|
🐜
|
The UK10K project identifies rare variants in health and disease
242 auth.
Klaudia Walter,
J. Min,
Jie Huang,
L. Crooks,
Y. Memari,
Shane A. McCarthy,
J. Perry,
Changjiang Xu,
M. Futema,
D. Lawson,
V. Iotchkova,
S. Schiffels,
A. Hendricks,
P. Danecek,
Rui Li,
...
J. Floyd,
L. Wain,
I. Barroso,
S. Humphries,
M. Hurles,
E. Zeggini,
J. Barrett,
V. Plagnol,
J. Brent Richards,
C. Greenwood,
N. Timpson,
R. Durbin,
N. Soranzo,
Sendu Bala,
P. Clapham,
Guy Coates,
Tony Cox,
A. Daly,
Yuanping Du,
S. Edkins,
Peter J. I. Ellis,
Paul Flicek,
Xiaosen Guo,
Xueqin Guo,
Liren Huang,
D. Jackson,
Chris Joyce,
Thomas M. Keane,
Anja Kolb-Kokocinski,
C. Langford,
Yingrui Li,
Jieqin Liang,
Hong Lin,
Ryan Liu,
J. Maslen,
Dawn Muddyman,
M. Quail,
J. Stalker,
Jianping Sun,
Jing Tian,
Guangbiao Wang,
Jun Wang,
Yu Wang,
Kim Wong,
Pingbo Zhang,
E. Birney,
C. Boustred,
Lu Chen,
Gail P. Clement,
M. Cocca,
G. Davey Smith,
I. Day,
A. Day-Williams,
T. Down,
I. Dunham,
David M. Evans,
Tom R. Gaunt,
Matthias Geihs,
D. Hart,
Bryan N. Howie,
T. Hubbard,
P. Hysi,
Y. Jamshidi,
K. Karczewski,
J. Kemp,
G. Lachance,
M. Lek,
Margarida C. Lopes,
D. MacArthur,
J. Marchini,
M. Mangino,
I. Mathieson,
S. Metrustry,
A. Moayyeri,
K. Northstone,
K. Panoutsopoulou,
L. Paternoster,
L. Quaye,
S. Ring,
G. Ritchie,
Hashem A. Shihab,
So-Youn Shin,
K. Small,
M. Soler Artigas,
L. Southam,
T. Spector,
Beate St Pourcain,
G. Surdulescu,
I. Tachmazidou,
M. Tobin,
A. Valdes,
P. Visscher,
K. Ward,
Scott G Wilson,
Jian Yang,
Feng Zhang,
Houfeng Zheng,
R. Anney,
M. Ayub,
D. Blackwood,
P. Bolton,
G. Breen,
D. Collier,
N. Craddock,
S. Curran,
D. Curtis,
L. Gallagher,
Daniel H. Geschwind,
H. Gurling,
P. Holmans,
Irene O. Lee,
J. Lönnqvist,
P. McGuffin,
A. McIntosh,
A. McKechanie,
A. McQuillin,
James A. Morris,
M. O’Donovan,
M. Owen,
A. Palotie,
J. Parr,
T. Paunio,
O. Pietilainen,
K. Rehnström,
Sally Sharp,
D. Skuse,
D. St. Clair,
J. Suvisaari,
J. Walters,
H. Williams,
E. Bochukova,
R. Bounds,
A. Dominiczak,
I. Farooqi,
J. Keogh,
G. Marenne,
Andrew P Morris,
S. O’Rahilly,
D. Porteous,
Blair H. Smith,
E. Wheeler,
Saeed H. Al Turki,
C. Anderson,
D. Antony,
Phil Beales,
J. Bentham,
S. Bhattacharya,
M. Calissano,
K. Carss,
K. Chatterjee,
S. Çırak,
Catherine Cosgrove,
D. FitzPatrick,
A. Reghan Foley,
C. Franklin,
D. Grozeva,
H. Mitchison,
F. Muntoni,
A. Onoufriadis,
V. Parker,
F. Payne,
F. Lucy Raymond,
N. Roberts,
D. Savage,
P. Scambler,
M. Schmidts,
N. Schoenmakers,
R. Semple,
E. Serra,
O. Spasic-Boskovic,
E. Stevens,
M. van Kogelenberg,
Parthiban Vijayarangakannan,
K. Williamson,
Crispian Wilson,
T. Whyte,
A. Ciampi,
K. Oualkacha,
M. Bobrow,
Heather Griffin,
J. Kaye,
Karen L Kennedy,
A. Kent,
C. Smee,
R. Charlton,
R. Ekong,
Farrah Khawaja,
L. Lopes,
N. Migone,
S. Payne,
R. Pollitt,
S. Povey,
C. Ridout,
R. Robinson,
Richard H. Scott,
A. Shaw,
P. Syrris,
Rohan Taylor,
A. Vandersteen,
A. Amuzu,
J. Pablo Casas,
J. Chambers,
G. Dedoussis,
G. Gambaro,
P. Gasparini,
A. Isaacs,
Jon Johnson,
M. Kleber,
J. Kooner,
C. Langenberg,
J. Luan,
G. Malerba,
W. März,
Angela Matchan,
RichardJ. Morris,
B. Nordestgaard,
M. Benn,
Robert A. Scott,
D. Toniolo,
M. Traglia,
A. Tybjaerg-hansen,
C. V. van Duijn,
E. V. van Leeuwen,
A. Varbo,
P. Whincup,
G. Zaza,
Weihua Zhang
|
9 |
2015 |
9
🐜
|
|
🐜
|
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
239 auth.
