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Evidence for 28 genetic disorders discovered by combining healthcare and research data
281 auth.
J. Kaplanis,
K. Samocha,
L. Wiel,
Zhancheng Zhang,
Kevin J. Arvai,
R. Y. Eberhardt,
G. Gallone,
Stefan H. Lelieveld,
H. Martin,
J. McRae,
Patrick J. Short,
R. Torene,
E. de Boer,
P. Danecek,
E. Gardner,
...
N. Huang,
J. Lord,
I. Martincorena,
R. Pfundt,
Margot R. F. Reijnders,
A. Yeung,
H. Yntema,
Silvia Borras,
C. Clark,
J. Dean,
Z. Miedzybrodzka,
A. Ross,
S. Tennant,
T. Dabir,
D. Donnelly,
M. Humphreys,
A. Magee,
V. Mcconnell,
S. McKee,
S. McNerlan,
P. Morrison,
Gillian Rea,
F. Stewart,
T. Cole,
N. Cooper,
Lisa Cooper-Charles,
H. Cox,
L. Islam,
J. Jarvis,
Rebecca Keelagher,
D. Lim,
D. McMullan,
J. Morton,
S. Naik,
M. O'Driscoll,
K. Ong,
D. Osio,
N. Ragge,
Sarah E Turton,
J. Vogt,
Denise Williams,
S. Bodek,
A. Donaldson,
A. Hills,
K. Low,
R. Newbury-Ecob,
A. Norman,
E. Roberts,
I. Scurr,
S. Smithson,
Madeleine J Tooley,
S. Abbs,
R. Armstrong,
C. Dunn,
S. Holden,
Soo-Mi Park,
J. Paterson,
L. Raymond,
E. Reid,
R. Sandford,
I. Simonic,
M. Tischkowitz,
G. Woods,
L. Bradley,
Joanne Comerford,
A. Green,
S. Lynch,
S. McQuaid,
B. Mullaney,
J. Berg,
D. Goudie,
Eleni Mavrak,
Joanne McLean,
C. Mcwilliam,
E. Reavey,
T. Azam,
Elaine M. Cleary,
Andrew Jackson,
W. Lam,
A. Lampe,
D. Moore,
M. Porteous,
E. Baple,
J. Baptista,
C. Brewer,
B. Castle,
E. Kivuva,
M. Owens,
J. Rankin,
C. Shaw-Smith,
C. Turner,
P. Turnpenny,
C. Tysoe,
T. Bradley,
R. Davidson,
C. Gardiner,
S. Joss,
E. Kinning,
C. Longman,
R. McGowan,
V. Murday,
D. Pilz,
E. Tobias,
M. Whiteford,
N. Williams,
A. Barnicoat,
E. Clement,
F. Faravelli,
J. Hurst,
L. Jenkins,
W. Jones,
V. K. A. Kumar,
M. Lees,
S. Loughlin,
Alison M. Male,
D. Morrogh,
E. Rosser,
R. Scott,
L. Wilson,
A. Beleza,
C. Deshpande,
F. Flinter,
M. Holder,
M. Irving,
L. Izatt,
D. Josifova,
S. Mohammed,
Aneta Molenda,
L. Robert,
W. Roworth,
D. Ruddy,
Mina Ryten,
S. Yau,
C. Bennett,
Moira Blyth,
Jennifer Campbell,
A. Coates,
A. Dobbie,
S. Hewitt,
E. Hobson,
Eilidh Jackson,
Rosalyn Jewell,
A. Kraus,
K. Prescott,
Eamonn Sheridan,
J. Thomson,
Kirsty Bradshaw,
A. Dixit,
J. Eason,
R. Haines,
R. Harrison,
Stacey Mutch,
A. Sarkar,
C. Searle,
N. Shannon,
A. Sharif,
M. Suri,
P. Vasudevan,
N. Canham,
I. Ellis,
L. Greenhalgh,
Emma Howard,
V. Stinton,
Andrew Swale,
A. Weber,
S. Banka,
Catherine Breen,
T. Briggs,
E. Burkitt-Wright,
K. Chandler,
J. Clayton-Smith,
D. Donnai,
S. Douzgou,
L. Gaunt,
E. Jones,
B. Kerr,
Claire Langley,
K. Metcalfe,
Audrey Smith,
R. Wright,
D. Bourn,
J. Burn,
R. Fisher,
