Publications by authors named "Padma Sivadorai"

12Publications

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Authors:
Gina Ravenscroft Joshua S Clayton Fathimath Faiz Padma Sivadorai Di Milnes Rob Cincotta Phillip Moon Ben Kamien Matthew Edwards Martin Delatycki Phillipa J Lamont Sophelia Hs Chan Alison Colley Alan Ma Felicity Collins Lucinda Hennington Teresa Zhao George McGillivray Sondhya Ghedia Katherine Chao Anne O'Donnell-Luria Nigel G Laing Mark R Davis

J Med Genet 2020 Oct 15. Epub 2020 Oct 15.

PathWest Diagnostic Genomics, Nedlands, Western Australia, Australia.

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October 2020

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Authors:
Sarah J Beecroft Kyle S Yau Richard J N Allcock Kym Mina Rebecca Gooding Fathimath Faiz Vanessa J Atkinson Cheryl Wise Padma Sivadorai Daniel Trajanoski Nina Kresoje Royston Ong Rachael M Duff Macarena Cabrera-Serrano Kristen J Nowak Nicholas Pachter Gianina Ravenscroft Phillipa J Lamont Mark R Davis Nigel G Laing

Ann Clin Transl Neurol 2020 03 9;7(3):353-362. Epub 2020 Mar 9.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia.

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March 2020

High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:
Aisling B Mc Glacken-Byrne David Prentice Danial Roshandel Michael R Brown Philip Tuch Kyle S-Y Yau Padma Sivadorai Mark R Davis Nigel G Laing Fred K Chen

BMC Ophthalmol 2020 Feb 24;20(1):68. Epub 2020 Feb 24.

Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, 6009, Australia.

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February 2020

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.

Authors:
Emily J Todd Kyle S Yau Royston Ong Jennie Slee George McGillivray Christopher P Barnett Goknur Haliloglu Beril Talim Zuhal Akcoren Ariana Kariminejad Anita Cairns Nigel F Clarke Mary-Louise Freckmann Norma B Romero Denise Williams Caroline A Sewry Alison Colley Monique M Ryan Cathy Kiraly-Borri Padma Sivadorai Richard J N Allcock David Beeson Susan Maxwell Mark R Davis Nigel G Laing Gianina Ravenscroft

Orphanet J Rare Dis 2015 Nov 17;10:148. Epub 2015 Nov 17.

Harry Perkins Institute of Medical Research and the Centre for Medical Research, University of Western Australia, QQ Block, 6 Verdun Street, Nedlands, 6009, , WA, Australia.

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November 2015

Novel CHKB mutation expands the megaconial muscular dystrophy phenotype.

Authors:
Macarena Cabrera-Serrano Reimar C Junckerstorff Vanessa Atkinson Padma Sivadorai Richard J Allcock Phillipa Lamont Nigel G Laing

Muscle Nerve 2015 Jan 22;51(1):140-3. Epub 2014 Nov 22.

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, QQ Block, QEII Medical Centre, 6 Verdun Street, Perth, Western Australia, 6009, Australia; Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.

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January 2015

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.

Authors:
Pauline Gaignard Minal Menezes Manuel Schiff Aurélien Bayot Malgorzata Rak Hélène Ogier de Baulny Chen-Hsien Su Mylene Gilleron Anne Lombes Heni Abida Alexander Tzagoloff Lisa Riley Sandra T Cooper Kym Mina Padma Sivadorai Mark R Davis Richard J N Allcock Nina Kresoje Nigel G Laing David R Thorburn Abdelhamid Slama John Christodoulou Pierre Rustin

Am J Hum Genet 2013 Aug 1;93(2):384-9. Epub 2013 Aug 1.

Laboratoire de Biochimie, Hôpital de Bicêtre, Assistance Publique - Hôpitaux de Paris, 78 Rue du Général Leclerc, 94275 Le Kremlin Bicêtre Cedex, France.

