|
🐜
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Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
216 auth.
A. Bournazos,
L. Riley,
Shobhana Bommireddipalli,
L. Adès,
Lauren S. Akesson,
M. Al-shinnag,
Stephen I. Alexander,
A. Archibald,
S. Balasubramaniam,
Y. Berman,
V. Beshay,
Kirsten Boggs,
J. Bojadzieva,
N. Brown,
S. Bryen,
...
M. Buckley,
B. Chong,
M. Davis,
R. Dawes,
M. Delatycki,
Liz Donaldson,
Lilian Downie,
Caitlin Edwards,
M. Edwards,
Amanda Engel,
Lisa J Ewans,
Fathimath Faiz,
A. Fennell,
M. Field,
M. Freckmann,
L. Gallacher,
Russell Gear,
H. Goel,
Shuxiang Goh,
L. Goodwin,
B. Hanna,
J. Harraway,
Megan E. Higgins,
G. Ho,
Bruce Hopper,
A. Horton,
M. Hunter,
A. Huq,
S. Josephi-Taylor,
H. Joshi,
E. Kirk,
Emma I. Krzesinski,
K. Kumar,
F. Lemckert,
R. Leventer,
S. Lindsey-Temple,
S. Lunke,
A. Ma,
S. Macaskill,
A. Mallawaarachchi,
M. Marty,
J. Marum,
H. McCarthy,
M. Menezes,
Alison McLean,
D. Milnes,
S. Mohammad,
D. Mowat,
A. Niaz,
E. Palmer,
C. Patel,
Shilpan G. Patel,
D. Phelan,
J. Pinner,
S. Rajagopalan,
M. Regan,
Jonathan Rodgers,
Miriam J. Rodrigues,
R. Roxburgh,
R. Sachdev,
T. Roscioli,
Ruvishani Samarasekera,
S. Sandaradura,
E. Savva,
Timo Schindler,
Margi Shah,
I. Sinnerbrink,
Janine M. Smith,
Richard Smith,
A. Springer,
Zornitza Stark,
Samuel P. Strom,
C. Sue,
Kenneth Tan,
T. Tan,
E. Tantsis,
M. Tchan,
B. Thompson,
A. Trainer,
Karin van Spaendonck-Zwarts,
Rebecca C. Walsh,
L. Warwick,
Stephanie L. White,
S. White,
Mark Williams,
Meredith Wilson,
W. Wong,
D. Wright,
Patrick Yap,
A. Yeung,
H. Young,
K. Jones,
B. Bennetts,
Sandra T. Cooper,
Ghusoon Abdulrasool,
Ghamdan Al Eryani,
P. Arts,
R. Bagnall,
Naomi L. Baker,
Christopher Barnett,
S. Beecroft,
M. Berbic,
Michaela Black,
J. Blackburn,
P. Blombery,
S. Branford,
J. Breen,
L. Burnett,
D. Canson,
P. Cheong,
E. Chew,
J. Christodoulou,
S. Chung,
Mike Clark,
C. Cliffe,
Melissa K Cole,
F. Collins,
A. Compton,
A. Cooper,
M. Corbett,
M. Cowley,
T. Dudding,
Stefanie Eggers,
E. Eyras,
Miriam Fanjul Fernández,
A. Fellowes,
R. Fleischer,
C. Folland,
L. Fox,
C. Gaff,
Melanie A. Galea,
R. Ghaoui,
Ilias Gornanitis,
Thuong T. Ha,
R. Hayashi,
I. Hayes,
A. Henderson,
L. Hesson,
Erin E. Heyer,
Michael Hildebrand,
M. Hipwell,
C. Hoskins,
Matilda R Jackson,
Paul James,
J. Wong,
K. Kassahn,
P. Kaub,
L. Kevin,
Smitha Kumble,
S. Kummerfeld,
N. Laing,
C. Lau,
Eric Lee,
Sarah Leighton,
Ben Lundie,
Chelsea Mayoh,
J. McGaughran,
M. McPhillips,
C. Meldrum,
E. Middleton,
K. Mina,
A. Nisselle,
E. Oates,
A. Oshlack,
G. Parasivam,
M. Parsons,
M. Quinn,
J. Rasko,
G. Ravenscroft,
A. Ravine,
Krista Recsei,
J. Rehn,
S. Robertson,
A. Ronan,
G. Ryland,
S. Sadedin,
A. Schreiber,
Hamish Scott,
R. Scott,
C. Semsarian,
Cas Simons,
E. Singer,
Renée Smyth,
A. Spurdle,
Patricia Sullivan,
S. Sundercombe,
D. Thorburn,
J. Toubia,
R. Trent,
Emma Tudini,
Irina Voneague,
L. Waddell,
L. Walker,
M. Wallis,
N. Warnock,
Robert J. Weatheritt,
D. White,
I. Winship,
L. Worgan,
Kathy Wu,
A. Ziolowski
|
5 |
2021 |
5
🐜
|
|
🐢
|
SpliceVault predicts the precise nature of variant-associated mis-splicing
7 auth.
