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π¦
|
Primary Immunodeficiencies
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Richard J. Powell
|
8 |
2008 |
8
π¦
|
|
π
|
The TNF Receptor-Associated Periodic Syndrome (TRAPS): Emerging Concepts of an Autoinflammatory Disorder
9 auth.
K. Hull,
E. Drewe,
I. Aksentijevich,
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...
J. Dean,
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D. Kastner
|
8 |
2002 |
8
π
|
|
π
|
Whole-genome sequencing of patients with rare diseases in a national health system
452 auth.
E. Turro,
W. Astle,
K. Megy,
S. GrΓ€f,
D. Greene,
O. Shamardina,
H. L. Allen,
Alba Sanchis-Juan,
M. Frontini,
C. Thys,
J. Stephens,
R. Mapeta,
O. Burren,
K. Downes,
M. Haimel,
...
Salih Tuna,
Sri V. V. Deevi,
T. Aitman,
David L. Bennett,
P. Calleja,
K. Carss,
M. Caulfield,
P. Chinnery,
P. Dixon,
D. Gale,
R. James,
A. Koziell,
M. Laffan,
A. Levine,
E. Maher,
H. Markus,
Joannella Morales,
N. Morrell,
A. Mumford,
E. Ormondroyd,
Stuart Rankin,
A. Rendon,
S. Richardson,
I. Roberts,
N. Roy,
M. Saleem,
Kenneth G. C. Smith,
H. Stark,
R. Tan,
Andreas C Themistocleous,
A. Thrasher,
H. Watkins,
A. Webster,
M. Wilkins,
C. Williamson,
J. Whitworth,
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D. Bentley,
S. Abbs,
L. Abulhoul,
J. Adlard,
Munaza Ahmed,
H. Alachkar,
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J. Almeida-King,
P. Ancliff,
R. Antrobus,
R. Armstrong,
G. Arno,
Sofie Ashford,
A. Attwood,
P. Aurora,
C. Babbs,
C. Bacchelli,
T. Bakchoul,
S. Banka,
T. Bariana,
J. Barwell,
Joana Batista,
H. Baxendale,
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A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
G. Black,
M. Bleda,
Iulia Blesneac,
D. Bockenhauer,
H. Bogaard,
Christian J. Bourne,
S. Boyce,
J. Bradley,
E. Bragin,
G. Breen,
P. Brennan,
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Matthew Brown,
A. Browning,
M. Browning,
R. Buchan,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
J. Burn,
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N. Burrows,
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G. Carr-White,
R. Casey,
Jenny Chambers,
John Chambers,
M. Chan,
Calvin Cheah,
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M. Chitre,
M. Christian,
C. Church,
J. Clayton-Smith,
M. Cleary,
Naomi Clements Brod,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
Camilla Colombo,
C. Compton,
R. Condliffe,
S. Cook,
H. Cook,
Nichola H Cooper,
P. Corris,
A. Furnell,
Fiona Cunningham,
N. Curry,
A. Cutler,
M. Daniels,
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L. Daugherty,
John Davis,
A. De Soyza,
Timothy Dent,
C. Deshpande,
Eleanor F. Dewhurst,
S. Douzgou,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
J. Edgar,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
P. Elliott,
W. Erber,
M. Erwood,
M. EstiΓΊ,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
H. Fassihi,
R. Favier,
J. Findhammer,
Debra Fletcher,
F. Flinter,
R. Floto,
T. Fowler,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
H. Gall,
V. Ganesan,
M. Gattens,
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Terence S. A. Gerighty,
A. Gharavi,
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Kate Gibson,
K. Gilmour,
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K. Gomez,
Pavels Gordins,
D. Gosal,
J. Graham,
L. Grassi,
L. Greenhalgh,
A. Greinacher,
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P. Griffiths,
S. Grigoriadou,
R. Grocock,
D. Grozeva,
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W. Hague,
R. Hague,
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K. Harkness,
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Ahamad Hassan,
G. Hayman,
A. Henderson,
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Jonathan Hoffman,
S. Holden,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
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G. Hudson,
J. Hughes,
A. Huissoon,
M. Humbert,
Sarah Hunter,
Matthew Hurles,
M. Irving,
L. Izatt,
Sally A. Johnson,
S. Jolles,
J. Jolley,
D. Josifova,
Neringa Jurkute,
Tim Karten,
J. Karten,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
P. Kelleher,
A. Kelly,
W. Kelsall,
Carly Kempster,
D. Kiely,
N. Kingston,
R. Klima,
Nils Koelling,
Myrto A. Kostadima,
G. Kovacs,
Roman Kreuzhuber,
T. Kuijpers,
Ajith Kumar,
D. Kumararatne,
M. Kurian,
F. Lalloo,
Michele P. Lambert,
A. Lawrie,
D. M. Layton,
N. Lench,
C. Lentaigne,
T. Lester,
R. Linger,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
