|
🐜
|
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis.
27 auth.
D. Kelsell,
E. Norgett,
Harriet C Unsworth,
M. Teh,
T. Cullup,
C. Mein,
P. Dopping-Hepenstal,
B. Dale,
G. Tadini,
P. Fleckman,
K. Stephens,
V. Sybert,
S. Mallory,
B. North,
D. Witt,
...
E. Sprecher,
A. Taylor,
A. Ilchyshyn,
C. Kennedy,
H. Goodyear,
C. Moss,
D. Paige,
J. Harper,
B. Young,
I. Leigh,
R. Eady,
E. O’Toole
|
8 |
2005 |
8
🐜
|
|
🦁
|
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
37 auth.
T. Cullup,
A. Kho,
C. Dionisi-Vici,
B. Brandmeier,
Frances Smith,
Z. Urry,
M. Simpson,
S. Yau,
E. Bertini,
V. McClelland,
M. Al‐Owain,
S. Koelker,
C. Koerner,
G. Hoffmann,
F. Wijburg,
...
A. E. Hoedt,
Curtis R Rogers,
D. Manchester,
R. Miyata,
M. Hayashi,
E. Said,
D. Soler,
P. Kroisel,
C. Windpassinger,
F. Filloux,
S. Al-Kaabi,
J. Hertecant,
M. Del Campo,
S. Buk,
I. Bodi,
H. Goebel,
C. Sewry,
S. Abbs,
S. Mohammed,
D. Josifova,
M. Gautel,
H. Jungbluth
|
7 |
2012 |
7
🦁
|
|
🐜
|
RYR1 mutations are a common cause of congenital myopathies with central nuclei
23 auth.
J. Wilmshurst,
S. Lillis,
Haiyan Zhou,
K. Pillay,
H. Henderson,
W. Kress,
C. Müller,
A. Ndondo,
Cloke,
T. Cullup,
...
E. Bertini,
C. Boennemann,
Straub,
R. Quinlivan,
J. Dowling,
S. Al-Sarraj,
S. Treves,
S. Abbs,
A. Manzur,
C. Sewry,
F. Muntoni,
H. Jungbluth,
H. Jungbluth
|
7 |
2010 |
7
🐜
|
|
🐜
|
Pandemic peak SARS-CoV-2 infection and seroconversion rates in London frontline health-care workers
339 auth.
Catherine F Houlihan,
N. Vora,
Thomas Byrne,
D. Lewer,
Gavin Kelly,
J. Heaney,
Sonia Gandhi,
Moira Spyer,
R. Beale,
Peter Cherepanov,
D. Moore,
Richard Gilson,
Steve Gamblin,
G. Kassiotis,
Laura E. McCoy,
...
C. Swanton,
Andrew Hayward,
Eleni Nastouli,
J. Aitken,
Zoe Allen,
R. Ambler,
K. Ambrose,
E. Ashton,
Alida Avola,
Samutheswari Balakrishnan,
Caitlin Barns-Jenkins,
G. Barr,
S. Barrell,
Souradeep Basu,
R. Beale,
C. Beesley,
N. Bhardwaj,
Shahnaz Bibi,
G. Bineva-Todd,
D. Biswas,
M. Blackman,
D. Bonnet,
Faye Bowker,
Malgorzata Broncel,
Claire Brooks,
M. D. Buck,
A. Buckton,
T. Budd,
Alana Burrell,
Louise Busby,
Claudio Bussi,
S. Butterworth,
F. Byrne,
R. Byrne,
S. Caidan,
Joanna Campbell,
Johnathan Canton,
A. Cardoso,
Nick Carter,
L. Carvalho,
R. Carzaniga,
N. Chandler,
Q. Chen,
Peter Cherepanov,
L. Churchward,
Graham Clark,
B. Clayton,
Clementina Cobolli Gigli,
Zena Collins,
S. Cottrell,
M. Crawford,
L. Cubitt,
T. Cullup,
Heledd Davies,
Patrick Davis,
Dara Davison,
A. D'Avola,
V. Dearing,
S. Debaisieux,
M. Diaz-Romero,
Alison Dibbs,
Jessica Diring,
P. Driscoll,
