|
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Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis
35 auth.
Lisa J Ewans,
A. Minoche,
Deborah Schofield,
R. Shrestha,
C. Puttick,
Ying Zhu,
A. Drew,
V. Gayevskiy,
G. Elakis,
Corrina Walsh,
L. Adès,
A. Colley,
C. Ellaway,
Carey-Anne Evans,
M. Freckmann,
...
L. Goodwin,
A. Hackett,
B. Kamien,
E. Kirk,
M. Lipke,
D. Mowat,
E. Palmer,
S. Rajagopalan,
A. Ronan,
R. Sachdev,
W. Stevenson,
A. Turner,
Meredith Wilson,
L. Worgan,
M. Morel-Kopp,
M. Field,
M. Buckley,
M. Cowley,
M. Dinger,
T. Roscioli
|
5 |
2022 |
5
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Germline AGO2 mutations impair RNA interference and human neurological development
76 auth.
D. Lessel,
D. Zeitler,
Margot R. F. Reijnders,
Margot R. F. Reijnders,
Andriy Kazantsev,
Fatemeh Hassani Nia,
Alexander Bartholomäus,
V. Martens,
A. Bruckmann,
Veronika Graus,
A. McConkie-Rosell,
M. McDonald,
B. Lozić,
Ee-Shien Tan,
E. Gerkes,
...
J. Johannsen,
J. Denecke,
A. Telegrafi,
E. Zonneveld-Huijssoon,
H. Lemmink,
B. Cham,
T. Kovačević,
Linda A. Ramsdell,
Kimberly Foss,
Diana Le Duc,
D. Mitter,
S. Syrbe,
A. Merkenschlager,
M. Sinnema,
B. Panis,
J. Lazier,
M. Osmond,
T. Hartley,
J. Mortreux,
T. Busa,
C. Missirian,
P. Prasun,
S. Lüttgen,
I. Mannucci,
Ivana Lessel,
Claudia Schob,
S. Kindler,
J. Pappas,
R. Rabin,
M. Willemsen,
T. Gardeitchik,
Katharina Löhner,
P. Rump,
Kerith-Rae Dias,
Kerith-Rae Dias,
Carey-Anne Evans,
Carey-Anne Evans,
P. I. Andrews,
P. I. Andrews,
T. Roscioli,
T. Roscioli,
H. Brunner,
H. Brunner,
Chieko Chijiwa,
M. Lewis,
R. Jamra,
D. Dyment,
K. Boycott,
Alexander P. A. Stegmann,
Alexander P. A. Stegmann,
C. Kubisch,
Ene-Choo Tan,
G. Mirzaa,
G. Mirzaa,
K. McWalter,
T. Kleefstra,
R. Pfundt,
R. Pfundt,
Z. Ignatova,
G. Meister,
H. Kreienkamp
|
5 |
2020 |
5
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|
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Germline AGO2 mutations impair RNA interference and human neurological development
76 auth.
D. Lessel,
D. Zeitler,
Margot R. F. Reijnders,
Margot R. F. Reijnders,
Andriy Kazantsev,
Fatemeh Hassani Nia,
Alexander Bartholomäus,
V. Martens,
A. Bruckmann,
Veronika Graus,
A. McConkie-Rosell,
M. McDonald,
B. Lozić,
Ee-Shien Tan,
E. Gerkes,
...
J. Johannsen,
J. Denecke,
A. Telegrafi,
E. Zonneveld-Huijssoon,
H. Lemmink,
B. Cham,
T. Kovačević,
Linda A. Ramsdell,
Kimberly Foss,
Diana Le Duc,
D. Mitter,
S. Syrbe,
A. Merkenschlager,
M. Sinnema,
B. Panis,
J. Lazier,
M. Osmond,
T. Hartley,
J. Mortreux,
T. Busa,
C. Missirian,
P. Prasun,
S. Lüttgen,
I. Mannucci,
Ivana Lessel,
Claudia Schob,
S. Kindler,
J. Pappas,
R. Rabin,
M. Willemsen,
T. Gardeitchik,
Katharina Löhner,
P. Rump,
Kerith-Rae Dias,
Kerith-Rae Dias,
Carey-Anne Evans,
Carey-Anne Evans,
P. I. Andrews,
P. I. Andrews,
T. Roscioli,
T. Roscioli,
H. Brunner,
H. Brunner,
Chieko Chijiwa,
M. Lewis,
R. Jamra,
D. Dyment,
K. Boycott,
Alexander P. A. Stegmann,
Alexander P. A. Stegmann,
C. Kubisch,
Ene-Choo Tan,
G. Mirzaa,
G. Mirzaa,
K. McWalter,
T. Kleefstra,
R. Pfundt,
R. Pfundt,
Z. Ignatova,
G. Meister,
H. Kreienkamp
|
5 |
2020 |
5
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|
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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
119 auth.