P. Lyons,
R. Machado,
R. M. MacKenzie Ross,
B. Madan,
Jesmeen Maimaris,
S. Malka,
S. Mangles,
K. Marchbank,
S. Marks,
H. Marschall,
Andrew Marshall,
Jennifer M. Martin,
M. Mathias,
E. Matthews,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
H. McKinney,
A. McMahon,
Stuart Meacham,
A. Mead,
Ignacio CastellΓ³,
S. Mehta,
M. Michaelides,
C. Millar,
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A. Moore,
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R. Ross-Russell,
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L. Side,
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Glen Threadgold,
T. Tilly,
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J. von Ziegenweidt,
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Q. Waisfisz,
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J. Ware,
C. Watt,
L. Wedderburn,
Wei Wei,
S. Welch,
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J. Westwood,
J. Wharton,
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W. Ouwehand
|
8 |
2020 |
8
π
|
|
π
|
Simvastatin Treatment for Inflammatory Attacks of the Hyperimmunoglobulinemia D and Periodic Fever Syndrome
7 auth.
A. Simon,
E. Drewe,
J. Meer,
R. Powell,
R. Kelley,
A. Stalenhoef,
...
J. Drenth
|
7 |
2004 |
7
π
|
|
π
|
COVID-19 in patients with primary and secondary immunodeficiency: The United Kingdom experience
48 auth.
A. Shields,
S. Burns,
S. Savic,
A. Richter,
A. Anantharachagan,
G. Arumugakani,
K. Baker,
S. Bahal,
W. Bermingham,
Malini V. Bhole,
E. Boules,
P. Bright,
S. Burns,
Betsy Cleave,
J. Dempster,
...
L. Devlin,
Fatima Dhalla,
E. Drewe,
C. Duncan,
M. Dziadzio,
S. Elkhalifa,
A. Gennery,
S. Goddard,
S. Grigoriadou,
G. Hayman,
A. Herwadkar,
A. Huissoon,
R. Jain,
S. Jolles,
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L. Leeman,
S. Mahabir,
D. MacLochlainn,
E. McDermott,
S. Misbah,
H. Morsi,
S. Murng,
S. Noorani,
R. OβBrien,
Smita Y. Patel,
A. Price,
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A. Shrimpton,
C. Stroud,
P. Vaitla,
N. Verma
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7 |
2020 |
7
π
|
|
π
|
Loss-of-function nuclear factor ΞΊB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans
164 auth.
P. Tuijnenburg,
Hana Lango Allen,
Siobhan O. Burns,
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Machiel H. Jansen,
E. Staples,
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Helen E. Baxendale,
Moira J. Thomas,
Anita Chandra,
S. Kiani-Alikhan,
Hilary J. Longhurst,
Suranjith L. Seneviratne,
...
Eric Oksenhendler,
Ilenia Simeoni,
G. D. de Bree,
A. Tool,
E. V. van Leeuwen,
E. Ebberink,
A. Meijer,
Salih Tuna,
Deborah Whitehorn,
Matthew Brown,
E. Turro,
A. Thrasher,
Kenneth G. C. Smith,
James E. D. Thaventhiran,
Taco W. Kuijpers,
Z. Adhya,
H. Alachkar,
A. Anantharachagan,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
Barbara Boardman,
C. Booth,
Michael Browning,
M. Brownlie,
Siobhan O. Burns,
Anita Chandra,
H. Clifford,
Nichola H Cooper,
Sophie Davies,
J. Dempster,
L. Devlin,
R. Doffinger,
E. Drewe,
D. Edgar,
W. Egner,
T. El-shanawany,
B. Gaspar,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
S. Hackett,
R. Hague,
L. Harper,
G. Hayman,
A. Herwadkar,
Stephen Hughes,
A. Huissoon,
S. Jolles,
Julie Jones,
P. Kelleher,
N. Klein,
Taco W. Kuijpers,
D. Kumararatne,
J. Laffan,
Hana Lango Allen,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
E. McDermott,
H. Millar,
Anoop Mistry,
Valerie Morrisson,
S. Murng,
Iman Nasir,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Ellen Quinn,
I. Quinti,
A. Richter,
C. Samarghitean,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewall,
F. Shackley,
Ilenia Simeoni,
Kenneth G. C. Smith,
E. Staples,
H. Stauss,
C. Steele,
James E. D. Thaventhiran,
Moira J. Thomas,
A. Thrasher,
S. Welch,
L. Willcocks,
S. Workman,
A. Worth,
Nigel Yeatman,
P. Yong,
Sofie Ashford,
J. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
W. Ouwehand,
C. Penkett,
F. Raymond,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
Jennifer M. Martin,
S. Papadia,
Karola Rehnstrom,
W. Astle,
A. Attwood,
M. Bleda,
K. Carss,
L. Daugherty,
Sri V. V. Deevi,
S. Graf,
D. Greene,
Csaba Halmagyi,
M. Haimel,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
O. Shamardina,
Catherine Titterton,
Salih Tuna,
E. Turro,
Ping Yu,
Julie von Ziegenweldt,
A. Furnell,
R. Mapeta,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
Paula Rayner-Matthews,
C. Watt
|
7 |
2018 |
7
π
|
|
π
|
Whole genome sequencing of a sporadic primary immunodeficiency cohort
602 auth.
