|
🐜
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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
🐜
|
|
🐜
|
Identification of Type 1 Diabetes–Associated DNA Methylation Variable Positions That Precede Disease Diagnosis
17 auth.
V. Rakyan,
H. Beyan,
T. Down,
M. Hawa,
Siarhei Maslau,
Deeqo Aden,
Antoine Daunay,
F. Busato,
C. Mein,
B. Manfras,
...
Kerith-Rae Dias,
C. Bell,
Jö Rg Tost,
B. Boehm,
S. Beck,
R. David Leslie,
Michel Georges
|
8 |
2010 |
8
🐜
|
|
🐜
|
A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
41 auth.
V. Gennarino,
E. Palmer,
Laura M McDonell,
Li Wang,
Carolyn J. Adamski,
Amanda M Koire,
Lauren See,
Chun-An Chen,
C. Schaaf,
J. Rosenfeld,
J. Panzer,
U. Moog,
Shuang Hao,
A. Bye,
E. Kirk,
...
P. Stankiewicz,
Amy M. Breman,
A. McBride,
T. Kandula,
Holly A. Dubbs,
R. Macintosh,
M. Cardamone,
Ying Zhu,
Kevin Ying,
Kerith-Rae Dias,
M. Cho,
Lindsay B. Henderson,
B. Baskin,
Paula Morris,
Jiang Tao,
M. Cowley,
M. Dinger,
T. Roscioli,
O. Caluseriu,
O. Suchowersky,
R. Sachdev,
O. Lichtarge,
Jianrong Tang,
K. Boycott,
J. Holder,
H. Zoghbi
|
6 |
2018 |
6
🐜
|
|
🐜
|
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
26 auth.
E. Palmer,
D. Schofield,
Rupendra T. Shrestha,
T. Kandula,
R. Macintosh,
J. Lawson,
I. Andrews,
H. Sampaio,
Alexandra M. Johnson,
M. Farrar,
M. Cardamone,
D. Mowat,
G. Elakis,
William Lo,
Ying Zhu,
...
Kevin Ying,
Paula Morris,
Jiang Tao,
Kerith-Rae Dias,
M. Buckley,
M. Dinger,
M. Cowley,
T. Roscioli,
E. Kirk,
A. Bye,
R. Sachdev
|
6 |
2018 |
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
🐜
|
|
🐜
|
Microbial Community Analysis of Human Decomposition on Soil
7 auth.
Rachel A. Parkinson,
Kerith-Rae Dias,
J. Horswell,
P. Greenwood,
N. Banning,
M. Tibbett,
...
A. Vass
|
6 |
2009 |
6
🐜
|
|
🐜
|
Germline AGO2 mutations impair RNA interference and human neurological development
76 auth.
D. Lessel,
D. Zeitler,
Margot R. F. Reijnders,
Margot R. F. Reijnders,
Andriy Kazantsev,
Fatemeh Hassani Nia,
Alexander Bartholomäus,
V. Martens,
A. Bruckmann,
Veronika Graus,
A. McConkie-Rosell,
M. McDonald,
B. Lozić,
Ee-Shien Tan,
E. Gerkes,
...
J. Johannsen,
J. Denecke,
A. Telegrafi,
E. Zonneveld-Huijssoon,
H. Lemmink,
B. Cham,
T. Kovačević,
Linda A. Ramsdell,
Kimberly Foss,
Diana Le Duc,
D. Mitter,
S. Syrbe,
A. Merkenschlager,
M. Sinnema,
B. Panis,
J. Lazier,
M. Osmond,
T. Hartley,
J. Mortreux,
T. Busa,
C. Missirian,
P. Prasun,
S. Lüttgen,
I. Mannucci,
Ivana Lessel,
Claudia Schob,
S. Kindler,
J. Pappas,
R. Rabin,
M. Willemsen,
T. Gardeitchik,
Katharina Löhner,
P. Rump,
Kerith-Rae Dias,
Kerith-Rae Dias,
Carey-Anne Evans,
Carey-Anne Evans,
P. I. Andrews,
P. I. Andrews,
T. Roscioli,
T. Roscioli,
H. Brunner,
H. Brunner,
Chieko Chijiwa,
M. Lewis,
R. Jamra,
D. Dyment,
K. Boycott,
Alexander P. A. Stegmann,
Alexander P. A. Stegmann,
C. Kubisch,
Ene-Choo Tan,
G. Mirzaa,
G. Mirzaa,
K. McWalter,
T. Kleefstra,
R. Pfundt,
R. Pfundt,
Z. Ignatova,
G. Meister,
H. Kreienkamp
|
5 |
2020 |
5
🐜
|
|
🐜
|
Germline AGO2 mutations impair RNA interference and human neurological development
76 auth.
D. Lessel,
D. Zeitler,
Margot R. F. Reijnders,
Margot R. F. Reijnders,
Andriy Kazantsev,
Fatemeh Hassani Nia,
Alexander Bartholomäus,
V. Martens,
A. Bruckmann,
Veronika Graus,
A. McConkie-Rosell,
M. McDonald,
B. Lozić,
Ee-Shien Tan,
E. Gerkes,
...
J. Johannsen,
J. Denecke,
A. Telegrafi,
E. Zonneveld-Huijssoon,
H. Lemmink,
B. Cham,
T. Kovačević,
Linda A. Ramsdell,
Kimberly Foss,
Diana Le Duc,
D. Mitter,
S. Syrbe,
A. Merkenschlager,
M. Sinnema,
B. Panis,
J. Lazier,
M. Osmond,
T. Hartley,
J. Mortreux,
T. Busa,
C. Missirian,
P. Prasun,
S. Lüttgen,
I. Mannucci,
Ivana Lessel,
Claudia Schob,
S. Kindler,
J. Pappas,
R. Rabin,
M. Willemsen,
T. Gardeitchik,
Katharina Löhner,
P. Rump,
Kerith-Rae Dias,
Kerith-Rae Dias,
Carey-Anne Evans,
Carey-Anne Evans,
P. I. Andrews,
P. I. Andrews,
T. Roscioli,
T. Roscioli,
H. Brunner,
H. Brunner,
Chieko Chijiwa,
M. Lewis,
R. Jamra,
D. Dyment,
K. Boycott,
Alexander P. A. Stegmann,
Alexander P. A. Stegmann,
C. Kubisch,
Ene-Choo Tan,
G. Mirzaa,
G. Mirzaa,
K. McWalter,
T. Kleefstra,
R. Pfundt,
R. Pfundt,
Z. Ignatova,
G. Meister,
H. Kreienkamp
|
5 |
2020 |
5
🐜
|
|
🐜
|
Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine.
18 auth.
E. Palmer,
Jaclyn N. Hayner,
R. Sachdev,
M. Cardamone,
T. Kandula,
Paula Morris,
Kerith-Rae Dias,
Jiang Tao,
David Miller,
Ying Zhu,
...
R. Macintosh,
M. Dinger,
M. Cowley,
M. Buckley,
T. Roscioli,
A. Bye,
M. Kilberg,
E. Kirk
|
5 |
2015 |
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
🐜
|
