|
🦁
|
Hundreds of variants clustered in genomic loci and biological pathways affect human height
293 auth.
Hana Lango Allen,
K. Estrada,
G. Lettre,
S. Berndt,
M. Weedon,
F. Rivadeneira,
C. Willer,
A. Jackson,
S. Vedantam,
S. Raychaudhuri,
T. Ferreira,
A. Wood,
R. Weyant,
A. Segrè,
Elizabeth K. Speliotes,
...
E. Wheeler,
N. Soranzo,
Ju-Hyun Park,
Jian Yang,
D. Gudbjartsson,
N. Heard-Costa,
J. Randall,
L. Qi,
A. Smith,
R. Mägi,
T. Pastinen,
L. Liang,
I. Heid,
J. Luan,
G. Thorleifsson,
T. Winkler,
M. Goddard,
K. S. Lo,
Cameron D. Palmer,
T. Workalemahu,
Y. Aulchenko,
Å. Johansson,
M. Zillikens,
M. Feitosa,
T. Esko,
T. Johnson,
Shamika Ketkar,
P. Kraft,
M. Mangino,
I. Prokopenko,
D. Absher,
E. Albrecht,
F. Ernst,
N. Glazer,
C. Hayward,
J. Hottenga,
K. Jacobs,
J. Knowles,
Z. Kutalik,
K. Monda,
O. Polašek,
Michael H. Preuss,
N. W. Rayner,
N. Robertson,
V. Steinthorsdottir,
J. Tyrer,
B. Voight,
F. Wiklund,
Jianfeng Xu,
J. Zhao,
D. Nyholt,
Niina Pellikka,
M. Perola,
J. Perry,
I. Surakka,
Mari-Liis Tammesoo,
E. Altmaier,
N. Amin,
T. Aspelund,
T. Bhangale,
G. Boucher,
D. Chasman,
Constance Chen,
L. Coin,
M. Cooper,
A. Dixon,
Q. Gibson,
E. Grundberg,
K. Hao,
M. Junttila,
L. Kaplan,
J. Kettunen,
I. König,
T. Kwan,
R. Lawrence,
D. Levinson,
M. Lorentzon,
B. McKnight,
A. Morris,
Martina Müller,
J. Ngwa,
S. Purcell,
S. Rafelt,
R. Salem,
E. Salvi,
S. Sanna,
Jianxin Shi,
U. Sovio,
J. Thompson,
M. Turchin,
L. Vandenput,
D. Verlaan,
V. Vitart,
Charles White,
A. Ziegler,
P. Almgren,
A. Balmforth,
H. Campbell,
L. Citterio,
A. De Grandi,
A. Dominiczak,
J. Duan,
P. Elliott,
R. Elosúa,
J. Eriksson,
N. Freimer,
E. D. Geus,
N. Glorioso,
Shen Haiqing,
A. Hartikainen,
A. Havulinna,
A. Hicks,
J. Hui,
W. Igl,
T. Illig,
A. Jula,
E. Kajantie,
T. Kilpeläinen,
M. Koiranen,
I. Kolčić,
S. Koskinen,
P. Kovacs,
J. Laitinen,
Jianjun Liu,
M. Lokki,
A. Marušić,
A. Maschio,
T. Meitinger,
A. Mulas,
G. Paré,
A. Parker,
J. Peden,
A. Petersmann,
I. Pichler,
K. Pietiläinen,
A. Pouta,
M. Ridderstråle,
J. Rotter,
J. Sambrook,
A. Sanders,
C. Schmidt,
J. Sinisalo,
J. Smit,
H. Stringham,
G. Walters,
E. Widén,
S. Wild,
G. Willemsen,
L. Zagato,
L. Zgaga,
P. Zitting,
Helene Alavere,
M. Farrall,
W. McArdle,
M. Nelis,
M. Peters,
S. Ripatti,
J. V. van Meurs,
