|
🐜
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Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease
92 auth.
G. Trynka,
K. Hunt,
N. Bockett,
J. Romanos,
Vanisha Mistry,
A. Szperl,
S. Bakker,
M. Bardella,
Leena Bhaw-Rosun,
G. Castillejo,
E. G. Concha,
R. Almeida,
Kerith-Rae Dias,
C. V. Diemen,
P. Dubois,
...
R. Duerr,
S. Edkins,
L. Franke,
K. Fransén,
Javier Gutiérrez,
Graham A. R. Heap,
B. Hrdličková,
S. Hunt,
Leticia Plaza Izurieta,
V. Izzo,
L. Joosten,
C. Langford,
M. C. Mazzilli,
C. Mein,
V. Midah,
M. Mitrovič,
B. Mora,
M. Morelli,
S. Nutland,
C. Núñez,
S. Onengut-Gumuscu,
K. Pearce,
M. Platteel,
I. Polanco,
Simon C. Potter,
C. Ribes-Koninckx,
I. Ricaño-Ponce,
S. Rich,
A. Rybak,
J. L. Santiago,
Sabyasachi Senapati,
A. Sood,
H. Szajewska,
R. Troncone,
J. Varadé,
C. Wallace,
V. Wolters,
A. Zhernakova,
B. K. Thelma,
B. Cukrowska,
E. Urcelay,
J. Bilbao,
M. Mearin,
D. Barisani,
J. Barrett,
V. Plagnol,
P. Deloukas,
C. Wijmenga,
D. Heel,
M. Alsina,
M. E. Comas,
Laura Pardo Grau,
L. Castaño,
P. Oliver,
J. C. Vitoria,
Luís Rodrigo,
C. López-Larrea,
A. López-Vázquez,
I. Hualde,
Z. García,
Blanca Hernández Charro,
M. Ramos-Arroyo,
F. Sánchez-Valverde,
C. Farré,
T. Marqués,
P. Vilar,
E. Arranz,
J. A. Garrote,
R. Auricchio,
C. Esch,
A. Chmielewska,
Gosia Piescik,
E. Martínez,
V. Varea,
F. M. Cerezo,
E. Donat-Aliaga,
J. Escribano
|
9 |
2011 |
9
🐜
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|
🐜
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Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy.
29 auth.
H. Stanescu,
M. Arcos-Burgos,
A. Medlar,
D. Bockenhauer,
Anna Kottgen,
L. Dragomirescu,
C. Voinescu,
N. Patel,
K. Pearce,
M. Hubank,
H. Stephens,
V. Laundy,
S. Padmanabhan,
A. Zawadzka,
J. Hofstra,
...
M. Coenen,
M. den Heijer,
L. Kiemeney,
D. Bacq-Daian,
B. Stengel,
S. Powis,
P. Brenchley,
J. Feehally,
A. Rees,
H. Dębiec,
J. Wetzels,
P. Ronco,
P. Mathieson,
R. Kleta
|
8 |
2011 |
8
🐜
|
|
🐜
|
Identification of mutations in CUL7 in 3-M syndrome
28 auth.
C. Huber,
D. Dias-Santagata,
A. Glaser,
J. O’Sullivan,
R. Brauner,
Kenneth Wu,
Xinsong Xu,
K. Pearce,
Rong Wang,
M. L. Uzielli,
N. Dagoneau,
W. Chemaitilly,
A. Superti-Furga,
H. D. Santos,
A. Mégarbané,
...
G. Morin,
G. Gillessen‐Kaesbach,
R. Hennekam,
I. Burgt,
G. Black,
P. Clayton,
A. Read,
M. Merrer,
P. Scambler,
A. Munnich,
Z. Pan,
R. Winter,
V. Cormier-Daire
|
7 |
2005 |
7
🐜
|
|
🐜
|
Genome-wide DNA methylation analysis of archival formalin-fixed paraffin-embedded tissue using the Illumina Infinium HumanMethylation27 BeadChip.
8 auth.
C. Thirlwell,
Marianne Eymard,
A. Feber,
A. Teschendorff,
K. Pearce,
M. Lechner,
...
M. Widschwendter,
S. Beck
|
6 |
2010 |
6
🐜
|
|
🐜
|
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
12 auth.
A. Rajab,
D. Kelberman,
Sandra C P De Castro,
H. Biebermann,
H. Shaikh,
K. Pearce,
...
C. Hall,
G. Shaikh,
D. Gerrelli,
A. Grueters,
H. Krude,
M. Dattani
|
6 |
2008 |
6
🐜
|
|
🐜
|
Molecular study of 33 families with Fraser syndrome new data and mutation review
9 auth.
