Joan E Bailey-Wilson
Affiliation: National Institutes of Health
Musolf A, Simpson C, Alexander T, Portas L, Murgia F, Ciner E, et al
. Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33. Hum Genet. 2019;138:339-354 pubmed publisher
..3, which has been shown to affect photoreceptors and cause complete color blindness. Whole genome sequencing on these regions is planned to conclusively elucidate the causal variants. ..
Simpson C, Musolf A, Li Q, Portas L, Murgia F, Cordero R, et al
. Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families. BMC Med Genet. 2019;20:27 pubmed publisher
..Strong candidate genes have been identified within these linkage peaks in our families. Targeted sequencing in these regions will be necessary to definitively identify causal variants under these linkage peaks. ..
Bailey Wilson J, Brennan J, Bull S, Culverhouse R, Kim Y, Jiang Y, et al
. Regression and data mining methods for analyses of multiple rare variants in the Genetic Analysis Workshop 17 mini-exome data. Genet Epidemiol. 2011;35 Suppl 1:S92-100 pubmed publisher
Kember R, Georgi B, Bailey Wilson J, Stambolian D, Paul S, BuÄ‡an M. Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder. BMC Genet. 2015;16:27 pubmed publisher
..These results reinforce the hypothesis of a complex genetic architecture underlying BP disorder, and suggest that the role of CNVs should continue to be investigated in BP data sets. ..
Musolf A, Simpson C, de Andrade M, Mandal D, Gaba C, Yang P, et al
. Familial Lung Cancer: A Brief History from the Earliest Work to the Most Recent Studies. Genes (Basel). 2017;8: pubmed publisher
..Though not common, some germline mutations have also been identified via sequencing studies. Ongoing genomics studies aim to identify additional high penetrance germline susceptibility alleles for this deadly disease. ..
Bailey Wilson J, Almasy L, de Andrade M, Bailey J, Bickeböller H, Cordell H, et al
. Genetic Analysis Workshop 14: microsatellite and single-nucleotide polymorphism marker loci for genome-wide scans. BMC Genet. 2005;6 Suppl 1:S1 pubmed