K. Aben,
K. Ardlie,
J. Beckmann,
J. Beilby,
R. Bergman,
S. Bergmann,
F. Collins,
D. Cusi,
M. den Heijer,
G. Eiriksdottir,
P. Gejman,
A. Hall,
A. Hamsten,
H. Huikuri,
C. Iribarren,
M. Kähönen,
J. Kaprio,
S. Kathiresan,
L. Kiemeney,
T. Kocher,
L. Launer,
T. Lehtimäki,
O. Melander,
T. Mosley,
A. Musk,
M. Nieminen,
C. O’Donnell,
C. Ohlsson,
B. Oostra,
L. Palmer,
O. Raitakari,
P. Ridker,
J. Rioux,
A. Rissanen,
C. Rivolta,
H. Schunkert,
A. Shuldiner,
D. Siscovick,
M. Stumvoll,
A. Tönjes,
J. Tuomilehto,
G. van Ommen,
J. Viikari,
A. Heath,
N. Martin,
G. Montgomery,
M. Province,
M. Kayser,
A. Arnold,
L. Atwood,
E. Boerwinkle,
S. Chanock,
P. Deloukas,
C. Gieger,
H. Grönberg,
P. Hall,
A. Hattersley,
C. Hengstenberg,
Wolfgang Hoffman,
G. Lathrop,
V. Salomaa,
S. Schreiber,
M. Uda,
D. Waterworth,
A. Wright,
T. Assimes,
I. Barroso,
A. Hofman,
K. Mohlke,
D. Boomsma,
M. Caulfield,
L. Cupples,
J. Erdmann,
C. Fox,
V. Gudnason,
U. Gyllensten,
T. Harris,
R. Hayes,
M. Jarvelin,
V. Mooser,
P. Munroe,
W. Ouwehand,
B. Penninx,
P. Pramstaller,
T. Quertermous,
I. Rudan,
N. Samani,
T. Spector,
H. Völzke,
H. Watkins,
James F. Wilson,
L. Groop,
T. Haritunians,
F. Hu,
R. Kaplan,
A. Metspalu,
K. North,
D. Schlessinger,
N. Wareham,
D. Hunter,
J. O’Connell,
D. Strachan,
H. Wichmann,
I. Borecki,
C. V. van Duijn,
E. Schadt,
U. Thorsteinsdóttir,
L. Peltonen,
A. Uitterlinden,
P. Visscher,
N. Chatterjee,
R. Loos,
M. Boehnke,
M. McCarthy,
E. Ingelsson,
C. Lindgren,
G. Abecasis,
K. Stefánsson,
T. Frayling,
J. Hirschhorn
|
10 |
2010 |
10
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|
|
🐜
|
Loss-of-function nuclear factor κB 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,
D. Greene,
Machiel H. Jansen,
E. Staples,
J. Stephens,
K. Carss,
D. Biasci,
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
🐜
|
|
🐜
|
Loss-of-function nuclear factor κB 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,
D. Greene,
Machiel H. Jansen,
E. Staples,
J. Stephens,
K. Carss,
D. Biasci,
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
🐜
|
|
🐜
|
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans
18 auth.
U. Cytlak,
A. Resteu,
S. Pagan,
Kile Green,
P. Milne,
Sheetal Maisuria,
David McDonald,
G. Hulme,
A. Filby,
Benjamin Carpenter,
...
