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Smitha Kumble
Researcher at Royal Children's Hospital
Publications - 7
Citations - 189
Smitha Kumble is an academic researcher from Royal Children's Hospital. The author has contributed to research in topics: Medicine & Gene. The author has an hindex of 2, co-authored 5 publications receiving 50 citations.
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Journal ArticleDOI
Feasibility of ultra-rapid exome sequencing in critically ill infants and children with suspected monogenic conditions in the Australian public health care system
Sebastian Lunke,Stefanie Eggers,Meredith Wilson,Chirag Patel,Christopher P. Barnett,Jason Pinner,Sarah A. Sandaradura,Michael Buckley,Emma I. Krzesinski,Michelle G. de Silva,Gemma R Brett,Kirsten Boggs,David Mowat,Edwin P. Kirk,Edwin P. Kirk,Lesley C. Adès,Lauren S. Akesson,David J. Amor,David J. Amor,Samantha Ayres,Anne Baxendale,Sarah Borrie,Alessandra Bray,Natasha J Brown,Cheng Yee Chan,Cheng Yee Chan,Belinda Chong,Corrina Cliffe,Martin B. Delatycki,Matthew S. Edwards,George Elakis,Michael C Fahey,Andrew Fennell,Lindsay F. Fowles,Lyndon Gallacher,Megan Higgins,Megan Higgins,Katherine B. Howell,Katherine B. Howell,Lauren Hunt,Lauren Hunt,Matthew F. Hunter,Kristi J. Jones,Sarah R. B. King,Smitha Kumble,Sarah Lang,Maelle Le Moing,Alan Ma,Dean Phelan,Michael C.J. Quinn,Anna E. Richards,Christopher M. Richmond,Jessica R. Riseley,Jonathan Rodgers,Rani Sachdev,Simon Sadedin,Luregn J. Schlapbach,Janine Smith,Amanda Springer,Natalie B Tan,Tiong Yang Tan,Suzanna L. Temple,Christiane Theda,Christiane Theda,Anand Vasudevan,Susan M. White,Alison Yeung,Ying Zhu,Melissa Martyn,Stephanie Best,Tony Roscioli,Tony Roscioli,John Christodoulou,Zornitza Stark +73 more
TL;DR: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system, however, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.
Journal ArticleDOI
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants
Adam Bournazos,Adam Bournazos,Lisa G. Riley,Lisa G. Riley,Shobhana Bommireddipalli,Lesley C. Adès,Lesley C. Adès,Lauren S. Akesson,Mohammad Al-Shinnag,Mohammad Al-Shinnag,Stephen I. Alexander,Stephen I. Alexander,Alison D Archibald,Shanti Balasubramaniam,Shanti Balasubramaniam,Yemima Berman,Victoria Beshay,Kirsten Boggs,Kirsten Boggs,Jasmina Bojadzieva,Natasha J Brown,Samantha J. Bryen,Samantha J. Bryen,Michael Buckley,Belinda Chong,Mark R. Davis,Ruebena Dawes,Ruebena Dawes,Martin B. Delatycki,Liz Donaldson,Lilian Downie,Lilian Downie,Caitlin Edwards,Matthew S. Edwards,Amanda Engel,Lisa Ewans,Lisa Ewans,Fathimath Faiz,Andrew Fennell,Michael Field,Mary-Louise Freckmann,Lyndon Gallacher,Russell Gear,Himanshu Goel,Shuxiang Goh,Linda Goodwin,Bernadette C. Hanna,James Harraway,Megan Higgins,Gladys Ho,Gladys Ho,Bruce Hopper,Ari E. Horton,Matthew F. Hunter,Aamira Huq,Aamira Huq,Sarah Josephi-Taylor,Sarah Josephi-Taylor,Himanshu Joshi,Edwin P. Kirk,Edwin P. Kirk,Emma Krzesinski,Kishore R. Kumar,Kishore R. Kumar,Frances A. Lemckert,Frances A. Lemckert,Richard J. Leventer,Richard J. Leventer,Suzanna E. Lindsey-Temple,Suzanna E. Lindsey-Temple,Sebastian Lunke,Alan Ma,Alan Ma,Steven Macaskill,Amali Mallawaarachchi,Amali Mallawaarachchi,Melanie Marty,Justine E. Marum,Hugh J. McCarthy,Hugh J. McCarthy,Manoj P. Menezes,Manoj P. Menezes,A. McLean,Di Milnes,Shekeeb S. Mohammad,Shekeeb S. Mohammad,David Mowat,David Mowat,Aram Niaz,Elizabeth E. Palmer,Elizabeth E. Palmer,Chirag Patel,Shilpan G. Patel,Dean Phelan,Jason Pinner,Jason Pinner,Sulekha Rajagopalan,Matthew Regan,Jonathan Rodgers,Miriam Rodrigues,Richard Roxburgh,Rani Sachdev,Tony Roscioli,Tony Roscioli,Tony Roscioli,Ruvishani Samarasekera,Sarah A. Sandaradura,Sarah A. Sandaradura,Elena Savva,Tim Schindler,Tim Schindler,Margit Shah,Ingrid B. Sinnerbrink,Ingrid B. Sinnerbrink,Janine Smith,Janine Smith,Richard J.H. Smith,Amanda Springer,Zornitza Stark,Samuel P. Strom,Carolyn M. Sue,Kenneth Tan,Kenneth Tan,Tiong Yang Tan,Esther M Tantsis,Esther