Mark Corbett

Mark Corbett

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Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 Oct 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2019 Jun 29. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
June 2019

Dying on Hospice in the Midst of an Opioid Crisis: What Should We Do Now?

Am J Hosp Palliat Care 2019 Apr 23;36(4):273-281. Epub 2018 Oct 23.

6 Section of Palliative Care and Medical Ethics and Section of Treatment, Research and Education in Addiction Medicine, Division of General Internal Medicine, Department of Medicine, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.

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http://dx.doi.org/10.1177/1049909118806664DOI Listing
April 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

Division of Genetic Medicine, University of Washington, Seattle, WA 98195, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

The development and evaluation of a novel repurposing of a peripheral gaming device for the acquisition of forces applied to a hydraulic treatment plinth.

Musculoskelet Sci Pract 2018 08 13;36:87-91. Epub 2018 Jan 13.

Institute of Sport and Exercise Sciences, University of Worcester, Henwick Grove, Worcester, WR2 6AJ, UK.

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http://dx.doi.org/10.1016/j.msksp.2018.01.004DOI Listing
August 2018

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.

Neurobiol Dis 2018 08 12;116:106-119. Epub 2018 May 12.

School of Medicine, The University of Adelaide, Adelaide 5005, Australia; Robinson Research Institute, The University of Adelaide, Adelaide 5006, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.05.004DOI Listing
August 2018

Large deletions induced by Cas9 cleavage.

Nature 2018 08 8;560(7717):E8-E9. Epub 2018 Aug 8.

School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia.

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http://www.nature.com/articles/s41586-018-0380-z
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http://dx.doi.org/10.1038/s41586-018-0380-zDOI Listing
August 2018

Treatment of extravasation injuries in infants and young children: a scoping review and survey.

Health Technol Assess 2018 08;22(46):1-112

Centre for Reviews and Dissemination, University of York, York, UK.

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http://dx.doi.org/10.3310/hta22460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139478PMC
August 2018

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Am J Hum Genet 2018 05 12;102(5):985-994. Epub 2018 Apr 12.

Stanley Institute for Cognitive Genomics, 1Bungtown Road, Cold Spring Harbor Laboratory, NY 11724, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183009
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http://dx.doi.org/10.1016/j.ajhg.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986698PMC
May 2018

Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.

Transl Psychiatry 2018 04 23;8(1):88. Epub 2018 Apr 23.

Adelaide Medical School, Faculty of Health and Medical Sciences, University of Adelaide, Adelaide, SA, Australia.

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http://dx.doi.org/10.1038/s41398-018-0136-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911435PMC
April 2018

Workplace lighting for improving alertness and mood in daytime workers.

Cochrane Database Syst Rev 2018 03 2;3:CD012243. Epub 2018 Mar 2.

Cochrane Brazil, Centro de Estudos de Saúde Baseada em Evidências e Avaliação Tecnológica em Saúde, Rua Borges Lagoa, 564 cj 63, São Paulo, SP, Brazil, 04038-000.

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http://dx.doi.org/10.1002/14651858.CD012243.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6494162PMC
March 2018

Methodological challenges for the evaluation of clinical effectiveness in the context of accelerated regulatory approval: an overview.

J Clin Epidemiol 2017 Oct 12;90:108-118. Epub 2017 Jul 12.

Centre for Reviews and Dissemination, University of York, York YO10 5DD, UK.

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http://dx.doi.org/10.1016/j.jclinepi.2017.07.002DOI Listing
October 2017

Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction.

Eur J Hum Genet 2017 09 14;25(9):1078-1082. Epub 2017 Jun 14.

The Robinson Research Institute, The University of Adelaide, Adelaide, Australia.

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http://dx.doi.org/10.1038/ejhg.2017.97DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558180PMC
September 2017

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

Eur J Med Genet 2017 Aug 8;60(8):437-443. Epub 2017 Jun 8.

Adelaide Medical School, Robinson Research Institute, The University of Adelaide, Adelaide 5005, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2017.06.002DOI Listing
August 2017

VSED: Death With Dignity or Without?

Authors:
Mark Corbett

Narrat Inq Bioeth 2016 ;6(2):109-113

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http://dx.doi.org/10.1353/nib.2016.0026DOI Listing
March 2017

Innovative regenerative medicines in the EU: a better future in evidence?

BMC Med 2017 Mar 8;15(1):49. Epub 2017 Mar 8.

Centre for Reviews and Dissemination, University of York, Heslington, York, YO10 5DD, UK.

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http://dx.doi.org/10.1186/s12916-017-0818-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5341436PMC
March 2017

A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability.