R. Queen,
S. Hambleton,
R. Hague,
Hana Lango Allen,
James E. D. Thaventhiran,
G. Doody,
M. Collin,
V. Bigley
|
7 |
2020 |
7
🐜
|
|
🐜
|
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. Jørgensen,
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. Estiú,
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 ‘t 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,
Jennifer M. Martin,
Larahmie Masati,
M. Mathias,
Vera Matser,
E. Matthews,
A. Maw,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
E. McDermott,
S. McGowan,
Coleen McJannet,
H. McKinney,
Stuart Meacham,
A. Mead,
Ignacio Castelló,
S. Meehan,
K. Megy,
S. Mehta,
C. Mercer,
M. Michaelides,
Anna C. Michell,
D. Milford,
C. Millar,
H. Millar,
Anoop Mistry,
F. Moenen,
S. Moledina,
D. Montani,
A. Moore,
Jason Moore,
N. Morrell,
Valerie Morrisson,
M. Mozere,
K. Muir,
A. Mumford,
S. Murng,
Iman Nasir,
S. Nejentsev,
M. Newnham,
J. Ng,
A. Ngoh,
S. Noorani,
M. Noori,
P. Nurden,
J. O'Sullivan,
S. Obaji,
S. Okoli,
É. Oksenhendler,
A. Olschewski,
H. Olschewski,
A. Ong,
K. Ong,
Helen Oram,
E. Ormondroyd,
Shokri Othman,
W. Ouwehand,
A. Pantazis,
S. Papadia,
A. Papandreou,
Soo-Mi Park,
A. Parker,
D. Parry,
Georgina Parsons,
K. Pasi,
J. Paterson,
J. Payne,
A. Peacock,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
D. Perry,
Romina Petersen,
B. Piechowski-Jóźwiak,
F. Pinto,
Gary Polwarth,
Mark J. Ponsford,
S. Prasad,
I. Prokopenko,
B. Psaila,
A. Pyle,
W. Qasim,
Ellen Quinn,
I. Quinti,
S. Raina,
Lavanya Ranganathan,
J. Rankin,
Stuart Rankin,
A. Rao,
F. L. Raymond,
Karola Rehnstrom,
E. Reid,
M. Reilly,
T. Renton,
S. Revel-Vilk,
Christopher J. Rhodes,
Andrew S C Rice,
Emma E. Richards,
M. Richards,
S. Richardson,
A. Richter,
L. Robert,
I. Roberts,
M. Rondina,
E. Rosser,
P. Rothwell,
Catherine Roughley,
N. Roy,
Kevin C. Rue-Albrecht,
O. Sadeghi-Alavijeh,
M. Saleem,
R. Salmon,
N. Samani,
J. Sambrook,
R. Sandford,
S. Santra,
S. Satchell,
S. Savic,
L. Scelsi,
Gwen Schotte,
Sol Schulman,
H. Schulze,
R. Scott,
M. Scully,
C. Searle,
W. Seeger,
W. Sewell,
Denis Seyres,
F. Shackley,
O. Shamardina,
S. Shapiro,
Pankaj Sharma,
H. Shehata,
Deborah Shipley,
R. Shtoyerman,
Keith R Sibson,
L. Side,
Michael Simpson,
M. C. Sims,
M. Sinha,
S. Sivapalaratnam,
A. Skytte,
Kenneth G. C. Smith,
K. Snape,
L. Sneddon,
A. Sohal,
F. Soubrier,
L. Southgate,
M. Southwood,
M. Splitt,
Simon Staines,
H. Stark,
H. Stauss,
C. Steele,
D. Stein,
P. Stein,
K. Stirrups,
S. Stock,
M. Stubbs,
J. Suntharalingam,
E. Swietlik,
E. Symington,
R. Tait,
K. Talks,
R. Tan,
G. Taylor,
J. Thachil,
James E. D. Thaventhiran,
Andreas C Themistocleous,
D. Thomas,
E. Thomas,
Patrick Thomas,
D. Thompson,
K. Thomson,
A. Thrasher,
C. Thys,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
J. Todd,
C. Toh,
A. Tool,
M. Toshner,
M. Traylor,
C. Treacy,
Paul Treadaway,
R. Trembath,
S. Trippier,
Salih Tuna,
Wojciech Turek,
