|
🐜
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The UK10K project identifies rare variants in health and disease
242 auth.
Klaudia Walter,
J. Min,
Jie Huang,
L. Crooks,
Y. Memari,
Shane A. McCarthy,
J. Perry,
Changjiang Xu,
M. Futema,
D. Lawson,
V. Iotchkova,
S. Schiffels,
A. Hendricks,
P. Danecek,
Rui Li,
...
J. Floyd,
L. Wain,
I. Barroso,
S. Humphries,
M. Hurles,
E. Zeggini,
J. Barrett,
V. Plagnol,
J. Brent Richards,
C. Greenwood,
N. Timpson,
R. Durbin,
N. Soranzo,
Sendu Bala,
P. Clapham,
Guy Coates,
Tony Cox,
A. Daly,
Yuanping Du,
S. Edkins,
Peter J. I. Ellis,
Paul Flicek,
Xiaosen Guo,
Xueqin Guo,
Liren Huang,
D. Jackson,
Chris Joyce,
Thomas M. Keane,
Anja Kolb-Kokocinski,
C. Langford,
Yingrui Li,
Jieqin Liang,
Hong Lin,
Ryan Liu,
J. Maslen,
Dawn Muddyman,
M. Quail,
J. Stalker,
Jianping Sun,
Jing Tian,
Guangbiao Wang,
Jun Wang,
Yu Wang,
Kim Wong,
Pingbo Zhang,
E. Birney,
C. Boustred,
Lu Chen,
Gail P. Clement,
M. Cocca,
G. Davey Smith,
I. Day,
A. Day-Williams,
T. Down,
I. Dunham,
David M. Evans,
Tom R. Gaunt,
Matthias Geihs,
D. Hart,
Bryan N. Howie,
T. Hubbard,
P. Hysi,
Y. Jamshidi,
K. Karczewski,
J. Kemp,
G. Lachance,
M. Lek,
Margarida C. Lopes,
D. MacArthur,
J. Marchini,
M. Mangino,
I. Mathieson,
S. Metrustry,
A. Moayyeri,
K. Northstone,
K. Panoutsopoulou,
L. Paternoster,
L. Quaye,
S. Ring,
G. Ritchie,
Hashem A. Shihab,
So-Youn Shin,
K. Small,
M. Soler Artigas,
L. Southam,
T. Spector,
Beate St Pourcain,
G. Surdulescu,
I. Tachmazidou,
M. Tobin,
A. Valdes,
P. Visscher,
K. Ward,
Scott G Wilson,
Jian Yang,
Feng Zhang,
Houfeng Zheng,
R. Anney,
M. Ayub,
D. Blackwood,
P. Bolton,
G. Breen,
D. Collier,
N. Craddock,
S. Curran,
D. Curtis,
L. Gallagher,
Daniel H. Geschwind,
H. Gurling,
P. Holmans,
Irene O. Lee,
J. Lönnqvist,
P. McGuffin,
A. McIntosh,
A. McKechanie,
A. McQuillin,
James A. Morris,
M. O’Donovan,
M. Owen,
A. Palotie,
J. Parr,
T. Paunio,
O. Pietilainen,
K. Rehnström,
Sally Sharp,
D. Skuse,
D. St. Clair,
J. Suvisaari,
J. Walters,
H. Williams,
E. Bochukova,
R. Bounds,
A. Dominiczak,
I. Farooqi,
J. Keogh,
G. Marenne,
Andrew P Morris,
S. O’Rahilly,
D. Porteous,
Blair H. Smith,
E. Wheeler,
Saeed H. Al Turki,
C. Anderson,
D. Antony,
Phil Beales,
J. Bentham,
S. Bhattacharya,
M. Calissano,
K. Carss,
K. Chatterjee,
S. Çırak,
Catherine Cosgrove,
D. FitzPatrick,
A. Reghan Foley,
C. Franklin,
D. Grozeva,
H. Mitchison,
F. Muntoni,
A. Onoufriadis,
V. Parker,
F. Payne,
F. Lucy Raymond,
N. Roberts,
D. Savage,