Eur J Hum Genet 2016 11 25;24(11):1612-1616. Epub 2016 May 25.

School of Medicine and the Robinson Research Institute, The University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1038/ejhg.2016.46DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110046PMC
November 2016

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.

Neurology 2016 Nov 12;87(19):1975-1984. Epub 2016 Oct 12.

From the School of Medicine and Robinson Research Institute (M.A.C., R.C., J.G.) and School of Biological Sciences (J.G.), The University of Adelaide; Epilepsy Research Centre, Department of Medicine (S.T.B., S. Micallef, S.F.B., I.E.S.), University of Melbourne, Austin Health, Heidelberg; Florey Institute of Neuroscience and Mental Health (M.L., S. Maljevic, E.V.G., S.P., I.E.S.), Melbourne; Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.T.M., H.C.M.), University of Washington, Seattle; Department of Neurology (K.B.H., I.E.S.), Royal Children's Hospital; Neurosciences Group (K.B.H.), Murdoch Childrens Research Institute, Melbourne; Department of Paediatrics (K.B.H.), University of Melbourne, Royal Children's Hospital, Parkville, Australia; Department of Neurology and Epileptology (S. Maljevic, H.L.), Hertie Institute for Clinical Brain Research, University of Tübingen, Germany; The Walter and Eliza Hall Institute of Medical Research (M.B.); Department of Medical Biology (M.B.), The University of Melbourne, Parkville; and Department of Medicine, Royal Melbourne Hospital (S.P.), The University of Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003309DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5109949PMC
November 2016

The Clinical and Cost Effectiveness of Apremilast for Treating Active Psoriatic Arthritis: A Critique of the Evidence.

Pharmacoeconomics 2016 11;34(11):1101-1110

Centre for Health Economics, University of York, Heslington, York, YO10 5DD, UK.

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http://dx.doi.org/10.1007/s40273-016-0419-7DOI Listing
November 2016

Paternal under-nutrition programs metabolic syndrome in offspring which can be reversed by antioxidant/vitamin food fortification in fathers.

Sci Rep 2016 06 3;6:27010. Epub 2016 Jun 3.

Discipline of Obstetrics and Gynaecology, School of Medicine, Robinson Research Institute, University of Adelaide, South Australia, 5005, Australia.

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http://dx.doi.org/10.1038/srep27010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891691PMC
June 2016

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

Am J Med Genet A 2016 Apr 28;170A(4):1059-63. Epub 2015 Dec 28.

School of Medicine, University of Adelaide, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.37527DOI Listing
April 2016

Randomization methods in emergency setting trials: a descriptive review.

Res Synth Methods 2016 Mar 2;7(1):46-54. Epub 2015 Sep 2.

Centre for Reviews and Dissemination, University of York, York, YO10 5DD, UK.

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http://dx.doi.org/10.1002/jrsm.1163DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5014172PMC
March 2016

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Neurology 2016 Feb 22;86(8):713-22. Epub 2016 Jan 22.

From the Sackler School of Medicine (Z.A., I.B., M.Y.N., T.L.-S., A.D.K.), Tel Aviv University, Ramat Aviv, Israel; Epilepsy Research Centre (K.L.O., K.L.H., I.E.S., S.F.B.), University of Melbourne, Austin Health, Heidelberg, Australia; Epilepsy Unit (S.K., H.G.-S., R.S.), Schneider Children's Medical Center of Israel, Petach Tikvah; Department of Neurology (A.M., M.Y.N.), Tel Aviv Sourasky Medical Center; Department of Neurology (I.B.), The Chaim Sheba Medical Center, Tel Hashomer; Shaare Zedek Medical Center (A.J.M.), Jerusalem; Department of Neurology (S.W.), Western Galilee Hospital, Nahariya; Pediatric Neurology and Child Development Center (M. Mahajnah), Hillel Yaffe Medical Center, Hadera; Ruth and Bruce Rappaport Faculty of Medicine (M. Mahajnah), Technion, Haifa; Pediatric Neurology Unit (T.L.-S.), Wolfson Medical Center, Holon; The Edmond and Lily Safra Children's Hospital (B.B.-Z.), Sheba Medical Center, Ramat Gan; Department of Neurology (E.K.), Barzilai Medical Center, Ashkelon; Faculty of Health Sciences (E.K., R.M., Z.S.), Ben-Gurion University of the Negev, Beer-Sheva; Department of Neurology (R.M.) and Pediatric Neurology Unit (Z.S.), Soroka University Medical Center, Beer-Sheva; Pediatric Neurology Unit (U.K.), Dana Children's Hospital, Tel Aviv; Department of Neurology (D.E.), Agnes Ginges Center of Neurogenetics, Hadassah-Hebrew University Medical Center, Jerusalem, Israel; School of Biomedical Sciences (R.H.W.), Charles Sturt University, NSW; Queensland Brain Institute (M. Mangelsdorf), University of Queensland, Brisbane, Australia; Wessex Regional Genetics Laboratory (J.N.M.), Salisbury NHS Foundation Trust, Salisbury, UK; Division of Genetic Medicine (G.L.C., H.C.M.), Department of Pediatrics, University of Washington, Seattle; Florey Institute (G.D.J., I.E.S.), Melbourne; Department of Pediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital; Population Health and Immunity Division (M.B.), The Walter and Eliza Hall Institute o