E. Turro,
P. Upton,
Rafal Urniaz,
Tom A Vale,
C. van Geet,
Natalie R. van Zuydam,
A. Vandersteen,
Marta Vazquez-Lopez,
M. Veltman,
J. Vogt,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
A. Vora,
Minka J. A. Vries,
E. Wakeling,
Neil E. Walker,
S. Walker,
R. Walsh,
Ivy Wanjiku,
J. Ware,
Timothy Q. Warner,
E. Wassmer,
H. Watkins,
Henry G. Watson,
C. Watt,
D. Waugh,
Nick Webb,
A. Webster,
Wei Wei,
Angela Welch,
S. Welch,
D. Werring,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
J. Whitworth,
M. Wilkins,
L. Willcocks,
David J. Williams,
C. Williamson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Workman,
S. Wort,
Katherine Yates,
Nigel Yeatman,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
Paul A. Lyons,
S. Savic,
E. Turro,
W. Ouwehand,
A. Thrasher,
Kenneth G. C. Smith
|
7 |
2018 |
7
🐜
|
|
🐜
|
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. Jørgensen,
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. Estiú,
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 ‘t 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,
Jennifer M. Martin,
Larahmie Masati,
M. Mathias,
Vera Matser,
E. Matthews,
A. Maw,
H. Maxwell,
P. Mcalinden,
Mark I. McCarthy,
E. McDermott,
S. McGowan,
Coleen McJannet,
H. McKinney,
Stuart Meacham,
A. Mead,
Ignacio Castelló,
S. Meehan,
K. Megy,
S. Mehta,
C. Mercer,
M. Michaelides,
Anna C. Michell,
D. Milford,
C. Millar,
H. Millar,
Anoop Mistry,
F. Moenen,
S. Moledina,
D. Montani,
A. Moore,
Jason Moore,
N. Morrell,
Valerie Morrisson,
M. Mozere,
K. Muir,
A. Mumford,
S. Murng,
Iman Nasir,
S. Nejentsev,
M. Newnham,
J. Ng,
A. Ngoh,
S. Noorani,
M. Noori,
P. Nurden,
J. O'Sullivan,
S. Obaji,
S. Okoli,
É. Oksenhendler,
A. Olschewski,
H. Olschewski,
A. Ong,
K. Ong,
Helen Oram,
E. Ormondroyd,
Shokri Othman,
W. Ouwehand,
A. Pantazis,
S. Papadia,
A. Papandreou,
Soo-Mi Park,
A. Parker,
D. Parry,
Georgina Parsons,
K. Pasi,
J. Paterson,
J. Payne,
A. Peacock,
K. Peerlinck,
C. Penkett,
J. Pepke-Zaba,
D. Perry,
Romina Petersen,
B. Piechowski-Jóźwiak,
F. Pinto,
Gary Polwarth,
Mark J. Ponsford,
S. Prasad,
I. Prokopenko,
B. Psaila,
A. Pyle,
W. Qasim,
Ellen Quinn,
I. Quinti,
S. Raina,
Lavanya Ranganathan,
J. Rankin,
Stuart Rankin,
A. Rao,
F. L. Raymond,
Karola Rehnstrom,
E. Reid,
M. Reilly,
T. Renton,
S. Revel-Vilk,
Christopher J. Rhodes,
Andrew S C Rice,
Emma E. Richards,
M. Richards,
S. Richardson,
A. Richter,
L. Robert,
I. Roberts,
M. Rondina,
E. Rosser,
P. Rothwell,
Catherine Roughley,
N. Roy,
Kevin C. Rue-Albrecht,
O. Sadeghi-Alavijeh,
M. Saleem,
R. Salmon,
N. Samani,
J. Sambrook,
R. Sandford,
S. Santra,
S. Satchell,
S. Savic,
L. Scelsi,
Gwen Schotte,
Sol Schulman,
H. Schulze,
R. Scott,
M. Scully,
C. Searle,
W. Seeger,
W. Sewell,
Denis Seyres,
F. Shackley,
O. Shamardina,
S. Shapiro,
Pankaj Sharma,
H. Shehata,
Deborah Shipley,
R. Shtoyerman,
Keith R Sibson,
L. Side,