P. Scambler,
M. Schmidts,
N. Schoenmakers,
R. Semple,
E. Serra,
O. Spasic-Boskovic,
E. Stevens,
M. van Kogelenberg,
Parthiban Vijayarangakannan,
K. Williamson,
Crispian Wilson,
T. Whyte,
A. Ciampi,
K. Oualkacha,
M. Bobrow,
Heather Griffin,
J. Kaye,
Karen L Kennedy,
A. Kent,
C. Smee,
R. Charlton,
R. Ekong,
Farrah Khawaja,
L. Lopes,
N. Migone,
S. Payne,
R. Pollitt,
S. Povey,
C. Ridout,
R. Robinson,
Richard H. Scott,
A. Shaw,
P. Syrris,
Rohan Taylor,
A. Vandersteen,
A. Amuzu,
J. Pablo Casas,
J. Chambers,
G. Dedoussis,
G. Gambaro,
P. Gasparini,
A. Isaacs,
Jon Johnson,
M. Kleber,
J. Kooner,
C. Langenberg,
J. Luan,
G. Malerba,
W. März,
Angela Matchan,
RichardJ. Morris,
B. Nordestgaard,
M. Benn,
Robert A. Scott,
D. Toniolo,
M. Traglia,
A. Tybjaerg-hansen,
C. V. van Duijn,
E. V. van Leeuwen,
A. Varbo,
P. Whincup,
G. Zaza,
Weihua Zhang
|
9 |
2015 |
9
🐜
|
|
🐜
|
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left–right asymmetry
19 auth.
H. Olbrich,
K. Häffner,
A. Kispert,
Alexander Völkel,
A. Volz,
Gürsel Sasmaz,
R. Reinhardt,
S. Hennig,
H. Lehrach,
N. Konietzko,
...
M. Zariwala,
P. Noone,
M. Knowles,
H. Mitchison,
M. Meeks,
E. Chung,
F. Hildebrandt,
R. Sudbrak,
H. Omran
|
9 |
2002 |
9
🐜
|
|
🐜
|
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
239 auth.
Jie Huang,
Bryan N. Howie,
Shane A. McCarthy,
Y. Memari,
Klaudia Walter,
J. Min,
P. Danecek,
G. Malerba,
E. Trabetti,
Houfeng Zheng,
Saeed H. Al Turki,
A. Amuzu,
C. Anderson,
R. Anney,
D. Antony,
...
M. Artigas,
Muhammad Ayub,
Sendu Bala,
J. Barrett,
I. Barroso,
Phil Beales,
M. Benn,
J. Bentham,
S. Bhattacharya,
E. Birney,
D. Blackwood,
M. Bobrow,
E. Bochukova,
P. Bolton,
R. Bounds,
C. Boustred,
G. Breen,
M. Calissano,
K. Carss,
J. Pablo Casas,
J. Chambers,
R. Charlton,
Krishna Chatterjee,
Lu Chen,
A. Ciampi,
S. Çırak,
P. Clapham,
Gail P. Clement,
Guy Coates,
M. Cocca,
D. Collier,
Catherine Cosgrove,
Tony Cox,
N. Craddock,
L. Crooks,
S. Curran,
D. Curtis,
A. Daly,
I. Day,
A. Day-Williams,
G. Dedoussis,
T. Down,
Yuanping Du,
C. V. van Duijn,
I. Dunham,
S. Edkins,
R. Ekong,
Peter J. I. Ellis,
David M. Evans,
I. Farooqi,
D. FitzPatrick,
Paul Flicek,
J. Floyd,
A. Foley,
C. Franklin,
M. Futema,
L. Gallagher,
Paolo Gasparini,
Tom R. Gaunt,
Matthias Geihs,
Daniel H. Geschwind,
C. Greenwood,
Heather Griffin,
D. Grozeva,
Xiaosen Guo,
Xueqin Guo,
H. Gurling,
D. Hart,
A. Hendricks,
P. Holmans,
Liren Huang,
T. Hubbard,
S. Humphries,
M. Hurles,
P. Hysi,
V. Iotchkova,