S. Hellens,
A. Henderson,
T. Montgomery,
M. Splitt,
Volker Straub,
Michael Wright,
S. Zwolinski,
Zoe Allen,
B. Bernhard,
A. Brady,
Claire Brooks,
Louise Busby,
V. Clowes,
N. Ghali,
S. Holder,
Rita Ibitoye,
E. Wakeling,
Edward Blair,
J. Carmichael,
D. Cilliers,
S. Clasper,
Richard J. Gibbons,
U. Kini,
T. Lester,
Andrea M. Nemeth,
J. Poulton,
S. Price,
D. Shears,
H. Stewart,
Andrew Wilkie,
S. Albaba,
Duncan Baker,
M. Balasubramanian,
Diana S. Johnson,
M. Parker,
O. Quarrell,
A. Stewart,
J. Willoughby,
C. Crosby,
F. Elmslie,
T. Homfray,
Huilin Jin,
N. Lahiri,
S. Mansour,
K. Marks,
M. McEntagart,
A. Saggar,
K. Tatton-Brown,
R. Butler,
A. Clarke,
S. Corrin,
A. Fry,
Arveen Kamath,
E. McCann,
H. Mugalaasi,
C. Pottinger,
A. Procter,
J. Sampson,
F. Sansbury,
V. Varghese,
D. Baralle,
A. Callaway,
Emma-Jane Cassidy,
Stacey Daniels,
A. Douglas,
N. Foulds,
D. Hunt,
Mira Kharbanda,
K. Lachlan,
C. Mercer,
L. Side,
I. Temple,
D. Wellesley,
L. Vissers,
J. Juusola,
C. Wright,
H. Brunner,
H. Firth,
D. FitzPatrick,
J. Barrett,
M. Hurles,
C. Gilissen,
K. Retterer
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8 |
2020 |
8
🐜
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Genetically similar isolates of Klebsiella pneumoniae serotype K1 causing liver abscesses in three continents.
J. Turton,
Hilary Englender,
S. N. Gabriel,
Sarah E Turton,
M. Kaufmann,
T. Pitt
|
7 |
2007 |
7
🐬
|
|
🐜
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The contribution of X-linked coding variation to severe developmental disorders
265 auth.
H. Martin,
E. Gardner,
K. Samocha,
J. Kaplanis,
N. Akawi,
A. Sifrim,
R. Y. Eberhardt,
A. L. T. Tavares,
M. Neville,
Mari E. K. Niemi,
G. Gallone,
J. McRae,
Silvia Borras,
C. Clark,
J. Dean,
...
Z. Miedzybrodzka,
A. Ross,
S. Tennant,
T. Dabir,
D. Donnelly,
M. Humphreys,
A. Magee,
V. Mcconnell,
S. McKee,
S. McNerlan,
P. Morrison,
Gillian Rea,
F. Stewart,
T. Cole,
N. Cooper,
Lisa Cooper-Charles,
H. Cox,
L. Islam,
J. Jarvis,
Rebecca Keelagher,
D. Lim,
D. McMullan,
J. Morton,
S. Naik,
M. O'Driscoll,
K. Ong,
D. Osio,
N. Ragge,
Sarah E Turton,
J. Vogt,
Denise Williams,
S. Bodek,
A. Donaldson,
A. Hills,
K. Low,
R. Newbury-Ecob,
A. Norman,
E. Roberts,
I. Scurr,
S. Smithson,
Madeleine J Tooley,
S. Abbs,
R. Armstrong,
C. Dunn,
S. Holden,
Soo-Mi Park,
J. Paterson,
L. Raymond,
E. Reid,
R. Sandford,
I. Simonic,
M. Tischkowitz,
G. Woods,
L. Bradley,
Joanne Comerford,
A. Green,
S. Lynch,
S. McQuaid,
B. Mullaney,
J. Berg,
D. Goudie,
Eleni Mavrak,
Joanne McLean,
C. Mcwilliam,
E. Reavey,
T. Azam,
Elaine M. Cleary,
Andrew Jackson,
W. Lam,
A. Lampe,
D. Moore,