C. Earl,
A. Edwards,
C. Ekin,
D. Evangelopoulos,
Rupert Faraway,
Antony Fearns,
Aaron Ferron,
E. Fidanis,
Daniel Fitz,
James Fleming,
Bruno Frederico,
A. Gaiba,
A. Gait,
Steve Gamblin,
Sonia Gandhi,
Liam Gaul,
Helen M. Golding,
J. Goldman,
Robert L. Goldstone,
Belen Gomez Dominguez,
H. Gong,
P. Grant,
M. Greco,
Mariana Grobler,
Anabel Guedán,
M. Gutierrez,
Fiona Hackett,
Ross Hall,
S. Halldorsson,
Suzanne Harris,
Sugera Hashim,
L. Healy,
J. Heaney,
S. Herbst,
Graeme Hewitt,
T. Higgins,
S. Hindmarsh,
Rajnika Hirani,
Joshua Hope,
Elizabeth T. Horton,
B. Hoskins,
Catherine F Houlihan,
Michael Howell,
Louise Howitt,
J. Hoyle,
Mint R. Htun,
M. Hubank,
Hector Huerga Encabo,
D. Hughes,
Jane Hughes,
A. Huseynova,
Ming-Shih Hwang,
R. Instrell,
D. Jackson,
M. Jamal-Hanjani,
L. Jenkins,
M. Jiang,
Mark Johnson,
L. Jones,
N. Kanu,
G. Kassiotis,
Louise Kiely,
Anastacio King Spert Teixeira,
S. Kirk,
S. Kjaer,
E. Knuepfer,
N. Komarov,
Paul Kotzampaltiris,
Konstantinos Kousis,
T. Krylova,
A. Kucharska,
R. Labrum,
C. Lambe,
Michelle Lappin,
Stacey-Ann Lee,
A. Levett,
L. Levett,
M. Levi,
Hon-Wing Liu,
S. Loughlin,
Wei-Ting Lu,
J. MacRae,
Akshay Madoo,
Julie A. Marczak,
Mimmi Martensson,
Thomas Martinez,
Bishara Marzook,
J. Matthews,
J. M. Matz,
Sam M. McCall,
Laura E. McCoy,
Fiona McKay,
Edel C. McNamara,
C. Minutti,
G. Mistry,
M. Molina-Arcas,
B. Montaner,
Kylie Montgomery,
Catherine Moore,
D. Moore,
A. Moraiti,
Lúcia Moreira-Teixeira,
Joyita Mukherjee,
C. Naceur-Lombardelli,
Eleni Nastouli,
A. Nelson,
J. Nicod,
Luke Nightingale,
S. Nofal,
P. Nurse,
S. Nutan,
Caroline A Oedekoven,
A. O’Garra,
Jean D. O’Leary,
J. Olsen,
Olga O’Neill,
Paula Ordonez Suarez,
N. O'Reilly,
N. Osborne,
Amar Pabari,
A. Pająk,
V. Papayannopoulos,
Namita Patel,
Yogen Patel,
Oana Păun,
N. Peat,
Laura Peces-Barba Castano,
Ana Perez Caballero,
J. Perez-Lloret,
Magali S. Perrault,
Abigail J. Perrin,
R. Poh,
Enzo Z. Poirier,
J. Polke,
M. Pollitt,
Lucia Prieto-Godino,
A. Proust,
Rajvee Shah Punatar,
Clinda Puvirajasinghe,
Christophe J. Queval,
V. Ramachandran,
A. Ramaprasad,
P. Ratcliffe,
Laura Reed,
C. Reis e Sousa,
Kayleigh Richardson,
Sophie Ridewood,
Rowenna Roberts,
A. Rodgers,
Pablo Romero Clavijo,
Annachiara Rosa,
Alice Rossi,
C. Roustan,
A. Rowan,
E. Sahai,
A. Sait,
K. Sala,
T. Sanderson,
P. Santucci,
Fatima Sardar,
Adam Sateriale,
Jill A. Saunders,
Chelsea Sawyer,
Anja C. Schlott,
E. Schweighoffer,
Sandra Segura-Bayona,
J. Shaw,
G. Y. Shin,
M. Silva dos Santos,
Margaux Silvestre,
M. Singer,
Daniel M. Snell,
Ok-Ryul Song,