Jie Huang,
Bryan N. Howie,
Shane A. McCarthy,
Y. Memari,
Klaudia Walter,
J. Min,
P. Danecek,
G. Malerba,
E. Trabetti,
Houfeng Zheng,
Saeed H. Al Turki,
A. Amuzu,
C. Anderson,
R. Anney,
D. Antony,
...
M. Artigas,
Muhammad Ayub,
Sendu Bala,
J. Barrett,
I. Barroso,
Phil Beales,
M. Benn,
J. Bentham,
S. Bhattacharya,
E. Birney,
D. Blackwood,
M. Bobrow,
E. Bochukova,
P. Bolton,
R. Bounds,
C. Boustred,
G. Breen,
M. Calissano,
K. Carss,
J. Pablo Casas,
J. Chambers,
R. Charlton,
Krishna Chatterjee,
Lu Chen,
A. Ciampi,
S. Çırak,
P. Clapham,
Gail P. Clement,
Guy Coates,
M. Cocca,
D. Collier,
Catherine Cosgrove,
Tony Cox,
N. Craddock,
L. Crooks,
S. Curran,
D. Curtis,
A. Daly,
I. Day,
A. Day-Williams,
G. Dedoussis,
T. Down,
Yuanping Du,
C. V. van Duijn,
I. Dunham,
S. Edkins,
R. Ekong,
Peter J. I. Ellis,
David M. Evans,
I. Farooqi,
D. FitzPatrick,
Paul Flicek,
J. Floyd,
A. Foley,
C. Franklin,
M. Futema,
L. Gallagher,
Paolo Gasparini,
Tom R. Gaunt,
Matthias Geihs,
Daniel H. Geschwind,
C. Greenwood,
Heather Griffin,
D. Grozeva,
Xiaosen Guo,
Xueqin Guo,
H. Gurling,
D. Hart,
A. Hendricks,
P. Holmans,
Liren Huang,
T. Hubbard,
S. Humphries,
M. Hurles,
P. Hysi,
V. Iotchkova,
A. Isaacs,
D. Jackson,
Y. Jamshidi,
Jon Johnson,
Chris Joyce,
K. Karczewski,
J. Kaye,
Thomas M. Keane,
J. Kemp,
Karen L Kennedy,
A. Kent,
J. Keogh,
Farrah Khawaja,
M. Kleber,
M. van Kogelenberg,
Anja Kolb-Kokocinski,
J. Kooner,
G. Lachance,
C. Langenberg,
C. Langford,
D. Lawson,
Irene O. Lee,
E. V. van Leeuwen,
M. Lek,
Rui Li,
Yingrui Li,
Jieqin Liang,
Hong Lin,
Ryan Liu,
J. Lönnqvist,
L. Lopes,
Margarida C. Lopes,
J. Luan,
D. MacArthur,
M. Mangino,
G. Marenne,
Winfried März,
J. Maslen,
Angela Matchan,
I. Mathieson,
P. McGuffin,
A. McIntosh,
A. McKechanie,
A. McQuillin,
S. Metrustry,
N. Migone,
H. Mitchison,
A. Moayyeri,
James A. Morris,
RichardJ. Morris,
Dawn Muddyman,
Francesco Muntoni,
B. Nordestgaard,
K. Northstone,
M. O’Donovan,
S. O’Rahilly,
A. Onoufriadis,
K. Oualkacha,
M. Owen,
A. Palotie,
K. Panoutsopoulou,
V. Parker,
J. Parr,
L. Paternoster,
T. Paunio,
F. Payne,
S. Payne,
J. Perry,
O. Pietilainen,
V. Plagnol,
R. Pollitt,
S. Povey,
M. Quail,
L. Quaye,
L. Raymond,
K. Rehnström,
C. Ridout,
S. Ring,
G. Ritchie,
N. Roberts,
R. Robinson,
D. Savage,
P. Scambler,
S. Schiffels,