Michael Simpson,
M. C. Sims,
M. Sinha,
S. Sivapalaratnam,
A. Skytte,
Kenneth G. C. Smith,
K. Snape,
L. Sneddon,
A. Sohal,
F. Soubrier,
L. Southgate,
M. Southwood,
M. Splitt,
Simon Staines,
H. Stark,
H. Stauss,
C. Steele,
D. Stein,
P. Stein,
K. Stirrups,
S. Stock,
M. Stubbs,
J. Suntharalingam,
E. Swietlik,
E. Symington,
R. Tait,
K. Talks,
R. Tan,
G. Taylor,
J. Thachil,
James E. D. Thaventhiran,
Andreas C Themistocleous,
D. Thomas,
E. Thomas,
Patrick Thomas,
D. Thompson,
K. Thomson,
A. Thrasher,
C. Thys,
T. Tilly,
M. Tischkowitz,
Catherine Titterton,
J. Todd,
C. Toh,
A. Tool,
M. Toshner,
M. Traylor,
C. Treacy,
Paul Treadaway,
R. Trembath,
S. Trippier,
Salih Tuna,
Wojciech Turek,
E. Turro,
P. Upton,
Rafal Urniaz,
Tom A Vale,
C. van Geet,
Natalie R. van Zuydam,
A. Vandersteen,
Marta Vazquez-Lopez,
M. Veltman,
J. Vogt,
J. von Ziegenweidt,
A. Vonk Noordegraaf,
A. Vora,
Minka J. A. Vries,
E. Wakeling,
Neil E. Walker,
S. Walker,
R. Walsh,
Ivy Wanjiku,
J. Ware,
Timothy Q. Warner,
E. Wassmer,
H. Watkins,
Henry G. Watson,
C. Watt,
D. Waugh,
Nick Webb,
A. Webster,
Wei Wei,
Angela Welch,
S. Welch,
D. Werring,
Julie Wessels,
S. Westbury,
J. Westwood,
J. Wharton,
Deborah Whitehorn,
J. Whitworth,
M. Wilkins,
L. Willcocks,
David J. Williams,
C. Williamson,
E. Wong,
N. Wood,
Y. Wood,
C. Woods,
E. Woodward,
S. Workman,
S. Wort,
Katherine Yates,
Nigel Yeatman,
P. Yong,
Tim Young,
Ping Yu,
P. Yu-Wai-Man,
Eliska Zlamalova,
Paul A. Lyons,
S. Savic,
E. Turro,
W. Ouwehand,
A. Thrasher,
Kenneth G. C. Smith
|
7 |
2018 |
7
🐜
|
|
🐜
|
Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses
38 auth.
Sarah Spencer,
S. Köstel Bal,
W. Egner,
Hana Lango Allen,
S. I. Raza,
Chi A. Ma,
Meltem Gürel,
Y. Zhang,
Guangping Sun,
R. Sabroe,
D. Greene,
W. Rae,
T. Shahin,
Katarzyna Kania,
R. Ardy,
...
M. Thian,
E. Staples,
A. Pecchia-Bekkum,
William P M Worrall,
J. Stephens,
M. Brown,
Salih Tuna,
M. York,
F. Shackley,
D. Kerrin,
R. Sargur,
Alison M Condliffe,
H. N. Tipu,
H. Kuehn,
S. Rosenzweig,
E. Turro,
S. Tavaré,
A. Thrasher,
D. Jodrell,
Kenneth G. C. Smith,
K. Boztug,
J. Milner,
James E. D. Thaventhiran
|
7 |
2019 |
7
🐜
|
|
🐜
|
Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man
17 auth.
S. Flanagan,
E. De Franco,
Hana Lango Allen,
M. Zerah,
M. Abdul-Rasoul,
J. Edge,
H. Stewart,
Elham Alamiri,
K. Hussain,
S. Wallis,
...
L. de Vries,
Ó. Rubio-Cabezas,
J. Houghton,
E. L. Edghill,
A. Patch,
S. Ellard,
A. Hattersley
|
7 |
2014 |
7
🐜
|
|
🐜
|
GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes
17 auth.
C. Shaw-Smith,
E. De Franco,
Hana Lango Allen,
Marta Batlle,
S. Flanagan,
M. Borowiec,
C. Taplin,
J. van Alfen-van der Velden,
J. Cruz-Rojo,
G. Perez de Nanclares,
...
Z. Miedzybrodzka,
G. Deja,
I. Wlodarska,
W. Młynarski,
J. Ferrer,
A. Hattersley,
S. Ellard
|
6 |
2014 |
6
🐜
|
|
🐜
|
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension
299 auth.