Yuyang Chen,
R. Dawes,
Hyung Chul Kim,
A. Ljungdahl,
S. Stenton,
Susan Walker,
Jenny Lord,
G. Lemire,
Alexandra C Martin-Geary,
Vijay S Ganesh,
Jialan Ma,
J. Ellingford,
E. Delage,
Elston N. D’Souza,
Shan Dong,
...
David R Adams,
Kirsten Allan,
Madhura Bakshi,
Erin E Baldwin,
S. Berger,
Jonathan A Bernstein,
Ishita Bhatnagar,
E. Blair,
Natasha J Brown,
Lindsay C Burrage,
Kimberly Chapman,
David J Coman,
A. Compton,
C. Cunningham,
Precilla D’Souza,
P. Danecek,
Emmanuèle C. Délot,
Kerith-Rae Dias,
Ellen R Elias,
F. Elmslie,
Carey-Anne Evans,
Lisa J Ewans,
Kimberly M Ezell,
Jamie L Fraser,
L. Gallacher,
C. Genetti,
A. Goriely,
Christina L Grant,
Tobias B Haack,
Jenny Higgs,
A. Hinch,
M. Hurles,
Alma Kuechler,
Katherine L Lachlan,
S. Lalani,
F. Lecoquierre,
E. Leitão,
A. L. Fevre,
R. Leventer,
J. Liebelt,
S. Lindsay,
Paul J Lockhart,
Alan S Ma,
Ellen F. Macnamara,
Sahar Mansour,
Taylor M Maurer,
Hector R Mendez,
Kay Metcalfe,
Stephen B. Montgomery,
M. Moosajee,
M. Nassogne,
Serena Neumann,
Michael O'Donoghue,
Melanie O'Leary,
E. Palmer,
N. Pattani,
John Phillips,
Georgia Pitsava,
Ryan Pysar,
Heidi L. Rehm,
Chloe M Reuter,
N. Revencu,
A. Riess,
Rocio Rius,
Lance Rodan,
T. Roscioli,
Jill A. Rosenfeld,
R. Sachdev,
C. Shaw-Smith,
Cas Simons,
S. Sisodiya,
Penny Snell,
Laura St Clair,
Zornitza Stark,
Helen Stewart,
T. Tan,
Natalie B. Tan,
Suzanna E L Temple,
D. Thorburn,
C. Tifft,
E. Uebergang,
G. VanNoy,
Pradeep Vasudevan,
Eric Vilain,
D. Viskochil,
L. Wedd,
M. Wheeler,
Susan M. White,
Monica Wojcik,
Lynne A Wolfe,
Zoe Wolfenson,
Caroline F Wright,
Changrui Xiao,
David Zocche,
J. L. Rubenstein,
Eirene Markenscoff-Papadimitriou,
S. Fica,
D. Baralle,
C. Depienne,
D. MacArthur,
Joanna M M Howson,
Stephan J. Sanders,
A. O’Donnell-Luria,
N. Whiffin
|
4 |
2024 |
4
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|
|
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Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
104 auth.
S. Stephenson,
Gregory Costain,
Laura E R Blok,
Michael Silk,
Thanh-Binh Nguyen,
Xiaomin Dong,
Dana E. Alhuzaimi,
J. Dowling,
S. Walker,
K. Amburgey,
R. Hayeems,
Lance H Rodan,
M. Schwartz,
J. Picker,
S. Lynch,
...