M. Schmidts,
N. Schoenmakers,
Richard H. Scott,
Robert A. Scott,
R. Semple,
E. Serra,
Sally Sharp,
A. Shaw,
Hashem A. Shihab,
So-Youn Shin,
D. Skuse,
K. Small,
C. Smee,
G. D. Smith,
L. Southam,
O. Spasic-Boskovic,
T. Spector,
D. St. Clair,
Beate St Pourcain,
J. Stalker,
E. Stevens,
Jianping Sun,
G. Surdulescu,
J. Suvisaari,
P. Syrris,
I. Tachmazidou,
Rohan Taylor,
Jinghong Tian,
M. Tobin,
D. Toniolo,
M. Traglia,
A. Tybjaerg-hansen,
A. Valdes,
A. Vandersteen,
A. Varbo,
Parthiban Vijayarangakannan,
P. Visscher,
L. Wain,
J. Walters,
Guangbiao Wang,
Jun Wang,
Yu Wang,
K. Ward,
E. Wheeler,
P. Whincup,
T. Whyte,
H. Williams,
K. Williamson,
Crispian Wilson,
Scott G Wilson,
Kim Wong,
Changjiang Xu,
Jian Yang,
G. Zaza,
E. Zeggini,
Feng Zhang,
Pingbo Zhang,
Weihua Zhang,
G. Gambaro,
J. B. Richards,
R. Durbin,
N. Timpson,
J. Marchini,
N. Soranzo
|
8 |
2015 |
8
🐜
|
|
🐜
|
A mutation in the thyroid hormone receptor alpha gene.
24 auth.
E. Bochukova,
D. Phil,
N. Schoenmakers,
M. Agostini,
E. Schoenmakers,
O. Rajanayagam,
J. Keogh,
E. Henning,
J. Reinemund,
E. Gevers,
...
Margarita Sarri,
K. Downes,
A. Offiah,
A. Albanese,
D. Halsall,
John W. R. Schwabe,
M. Bain,
K. Lindley,
F. Muntoni,
F. Vargha-Khadem,
M. Dattani,
I. Farooqi,
M. Gurnell,
K. Chatterjee
|
8 |
2012 |
8
🐜
|
|
🐜
|
Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans.
48 auth.
E. Schoenmakers,
M. Agostini,
C. Mitchell,
N. Schoenmakers,
L. Papp,
O. Rajanayagam,
R. Padidela,
L. Ceron-Gutierrez,
R. Doffinger,
C. Prevosto,
J. Luan,
Sergio J Montano,
Jun Lu,
M. Castanet,
Nick Clemons,
...
Matthijs P. Groeneveld,
P. Castets,
M. Karbaschi,
S. Aitken,
A. Dixon,
Jane Williams,
I. Campi,
M. Blount,
H. Burton,
F. Muntoni,
D. O’Donovan,
Andrew Dean,
Anne Warren,
C. Brierley,
D. Baguley,
P. Guicheney,
R. Fitzgerald,
A. Coles,
H. Gaston,
Pamela Todd,
A. Holmgren,
K. Khanna,
M. Cooke,
R. Semple,
D. Halsall,
N. Wareham,
J. Schwabe,
L. Grasso,
P. Beck‐Peccoz,
A. Ogunko,
M. Dattani,
M. Gurnell,
K. Chatterjee
|
8 |
2010 |
8
🐜
|
|
🐜
|
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
96 auth.
K. Boldt,
J. van Reeuwijk,
Q. Lu,
K. Koutroumpas,
Thanh-Minh T. Nguyen,
Y. Texier,
S. V. van Beersum,
N. Horn,
J. Willer,
D. Mans,
G. Dougherty,
Ideke J. C. Lamers,
K. Coene,
H. Arts,
M. Betts,
...