C. Hadinnapola,
M. Bleda,
M. Haimel,
N. Screaton,
Andrew J Swift,
P. Dorfmüller,
Stephen D. Preston,
M. Southwood,
Jules Hernández-Sánchez,
Jennifer M. Martin,
C. Treacy,
Katherine Yates,
H. Bogaard,
Colin Church,
G. Coghlan,
...
R. Condliffe,
P. Corris,
S. Gibbs,
B. Girerd,
S. Holden,
Marc Humbert,
D. Kiely,
A. Lawrie,
R. Machado,
R. M. MacKenzie Ross,
S. Moledina,
D. Montani,
M. Newnham,
A. Peacock,
J. Pepke-Zaba,
Paula Rayner-Matthews,
O. Shamardina,
F. Soubrier,
L. Southgate,
J. Suntharalingam,
M. Toshner,
R. Trembath,
A. Noordegraaf,
Martin R. Wilkins,
S. J. Wort,
J. Wharton,
S. Gräf,
N. Morrell,
T. Aitman,
David L. Bennett,
M. Caulfield,
Patrick F. Chinnery,
D. Gale,
A. Koziell,
Taco W. Kuijpers,
M. Laffan,
Eamonn R. Maher,
Hugh S. Markus,
W. Ouwehand,
David J. Perry,
F. Raymond,
Irene Roberts,
Kenneth G. C. Smith,
Adrian Thrasher,
Hugh Watkins,
C. Williamson,
G. Woods,
Sofie Ashford,
John R. Bradley,
Debra Fletcher,
Tracey Hammerton,
R. James,
N. Kingston,
C. Penkett,
K. Stirrups,
Marijke Veltman,
Tim Young,
Matthew Brown,
Naomi Clements-Brod,
John Davis,
Eleanor F. Dewhurst,
M. Erwood,
Amy J. Frary,
R. Linger,
S. Papadia,
Karola Rehnstrom,
Hannah Stark,
D. Allsup,
Steve Austin,
T. Bakchoul,
T. Bariana,
P. Bolton-Maggs,
Elizabeth Chalmers,
P. Collins,
Wendy N. Erber,
T. Everington,
R. Favier,
K. Freson,
Bruce Furie,
M. Gattens,
Keith Gomez,
D. Greene,
Andreas Greinacher,
Daniel Hart,
Johan W M Heemskerk,
Y. Henskens,
R. Kazmi,
David Keeling,
Anne M Kelly,
Michele P. Lambert,
C. Lentaigne,
R. Liesner,
S. Mangles,
M. Mathias,
C. Millar,
A. Mumford,
P. Nurden,
Jeanette Payne,
J. Pasi,
David J. Perry,
K. Peerlinck,
Michael Richards,
Matthew T Rondina,
Catherine Roughley,
Sol Schulman,
Harald Schulze,
M. Scully,
S. Sivapalaratnam,
R. C. Tait,
K. Talks,
J. Thachil,
E. Turro,
Cheng-Hock Toh,
C. van Geet,
Minka De Vries,
Timothy Q. Warner,
S. Westbury,
A. Furnell,
R. Mapeta,
Ilenia Simeoni,
Simon Staines,
J. Stephens,
Deborah Whitehorn,
C. Watt,
A. Attwood,
L. Daugherty,
Sri V. V. Deevi,
Csaba Halmagyi,
Fengyuan Hu,
Vera Matser,
Stuart Meacham,
K. Megy,
Catherine Titterton,
Salih Tuna,
Ping Yu,
Julie von Ziegenweldt,
W. Astle,
K. Carss,
H. Lango-Allen,
Sylvia Richardson,
P. Calleja,
Stuart Rankin,
Wojciech Turek,
Christine J. Bryson,
Julie Anderson,
Coleen McJannet,
S. Stock,
E. Wassmer,
A. Sohal,
S. Santra,
J. Vogt,
M. Chitre,
D. Krishnakumar,
Gautum Ambegaonkar,
Anna Maw,
R. Armstrong,
Soo-Mi Park,
