Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome

Ruwan A. Weerakkody; Jana Vandrovcova; Christina Kanonidou; Michael Mueller; Piyush Gampawar; Yousef Ibrahim; Penny Norsworthy; Jennifer Biggs; Abdulshakur Abdullah; David Ross; Holly A. Black; David Ferguson; Nicholas J. Cheshire; Hanadi Kazkaz; Rodney Grahame; Neeti Ghali; Anthony Vandersteen; F. Michael Pope; Timothy J. Aitman

doi:10.1038/gim.2016.14

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome

Ruwan A. Weerakkody, Jana Vandrovcova, Christina Kanonidou, Michael Mueller, Piyush Gampawar, Yousef Ibrahim, Penny Norsworthy, Jennifer Biggs, Abdulshakur Abdullah, David Ross, Holly A. Black, David Ferguson, Nicholas J. Cheshire, Hanadi Kazkaz, Rodney Grahame, Neeti Ghali, Anthony Vandersteen, F. Michael Pope, Timothy J. Aitman

Agricultural and Biological Sciences

Research output: Contribution to journal › Article › peer-review

39 Citations (Scopus)

Original language	English
Pages (from-to)	1119-1127
Number of pages	9
Journal	Genetics in Medicine
Volume	18
Issue number	11
DOIs	https://doi.org/10.1038/gim.2016.14
Publication status	Published - Nov 1 2016

ASJC Scopus Subject Areas

Genetics(clinical)

Keywords

Ehlers-Danlos syndrome
aortic disease
collagen
hereditary disorders of connective tissue
high-throughput DNA sequencing

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10.1038/gim.2016.14

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Weerakkody, R. A., Vandrovcova, J., Kanonidou, C., Mueller, M., Gampawar, P., Ibrahim, Y., Norsworthy, P., Biggs, J., Abdullah, A., Ross, D., Black, H. A., Ferguson, D., Cheshire, N. J., Kazkaz, H., Grahame, R., Ghali, N., Vandersteen, A., Pope, F. M., & Aitman, T. J. (2016). Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome. Genetics in Medicine, 18(11), 1119-1127. https://doi.org/10.1038/gim.2016.14

Weerakkody, RA, Vandrovcova, J, Kanonidou, C, Mueller, M, Gampawar, P, Ibrahim, Y, Norsworthy, P, Biggs, J, Abdullah, A, Ross, D, Black, HA, Ferguson, D, Cheshire, NJ, Kazkaz, H, Grahame, R, Ghali, N, Vandersteen, A, Pope, FM & Aitman, TJ 2016, 'Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome', Genetics in Medicine, vol. 18, no. 11, pp. 1119-1127. https://doi.org/10.1038/gim.2016.14

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keywords = "Ehlers-Danlos syndrome, aortic disease, collagen, hereditary disorders of connective tissue, high-throughput DNA sequencing",

author = "Weerakkody, {Ruwan A.} and Jana Vandrovcova and Christina Kanonidou and Michael Mueller and Piyush Gampawar and Yousef Ibrahim and Penny Norsworthy and Jennifer Biggs and Abdulshakur Abdullah and David Ross and Black, {Holly A.} and David Ferguson and Cheshire, {Nicholas J.} and Hanadi Kazkaz and Rodney Grahame and Neeti Ghali and Anthony Vandersteen and Pope, {F. Michael} and Aitman, {Timothy J.}",

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AU - Weerakkody, Ruwan A.

AU - Vandrovcova, Jana

AU - Kanonidou, Christina

AU - Mueller, Michael

AU - Gampawar, Piyush

AU - Ibrahim, Yousef

AU - Norsworthy, Penny

AU - Biggs, Jennifer

AU - Abdullah, Abdulshakur

AU - Ross, David

AU - Black, Holly A.

AU - Ferguson, David

AU - Cheshire, Nicholas J.

AU - Kazkaz, Hanadi

AU - Grahame, Rodney

AU - Ghali, Neeti

AU - Vandersteen, Anthony

AU - Pope, F. Michael

AU - Aitman, Timothy J.

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KW - Ehlers-Danlos syndrome

KW - aortic disease

KW - collagen

KW - hereditary disorders of connective tissue

KW - high-throughput DNA sequencing

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome

ASJC Scopus Subject Areas

Keywords

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