James E. D. Thaventhiran,
Hana Lango Allen,
O. Burren,
W. Rae,
D. Greene,
E. Staples,
Zinan Zhang,
J. H. Farmery,
Ilenia Simeoni,
E. Rivers,
Jesmeen Maimaris,
C. Penkett,
J. Stephens,
Sri V. V. Deevi,
Alba Sanchis-Juan,
...
Nicholas S. Gleadall,
Moira J. Thomas,
R. Sargur,
Pavels Gordins,
H. Baxendale,
Matthew Brown,
P. Tuijnenburg,
A. Worth,
S. Hanson,
R. Linger,
M. Buckland,
Paula Rayner-Matthews,
K. Gilmour,
C. Samarghitean,
S. Seneviratne,
D. Sansom,
A. Lynch,
K. Megy,
E. Ellinghaus,
D. Ellinghaus,
S. JΓΈrgensen,
T. Karlsen,
K. Stirrups,
A. Cutler,
D. Kumararatne,
Anita Chandra,
J. D. Edgar,
A. Herwadkar,
Nichola H Cooper,
S. Grigoriadou,
A. Huissoon,
S. Goddard,
S. Jolles,
C. Schuetz,
Felix Boschann,
S. Abbs,
Z. Adhya,
J. Adlard,
M. Afzal,
I. Ahmed,
Munaza Ahmed,
Saeed Ahmed,
T. Aitman,
H. Alachkar,
J. Alamelu,
R. Alikhan,
C. Allen,
L. Allen,
D. Allsup,
Arif Alvi,
G. Ambegaonkar,
A. Anantharachagan,
P. Ancliff,
Julie Anderson,
R. Antrobus,
R. Armstrong,
G. Arno,
G. Arumugakani,
R. Arya,
Sofie Ashford,
W. Astle,
A. Attwood,
S. Austin,
Y. Aydinok,
Waqar Ayub,
C. Babbs,
C. Bacchelli,
T. Baglin,
T. Bakchoul,
T. Bariana,
J. Barratt,
J. Barwell,
John Baski,
R. Bates,
Joana Batista,
G. Baynam,
David L. Bennett,
C. Bethune,
N. Bhatnagar,
Shahnaz Bibi,
A. Bierzynska,
T. Biss,
M. Bitner-Glindzicz,
M. Bleda,
Iulia Blesneac,
Barbara Boardman,
P. Boddana,
H. Bogaard,
C. Booth,
S. Boyce,
J. Bradley,
A. Brady,
G. Breen,
P. Brennan,
C. Brewer,
A. Briley,
Richard Brown,
M. Browning,
M. Brownlie,
Christine J. Bryson,
R. Buchan,
J. Buck,
M. Buckland,
T. Bueser,
Carmen Bugarin Diz,
S. Burns,
P. Calleja,
J. Carmichael,
G. Carr-White,
K. Carss,
R. Casey,
E. Chalmers,
Jenny Chambers,
John Chambers,
M. Chan,
Melissa V. Chan,
F. Cheng,
Ivan K. Chinn,
P. Chinnery,
M. Chitre,
S. Chong,
M. Christian,
C. Church,
E. Clement,
Naomi Clements Brod,
H. Clifford,
V. Clowes,
G. Coghlan,
Elizabeth Colby,
T. Cole,
J. Collins,
P. Collins,
R. Condliffe,
H. Cook,
S. Cook,
V. Cookson,
P. Corris,
A. Creaser-Myers,
Abigail Crisp-Hihn,
N. Curry,
Rosa Da Costa,
C. Danesino,
M. Daniels,
D. Darby,
L. Daugherty,
E. Davies,
Sophie Davies,
John Davis,
G. D. de Bree,
S. Deacock,
P. Deegan,
Sri V. V. Deevi,
J. Dempster,
Timothy Dent,
C. Deshpande,
L. Devlin,
Eleanor F. Dewhurst,
A. Dixit,
P. Dixon,
