🐜
|
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 🐜
|
🐜
|
An essential role for p300/CBP in the cellular response to hypoxia.
8 auth.
Z. Arany,
L. Huang,
R. Eckner,
S. Bhattacharya,
Chian Jiang,
Mark A. Goldberg,
...
H. Franklin,
D. Livingston
|
9 |
1996 |
9 🐜
|
🐜
|
Hypoxia-inducible Factor (HIF) Asparagine Hydroxylase Is Identical to Factor Inhibiting HIF (FIH) and Is Related to the Cupin Structural Family*
13 auth.
K. Hewitson,
L. A. McNeill,
Madeline V Riordan,
Ya-min Tian,
A. Bullock,
R. Welford,
J. Elkins,
N. Oldham,
S. Bhattacharya,
J. Gleadle,
...
P. Ratcliffe,
C. Pugh,
C. Schofield
|
9 |
2002 |
9 🐜
|
🐜
|
Mouse Development and Cell Proliferation in the Absence of D-Cyclins
12 auth.
K. Kozar,
M. Ciemerych,
V. I. Rebel,
H. Shigematsu,
A. Zagozdzon,
E. Sicinska,
...
Y. Geng,
Qunyan Yu,
S. Bhattacharya,
R. Bronson,
K. Akashi,
P. Sicinski
|
9 |
2004 |
9 🐜
|
🐜
|
Cyclin E Ablation in the Mouse
10 auth.
Y. Geng,
Qunyan Yu,
E. Sicinska,
M. Das,
J. Schneider,
S. Bhattacharya,
...
W. Rideout,
R. Bronson,
H. Gardner,
P. Sicinski
|
9 |
2003 |
9 🐜
|
🦁
|
Cooperation of Stat2 and p300/CBP in signalling induced by interferon-α
7 auth.
S. Bhattacharya,
R. Eckner,
S. Grossman,
Elizabeth Oldread,
Z. Arany,
Alan D’Andrea,
...
D. Livingston
|
9 |
1996 |
9 🦁
|
🦁
|
Functional role of p35srj, a novel p300/CBP binding protein, during transactivation by HIF-1.
S. Bhattacharya,
Catherine L. Michels,
Man-Kit Leung,
Z. Arany,
A. Kung,
D. Livingston
|
8 |
1999 |
8 🦁
|
🐜
|
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
72 auth.
A. Sifrim,
M. Hitz,
A. Wilsdon,
J. Breckpot,
S. A. Turki,
B. Thienpont,
J. McRae,
Tomas W. Fitzgerald,
T. Singh,
G. Swaminathan,
E. Prigmore,
D. Rajan,
H. Abdul-Khaliq,
S. Banka,
U. Bauer,
...
J. Bentham,
F. Berger,
S. Bhattacharya,
F. Bu'Lock,
N. Canham,
Irina Colgiu,
C. Cosgrove,
H. Cox,
I. Daehnert,
A. Daly,
J. Danesh,
A. Fryer,
M. Gewillig,
E. Hobson,
K. Hoff,
T. Homfray,
A. Kahlert,
A. Ketley,
H. Kramer,
K. Lachlan,
Anne Katrin Lampe,
J. Louw,
Ashok Kumar Manickara,
D. Manase,
Karen P. McCarthy,
K. Metcalfe,
C. Moore,
R. Newbury-Ecob,
S. Omer,
W. Ouwehand,
Soo-Mi Park,
M. Parker,
T. Pickardt,
Martin O Pollard,
L. Robert,
David J Roberts,
J. Sambrook,
Kerry Setchfield,
B. Stiller,
Chris Thornborough,
O. Toka,
H. Watkins,
Denise Williams,
M. Wright,
S. Mital,
P. Daubeney,
B. Keavney,
J. Goodship,
R. Abu-Sulaiman,
S. Klaassen,
C. Wright,
H. Firth,
Jeffrey C. Barrett,
K. Devriendt,
David Fitzpatrick,
J. Brook,
M. Hurles
|
8 |
2016 |
8 🐜
|
🐜
|
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 🐜
|
🐢
|
Cardiac malformations, adrenal agenesis, neural crest defects and exencephaly in mice lacking Cited2, a new Tfap2 co-activator
10 auth.
S. Bamforth,
J. Bragança,
J. Eloranta,
J. Murdoch,
F. Marques,
Kamil R. Kranc,
...
H. Farza,
D. Henderson,
H. Hurst,
S. Bhattacharya
|
8 |
2001 |
8 🐢
|
🐜
|
Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
33 auth.
Rachel Soemedi,
I. Wilson,
J. Bentham,
R. Darlay,
A. Töpf,
D. Zélénika,
D. Zélénika,
C. Cosgrove,
Kerry Setchfield,
Chris Thornborough,
J. Granados-Riverón,
G. Blue,
J. Breckpot,
S. Hellens,
Simon Zwolinkski,
...
E. Glen,
Chrysovalanto Mamasoula,
T. Rahman,
D. Hall,
A. Rauch,
K. Devriendt,
M. Gewillig,
John O’ Sullivan,
D. Winlaw,
F. Bu'Lock,
J. Brook,
S. Bhattacharya,
M. Lathrop,
Mark Lathrop,
M. Santibanez-Koref,
H. Cordell,
J. Goodship,
B. Keavney
|
8 |
2012 |
8 🐜
|
🐜
|
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
19 auth.
Erik Engelen,
U. Akinci,
J. Bryne,
Jun Hou,
C. Gontan,
M. Moen,
D. Szumska,
C. Kockx,
W. Ijcken,
D. Dekkers,
...
Jeroen A. A. Demmers,
E. Rijkers,
S. Bhattacharya,
S. Philipsen,
L. Pevny,
F. Grosveld,
R. Rottier,
B. Lenhard,
R. Poot
|
8 |
2011 |
8 🐜
|