Moira Spyer,
L. Steel,
A. Strange,
A. Sullivan,
C. Swanton,
Michele S. Y. Tan,
Zoe H. Tautz-Davis,
Effie Taylor,
G. Taylor,
Harriet B. Taylor,
A. Taylor-Beadling,
Fernanda Teixeira Subtil,
Berta Terré Torras,
Patrick Toolan-Kerr,
F. Torelli,
Tea Toteva,
M. Treeck,
H. Trojer,
Ming-Han C. Tsai,
James M. A. Turner,
Melanie Turner,
J. Ule,
Rachel Ulferts,
Sharon P. Vanloo,
S. Veeriah,
Subramanian Venkatesan,
K. Vousden,
A. Wack,
C. Walder,
P. Walker,
Yiran Wang,
S. Ward,
Catharina Wenman,
Luke Wiliams,
M. J. Williams,
W. K. Wong,
Joshua Wright,
Mary Y. Wu,
Lauren Wynne,
Zheng Xiang,
M. Yap,
Julian A Zagalak,
D. Zecchin,
Rachel Zillwood,
R. Matthews,
Abigail Severn,
S. Adam,
L. Enfield,
A. McBride,
K. Gärtner,
Sarah Edwards,
F. Lorencatto,
S. Michie,
E. Manley,
M. Shahmanesh,
Hinal Lukha,
Paulina Prymas,
H. Mcbain,
R. Shortman,
L. Wood,
C. Davies,
Bethany R Williams,
K. Ng,
G. Cornish,
Nikhil Faulkner,
A. Riddell,
P. Hobson,
A. Água-Doce,
K. Bartolović,
Emma Russell,
Lotte Carr,
Emilie Sanchez,
D. Frampton,
Matthew Byott,
Stavroula M. Paraskevopoulou,
E. Crayton,
C. Meyer,
N. Vora,
Triantafylia Gkouleli,
Andrea Stoltenberg,
Veronica Ranieri,
Thomas Byrne,
D. Lewer,
Andrew Hayward,
Richard Gilson,
Gavin Kelly,
Fiona Roberts,
E. Hatipoglu
|
7 |
2020 |
7
🐜
|
|
🐜
|
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
83 auth.
C. Olcese,
M. Patel,
A. Shoemark,
S. Kiviluoto,
M. Legendre,
H. Williams,
C. Vaughan,
Jane D. Hayward,
A. Goldenberg,
Richard D Emes,
M. Munye,
Laura Dyer,
Thomas Cahill,
J. Bevillard,
C. Gehrig,
...
M. Guipponi,
S. Chantot,
P. Duquesnoy,
Lucie Thomas,
L. Jeanson,
B. Copin,
A. Tamalet,
C. Thauvin-Robinet,
J. Papon,
A. Garin,
I. Pin,
Gabriella Vera,
P. Aurora,
Mahmoud R. Fassad,
L. Jenkins,
Christopher Boustred,
T. Cullup,
M. Dixon,
A. Onoufriadis,
A. Bush,
E. Chung,
S. Antonarakis,
M. Loebinger,
R. Wilson,
M. Armengot,
E. Escudier,
C. Hogg,
S. Amselem,
Zhaoxia Sun,
L. Bartoloni,
J. Blouin,
H. Mitchison,
S. Al-Turki,
C. Anderson,
D. Antony,
I. Barroso,
P. Beales,
J. Bentham,
S. Bhattacharya,
K. Carss,
K. Chatterjee,
S. Çırak,
C. Cosgrove,
Daly Allan,
R. Durbin,
David Fitzpatrick,
J. Floyd,
A. Foley,
C. Franklin,
M. Futema,
S. Humphries,
M. Hurles,
Shane A. McCarthy,
Dawn Muddyman,
F. Muntoni,
V. Parker,
F. Payne,
V. Plagnol,
L. Raymond,
D. Savage,
P. Scambler,
M. Schmidts,
R. Semple,
E. Serra,
J. Stalker,
M. van Kogelenberg,
Parthiban Vijayarangakannan,
Klaudia Walter
|
7 |
2017 |
7
🐜
|
|
🐜
|
Congenital myopathies – Clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
14 auth.