T. Beyer,
Emine Bolat,
C. Gloeckner,
K. Haidari,
L. Hetterschijt,
Daniela Iaconis,
D. Jenkins,
Franziska Klose,
B. Knapp,
B. Latour,
S. Letteboer,
C. Marcelis,
D. Mitic,
M. Morleo,
M. Oud,
M. Riemersma,
S. Rix,
P. Terhal,
G. Toedt,
Teunis J. P. van Dam,
E. de Vrieze,
Yasmin Wissinger,
Kaman Wu,
G. Apic,
P. Beales,
O. Blacque,
T. Gibson,
M. Huynen,
N. Katsanis,
H. Kremer,
H. Omran,
E. van Wijk,
U. Wolfrum,
F. Képès,
E. Davis,
B. Franco,
R. Giles,
M. Ueffing,
R. Russell,
R. Roepman,
S. Al-Turki,
Carl Anderson,
D. Antony,
I. Barroso,
J. Bentham,
S. Bhattacharya,
K. Carss,
K. Chatterjee,
S. Çırak,
Catherine Cosgrove,
P. Danecek,
R. Durbin,
David Fitzpatrick,
J. Floyd,
A. Reghan Foley,
C. Franklin,
M. Futema,
S. Humphries,
M. Hurles,
Chris Joyce,
Shane A. McCarthy,
H. Mitchison,
Dawn Muddyman,
Francesco Muntoni,
S. O’Rahilly,
A. Onoufriadis,
F. Payne,
V. Plagnol,
L. Raymond,
D. Savage,
P. Scambler,
M. Schmidts,
N. Schoenmakers,
Robert B. Semple,
E. Serra,
J. Stalker,
M. van Kogelenberg,
Parthiban Vijayarangakannan,
Klaudia Walter,
R. Whittall,
K. Williamson
|
7 |
2016 |
7
🐜
|
|
🐜
|
Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
43 auth.
Yu Sun,
B. Bąk,
N. Schoenmakers,
A. Trotsenburg,
W. Oostdijk,
P. Voshol,
E. Cambridge,
Jacqueline K. White,
P. Tissier,
P. Tissier,
S. N. M. Gharavy,
J. Martínez-Barbera,
W. H. Stokvis-Brantsma,
T. Vulsma,
M. Kempers,
...
M. Kempers,
L. Persani,
I. Campi,
M. Bonomi,
P. Beck‐Peccoz,
Hongdong Zhu,
T. Davis,
A. Hokken-Koelega,
Daria Gorbenko Del Blanco,
J. Rangasami,
C. Ruivenkamp,
J. Laros,
M. Kriek,
S. Kant,
C. Bosch,
N. Biermasz,
N. Appelman‐Dijkstra,
E. Corssmit,
G. Hovens,
A. Pereira,
J. T. Dunnen,
M. Wade,
M. Breuning,
R. Hennekam,
K. Chatterjee,
M. Dattani,
J. Wit,
D. Bernard
|
7 |
2012 |
7
🐜
|
|
🐜
|
2018 European Thyroid Association (ETA) Guidelines on the Diagnosis and Management of Central Hypothyroidism
10 auth.
L. Persani,
G. Brabant,
M. Dattani,
M. Bonomi,
U. Feldt-Rasmussen,
E. Fliers,
...
Annette Gruters,
D. Maiter,
N. Schoenmakers,
A.S. Paul van Trotsenburg
|
7 |
2018 |
7
🐜
|
|
🐜
|
An adult female with resistance to thyroid hormone mediated by defective thyroid hormone receptor α.
17 auth.
C. Moran,
N. Schoenmakers,
M. Agostini,
E. Schoenmakers,
A. Offiah,
A. Kydd,
G. Kahaly,
S. Mohr-Kahaly,
O. Rajanayagam,
G. Lyons,
...
N. Wareham,
D. Halsall,
M. Dattani,
S. Hughes,
M. Gurnell,
Soo-Mi Park,
K. Chatterjee
|
7 |
2013 |
7
🐜
|
|
🐜
|
Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
188 auth.
M. Schmidts,
Yuqing Hou,
Claudio R. Cortés,
D. Mans,
C. Huber,
K. Boldt,
M. Patel,
J. van Reeuwijk,
Jean-Marc Plaza,
S. V. van Beersum,
Z. Yap,
S. Letteboer,
S. P. Taylor,
W. Herridge,
Colin A. Johnson,
...