M Tantsis,Michel Tchan,Michel Tchan,Bryony A. Thompson,Bryony A. Thompson,Alison H. Trainer,Alison H. Trainer,Karin van Spaendonck-Zwarts,Rebecca Walsh,Linda Warwick,Stephanie White,Susan M. White,Mark Williams,Meredith Wilson,Meredith Wilson,Wui Kwan Wong,Wui Kwan Wong,Dale Wright,Dale Wright,Patrick Yap,Alison Yeung,Helen Young,Kristi J. Jones,Kristi J. Jones,Bruce Bennetts,Bruce Bennetts,Sandra T. Cooper,Sandra T. Cooper,Sandra T. Cooper,Ghusoon Abdulrasool,Ghamdan Al Eryani,Peer Arts,Richard D. Bagnall,Naomi L. Baker,Christopher Barnett,Sarah Beecroft,Marina Berbic,Michael Black,Jim Blackburn,Piers Blombery,Susan Branford,Jimmy Breen,Leslie Burnett,Daffodil Canson,Pak Cheong,Edward Chew,John Christodoulou,Seo-Kyung Chung,Michael J. Clark,Corrina Cliffe,Melissa Cole,Felicity Collins,Alison G. Compton,Antony Cooper,Mark Corbett,Mark Cowley,Tracy Dudding,Stefanie Eggers,Eduardo Eyras,Miriam Fanjul Fernandez,Andrew Fellowes,Ron Fleischer,Chiara Folland,Lucy Fox,Clara Gaff,Melanie Galea,Roula Ghaoui,Ilias Gornanitis,Thuong Ha,Rippei Hayashi,Ian Hayes,Alex Henderson,Luke Hesson,Erin Heyer,Michael S. Hildebrand,Michael Hipwell,Cass Hoskins,Matilda Jackson,Paul A. James,Justin Jong-Leong Wong,Karin Kassahn,Peter Kaub,Lucy Kevin,Smitha Kumble,Sarah Kummerfeld,Nigel G. Laing,Chiyan Lau,Eric Lee,Sarah Leighton,Ben Lundie,Chelsea Mayoh,Julie McGaughran,Mary McPhillips,Cliff Meldrum,Edwina Middleton,Kym Mina,Amy Nisselle,Emily C. Oates,Alicia Oshlack,Gayathri Parasivam,Michael T. Parsons,Michael Quinn,John Rasko,Gina Ravenscroft,Anja Ravine,Krista Recsei,Jacqueline Rehn,Stephen P. Robertson,Anne Ronan,Georgina Ryland,Simon Sadedin,Andreas Schreiber,Hamish Scott,Rodney J. Scott,Christopher Semsarian,Cas Simons,Emma S. Singer,Renee Smyth,Amanda B. Spurdle,Patricia Sullivan,Samantha Sundercombe,David R. Thorburn,John Toubia,Ronald Trent,Emma Tudini,Irina Voneague,Leigh B. Waddell,Logan Walker,Mathew Wallis,Nick Warnock,Robert Weatheritt,Deborah White,Ingrid Winship,Lisa Worgan,Kathy Wu,Andrew Ziolowski +260 more
TL;DR: In this paper, the authors devise standardized practices for polymerase chain reaction (PCR)-based RNA diagnostics using clinically accessible specimens (blood, fibroblasts, urothelia, biopsy).
Journal ArticleDOI
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Alison Yeung,Natalie B Tan,Tiong Yang Tan,Zornitza Stark,Natasha J Brown,Matthew F. Hunter,Martin B. Delatycki,Chloe A Stutterd,Ravi Savarirayan,George McGillivray,Rachel Stapleton,Smitha Kumble,Lilian Downie,Matthew Regan,Sebastian Lunke,Belinda Chong,Dean Phelan,Gemma R Brett,Anna Jarmolowicz,Yael Prawer,Giulia M Valente,Yana Smagarinsky,Melissa Martyn,Callum McEwan,Ilias Goranitis,Clara Gaff,Susan M. White +26 more
TL;DR: GS in complex pediatric patients saves significant costs and doubles the diagnostic yield of traditional approaches, compared with traditional investigations.
Journal ArticleDOI
Neonatal Bartter syndrome diagnosed by rapid genomics following low risk pre‐conception carrier screening
TL;DR: The genomic journey of a couple who underwent pre‐conception carrier screening and following a low‐risk result, delivered a baby boy who was diagnosed with Type 1 Bartter syndrome is presented and the essential role genetic counselling played in their journey is highlighted.
Journal ArticleDOI
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome
Andrew Fennell,Anne Baxter,Samuel F. Berkovic,Carolyn Ellaway,Caitlin Forwood,Michael S. Hildebrand,Smitha Kumble,Colina McKeown,David Mowat,Gemma Poke,Sulekha Rajagopalan,Brigid M. Regan,Ingrid E. Scheffer,Zornitza Stark,Chloe A Stutterd,Tiong Yang Tan,Ella J Wilkins,Alison Yeung,Matthew F. Hunter +18 more
TL;DR: The authors further refine the known frequencies of features associated with Verheij syndrome by combining these detailed phenotypic data with that of previously reported patients (n = 46), further delineating the broad pleiotropy and mutational spectrum of PUF60 pathogenic variants.