|
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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
|
7 |
2020 |
7
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.
114 auth.
F. C. Radio,
Kaifang Pang,
A. Ciolfi,
M. Levy,
A. Hernandez-Garcia,
L. Pedace,
F. Pantaleoni,
Zhandong Liu,
E. de Boer,
A. Jackson,
A. Bruselles,
H. McConkey,
E. Stellacci,
S. Lo Cicero,
M. Motta,
...
R. Carrozzo,
M. Dentici,
K. McWalter,
Megha Desai,
K. Monaghan,
A. Telegrafi,
C. Philippe,
A. Vitobello,
M. Au,
Katheryn L. Grand,
P. Sanchez-Lara,
Joanne Baez,
K. Lindstrom,
Peggy Kulch,
Jessica Sebastian,
Suneeta Madan‐Khetarpal,
C. Roadhouse,
J. MacKenzie,
B. Monteleone,
Carol J. Saunders,
July K Jean Cuevas,
L. Cross,
Dihong Zhou,
T. Hartley,
S. Sawyer,
F. Monteiro,
Tania Vertemati Secches,
F. Kok,
Laura E. Schultz-Rogers,
Erica L. Macke,
E. Morava,
E. Klee,
J. Kemppainen,
M. Iascone,
A. Selicorni,
R. Tenconi,
D. Amor,
L. Pais,
L. Gallacher,
P. Turnpenny,
K. Stals,
S. Ellard,
S. Cabet,
G. Lesca,
J. Pascal,
K. Steindl,
S. Ravid,
K. Weiss,
Alison M R Castle,
M. Carter,
Louisa Kalsner,
B. D. de Vries,
B. V. van Bon,
M. Wevers,
R. Pfundt,
A. Stegmann,
B. Kerr,
H. Kingston,
K. Chandler,
Willow Sheehan,
Abdallah F Elias,
D. Shinde,
Meghan C Towne,
N. Robin,
Dana H. Goodloe,
A. Vanderver,
O. Sherbini,
Krista K. Bluske,
R. T. Hagelstrom,
C. Zanus,
F. Faletra,
L. Musante,
E. Kurtz-Nelson,
Rachel K. Earl,
B. Anderlid,
G. Morin,
M. V. van Slegtenhorst,
K. Diderich,
A. Brooks,
J. Gribnau,
R. Boers,
Teresa Robert Finestra,
L. Carter,
A. Rauch,
P. Gasparini,
K. Boycott,
T. S. Barakat,
J. Graham,
L. Faivre,
S. Banka,
Tianyun Wang,
E. Eichler,
M. Priolo,
B. Dallapiccola,
L. Vissers,
B. Sadikovic,
D. Scott,
J. Holder,
M. Tartaglia
|
6 |
2021 |
6
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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
🐜
|
|
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Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates
S. Ayres,
L. Gallacher,
Zornitza Stark,
Gemma R. Brett
|
5 |
2019 |
5
🐬
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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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|
🐜
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Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
21 auth.
Gemma R. Brett,
M. Martyn,
Fiona Lynch,
Michelle G. de Silva,
S. Ayres,
L. Gallacher,
Kirsten Boggs,
A. Baxendale,
Sarah Schenscher,
Sarah L. King-Smith,
...
L. Fowles,
A. Springer,
S. Lunke,
Anand Vasudevan,
Emma I. Krzesinski,
J. Pinner,
S. Sandaradura,
C. Barnett,
C. Patel,
Meredith Wilson,
Zornitza Stark
|
5 |
2020 |
5
🐜
|
|
🐜
|
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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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.
82 auth.
M. Chopra,
M. McEntagart,
J. Clayton-Smith,
K. Platzer,
A. Shukla,
K. Girisha,
A. Kaur,
P. Kaur,
R. Pfundt,
H. Veenstra-Knol,
G. Mancini,
G. Cappuccio,
N. Brunetti‐Pierri,
F. Kortüm,
M. Hempel,
...
J. Denecke,
A. Lehman,
T. Kleefstra,
K. Stuurman,
M. Wilke,
M. Thompson,
E. Bebin,
E. Bijlsma,
M. Hoffer,
C. Peeters-Scholte,
A. Slavotinek,
W. Weiss,
Tiffany Yip,
U. Hodoğlugil,
Amy Whittle,
Janette diMonda,
J. Neira,
Sandra Yang,
Amelia J Kirby,
H. Pinz,
R. Lechner,
F. Sleutels,
I. Helbig,
Sarah E. McKeown,
K. Helbig,
R. Willaert,
J. Juusola,
J. Semotok,
M. Hadonou,
J. Short,
Naomi Yachelevich,
S. Lala,
A. Fernández-Jaén,
Janvier Porta Pelayo,
Chiara Klöckner,
S. Kamphausen,
R. Abou Jamra,
M. Arélin,
A. Innes,
Anni Niskakoski,
Sam Amin,
Maggie Williams,
Julie C. Evans,
S. Smithson,
D. Smedley,
Anna de Burca,
U. Kini,
M. Delatycki,
L. Gallacher,
A. Yeung,
L. Pais,
M. Field,
Ellenore M. Martin,
P. Charles,
T. Courtin,
B. Keren,
M. Iascone,
A. Cereda,
G. Poke,
V. Abadie,
C. Chalouhi,
Padmini Parthasarathy,
B. J. Halliday,
S. Robertson,
S. Lyonnet,
J. Amiel,
C. T. Gordon
|
4 |
2021 |
4
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