Lucariello M, Vidal E, Vidal S, et al. Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype. Hum Genet. 2016;135(12):1343-1354. doi:10.1007/s00439-016-1721-3.
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole Exome Sequencing Reveals ZNF408 as a New Gene Associated With Autosomal Recessive Retinitis Pigmentosa with Vitreal Alterations. Human molecular genetics. 2015;24:4037-4048. doi:10.1093/hmg/ddv140.
Méndez-Vidal C, del Pozo MGonzález-, Vela-Boza A, et al. Whole-exome sequencing identifies novel compound heterozygous mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa. Molecular vision. 2013;19:2187-95. Available at: http://www.molvis.org/molvis/v19/2187/.
Avila-Fernandez A, Perez-Carro R, Corton M, et al. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations. Hum Mol Genet. 2015;24(14):4037-48. doi:10.1093/hmg/ddv140.
Heyn H, Vidal E, Sayols S, et al. Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient. Epigenetics. 2012;7(6):542-50. doi:10.4161/epi.20523.