M. Porteous,
E. Baple,
J. Baptista,
C. Brewer,
B. Castle,
E. Kivuva,
M. Owens,
J. Rankin,
C. Shaw-Smith,
C. Turner,
P. Turnpenny,
C. Tysoe,
T. Bradley,
R. Davidson,
C. Gardiner,
S. Joss,
E. Kinning,
C. Longman,
R. McGowan,
V. Murday,
D. Pilz,
E. Tobias,
M. Whiteford,
N. Williams,
A. Barnicoat,
E. Clement,
F. Faravelli,
J. Hurst,
L. Jenkins,
W. Jones,
V. Kumar,
M. Lees,
S. Loughlin,
Alison M. Male,
D. Morrogh,
E. Rosser,
R. Scott,
L. Wilson,
A. Beleza,
C. Deshpande,
F. Flinter,
M. Holder,
M. Irving,
L. Izatt,
D. Josifova,
S. Mohammed,
Aneta Molenda,
L. Robert,
W. Roworth,
D. Ruddy,
Mina Ryten,
S. Yau,
C. Bennett,
Moira Blyth,
Jennifer Campbell,
A. Coates,
A. Dobbie,
S. Hewitt,
E. Hobson,
Eilidh Jackson,
Rosalyn Jewell,
A. Kraus,
K. Prescott,
E. Sheridan,
J. Thomson,
Kirsty Bradshaw,
A. Dixit,
J. Eason,
R. Haines,
R. Harrison,
Stacey Mutch,
A. Sarkar,
C. Searle,
N. Shannon,
A. Sharif,
M. Suri,
P. Vasudevan,
N. Canham,
I. Ellis,
L. Greenhalgh,
Emma Howard,
V. Stinton,
Andrew Swale,
A. Weber,
S. Banka,
Catherine Breen,
T. Briggs,
E. Burkitt-Wright,
K. Chandler,
J. Clayton-Smith,
D. Donnai,
S. Douzgou,
L. Gaunt,
E. Jones,
B. Kerr,
Claire Langley,
K. Metcalfe,
Audrey Smith,
R. Wright,
D. Bourn,
J. Burn,
R. Fisher,
S. Hellens,
A. Henderson,
T. Montgomery,
M. Splitt,
Volker Straub,
Michael Wright,
S. Zwolinski,
Zoe Allen,
B. Bernhard,
A. Brady,
Claire Brooks,
Louise Busby,
V. Clowes,
N. Ghali,
S. Holder,
Rita Ibitoye,
E. Wakeling,
Edward Blair,
J. Carmichael,
D. Cilliers,
S. Clasper,
Richard J. Gibbons,
U. Kini,
T. Lester,
Andrea M. Nemeth,
J. Poulton,
S. Price,
D. Shears,
H. Stewart,
A. Wilkie,
S. Albaba,
Duncan Baker,
M. Balasubramanian,
Diana S. Johnson,
M. Parker,
O. Quarrell,
Alison G. Stewart,
J. Willoughby,
C. Crosby,
F. Elmslie,
T. Homfray,
Huilin Jin,
N. Lahiri,
S. Mansour,
K. Marks,
M. McEntagart,
A. Saggar,
K. Tatton-Brown,
R. Butler,
Angus Clarke,
S. Corrin,
A. Fry,
Arveen Kamath,
E. McCann,
H. Mugalaasi,
C. Pottinger,
A. Procter,
J. Sampson,
F. Sansbury,
V. Varghese,
D. Baralle,
A. Callaway,
Emma-Jane Cassidy,
Stacey Daniels,
A. Douglas,
N. Foulds,
D. Hunt,
Mira Kharbanda,
K. Lachlan,
C. Mercer,
L. Side,
I. Temple,
D. Wellesley,
C. Wright,
D. FitzPatrick,
H. Firth,
M. Hurles
|
5 |
2020 |
5
🐜
|
|
🐜
|
Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype
16 auth.
J. Radley,
R. O'Sullivan,
Sarah E Turton,
H. Cox,
J. Vogt,
J. Morton,
E. Jones,
S. Smithson,
K. Lachlan,
J. Rankin,
...
J. Clayton-Smith,
J. Willoughby,
F. Elmslie,
F. Sansbury,
N. Cooper,
M. Balasubramanian
|
4 |
2019 |
4
🐜
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