Aditi Gupta,
Kristen J. Rasmussen,
L. Schimmenti,
E. Klee,
Z. Niu,
Katherine E. Agre,
Ilana Chilton,
Wendy K. Chung,
Anya Revah-Politi,
P. Au,
C. Griffith,
Melissa Racobaldo,
A. Raas‐Rothschild,
B. Ben Zeev,
O. Barel,
S. Moutton,
F. Morice-Picard,
V. Carmignac,
Jenny Cornaton,
N. Marle,
O. Devinsky,
C. Stimach,
S. B. Wechsler,
B. Hainline,
Katherine Sapp,
M. Willems,
A. Bruel,
Kerith-Rae Dias,
Carey-Anne Evans,
T. Roscioli,
R. Sachdev,
S. E. Temple,
Ying Zhu,
Joshua Baker,
I. Scheffer,
Fiona Gardiner,
Amy L. Schneider,
Alison M. Muir,
H. Mefford,
Amy Crunk,
E. Heise,
F. Millan,
K. Monaghan,
Richard A. Person,
Lindsay E. Rhodes,
Sarah Richards,
I. Wentzensen,
B. Cogné,
B. Isidor,
M. Nizon,
M. Vincent,
T. Besnard,
A. Piton,
C. Marcelis,
Kohji Kato,
Norihisa Koyama,
T. Ogi,
E. Goh,
C. Richmond,
D. Amor,
Jessica O. Boyce,
Angela T. Morgan,
M. Hildebrand,
Antony Kaspi,
M. Bahlo,
Rún Friðriksdóttir,
Hildigunnur Katrínardóttir,
P. Sulem,
K. Stefánsson,
Hans T. Björnsson,
S. Mandelstam,
M. Morleo,
M. Mariani,
Marcello Scala,
A. Accogli,
A. Torella,
V. Capra,
M. Wallis,
S. Jansen,
Quinten Weisfisz,
H. D. de Haan,
S. Sadedin,
S. C. Lim,
S. White,
D. Ascher,
A. Schenck,
P. Lockhart,
J. Christodoulou,
T. Tan
|
4 |
2022 |
4
🐜
|
|
🐜
|
Impacts of genomics on the health and social costs of intellectual disability
7 auth.
B. Doble,
D. Schofield,
Carey-Anne Evans,
T. Groza,
J. Mattick,
M. Field,
...
T. Roscioli
|
3 |
2020 |
3
🐜
|
|
🐜
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
97 auth.
Yuyang Chen,
R. Dawes,
Hyung Chul Kim,
S. Stenton,
Susan Walker,
A. Ljungdahl,
Jenny Lord,
Vijay S Ganesh,
Jialan Ma,
Alexandra C Martin-Geary,
G. Lemire,
Elston N. D’Souza,
Shan Dong,
J. Ellingford,
David R Adams,
...
Kirsten Allan,
Madhura Bakshi,
Erin E Baldwin,
S. Berger,
Jonathan A Bernstein,
Natasha J Brown,
Lindsay C Burrage,
Kimberly Chapman,
A. Compton,
C. Cunningham,
Precilla D’Souza,
Emmanuèle C. Délot,
Kerith-Rae Dias,
Ellen R Elias,
Carey-Anne Evans,
Lisa J Ewans,
Kimberly M Ezell,
Jamie L Fraser,
L. Gallacher,
C. Genetti,
Christina L Grant,
Tobias B Haack,
Alma Kuechler,
S. Lalani,
E. Leitão,
A. L. Fevre,
R. Leventer,
J. Liebelt,
Paul J. Lockhart,
Alan S Ma,
Ellen F. Macnamara,
Taylor M Maurer,
Hector R Mendez,
Stephen B. Montgomery,
M. Nassogne,
Serena Neumann,
Melanie O'Leary,
Elizabeth E. Palmer,
John Phillips,
Georgia Pitsava,
Ryan Pysar,
Heidi L. Rehm,
Chloe M Reuter,
N. Revencu,
A. Riess,
Rocio Rius,
Lance Rodan,
T. Roscioli,
Jill A. Rosenfeld,
R. Sachdev,
Cas Simons,
S. Sisodiya,
Penny Snell,
Laura St Clair,
Zornitza Stark,
Yang Tan,
Natalie B. Tan,
Suzanna E L Temple,
David R. Thorburn,
Cynthia J Tifft,
E. Uebergang,
G. VanNoy,
E. Vilain,
D. Viskochil,
L. Wedd,
M. Wheeler,
Susan M. White,
Monica Wojcik,
Lynne A Wolfe,
Zoe Wolfenson,
Changrui Xiao,
David Zocche,
J. L. Rubenstein,
Eirene Markenscoff-Papadimitriou,
S. Fica,
D. Baralle,
C. Depienne,
D. MacArthur,
Joanna M M Howson,
Stephan J Sanders,
A. O’Donnell-Luria,
N. Whiffin
|
3 |
2024 |
3
🐜
|