M. Haelst,
Merel C. Maiburg,
G. Baujat,
S. Jadeja,
E. Monti,
E. Bland,
...
K. Pearce,
R. Hennekam,
P. Scambler
|
6 |
2008 |
6
🐜
|
|
🐜
|
Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations
262 auth.
A. Márquez,
M. Kerick,
A. Zhernakova,
Javier Gutiérrez-Achury,
Wei-Min Chen,
S. Onengut-Gumuscu,
I. González-Álvaro,
L. Rodríguez-Rodríguez,
R. Ríos-Fernandez,
M. González-Gay,
G. Trynka,
K. Hunt,
N. Bockett,
J. Romanos,
Vanisha Mistry,
...
A. Szperl,
S. Bakker,
M. Bardella,
Leena Bhaw-Rosun,
G. Castillejo,
E. G. de la Concha,
R. C. de Almeida,
Kerith-Rae Dias,
C. V. van Diemen,
P. Dubois,
R. Duerr,
S. Edkins,
L. Franke,
K. Fransén,
Javier Gutiérrez,
Graham A. R. Heap,
B. Hrdličková,
Sarah E. Hunt,
Leticia Plaza Izurieta,
V. Izzo,
L. Joosten,
C. Langford,
M. C. Mazzilli,
C. Mein,
V. Midah,
M. Mitrovič,
B. Mora,
M. Morelli,
Sarah Nutlan,
K. Pearce,
M. Platteel,
I. Polanco,
Simon C. Potter,
C. Ribes-Koninckx,
I. Ricaño-Ponce,
A. Rybak,
J. L. Santiago,
Sabyasachi Senapati,
A. Sood,
H. Szajewska,
R. Troncone,
J. Varadé,
C. Wallace,
V. Wolters,
A. Zhernakova,
B. K. Thelma,
B. Cukrowska,
E. Urcelay,
J. Bilbao,
M. Luisa Mearin,
D. Barisani,
J. Barrett,
V. Plagnol,
C. Wijmenga,
D. V. van Heel,
S. Eyre,
J. Bowes,
D. Diogo,
Annette T. Lee,
A. Barton,
Paul Martin,
E. Stahl,
S. Viatte,
Kate Mcallister,
C. Amos,
L. Padyukov,
R. Toes,
T. Huizinga,
H. Westra,
L. Alfredsson,
Xinli Hu,
C. Sandor,
S. Davila,
C. Khor,
K. Heng,
Robert Andrews,
Sarah E. Hunt,
D. Symmons,
P. Concannon,
Stephen S. Rich,
M. González-Gay,
L. Rodríguez-Rodríguez,
Lisbeth Ärlsetig,
Javier Martín,
S. Rantapää-Dahlqvist,
R. Plenge,
Soumya Raychaudhuri,
Lars Klareskog,
P. Gregersen,
Jane Worthington,
Maureen D. Mayes,
L. Bossini‐Castillo,
O. Gorlova,
Xiaodong Zhou,
Wei V. Chen,
S. Assassi,
Jun Ying,
F. Tan,
F. Arnett,
J. Reveille,
S. Guerra,
Annette T. Lee,
C. Simeón,
P. Carreira,
I. Castellví,
M. González-Gay,
L. Beretta,
A. Voskuyl,
P. Airò,
C. Lunardi,
P. Shiels,
J. V. van Laar,
A. Herrick,
C. Denton,
J. Broen,
T. Radstake,
C. Fonseca,
B. Koeleman,
R. Ríos,
J. Callejas,
J. A. Vargas Hitos,
R. García Portales,
M. Camps,
A. Fernández-Nebro,
M. González-Escribano,
F. García-Hernández,
Marcelita Castillo,
M. Aguirre,
I. Gómez-Gracia,
L. Rodríguez-Rodríguez,
P. García de la Peña,
E. Vicente,
J. Andreu,
M. Fernández de Castro,
F. López-longo,
L. Martínez,
V. Fonollosa,
A. Guillén,
G. Espinosa,
C. Tolosa,
A. Pros,
M. Rodríguez Carballeira,
F. Narváez,
M. Rubio Rivas,
V. Ortiz-Santamaria,
A. Madroñero,
B. Díaz,
L. Trapiella,
A. Sousa,
M. Egurbide,
P. Fanlo Mateo,
L. Sáez-comet,
Federico Díaz,
V. Hernández,
E. Beltrán,
J. Román-Ivorra,
E. Grau,
J. Alegre-Sancho,
F. B. Blanco García,
N. Oreiro,
N. Ortego-Centeno,
M. Freire,
