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Your search keyword '"Minoche A"' showing total 7 results
Start Over Author "Minoche A" Journal genetics in medicine
7 results on '"Minoche A"'

1. Revealing hidden genetic diagnoses in the ocular anterior segment disorders

Author

Ma, Alan, Yousoof, Saira, Grigg, John R., Flaherty, Maree, Minoche, Andre E., Cowley, Mark J., Nash, Benjamin M., Ho, Gladys, Gayagay, Thet, Lai, Tiffany, Farnsworth, Elizabeth, Hackett, Emma L., Fisk, Katrina, Wong, Karen, Holman, Katherine J., Jenkins, Gemma, Cheng, Anson, Martin, Frank, Karaconji, Tanya, Elder, James E., Enriquez, Annabelle, Wilson, Meredith, Amor, David J., Stutterd, Chloe A., Kamien, Benjamin, Nelson, John, Dinger, Marcel E., Bennetts, Bruce, and Jamieson, Robyn V.

Published
2020
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2. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Author

Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Minoche, Andre E., Puttick, Clare, Thorburn, David R., Rius, Rocio, Compton, Alison G., Menezes, Minal J., Bhattacharya, Kaustuv, Coman, David, Ellaway, Carolyn, Alexander, Ian E., Adams, Louisa, Kava, Maina, Robinson, Jacqui, Sue, Carolyn M., Balasubramaniam, Shanti, and Christodoulou, John

Published
2020
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4. The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease

Author

David Coman, Minal Menezes, Louisa Adams, Shanti Balasubramaniam, Carolyn M. Sue, Carolyn Ellaway, Lisa G. Riley, Mark J. Cowley, David R. Thorburn, Clare Puttick, Rocio Rius, André E. Minoche, Maina P. Kava, Velimir Gayevskiy, Ian E. Alexander, Jacqui Robinson, Kaustuv Bhattacharya, John Christodoulou, and Alison G. Compton

Subjects
Genetics, Mitochondrial DNA, Genetic heterogeneity, business.industry, Mitochondrial disease, Respiratory chain, medicine.disease, Genome, DNA sequencing, medicine, Indel, business, Gene, Genetics (clinical)
Abstract

Purpose: The utility of genome sequencing (GS) in the diagnosis of suspected pediatric mitochondrial disease (MD) was investigated. Methods: An Australian cohort of 40 pediatric patients with clinical features suggestive of MD were classified using the modified Nijmegen mitochondrial disease severity scoring into definite (17), probable (17), and possible (6) MD groups. Trio GS was performed using DNA extracted from patient and parent blood. Data were analyzed for single-nucleotide variants, indels, mitochondrial DNA variants, and structural variants. Results: A definitive MD gene molecular diagnosis was made in 15 cases and a likely MD molecular diagnosis in a further five cases. Causative mitochondrial DNA (mtDNA) variants were identified in four of these cases. Three potential novel MD genes were identified. In seven cases, causative variants were identified in known disease genes with no previous evidence of causing a primary MD. Diagnostic rates were higher in patients classified as having definite MD. Conclusion: GS efficiently identifies variants in MD genes of both nuclear and mitochondrial origin. A likely molecular diagnosis was identified in 67% of cases and a definitive molecular diagnosis achieved in 55% of cases. This study highlights the value of GS for a phenotypically and genetically heterogeneous disorder like MD.

Published
2020
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5. Response to Brodehl et al

Author

Richard D. Bagnall, Claire Horvat, Christine E. Seidman, Marcel E. Dinger, Kerhan Woo, Alexander P. Drew, Ben Lundie, Sarah U. Morton, Renee Johnson, Christopher Semsarian, Jonathan G. Seidman, Mark J. Cowley, Jodie Ingles, Aaron L. Statham, André E. Minoche, Velimir Gayevskiy, and Diane Fatkin

Subjects
medicine.diagnostic_test, Cardiomyopathy, medicine, MEDLINE, Base sequence, Computational biology, Biology, medicine.disease, Genetics (clinical), Genetic testing
Published
2019
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6. Response to Brodehl et al.

Author

Minoche, Andre E., primary, Horvat, Claire, additional, Johnson, Renee, additional, Gayevskiy, Velimir, additional, Morton, Sarah U., additional, Drew, Alexander P., additional, Woo, Kerhan, additional, Statham, Aaron L., additional, Lundie, Ben, additional, Bagnall, Richard D., additional, Ingles, Jodie, additional, Semsarian, Christopher, additional, Seidman, J. G., additional, Seidman, Christine E., additional, Dinger, Marcel E., additional, Cowley, Mark J., additional, and Fatkin, Diane, additional

Published
2018
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7. Response to Brodehl et al.

Author

Minoche, Andre E., Horvat, Claire, Johnson, Renee, Gayevskiy, Velimir, Morton, Sarah U., Drew, Alexander P., Woo, Kerhan, Statham, Aaron L., Lundie, Ben, Bagnall, Richard D., Ingles, Jodie, Semsarian, Christopher, Seidman, J.G., Seidman, Christine E., Dinger, Marcel E., Cowley, Mark J., and Fatkin, Diane

Published
2019
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