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

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

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

Original language	English
Journal	Genetics in Medicine
DOIs	https://doi.org/10.1038/gim.2016.14
Publication status	Published - 24 Mar 2016

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10.1038/gim.2016.14

GIM-D-15-00205_RW_TA
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Tim Aitman
- Centre for Genomic and Experimental Medicine
- School of Genetics and Cancer - Chair of Molecular Pathology and Genetics
Person: Academic: Research Active

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Weerakkody, R., Vandrovcova, J., Kanonidou, C., Mueller, M., Gampawar, P., Ibrahim, Y., Norsworthy, P. J., Biggs, J., Abdullah, A., Ross, D., Black, H., Ferguson, D. J. P., Cheshire, N., 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. https://doi.org/10.1038/gim.2016.14

@article{2c0e2757645e46fc8341e853adad743f,

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

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

year = "2016",

month = mar,

day = "24",

doi = "10.1038/gim.2016.14",

language = "English",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

}

Weerakkody, R, Vandrovcova, J, Kanonidou, C, Mueller, M, Gampawar, P, Ibrahim, Y, Norsworthy, PJ, Biggs, J, Abdullah, A, Ross, D, Black, H, Ferguson, DJP, Cheshire, N, 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. https://doi.org/10.1038/gim.2016.14

TY - JOUR

T1 - Targeted next generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome

AU - Weerakkody, Ruwan

AU - Vandrovcova, Jana

AU - Kanonidou, Christina

AU - Mueller, Mike

AU - Gampawar, Piyush

AU - Ibrahim, Yousef

AU - Norsworthy, Penny J

AU - Biggs, Jennifer

AU - Abdullah, Abdulshakur

AU - Ross, David

AU - Black, Holly

AU - Ferguson, David J P

AU - Cheshire, Nicholas

AU - Kazkaz, Hanadi

AU - Grahame, Rodney

AU - Ghali, Neeti

AU - Vandersteen, Anthony

AU - Pope, F Michael

AU - Aitman, Timothy J.

PY - 2016/3/24

Y1 - 2016/3/24

U2 - 10.1038/gim.2016.14

DO - 10.1038/gim.2016.14

M3 - Article

SN - 1098-3600

JO - Genetics in Medicine

JF - Genetics in Medicine

ER -

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

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Tim Aitman

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