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🐜
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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,
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L. Burnett,
D. Canson,
P. Cheong,
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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,
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C. Semsarian,
Cas Simons,
E. Singer,
Renée Smyth,
A. Spurdle,
Patricia Sullivan,
S. Sundercombe,
D. Thorburn,
J. Toubia,
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Irina Voneague,
L. Waddell,
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M. Wallis,
N. Warnock,
Robert J. Weatheritt,
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I. Winship,
L. Worgan,
Kathy Wu,
A. Ziolowski
|
5 |
2021 |
5
🐜
|
|
🐜
|
Oral abstracts
21 auth.
Elizabeth Tracey,
Sanjiv Gupta,
Denise Kaminski,
Peter Troke,
Anthony Proietto,
Ella Thompson,
M. Wong-Brown,
Simone Rowley,
Susan Dooley,
M. Hipwell,
...
S. McInerny,
C. Meldrum,
Lisa Devereux,
D. Mossman,
Alison Trainer,
Briar-Rose Millar,
Gillian Mitchell,
Cate Smith,
Paul James,
Ian Campbell,
Rodney J. Scott
|
4 |
2015 |
4
🐜
|
|
🐜
|
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
69 auth.
Emma Tudini,
J. Andrews,
D. Lawrence,
Sarah L. King-Smith,
Naomi Baker,
Leanne Baxter,
J. Beilby,
B. Bennetts,
V. Beshay,
Michaela Black,
Tiffany F. Boughtwood,
Kristian Brion,
P. Cheong,
Michael Christie,
J. Christodoulou,
...
B. Chong,
K. Cox,
M. Davis,
Lucas Dejong,
M. Dinger,
Kenneth D. Doig,
Evelyn Douglas,
Andrew Dubowsky,
Melissa Ellul,
A. Fellowes,
Katrina Fisk,
Cristina Fortuno,
K. Friend,
Renee L. Gallagher,
Song Gao,
E. Hackett,
J. Hadler,
M. Hipwell,
G. Ho,
G. Hollway,
A. Hooper,
K. Kassahn,
R. Krishnaraj,
C. Lau,
H. Le,
Huei San Leong,
Ben Lundie,
S. Lunke,
Anthony Marty,
M. McPhillips,
Lan T. Nguyen,
K. Nones,
Kristy Palmer,
J. Pearson,
M. Quinn,
L. Rawlings,
S. Sadedin,
Louis Sanchez,
A. Schreiber,
Emanouil Sigalas,
Aygul Simsek,
Julien Soubrier,
Zornitza Stark,
B. Thompson,
J. U.,
C. Vakulin,
A. V. Wells,
C. Wise,
Rick Woods,
A. Ziolkowski,
M. Brion,
H. Scott,
N. Thorne,
A. Spurdle
|
3 |
2022 |
3
🐜
|
|
🐜
|
CD36 polymorphisms and the age of disease onset in patients with pathogenic variants within the mutation cluster region of APC
11 auth.
T. Connor,
M. McPhillips,
M. Hipwell,
A. Ziolkowski,
C. Oldmeadow,
M. Clapham,
...
P. Pockney,
E. Lis,
T. Banasiewicz,
A. Pławski,
R. Scott
|
1 |
2021 |
1
🐜
|
|
🐜
|
cDNA analysis of the BRCA1 unclassified variant c.5194‐12G>A
7 auth.
MW Wong‐Brown,
ML McPhillips,
M. Hipwell,
G. Pecenpetelovska,
Susan Dooley,
C. Meldrum,
...
R. Scott
|
1 |
2013 |
1
🐜
|
|
🐜
|
Meeting abstracts from the Annual Conference on Hereditary Cancers 2015
74 auth.
E. Thompson,
M. Wong-Brown,
Simone M. Rowley,
Susan Dooley,
N. Lil,
M. Hipwell,
S. McInerny,
C. Meldrum,
L. Devereux,
D. Mossman,
A. Trainer,
Briar-Rose Millar,
G. Mitchell,
Cate Smith,
P. James,
...
I. Campbell,
Rodney J. Scott,
K. Klonowska,
A. Jakubowska,
J. Maksimenko,
A. Irmejs,
M. Nakazawa-Miklaševiča,
I. Melbărde-Gorkusa,
G. Trofimovičs,
J. Gardovskis,
E. Miklaševičs,
K. Tęcza,
J. Pamuła-Piłat,
Joanna Łanuszewska,
E. Grzybowska,
E. Miklaševičs,
M. Szwiec,
J. Tomiczek-Szwiec,
M. Gełej,
C. Cybulski,
T. Huzarski,
E. Kilar,
M. Oczko-Wojciechowska,
M. Świerniak,
J. Krajewska,
M. Kowalska,
T. Tyszkiewicz,
A. Pawlaczek,
M. Jarząb,
Monika Kowal,
Dagmara Rusinek,
J. Żebracka‐Gala,
A. Czarniecka,
B. Jarzab,
A. Pławski,
P. Boruń,
J. Szczepinska,
M. Siołek,
B. Kozak‐Klonowska,
Katarzyna Kaczmarek,
M. Muszyńska,
W. Marciniak,
G. Sukiennicki,
M. Lener,
K. Durda,
Katarzyna Jaworska–Bieniek,
T. Gromowski,
T. Huzarski,
T. Byrski,
J. Gronwald,
O. Oszurek,
C. Cybulski,
T. Dębniak,
A. Morawski,
A. Jakubowska,
J. Lubiński,
G. Sukiennicki,
Katarzyna Kaczmarek,
M. Post
|
0 |
2017 |
0
🐜
|