P. Scambler,
M. Ueffing,
H. Kayserili,
D. Krakow,
S. King,
Saeed Carl Richard Dinu Jennifer Mohammad Jeff Inês Jami Al-Turki Anderson Anney Antony Asimit Ayub Barrett,
S. Al-Turki,
C. Anderson,
R. Anney,
D. Antony,
J. Asimit,
M. Ayub,
J. Barrett,
I. Barroso,
J. Bentham,
S. Bhattacharya,
D. Blackwood,
M. Bobrow,
E. Bochukova,
P. Bolton,
C. Boustred,
G. Breen,
M. Brion,
Andy Brown,
M. Calissano,
K. Carss,
K. Chatterjee,
Lu Chen,
Sebhattin Cirak,
P. Clapham,
Gail P. Clement,
Guy Coates,
D. Collier,
C. Cosgrove,
Tony Cox,
N. Craddock,
L. Crooks,
S. Curran,
A. Daly,
P. Danecek,
G. Smith,
A. Day-Williams,
I. Day,
R. Durbin,
S. Edkins,
P. Ellis,
David M Evans,
I. Farooqi,
G. Fatemifar,
David Fitzpatrick,
Paul Flicek,
J. Floyd,
A. Foley,
C. Franklin,
M. Futema,
L. Gallagher,
Tom R. Gaunt,
D. Geschwind,
C. Greenwood,
D. Grozeva,
Xiaosen Guo,
H. Gurling,
D. Hart,
A. Hendricks,
P. Holmans,
Jie Huang,
S. Humphries,
M. Hurles,
P. Hysi,
D. Jackson,
Y. Jamshidi,
David Jewell,
J. Chris,
J. Kaye,
Thomas M. Keane,
J. Kemp,
Karen L Kennedy,
A. Kent,
Anja Kolb-Kokocinski,
G. Lachance,
C. Langford,
Irene O. Lee,
Rui Li,
Yingrui Li,
L. Ryan,
J. Lönnqvist,
Margarida C. Lopes,
D. MacArthur,
Mangino Massimo,
J. Marchini,
J. Maslen,
Shane A. McCarthy,
P. McGuffin,
A. McIntosh,
A. McKechanie,
A. McQuillin,
Y. Memari,
S. Metrustry,
J. Min,
A. Moayyeri,
James Morris,
Dawn Muddyman,
F. Muntoni,
K. Northstone,
M. O’Donovan,
S. O’Rahilly,
A. Onoufriadis,
K. Oualkacha,
M. Owen,
A. Palotie,
K. Panoutsopoulou,
V. Parker,
J. Parr,
L. Paternoster,
T. Paunio,
F. Payne,
J. Perry,
O. Pietilainen,
V. Plagnol,
M. Quail,
L. Quaye,
L. Raymond,
K. Rehnström,
J. Brent Richards,
S. Ring,
G. Ritchie,
D. Savage,
N. Schoenmakers,
R. Semple,
E. Serra,
Hashem A. Shihab,
So-Youn Shin,
D. Skuse,
K. Small,
C. Smee,
Artigas María Soler,
N. Soranzo,
L. Southam,
T. Spector,
Beate St Pourcain,
D. St. Clair,
J. Stalker,
G. Surdulescu,
J. Suvisaari,
I. Tachmazidou,
Jing Tian,
N. Timpson,
M. Tobin,
A. Valdes,
M. van Kogelenberg,
Parthiban Vijayarangakannan,
L. Wain,
Klaudia Walter,
Jun Wang,
K. Ward,
Ellie Wheeler,
R. Whittall,
H. Williams,
K. Williamson,
Scott G Wilson,
Kim Wong,
T. Whyte,
Xu Changjiang,
E. Zeggini,
Feng Zhang,
Houfeng Zheng,
P. Beales,
L. Al-Gazali,
C. Wicking,
V. Cormier-Daire,
R. Roepman,
H. Mitchison,
G. Witman
|
7 |
2016 |
7
🐜
|
|
🐜
|
Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patients.
16 auth.
C. Moran,
M. Agostini,
W. Visser,
E. Schoenmakers,
N. Schoenmakers,
A. Offiah,
K. Poole,
O. Rajanayagam,
G. Lyons,
D. Halsall,
...
M. Gurnell,
D. Chrysis,
A. Efthymiadou,
C. Buchanan,
S. Aylwin,
K. Chatterjee
|
6 |
2014 |
6
🐜
|
|
🦁
|
Recent advances in central congenital hypothyroidism
N. Schoenmakers,
K. Alatzoglou,
K. Chatterjee,
M. Dattani
|
6 |
2015 |
6
🦁
|