R. Dawes,
A. Bournazos,
S. Bryen,
Shobhana Bommireddipalli,
Rhett G Marchant,
Himanshu Joshi,
...
Sandra T. Cooper
|
5 |
2023 |
5
🐢
|
|
🐜
|
Genome Sequencing for Diagnosing Rare Diseases.
89 auth.
M. Wojcik,
G. Lemire,
Eva Berger,
Maha S. Zaki,
Mariel Wissmann,
Wathone Win,
Susan M. White,
B. Weisburd,
Dagmar Wieczorek,
Leigh B Waddell,
J. M. Verboon,
G. VanNoy,
Ana Töpf,
T. Tan,
Steffen Syrbe,
...
V. Strehlow,
Volker Straub,
S. Stenton,
Hana R. Snow,
M. Singer-Berk,
Josh Silver,
S. Shril,
Eleanor G. Seaby,
Ronen Schneider,
Vijay G. Sankaran,
Alba Sanchis-Juan,
Kathryn A Russell,
K. Reinson,
Gianina Ravenscroft,
Maximilian Radtke,
Denny Popp,
Tilman Polster,
Konrad Platzer,
Eric A. Pierce,
E. Place,
S. Pajusalu,
Lynn Pais,
Katrin Õunap,
I. Osei-Owusu,
Henry Opperman,
V. Okur,
K. Oja,
Melanie O'Leary,
Emily O’Heir,
Chantal F Morel,
Andreas Merkenschlager,
Rhett G Marchant,
B. Mangilog,
Jill A Madden,
D. MacArthur,
A. Lovgren,
Jordan P Lerner-Ellis,
Jasmine Lin,
Nigel Laing,
Friedhelm Hildebrandt,
J. Hentschel,
E. Groopman,
J. Goodrich,
Joseph G. Gleeson,
R. Ghaoui,
C. Genetti,
J. Gburek-Augustat,
H. Gazda,
Vijay S Ganesh,
M. Ganapathi,
L. Gallacher,
Jack Fu,
Emily Evangelista,
E. England,
S. Donkervoort,
Stephanie P. DiTroia,
Sandra T. Cooper,
Wendy K. Chung,
J. Christodoulou,
Katherine R. Chao,
Liam D. Cato,
K. Bujakowska,
S. Bryen,
Harrison Brand,
Carsten G. Bönnemann,
Alan H. Beggs,
Samantha Baxter,
Tobias Bartolomaeus,
Pankaj B. Agrawal,
Michael E. Talkowski,
C. Austin-Tse,
R. Abou Jamra,
Heidi L. Rehm,
A. O’Donnell-Luria
|
5 |
2024 |
5
🐜
|
|
🐜
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Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death
200 auth.
Alicia B. Byrne,
P. Arts,
Thuong T. Ha,
K. Kassahn,
L. Pais,
A. O’Donnell-Luria,
F. Aguet,
H. Arachchi,
C. Austin-Tse,
Larry Babb,
Samantha M. Baxter,
H. Brand,
Jaime Chang,
K. Chao,
Ryan L. Collins,
...
Beryl B. Cummings,
Kayla Delano,
Stephanie P. DiTroia,
E. England,
Emily Evangelista,
S. Everett,
L. Francioli,
Jack M. Fu,
V. Ganesh,
K. Garimella,
L. Gauthier,
J. Goodrich,
Sanna Gudmundsson,
S. Hall,
Yongqing Huang,
Steve Jahl,
Kristen M. Laricchia,
K. Larkin,
M. Lek,
G. Lemire,
Rachel B. Lipson,
A. Lovgren,
D. MacArthur,
B. Mangilog,
Stacy-Ann Mano,
Jamie L. Marshall,
T. Mullen,
K. Nguyen,
Emily O’Heir,
M. O’Leary,
I. Osei-Owusu,
Jorge Perez de Acha Chavez,
E. Pierce-Hoffman,
H. Rehm,
J. Serrano,
M. Singer-Berk,
Hana R. Snow,
M. Solomonson,
Rachel G Son,
A. Sveden,
M. Talkowski,
G. Tiao,
M. Udler,
Z. Valivullah,
E. Valkanas,
G. VanNoy,
Qingbo S. Wang,
N. Watts,
B. Weisburd,
C. Williamson,
Michael W. Wilson,
Lauren Witzgall,
M. Wojcik,
Isaac Wong,
J. Wood,
Shifa Zhang,
Milena Babic,
M. Frank,
Jinghua Feng,
Paul P. S. Wang,
D. Lawrence,
L. Eshraghi,
Luis Arriola,
J. Toubia,
Hung Nguyen,
Disna Abeysuriya,
L. Adès,
David J. Amor,
S. Arbuckle,
Madhura Bakshi,
Bligh D. Berry,
Tiffany F. Boughtwood,
A. Bournazos,
A. Bray,
Fiona Chan,
Y. Chan,
Clara W T Chung,
Jonathan Clark,
Jackie Collett,
A. Colley,
F. Collins,
Sandra T. Cooper,
M. Corbett,
J. Dahlstrom,
P. Dargaville,
J. Davies,