S. Mehta,
J. Paterson,
J. Carmichael,
L. Allen,
Anke Hensiek,
Helen V Firth,
Penelope Stein,
P. Deegan,
R. Doffinger,
Alasdair P. Parker,
M. Bitner-Glindzicz,
R. Scott,
Jane A Hurst,
E. Rosser,
Melissa Lees,
Emma Clement,
R. Henderson,
Dorothy A Thompson,
A. Gardham,
P. Gissen,
D. Josifova,
E. Thomas,
Chris Patch,
C. Deshpande,
Frances A Flinter,
M. Holder,
N. Canham,
E. Wakeling,
S. Holder,
N. Ghali,
A. Brady,
V. Clowes,
R. MacLaren,
A. Webster,
Anthony L Moore,
G. Arno,
M. Michaelides,
Julia Rankin,
M. Kurian,
Elaine Murphy,
Alba Sanchis-Juan,
D. Grozeva,
Evan Reid,
G. Woods,
M. Tischkowitz,
R. Sandford,
Sonia Ali,
A. Creaser-Myers,
V. Cookson,
Rosa Dacosta,
N. Dormand,
P. Ghataorhe,
A. Greenhalgh,
Anna E. Huis in’t Veld,
Fiona Kennedy,
R. M. MacKenzie Ross,
Larahmie Masati,
S. Meehan,
Shokri Othman,
Val Pollock,
Gary Polwarth,
Christopher J. Rhodes,
Kevin C. Rue-Albrecht,
Gwen Schotte,
Deborah Shipley,
Yvonne Tan,
Ivy Wanjiku,
John Wort,
Taco W. Kuijpers,
James E. D. Thaventhiran,
Hana Lango Allen,
E. Staples,
C. Samarghitean,
H. Alachkar,
R. Antrobus,
G. Arumugakani,
C. Bacchelli,
Helen E. Baxendale,
C. Bethune,
Shahnaz Bibi,
C. Booth,
Michael Browning,
Siobhan O. Burns,
Anita Chandra,
Nicholas J. Cooper,
Sophie Davies,
Lisa Devlin,
E. Drewe,
David Edgar,
William Egner,
Rohit R. Ghurye,
K. Gilmour,
S. Goddard,
Pavels Gordins,
S. Grigoriadou,
Scott Hackett,
Rosie Hague,
G. Hayman,
A. Herwadkar,
A. Huissoon,
Stephen Jolles,
P. Kelleher,
D. Kumararatne,
S. Lear,
Hilary J. Longhurst,
Lorena E. Lorenzo,
Jesmeen Maimaris,
A. Manson,
Elizabeth McDermott,
S. Murng,
S. Nejentsev,
S. Noorani,
Eric Oksenhendler,
Mark J. Ponsford,
W. Qasim,
Isabella Quinti,
Alex Richter,
R. Sargur,
S. Savic,
Suranjith L. Seneviratne,
C. Sewell,
Hans-Jürgen Stauss,
Moira J. Thomas,
S. Welch,
L. Willcocks,
Nigel Yeatman,
Patrick Yong
|
6 |
2017 |
6
🐜
|
|
🐜
|
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
41 auth.
K. Stals,
M. Wakeling,
J. Baptista,
R. Caswell,
A. Parrish,
J. Rankin,
C. Tysoe,
Garan Jones,
A. Gunning,
Hana Lango Allen,
L. Bradley,
A. Brady,
H. Carley,
J. Carmichael,
B. Castle,
...
D. Cilliers,
H. Cox,
C. Deshpande,
A. Dixit,
J. Eason,
F. Elmslie,
A. Fry,
A. Fryer,
M. Holder,
T. Homfray,
E. Kivuva,
V. McKay,
R. Newbury-Ecob,
M. Parker,
R. Savarirayan,
C. Searle,
N. Shannon,
D. Shears,
S. Smithson,
E. Thomas,
P. Turnpenny,
V. Varghese,
P. Vasudevan,
E. Wakeling,
E. Baple,
S. Ellard
|
5 |
2017 |
5
🐜
|
