|
🐜
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Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders
23 auth.
Lisa J Ewans,
D. Schofield,
Rupendra T. Shrestha,
Ying Zhu,
V. Gayevskiy,
Kevin Ying,
Corrina Walsh,
Eric Lee,
E. Kirk,
A. Colley,
...
C. Ellaway,
A. Turner,
D. Mowat,
L. Worgan,
M. Freckmann,
M. Lipke,
R. Sachdev,
David Miller,
M. Field,
M. Dinger,
M. Buckley,
M. Cowley,
T. Roscioli
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7 |
2018 |
7
🐜
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|
🐜
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Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
66 auth.
S. Lunke,
Stefanie Eggers,
Meredith Wilson,
C. Patel,
C. Barnett,
J. Pinner,
S. Sandaradura,
M. Buckley,
Emma I. Krzesinski,
Michelle G. de Silva,
Gemma R. Brett,
Kirsten Boggs,
D. Mowat,
E. Kirk,
L. Adès,
...
Lauren S. Akesson,
D. Amor,
S. Ayres,
A. Baxendale,
S. Borrie,
A. Bray,
N. Brown,
C. Chan,
B. Chong,
C. Cliffe,
M. Delatycki,
M. Edwards,
G. Elakis,
M. Fahey,
A. Fennell,
L. Fowles,
L. Gallacher,
Megan E. Higgins,
K. Howell,
L. Hunt,
M. Hunter,
K. Jones,
Sarah King,
Smitha Kumble,
Sarah Lang,
Maelle Le Moing,
A. Ma,
D. Phelan,
M. Quinn,
A. Richards,
C. Richmond,
J. Riseley,
Jonathan Rodgers,
R. Sachdev,
S. Sadedin,
L. Schlapbach,
Janine M. Smith,
A. Springer,
Natalie B Tan,
T. Tan,
S. E. Temple,
C. Theda,
Anand Vasudevan,
S. White,
A. Yeung,
Ying Zhu,
M. Martyn,
S. Best,
T. Roscioli,
J. Christodoulou,
Zornitza Stark
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7 |
2020 |
7
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|
🐜
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A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures
41 auth.
V. Gennarino,
E. Palmer,
Laura M McDonell,
Li Wang,
Carolyn J. Adamski,
Amanda M Koire,
Lauren See,
Chun-An Chen,
C. Schaaf,
J. Rosenfeld,
J. Panzer,
U. Moog,
Shuang Hao,
A. Bye,
E. Kirk,
...
P. Stankiewicz,
Amy M. Breman,
A. McBride,
T. Kandula,
Holly A. Dubbs,
R. Macintosh,
M. Cardamone,
Ying Zhu,
Kevin Ying,
Kerith-Rae Dias,
M. Cho,
Lindsay B. Henderson,
B. Baskin,
Paula Morris,
Jiang Tao,
M. Cowley,
M. Dinger,
T. Roscioli,
O. Caluseriu,
O. Suchowersky,
R. Sachdev,
O. Lichtarge,
Jianrong Tang,
K. Boycott,
J. Holder,
H. Zoghbi
|
6 |
2018 |
6
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|
🐜
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Phenotypic insights into ADCY5‐associated disease
25 auth.
F. Chang,
A. Westenberger,
R. Dale,
Martin Smith,
H. Pall,
B. Pérez-Dueñas,
P. Grattan-Smith,
R. Ouvrier,
N. Mahant,
B. Hanna,
M. Hunter,
J. Lawson,
Christoph Max,
R. Sachdev,
E. Meyer,
...
D. Crimmins,
Donald E. Pryor,
J. Morris,
A. Münchau,
D. Grozeva,
K. Carss,
L. Raymond,
M. Kurian,
C. Klein,
V. Fung
|
6 |
2016 |
6
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🐢
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Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness
26 auth.
E. Palmer,
D. Schofield,
Rupendra T. Shrestha,
T. Kandula,
R. Macintosh,
J. Lawson,
I. Andrews,
H. Sampaio,
Alexandra M. Johnson,
M. Farrar,
M. Cardamone,
D. Mowat,
G. Elakis,
William Lo,
Ying Zhu,
...
Kevin Ying,
Paula Morris,
Jiang Tao,
Kerith-Rae Dias,
M. Buckley,
M. Dinger,
M. Cowley,
T. Roscioli,
E. Kirk,
A. Bye,
R. Sachdev
|
6 |
2018 |
6
🐢
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|
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Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR).
8 auth.
L. McQuade,
John Christodoulou,
John Christodoulou,
M. Budarf,
R. Sachdev,
Meredith Wilson,
...
Beverly S Emanuel,
Alison Colley
|
6 |
1999 |
6
🐜
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|
🐜
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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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|
🐜
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Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies
29 auth.
E. Palmer,
R. Sachdev,
R. Macintosh,
Grad Dip Genetic Counselling,
U. S. Melo,
S. Mundlos,
S. Righetti,
T. Kandula,
A. Minoche,
C. Puttick,
V. Gayevskiy,
L. Hesson,
S. Idrisoglu,
C. Shoubridge,
M. Thai,
...
R. Davis,
A. Drew,
H. Sampaio,
P. Andrews,
J. Lawson,
M. Cardamone,
D. Mowat,
A. Colley,
S. Kummerfeld,
M. Dinger,
M. Cowley,
T. Roscioli,
A. Bye,
E. Kirk
|
5 |
2021 |
5
🐜
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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,
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
🐜
|