B. Fernández-Gutiérrez,
A. Balsa,
A. M. Ortiz,
J. D. de Vries-Bouwstra,
C. Magro-Checa,
A. Santaniello,
C. Bellocchi,
G. Moroncini,
A. Gabrielli,
E. Adlem,
James Allen,
J. Barrett,
Judy Brown,
O. Burren,
Pamela Clarke,
D. Clayton,
Gillian Coleman,
Jason Cooper,
F. Cucca,
L. Davison,
K. Downes,
Simon Duley,
D. Dunger,
L. Esposito,
Vincent H. Everett,
Sarah F. Field,
J. Hafler,
Matthew Hardy,
D. Harrison,
Inge Harrison,
Steve Hawkins,
B. Healy,
S. Hood,
S. Howell,
M. Maisuria,
William Meadows,
Trupti Mistry,
Sergey Nezhenstsev,
S. Nutland,
Nigel R. Ovington,
Daniel B. Rainbow,
Kara M. Rainbow,
S. Raj,
Helen Schuilenburg,
A. Simpson,
L. Smink,
D. Smyth,
H. Stevens,
N. Taylor,
J. Todd,
J. Tuomilehto,
N. Walker,
L. Wicker,
B. Widmer,
Mark Wilson,
H. Withers,
Jennie H. M. Yang,
Mark Brown,
Arnetta Crews,
J. Griffin,
M. Hall,
Teresa Harnish,
John Hepler,
J. Hilner,
Nancy King,
K. Lohman,
Lingyi Lu,
J. Mychaleckyj,
J. Nail,
Letitia H Perdue,
J. Pierce,
D. Reboussin,
S. Rushing,
M. Sale,
Elizabeth G. Sides,
B. Snively,
H. Teuschler,
Goodrich Theil,
Lynne M Wagenknecht,
Dustin Williams,
Maureen D. Mayes,
Soumya Raychaudhuri,
Stephen S. Rich,
C. Wijmenga,
Javier Martín
|
6 |
2018 |
6
🐜
|
|
🐜
|
Hes1 expression is reduced in Tbx1 null cells and is required for the development of structures affected in 22q11 deletion syndrome
10 auth.
Kelly Lammerts van Bueren,
I. Papangeli,
F. Rochais,
K. Pearce,
C. Roberts,
A. Calmont,
...
D. Szumska,
R. Kelly,
S. Bhattacharya,
P. Scambler
|
6 |
2010 |
6
🐜
|
|
🐜
|
Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study
10 auth.
S. Rahman,
Russell Ecob,
Harry Costello,
M. Sweeney,
A. Duncan,
K. Pearce,
...
David P. Strachan,
Andrew Forge,
Adrian Davis,
M. Bitner-Glindzicz
|
5 |
2012 |
5
🐜
|
|
🐜
|
Rare and functional SIAE variants are not associated with autoimmune disease risk in up to 66,924 individuals of European ancestry
65 auth.
K. Hunt,
D. Smyth,
T. Balschun,
M. Ban,
Vanisha Mistry,
T. Ahmad,
Vidya Anand,
J. Barrett,
Leena Bhaw-Rosun,
N. Bockett,
O. Brand,
E. Brouwer,
P. Concannon,
J. Cooper,
Kerith-Rae Dias,
...
C. V. Diemen,
P. Dubois,
S. Edkins,
R. Fölster-Holst,
K. Fransén,
D. Glass,
G. Heap,
S. Hofmann,
T. Huizinga,
S. Hunt,
C. Langford,
James Lee,
J. Mansfield,
M. Marrosu,
C. Mathew,
C. Mein,
J. Müller‐Quernheim,
S. Nutland,
S. Onengut-Gumuscu,
W. Ouwehand,
K. Pearce,
N. Prescott,
M. Posthumus,
Simon C. Potter,
G. Rosati,
J. Sambrook,
J. Satsangi,
S. Schreiber,
Corina J Shtir,
M. Simmonds,
M. Sudman,
S. Thompson,
R. Toes,
G. Trynka,
T. Vyse,
N. Walker,
S. Weidinger,
A. Zhernakova,
M. Zoledziewska,
R. Weersma,
S. Gough,
S. Sawcer,
C. Wijmenga,
M. Parkes,
F. Cucca,
A. Franke,
P. Deloukas,
S. Rich,
J. Todd,
D. Heel
|
5 |
2011 |
5
🐜
|