L. Maggi,
M. Scoto,
S. Çırak,
S. Robb,
A. Klein,
A. Klein,
S. Lillis,
T. Cullup,
Lucy Feng,
A. Manzur,
...
C. Sewry,
S. Abbs,
H. Jungbluth,
F. Muntoni
|
6 |
2013 |
6
🐜
|
|
🐜
|
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
54 auth.
S. Byrne,
L. Jansen,
J. U-King-im,
A. Siddiqui,
H. Lidov,
I. Bodi,
Luke Smith,
R. Mein,
T. Cullup,
C. Dionisi-Vici,
L. Al-Gazali,
M. Al‐Owain,
Z. Bruwer,
Khalid Al Thihli,
Rana El-Garhy,
...
Kevin M. Flanigan,
Kandamurugu Manickam,
E. Zmuda,
Wesley Banks,
R. Gershoni-baruch,
H. Mandel,
E. Dagan,
A. Raas‐Rothschild,
Hila Barash,
F. Filloux,
D. Creel,
Michael Harris,
A. Hamosh,
S. Kölker,
D. Ebrahimi‐Fakhari,
G. Hoffmann,
D. Manchester,
Philip J. Boyer,
Adnan Y. Manzur,
C. Lourenco,
D. Pilz,
Arveen Kamath,
P. Prabhakar,
Vamshi K. Rao,
R. C. Rogers,
Monique M. Ryan,
Natasha J. Brown,
C. Mclean,
E. Said,
U. Schara,
A. Stein,
C. Sewry,
L. Travan,
F. Wijburg,
M. Zenker,
S. Mohammed,
M. Fanto,
M. Gautel,
H. Jungbluth
|
6 |
2016 |
6
🐜
|
|
🐜
|
Impaired neuromuscular transmission and response to acetylcholinesterase inhibitors in centronuclear myopathies
18 auth.
S. Robb,
C. Sewry,
J. Dowling,
Lucy Feng,
T. Cullup,
S. Lillis,
S. Abbs,
M. Lees,
J. Laporte,
A. Manzur,
...
R. Knight,
K. Mills,
M. Pike,
W. Kress,
D. Beeson,
H. Jungbluth,
M. Pitt,
F. Muntoni
|
6 |
2009 |
6
🐜
|
|
🐜
|
ABCA12 is the major harlequin ichthyosis gene.
25 auth.
Anna Thomas,
T. Cullup,
E. Norgett,
T. Hill,
S. Barton,
B. Dale,
E. Sprecher,
E. Sheridan,
A. Taylor,
R. Wilroy,
C. Delozier,
N. Burrows,
H. Goodyear,
P. Fleckman,
K. Stephens,
...
L. Mehta,
R. Watson,
R. Graham,
R. Wolf,,
A. Slavotinek,
Madelena Martin,
D. Bourn,
C. Mein,
E. O’Toole,
D. Kelsell
|
6 |
2006 |
6
🐜
|
|
🐜
|
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs Inversus.
27 auth.
Mahmoud R. Fassad,
A. Shoemark,
M. Legendre,
R. Hirst,
F. Koll,
P. le Borgne,
Bruno Louis,
F. Daudvohra,
M. Patel,
Lucie Thomas,
M. Dixon,
T. Burgoyne,
Joseph Hayes,
A. Nicholson,
T. Cullup,
...
L. Jenkins,
S. Carr,
P. Aurora,
M. Lemullois,
A. Aubusson-Fleury,
J. Papon,
C. O’Callaghan,
S. Amselem,
C. Hogg,
E. Escudier,
A. Tassin,
H. Mitchison
|
6 |
2018 |
6
🐜
|