T. Davis,
Jarrad Dearman,
J. Dissanayake,
J. Dobbins,
H. Doyle,
Andrew Dubowsky,
Matt Edwards,
Lisa J Ewans,
M. Fadia,
A. Fennell,
Keri Finlay,
A. French,
K. Friend,
A. Gardner,
J. Gécz,
N. Graf,
E. Haan,
G. Hollingsworth,
A. Horton,
Denise A. Howting,
M. Hunter,
G. Jevon,
B. Kamien,
D. Kennedy,
T. Y. Khong,
M. Krivanek,
Thessa Kroes,
Emma I. Krzesinski,
E. Kwan,
Stephanie Lau,
S. LeBlanc,
J. Liebelt,
S. Lindsey-Temple,
J. Lipsett,
Christine K. C. Loo,
J. Low,
A. Mallawaarachchi,
N. Manton,
Admire Matsika,
Tessa Mattiske,
J. McGaughran,
Lesley Mcgregor,
Namita Mittal,
A. Moghimi,
L. Moore,
H. Albayrak,
J. Ng,
J. Nicholl,
N. Pachter,
John D Papadimitriou,
Renae Parker,
S. Parsons,
C. Patel,
R. Pawlowski,
L. Pérez-Jurado,
J. Pinner,
K. Politis,
C. Poulton,
Theresa Power,
M. Quinn,
S. Rajagopalan,
M. Regan,
Jonathan Rodgers,
S. Rorke,
R. Sachdev,
S. Sallevelt,
S. Sandaradura,
Maryam Shamassi,
Roshan Shamon,
Isabella Sherburn,
J. Slee,
A. Solinas,
E. Sugo,
E. Thompson,
S. Tripathy,
Anand Vasudevan,
M. Vazquez,
K. Verma,
Mthulisi Viki,
M. Wallis,
D. L. Webber,
M. Weber,
K. Whale,
Meredith Wilson,
L. Worgan,
Sui Yu,
G. McGillivray,
J. Pinner,
F. McKenzie,
R. Morrow,
T. Y. Khong,
L. Moore,
J. Liebelt,
A. Schreiber,
Sarah L. King-Smith,
T. Hardy,
Matilda R Jackson,
Christopher Barnett,
H. Scott
|
4 |
2023 |
4
🐜
|
|
🐢
|
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data
R. Dawes,
Himanshu Joshi,
Sandra T. Cooper
|
4 |
2022 |
4
🐢
|
|
🐜
|
A Pathway to Precision Medicine for Aboriginal Australians: A Study Protocol
15 auth.
Yeu-yao Cheng,
Jack S. Nunn,
J. Skinner,
B. Rambaldini,
Tiffany F. Boughtwood,
Tom Calma,
A. Brown,
C. Meldrum,
M. Dinger,
J. Byrne,
...
Debbie Mccowen,
Jayden Potter,
Kerry Faires,
Sandra T. Cooper,
K. Gwynne
|
3 |
2021 |
3
🐜
|
|
🐜
|
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy
85 auth.
A. Töpf,
D. Cox,
I. Zaharieva,
Valeria Di Leo,
J. Sarparanta,
P. Jonson,
Ian M Sealy,
Andrei Smolnikov,
Richard J. White,
A. Vihola,
Marco Savarese,
Munise Merteroglu,
Neha Wali,
Kristen M. Laricchia,
C. Venturini,
...
B. Vroling,
S. Stenton,
Beryl B. Cummings,
Elizabeth Harris,
C. Marini-Bettolo,
J. Díaz-Manera,
Matt Henderson,
R. Barresi,
J. Duff,
E. England,
Jane Patrick,
Sundos Al-Husayni,
V. Biancalana,
Alan H. Beggs,
I. Bodi,
Shobhana Bommireddipalli,
Carsten G. Bönnemann,
A. Cairns,
Mei Chiew,
Kristl G. Claeys,
Sandra T. Cooper,
Mark Davis,
S. Donkervoort,
C. Erasmus,
Mahmoud Fassad,
C. Genetti,
C. Grosmann,
H. Jungbluth,
E. Kamsteeg,
X. Lornage,
W. N. Löscher,
E. Malfatti,
Adnan Y. Manzur,
Pilar Martí,
T. E. Mongini,
N. Muelas,
A. Nishikawa,
A. O’Donnell-Luria,
N. Ogonuki,
G. O'grady,
Emily O’Heir,
S. Paquay,
R. Phadke,
B. Pletcher,
Norma B. Romero,
M. Schouten,
Snehal Shah,
I. Smuts,
Yves Sznajer,
G. Tasca,
Robert W Taylor,
A. Tuite,
Peter van den Bergh,
G. VanNoy,
N. Voermans,
J. Wanschitz,
E. Wraige,
Kimihiko Yoshimura,
Emily C. Oates,
Osamu Nakagawa,
Ichizo Nishino,
Jocelyn Laporte,
J. J. Vílchez,
D. MacArthur,
A. Sarkozy,
Heather J Cordell,
Bjarne Udd,
E. Busch-Nentwich,
F. Muntoni,
Volker Straub
|
2 |
2024 |
2
🐜
|
