Affiliation: Texas Medical Center
Daiger S, Bowne S, Sullivan L, Branham K, Wheaton D, Jones K, et al
. Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol. 2018;1074:237-245 pubmed publisher
..Informed genetic diagnosis requires close collaboration between clinicians, genetic counselors, and laboratory scientists. ..
Koboldt D, Larson D, Sullivan L, Bowne S, Steinberg K, Churchill J, et al
. Exome-based mapping and variant prioritization for inherited Mendelian disorders. Am J Hum Genet. 2014;94:373-84 pubmed publisher
..To empower the search for Mendelian-disease genes in family-based sequencing studies, we implemented them in a cross-platform-compatible software package, MendelScan, which is freely available to the research community. ..
Fahim A, Daiger S. The Role of X-Chromosome Inactivation in Retinal Development and Disease. Adv Exp Med Biol. 2016;854:325-31 pubmed publisher
..Future investigations in determining retinal XCI ratios and the contribution of XCI to phenotype could potentially impact prognosis for female carriers of X-linked retinal disease. ..
Daiger S. Genetics. Was the Human Genome Project worth the effort?. Science. 2005;308:362-4 pubmed
Daiger S, Sullivan L, Bowne S, Birch D, Heckenlively J, Pierce E, et al
. Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa. Adv Exp Med Biol. 2010;664:325-31 pubmed publisher
..After validation studies, the first DNA's tested will be from 89 unrelated adRP families in which the prevalent RP genes have been excluded. This approach should identify new RP genes and will substantially reduce the cost per patient. ..
Chen Y, Zhao L, Wang Y, Cao M, Gelowani V, Xu M, et al
. SeqCNV: a novel method for identification of copy number variations in targeted next-generation sequencing data. BMC Bioinformatics. 2017;18:147 pubmed publisher
..SeqCNV is able to robustly identify CNVs of different size using capture NGS data. Compared with other CNV-calling methods, SeqCNV shows a significant improvement in both sensitivity and specificity. ..
Daiger S, Sullivan L, Gire A, Birch D, Heckenlively J, Bowne S. Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Adv Exp Med Biol. 2008;613:203-9 pubmed publisher
Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
Daiger S, Sullivan L, Bowne S, Koboldt D, Blanton S, Wheaton D, et al
. Identification of a Novel Gene on 10q22.1 Causing Autosomal Dominant Retinitis Pigmentosa (adRP). Adv Exp Med Biol. 2016;854:193-200 pubmed publisher
..Hexokinase catalyzes phosphorylation of glucose to glusose-6-phospate, the first step in glycolysis. The Glu847Lys mutation is in a highly-conserved site, outside of the active site or known functional sites. ..