A. Isaacs,
D. Jackson,
Y. Jamshidi,
Jon Johnson,
Chris Joyce,
K. Karczewski,
J. Kaye,
Thomas M. Keane,
J. Kemp,
Karen L Kennedy,
A. Kent,
J. Keogh,
Farrah Khawaja,
M. Kleber,
M. van Kogelenberg,
Anja Kolb-Kokocinski,
J. Kooner,
G. Lachance,
C. Langenberg,
C. Langford,
D. Lawson,
Irene O. Lee,
E. V. van Leeuwen,
M. Lek,
Rui Li,
Yingrui Li,
Jieqin Liang,
Hong Lin,
Ryan Liu,
J. Lönnqvist,
L. Lopes,
Margarida C. Lopes,
J. Luan,
D. MacArthur,
M. Mangino,
G. Marenne,
Winfried März,
J. Maslen,
Angela Matchan,
I. Mathieson,
P. McGuffin,
A. McIntosh,
A. McKechanie,
A. McQuillin,
S. Metrustry,
N. Migone,
H. Mitchison,
A. Moayyeri,
James A. Morris,
RichardJ. Morris,
Dawn Muddyman,
Francesco Muntoni,
B. Nordestgaard,
K. Northstone,
M. O’Donovan,
S. O’Rahilly,
A. Onoufriadis,
K. Oualkacha,
M. Owen,
A. Palotie,
K. Panoutsopoulou,
V. Parker,
J. Parr,
L. Paternoster,
T. Paunio,
F. Payne,
S. Payne,
J. Perry,
O. Pietilainen,
V. Plagnol,
R. Pollitt,
S. Povey,
M. Quail,
L. Quaye,
L. Raymond,
K. Rehnström,
C. Ridout,
S. Ring,
G. Ritchie,
N. Roberts,
R. Robinson,
D. Savage,
P. Scambler,
S. Schiffels,
M. Schmidts,
N. Schoenmakers,
Richard H. Scott,
Robert A. Scott,
R. Semple,
E. Serra,
Sally Sharp,
A. Shaw,
Hashem A. Shihab,
So-Youn Shin,
D. Skuse,
K. Small,
C. Smee,
G. D. Smith,
L. Southam,
O. Spasic-Boskovic,
T. Spector,
D. St. Clair,
Beate St Pourcain,
J. Stalker,
E. Stevens,
Jianping Sun,
G. Surdulescu,
J. Suvisaari,
P. Syrris,
I. Tachmazidou,
Rohan Taylor,
Jinghong Tian,
M. Tobin,
D. Toniolo,
M. Traglia,
A. Tybjaerg-hansen,
A. Valdes,
A. Vandersteen,
A. Varbo,
Parthiban Vijayarangakannan,
P. Visscher,
L. Wain,
J. Walters,
Guangbiao Wang,
Jun Wang,
Yu Wang,
K. Ward,
E. Wheeler,
P. Whincup,
T. Whyte,
H. Williams,
K. Williamson,
Crispian Wilson,
Scott G Wilson,
Kim Wong,
Changjiang Xu,
Jian Yang,
G. Zaza,
E. Zeggini,
Feng Zhang,
Pingbo Zhang,
Weihua Zhang,
G. Gambaro,
J. B. Richards,
R. Durbin,
N. Timpson,
J. Marchini,
N. Soranzo
|
8 |
2015 |
8
🐜
|
|
🐜
|
Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
15 auth.
L. Bartoloni,
J. Blouin,
Yanzhen Pan,
C. Gehrig,
A. Maiti,
N. Scamuffa,
C. Rossier,
M. Jorissen,
M. Armengot,
M. Meeks,
...
H. Mitchison,
E. Chung,
C. DeLozier-Blanchet,
W. Craigen,
S. Antonarakis
|
8 |
2002 |
8
🐜
|
|
🦁
|
Motile and non‐motile cilia in human pathology: from function to phenotypes
H. Mitchison,
E. Valente
|
8 |
2017 |
8
🦁
|
|
🐜
|
Primary ciliary dyskinesia: current state of the art
12 auth.
