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Full-Text Articles in Physical Sciences and Mathematics
Impact Of Myh6 Variants In Hypoplastic Left Heart Syndrome, Aoy Tomita-Mitchell, Karl D. Stamm, Donna K. Mahnke, Min-Su Kim, Pip M. Hidestrand, Huan-Ling Liang, Mary Goetsch, Pippa Simpson, Andrew N. Pelech, James S. Tweddell, D. Woodrow Benson, John Lough, Michael E. Mitchell
Impact Of Myh6 Variants In Hypoplastic Left Heart Syndrome, Aoy Tomita-Mitchell, Karl D. Stamm, Donna K. Mahnke, Min-Su Kim, Pip M. Hidestrand, Huan-Ling Liang, Mary Goetsch, Pippa Simpson, Andrew N. Pelech, James S. Tweddell, D. Woodrow Benson, John Lough, Michael E. Mitchell
Mathematics, Statistics and Computer Science Faculty Research and Publications
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene. A case-control study of 190 unrelated HLHS subjects was then performed and compared with the 1000 Genomes Project. Damaging …
Impact Of Myh6 Variants In Hypoplastic Left Heart Syndrome, Aoy Tomita-Mitchell, Karl D. Stamm, Donna K. Mahnke, Min-Su Kim, Pip M. Hidestrand, Huan-Ling Liang, Mary A. Goetsch, Mats Hidestrand, Pippa Simpson, Andrew N. Pelech, James S. Tweddell, D. Woodrow Benson, John Lough, Michael Mitchell
Impact Of Myh6 Variants In Hypoplastic Left Heart Syndrome, Aoy Tomita-Mitchell, Karl D. Stamm, Donna K. Mahnke, Min-Su Kim, Pip M. Hidestrand, Huan-Ling Liang, Mary A. Goetsch, Mats Hidestrand, Pippa Simpson, Andrew N. Pelech, James S. Tweddell, D. Woodrow Benson, John Lough, Michael Mitchell
Mathematics, Statistics and Computer Science Faculty Research and Publications
Hypoplastic left heart syndrome (HLHS) is a clinically and anatomically severe form of congenital heart disease (CHD). Although prior studies suggest that HLHS has a complex genetic inheritance, its etiology remains largely unknown. The goal of this study was to characterize a risk gene in HLHS and its effect on HLHS etiology and outcome. We performed next-generation sequencing on a multigenerational family with a high prevalence of CHD/HLHS, identifying a rare variant in the α-myosin heavy chain (MYH6) gene. A case-control study of 190 unrelated HLHS subjects was then performed and compared with the 1000 Genomes Project. Damaging …
Human Gene Copy Number Spectra Analysis In Congenital Heart Malformations, Aoy Tomita-Mitchell, Donna K. Mahnke, Craig Struble, Maureen E. Tuffnell, Karl D. Stamm, Mats Hidestrand, Susan Harris, Mary A. Goetsch, Pippa Simpson, David P. Bick, Ulrich Broeckel, Andrew N. Pelech, James S. Tweddell, Michael Mitchell
Human Gene Copy Number Spectra Analysis In Congenital Heart Malformations, Aoy Tomita-Mitchell, Donna K. Mahnke, Craig Struble, Maureen E. Tuffnell, Karl D. Stamm, Mats Hidestrand, Susan Harris, Mary A. Goetsch, Pippa Simpson, David P. Bick, Ulrich Broeckel, Andrew N. Pelech, James S. Tweddell, Michael Mitchell
Mathematics, Statistics and Computer Science Faculty Research and Publications
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical approach permitting CNV gene frequency “spectra” to be computed over prespecified regions to determine phenotype-gene dosage relationships was employed. CNVs in subjects with CHD (n = 945), subphenotyped into 40 …