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

Access to Document

10.1038/gim.2016.14

GIM-D-15-00205_RW_TA
Author's final peer-reviewed manuscript as accepted for publication
Accepted author manuscript, 2.84 MB

Tim Aitman
- School of Genetics and Cancer - UoE Honorary Staff
Person: Affiliated Independent Researcher

Cite this

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 = "Elsevier",

}

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

Access to Document

Profiles

Tim Aitman

Cite this