Shibalik Misra
University of Sydney
6 Papers
9 Citations
Shibalik Misra is an academic researcher from University of Sydney. The author has contributed to research in topics: Histone methyltransferase & Dystonia. The author has an hindex of 2, co-authored 5 publications. Previous affiliations of Shibalik Misra include Children's Hospital at Westmead.
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Papers
Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer,Keren J. Carss,Keren J. Carss,Julia Rankin,John M.E. Nichols,Detelina Grozeva,Agnel Praveen Joseph,Niccolo E. Mencacci,Apostolos Papandreou,Apostolos Papandreou,Joanne Ng,Joanne Ng,Serena Barral,Adeline Ngoh,Adeline Ngoh,Hilla Ben-Pazi,Michèl A.A.P. Willemsen,David Arkadir,Angela Barnicoat,Hagai Bergman,Sanjay Bhate,Amber Boys,Niklas Darin,Nicola Foulds,Nicholas Gutowski,A. Hills,Henry Houlden,Jane A. Hurst,Zvi Israel,Margaret Kaminska,Patricia Limousin,Daniel E. Lumsden,Shane McKee,Shibalik Misra,Shibalik Misra,Shekeeb S Mohammed,Shekeeb S Mohammed,Vasiliki Nakou,Joost Nicolai,Magnus Nilsson,Hardev Pall,Kathryn J. Peall,Gregory Peters,Prab Prabhakar,Miriam S. Reuter,Patrick Rump,Reeval Segel,Margje Sinnema,Martin Smith,Peter D. Turnpenny,Susan M. White,Dagmar Wieczorek,Dagmar Wieczorek,Sarah Wiethoff,Brian T. Wilson,Gidon Winter,Christopher Wragg,Simon Pope,S Heales,Deborah Morrogh,Deciphering Developmental Disorders Study,Alan Pittman,Lucinda Carr,Belén Pérez-Dueñas,Belén Pérez-Dueñas,Jean-Pierre Lin,André Reis,William A. Gahl,Camilo Toro,Kailash P. Bhatia,Nicholas W. Wood,Erik-Jan Kamsteeg,Wui K. Chong,Paul Gissen,Maya Topf,Russell C. Dale,Russell C. Dale,Jonathan R. Chubb,F Lucy Raymond,Manju A. Kurian,Manju A. Kurian +80 more
TL;DR: Heterozygous variants in the gene KMT2B are reported in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance and characteristic brain magnetic resonance imaging findings, and marked clinical benefit was observed following deep brain stimulation (DBS).
Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Shibalik Misra,Greg B. Peters,Elizabeth H Barnes,Simone L. Ardern-Holmes,Richard Webster,Christopher Troedson,Shekeeb S. Mohammad,Deepak Gill,Manoj P. Menezes,Sachin Gupta,Peter Procopis,Jayne Antony,Manju A. Kurian,Russell C. Dale +13 more
TL;DR: The results support the use of aC GH as a first tier investigation in children with diverse neurologic disorders, although whole-genome sequencing may replace aCGH as the detection method in the future.
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Corrigendum: Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia
Esther Meyer,Keren J. Carss,Julia Rankin,John M.E. Nichols,Detelina Grozeva,Agnel Praveen Joseph,Niccolo E. Mencacci,Apostolos Papandreou,Joanne Ng,Serena Barral,Adeline Ngoh,Hilla Ben-Pazi,Michèl A.A.P. Willemsen,David Arkadir,Angela Barnicoat,Hagai Bergman,Sanjay Bhate,Amber Boys,Niklas Darin,Nicola Foulds,Nicholas Gutowski,A. Hills,Henry Houlden,Jane A. Hurst,Zvi Israel,Margaret Kaminska,Patricia Limousin,Daniel E. Lumsden,Shane McKee,Shibalik Misra,Shekeeb S Mohammed,Vasiliki Nakou,Joost Nicolai,Magnus Nilsson,Hardev Pall,Kathryn J. Peall,Gregory Peters,Prab Prabhakar,Miriam S. Reuter,Patrick Rump,Reeval Segel,Margje Sinnema,Martin Smith,Peter D. Turnpenny,Susan M. White,Dagmar Wieczorek,Sarah Wiethoff,Brian T. Wilson,Gidon Winter,Christopher Wragg,Simon Pope,S Heales,Deborah Morrogh,Deciphering Developmental Disorders Study,Alan Pittman,Lucinda Carr,Belén Pérez-Dueñas,Jean-Pierre Lin,André Reis,William A. Gahl,Camilo Toro,Kailash P. Bhatia,Nicholas W. Wood,Erik-Jan Kamsteeg,Wui K. Chong,Paul Gissen,Maya Topf,Russell C. Dale,Jonathan R. Chubb,F. Lucy Raymond,Manju A. Kurian +70 more
TL;DR: Although consent was obtained, in keeping with their ethical consent framework, the authors allow for withdrawal of consent and are carrying out the wishes of the research subjects under their consent process.
Long-term treatment outcomes in refractory rhinitis medicamentosa managed with nasal surgery.
TL;DR: In this article , the authors assessed the long-term outcomes of nasal surgery in patients with refractory Rhinitis Medicamentosa (RM) and concluded that surgically re-establishing a nasal airway was associated with longterm decongestant cessation and symptom improvement.
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Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia (vol 49, pg 223, 2017)
Esther Meyer,Keren J. Carss,Julia Rankin,Jme Nichols,Detelina Grozeva,Agnel Praveen Joseph,Niccolo E. Mencacci,Apostolos Papandreou,Joanne Ng,Serena Barral,Adeline Ngoh,Hilla Ben-Pazi,Michèl A.A.P. Willemsen,David Arkadir,Angela Barnicoat,Hagai Bergman,Sanjay Bhate,Amber Boys,Niklas Darin,Nicola Foulds,Nicholas Gutowski,A. Hills,Henry Houlden,Jane A. Hurst,Zvi Israel,Margaret Kaminska,Patricia Limousin,Daniel E. Lumsden,Shane McKee,Shibalik Misra,Shekeeb S Mohammed,Nakou,Joost Nicolai,Magnus Nilsson,Hardev Pall,Kathryn J. Peall,Gregory Peters,Prab Prabhakar,Reuter,Patrick Rump,Reeval Segel,Margje Sinnema,Martin Smith,Peter D. Turnpenny,Susan M. White,Dagmar Wieczorek,Sarah Wiethoff,Brian T. Wilson,Gidon Winter,Christopher Wragg,Simon Pope,Sjh Heales,Deborah Morrogh,Alan Pittman,Lucinda Carr,Belén Pérez-Dueñas,J-P Lin,André Reis,William A. Gahl,Camilo Toro,Kailash P. Bhatia,Nicholas W. Wood,E-J Kamsteeg,Wui K. Chong,Paul Gissen,Maya Topf,Russell C. Dale,Chubb,FL Raymond,Manju A. Kurian +69 more
- 01 Jun 2017
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