A. Bush,
R. Chodhari,
N. Collins,
F. Copeland,
P. Hall,
J. Harcourt,
...
M. Hariri,
C. Hogg,
J. Lucas,
H. Mitchison,
C. O’Callaghan,
G. Phillips
|
8 |
2007 |
8
🐜
|
|
🐢
|
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
24 auth.
Victoria H. Castleman,
L. Romio,
R. Chodhari,
R. Hirst,
Sandra C P De Castro,
K. Parker,
P. Ybot‐González,
Richard D Emes,
Stephen W. Wilson,
C. Wallis,
...
Colin A. Johnson,
R. J. Herrera,
A. Rutman,
M. Dixon,
A. Shoemark,
A. Bush,
C. Hogg,
R. Gardiner,
O. Reish,
N. Greene,
C. O’Callaghan,
S. Purton,
E. Chung,
H. Mitchison
|
8 |
2009 |
8
🐢
|
|
🐜
|
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
21 auth.
H. Olbrich,
M. Schmidts,
C. Werner,
A. Onoufriadis,
N. Loges,
J. Raidt,
N. Bánki,
A. Shoemark,
T. Burgoyne,
Saeed H. Al Turki,
...
M. Hurles,
G. Köhler,
J. Schroeder,
G. Nürnberg,
P. Nürnberg,
E. Chung,
R. Reinhardt,
J. Marthin,
K. Nielsen,
H. Mitchison,
H. Omran
|
8 |
2012 |
8
🐜
|
|
🐬
|
Diagnosis and management of primary ciliary dyskinesia
J. Lucas,
A. Burgess,
H. Mitchison,
E. Moya,
M. Williamson,
C. Hogg
|
8 |
2014 |
8
🐬
|
|
🐜
|
DYX1C1 is required for axonemal dynein assembly and ciliary motility
46 auth.
Aarti Tarkar,
N. Loges,
Christopher E. Slagle,
Richard Francis,
G. Dougherty,
Joel V Tamayo,
Brett A. Shook,
M. Cantino,
Daniel Schwartz,
C. Jahnke,
H. Olbrich,
C. Werner,
J. Raidt,
P. Pennekamp,
Marouan Abouhamed,
...
R. Hjeij,
G. Köhler,
M. Griese,
You Li,
Kristi L Lemke,
N. T. Klena,
Xiaoqin Liu,
George C Gabriel,
K. Tobita,
M. Jaspers,
L. Morgan,
A. Shapiro,
S. Letteboer,
D. Mans,
J. Carson,
M. Leigh,
Whitney E. Wolf,
Serafine Chen,
J. Lucas,
A. Onoufriadis,
V. Plagnol,
M. Schmidts,
K. Boldt,
R. Roepman,
M. Zariwala,
C. Lo,
H. Mitchison,
M. Knowles,
R. Burdine,
J. Loturco,
H. Omran
|
8 |
2013 |
8
🐜
|
|
🦁
|
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
16 auth.
H. Mitchison,
M. Schmidts,
N. Loges,
J. Freshour,
A. Dritsoula,
R. Hirst,
C. O’Callaghan,
H. Blau,
M. A. Dabbagh,
H. Olbrich,
...
P. Beales,
T. Yagi,
H. Mussaffi,
E. Chung,
H. Omran,
D. Mitchell
|
8 |
2012 |
8
🦁
|
|
🐜
|
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
27 auth.
J. Panizzi,
A. Becker-Heck,
Victoria H. Castleman,
Dalal A. Al-Mutairi,
Yan Liu,
N. Loges,
Narendra Pathak,
C. Austin-Tse,
E. Sheridan,
M. Schmidts,
H. Olbrich,
C. Werner,
K. Häffner,
N. Hellman,
R. Chodhari,
...
Amar Gupta,
A. Kramer-Zucker,
F. Olale,
R. Burdine,
A. Schier,
C. O’Callaghan,
E. Chung,
R. Reinhardt,
H. Mitchison,
S. King,
H. Omran,
I. Drummond
|
7 |
2012 |
7
🐜
|