R. Doffinger,
H. Dolling,
N. Dormand,
K. Downes,
A. Drazyk,
E. Drewe,
Daniel Duarte,
T. Dutt,
Karen E. Edwards,
W. Egner,
Melanie N. Ekani,
T. El-shanawany,
S. Elkhalifa,
T. Elston,
I. Emmerson,
W. Erber,
M. Erwood,
M. EstiΓΊ,
D. G. Evans,
G. Evans,
T. Everington,
M. Eyries,
R. Favier,
H. Firth,
Maggie M. Fitzpatrick,
Debra Fletcher,
F. Flinter,
James C. Fox,
Amy J. Frary,
Courtney E. French,
K. Freson,
M. Frontini,
B. Furie,
D. Gale,
H. Gall,
A. Gardham,
H. Gaspar,
M. Gattens,
N. Ghali,
P. Ghataorhe,
S. Ghio,
H. Ghofrani,
Rohit R. Ghurye,
J. Gibbs,
R. Gilbert,
B. Girerd,
J. Girling,
P. Gissen,
K. Gorman,
D. Gosal,
S. Graf,
L. Grassi,
A. Greenhalgh,
L. Greenhalgh,
A. Greinacher,
P. Gresele,
P. Griffiths,
S. Griffiths,
D. Grozeva,
S. Hackett,
R. Hadden,
C. Hadinnapola,
R. Hague,
W. Hague,
M. Haimel,
M. Hall,
Csaba Halmagyi,
Tracey Hammerton,
H. Hanson,
K. Harkness,
A. Harper,
L. Harper,
Claire L. Harris,
C. Harrison,
D. Hart,
Ahamad Hassan,
G. Hayman,
J. Heemskerk,
S. Hegde,
A. Henderson,
R. Henderson,
A. Hensiek,
Y. Henskens,
J. Hodgson,
Jonathan Hoffman,
S. Holden,
M. Holder,
R. Horvath,
H. Houlden,
A. Houweling,
L. Howard,
Fengyuan Hu,
G. Hudson,
Sean Hughes,
Stephen Hughes,
A. E. Huis in βt Veld,
M. Humbert,
M. Hurles,
J. Hurst,
V. Irvine,
L. Izatt,
R. James,
P. Jeevaratnam,
M. Johnson,
Sally A. Johnson,
J. Jolley,
Bryony Jones,
Julie Jones,
D. Josifova,
Neringa Jurkute,
Yousuf M. Karim,
M. Karoshi,
Mary A. Kasanicki,
H. Kazkaz,
R. Kazmi,
D. Keeling,
P. Kelleher,
A. Kelly,
Carly Kempster,
F. Kennedy,
S. Kiani,
D. Kiely,
N. Kingston,
S. Kinsey,
N. Klein,
R. Klima,
E. Knox,
Myrto A. Kostadima,
G. Kovacs,
A. Koziell,
Roman Kreuzhuber,
D. Krishnakumar,
T. Kuijpers,
Ajith Kumar,
M. Kurian,
J. Laffan,
M. Laffan,
F. Lalloo,
Michele P. Lambert,
Hana Lango Allen,
S. Lawman,
A. Lawrie,
D. M. Layton,
S. Lear,
M. Lees,
C. Lentaigne,
A. Levine,
A. Lewington,
Wei Li,
R. Liesner,
B. Liu,
H. Longhurst,
Lorena E. Lorenzo,
E. Louka,
Silvia Lucato Hadeler,
Paul A. Lyons,
M. Macdougall,
R. Machado,
R. M. MacKenzie Ross,
L. Mackillop,
R. MacLaren,
B. Madan,
Laura Magee,
M. Mahdi-Rogers,
E. Maher,
M. Makris,
S. Mangles,
A. Manson,
A. Manzur,
R. Mapeta,
K. Marchbank,
P. Mark,
S. Marks,
H. Markus,
H. Marschall,
Andrew Marshall,
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