Imperial College London
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DrCarolynMillar

Faculty of Medicine, Department of Immunology and Inflammation

Honorary Clinical Senior Lecturer
 
 
 
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Contact

 

+44 (0)20 3313 2153c.millar

 
 
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Location

 

Commonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Bury:2020:10.1002/humu.23927,
author = {Bury, L and Megy, K and Stephens, JC and Grassi, L and Greene, D and Gleadall, N and Althaus, K and Allsup, D and Bariana, TK and Bonduel, M and Butta, N and Collins, P and Curry, N and Deevi, SVV and Downes, K and Duarte, D and Elliott, K and Falcinelli, E and Furie, B and Keeling, D and Lambert, MP and Linger, R and Mangles, S and Mapeta, R and Millar, CM and Penkett, C and Perry, DJ and Stirrups, KE and Turro, E and Westbury, SK and Wu, J and Gomez, K and Freson, K and Ouwehand, WH and Gresele, P and Simeoni, I},
doi = {10.1002/humu.23927},
journal = {HUMAN MUTATION},
pages = {277--290},
title = {Next-generation sequencing for the diagnosis of <i>MYH9</i>-RD: Predicting pathogenic variants},
url = {http://dx.doi.org/10.1002/humu.23927},
volume = {41},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AU  - Bury,L
AU  - Megy,K
AU  - Stephens,JC
AU  - Grassi,L
AU  - Greene,D
AU  - Gleadall,N
AU  - Althaus,K
AU  - Allsup,D
AU  - Bariana,TK
AU  - Bonduel,M
AU  - Butta,N
AU  - Collins,P
AU  - Curry,N
AU  - Deevi,SVV
AU  - Downes,K
AU  - Duarte,D
AU  - Elliott,K
AU  - Falcinelli,E
AU  - Furie,B
AU  - Keeling,D
AU  - Lambert,MP
AU  - Linger,R
AU  - Mangles,S
AU  - Mapeta,R
AU  - Millar,CM
AU  - Penkett,C
AU  - Perry,DJ
AU  - Stirrups,KE
AU  - Turro,E
AU  - Westbury,SK
AU  - Wu,J
AU  - Gomez,K
AU  - Freson,K
AU  - Ouwehand,WH
AU  - Gresele,P
AU  - Simeoni,I
DO  - 10.1002/humu.23927
EP  - 290
PY  - 2020///
SN  - 1059-7794
SP  - 277
TI  - Next-generation sequencing for the diagnosis of <i>MYH9</i>-RD: Predicting pathogenic variants
T2  - HUMAN MUTATION
UR  - http://dx.doi.org/10.1002/humu.23927
UR  - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000492206600001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=a2bf6146997ec60c407a63945d4e92bb
VL  - 41
ER  -
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