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August 2013

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Authors:
Gianina Ravenscroft Satoko Miyatake Vilma-Lotta Lehtokari Emily J Todd Pauliina Vornanen Kyle S Yau Yukiko K Hayashi Noriko Miyake Yoshinori Tsurusaki Hiroshi Doi Hirotomo Saitsu Hitoshi Osaka Sumimasa Yamashita Takashi Ohya Yuko Sakamoto Eriko Koshimizu Shintaro Imamura Michiaki Yamashita Kazuhiro Ogata Masaaki Shiina Robert J Bryson-Richardson Raquel Vaz Ozge Ceyhan Catherine A Brownstein Lindsay C Swanson Sophie Monnot Norma B Romero Helge Amthor Nina Kresoje Padma Sivadorai Cathy Kiraly-Borri Goknur Haliloglu Beril Talim Diclehan Orhan Gulsev Kale Adrian K Charles Victoria A Fabian Mark R Davis Martin Lammens Caroline A Sewry Adnan Manzur Francesco Muntoni Nigel F Clarke Kathryn N North Enrico Bertini Yoram Nevo Ekkhard Willichowski Inger E Silberg Haluk Topaloglu Alan H Beggs Richard J N Allcock Ichizo Nishino Carina Wallgren-Pettersson Naomichi Matsumoto Nigel G Laing

Am J Hum Genet 2013 Jul 6;93(1):6-18. Epub 2013 Jun 6.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia 6009, Australia.

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July 2013

Whole exome sequencing in foetal akinesia expands the genotype-phenotype spectrum of GBE1 glycogen storage disease mutations.

Authors:
Gianina Ravenscroft Elizabeth M Thompson Emily J Todd Kyle S Yau Nina Kresoje Padma Sivadorai Kathryn Friend Kate Riley Nicholas D Manton Peter Blumbergs Michael Fietz Rachael M Duff Mark R Davis Richard J Allcock Nigel G Laing

Neuromuscul Disord 2013 Feb 3;23(2):165-9. Epub 2012 Dec 3.

Western Australian Institute for Medical Research and the Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.

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February 2013

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Authors:
Nyamkhishig Sambuughin Kyle S Yau Montse Olivé Rachael M Duff Munkhuu Bayarsaikhan Shajia Lu Laura Gonzalez-Mera Padma Sivadorai Kristen J Nowak Gianina Ravenscroft Frank L Mastaglia Kathryn N North Biljana Ilkovski Hannie Kremer Martin Lammens Baziel G M van Engelen Vicki Fabian Phillipa Lamont Mark R Davis Nigel G Laing Lev G Goldfarb

Am J Hum Genet 2010 Dec 25;87(6):842-7. Epub 2010 Nov 25.

Department of Anesthesiology, Uniformed Services University, Bethesda, MD 20814, USA.

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December 2010

A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance.

Authors:
Gianina Ravenscroft Jo M Wilmshurst Komala Pillay Padma Sivadorai William Wallefeld Kristen J Nowak Nigel G Laing

Neuromuscul Disord 2011 Jan 17;21(1):31-6. Epub 2010 Sep 17.

Centre for Medical Research, The University of Western Australia, Western Australian Institute for Medical Research, Nedlands, Australia.

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January 2011

Gly111Ser mutation in CD8A gene causing CD8 immunodeficiency is found in Spanish Gypsies.

Authors:
Esther Mancebo Miguel A Moreno-Pelayo Angeles Mencía Oscar de la Calle-Martín Luis M Allende Padma Sivadorai Luba Kalaydjieva Jaume Bertranpetit Eliecer Coto Sara Calleja-Antolín Jesus Ruiz-Contreras Estela Paz-Artal

Mol Immunol 2008 Jan 20;45(2):479-84. Epub 2007 Jul 20.

Servicio de Inmunología, Hospital Universitario 12 de Octubre, Avda Córdoba s/n, 28041 Madrid, Spain.

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January 2008

Tracking the fate of iron in early development of human blood flukes.

Authors:
Malcolm K Jones Donald P McManus Padma Sivadorai Amber Glanfield Luke Moertel Sabina I Belli Geoffrey N Gobert

Int J Biochem Cell Biol 2007 27;39(9):1646-58. Epub 2007 Apr 27.

Queensland Institute of Medical Research, Herston, Qld 4029, Australia.

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September 2007