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http://dx.doi.org/10.1212/WNL.0000000000002404DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4763801PMC
February 2016

Quality measures and their importance to allergy/immunology.

J Allergy Clin Immunol Pract 2015 Mar-Apr;3(2):187-91. Epub 2015 Jan 26.

Department of Allergy and Clinical Immunology, Cleveland Clinic, Cleveland, Ohio.

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http://dx.doi.org/10.1016/j.jaip.2014.11.021DOI Listing
December 2015

shRNA off-target effects in vivo: impaired endogenous siRNA expression and spermatogenic defects.

PLoS One 2015 19;10(3):e0118549. Epub 2015 Mar 19.

Department of Reproductive Medicine, School of Medicine, University of California San Diego, La Jolla, California, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0118549PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4366048PMC
December 2015

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Hum Mol Genet 2015 Sep 29;24(18):5250-9. Epub 2015 Jun 29.

School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia,

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http://dx.doi.org/10.1093/hmg/ddv245DOI Listing
September 2015

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal.

J Clin Endocrinol Metab 2015 May 17;100(5):E815-20. Epub 2015 Mar 17.

School of Molecular & Biomedical Science (B.H., J.H., P.T.), Robinson Research Institute (B.H., J.H., M.C., M.S., J.G., P.T.), School of Pediatrics and Reproductive Health (M.C., M.S., J.G.), The University of Adelaide, Adelaide, Australia 5005; Manchester Centre For Genomic Medicine (J.I., J.C.-S.), Central Manchester National Health Service Foundation Trust, University of Manchester, Manchester M13 9WL; and Department of Child Health (L.P.), Royal Manchester Children's Hospital, University of Manchester, Manchester M13 9WL.

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http://dx.doi.org/10.1210/jc.2014-4383DOI Listing
May 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Developmental disorders: deciphering exomes on a grand scale.

Lancet 2015 Apr 17;385(9975):1266-7. Epub 2014 Dec 17.

School of Paediatrics and Reproductive Health and Robinson Research Institute, The University of Adelaide at the Women's and Children's Hospital, North Adelaide, Adelaide SA 5006, Australia.

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http://dx.doi.org/10.1016/S0140-6736(14)62122-XDOI Listing
April 2015

Global Access Programs: A Collaborative Approach for Effective Implementation and Management.

Pharmaceut Med 2015;29(2):79-85

Clinigen Healthcare Limited, Pitcairn House, Crown Square, Centrum 100, Burton-on-Trent, Staffordshire DE14 2WW UK.

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http://link.springer.com/10.1007/s40290-015-0091-9
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http://dx.doi.org/10.1007/s40290-015-0091-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4392108PMC
January 2015

Assessing baseline imbalance in randomised trials: implications for the Cochrane risk of bias tool.

Res Synth Methods 2014 Mar 1;5(1):79-85. Epub 2013 Aug 1.

Centre for Reviews and Dissemination, University of York, York, YO10 5DD, UK.

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http://dx.doi.org/10.1002/jrsm.1090DOI Listing
March 2014

A potential aid to circadian adaptation: re-timer.

Authors:
Mark A Corbett

Aviat Space Environ Med 2013 Oct;84(10):1113-4

RAAF Institute of Aviation Medicine, RAAF Base Edinburgh, SA, Australia.

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http://dx.doi.org/10.3357/asem.3827.2013DOI Listing
October 2013

Quality assessment of comparative diagnostic accuracy studies: our experience using a modified version of the QUADAS-2 tool.

Res Synth Methods 2013 Sep 10;4(3):280-6. Epub 2013 Jun 10.

Centre for Reviews and Dissemination, University of York, York, England, YO10 5DD, UK.

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http://dx.doi.org/10.1002/jrsm.1080DOI Listing
September 2013

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.

Am J Med Genet A 2013 Jun 6;161A(6):1508-12. Epub 2013 May 6.

Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, and School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1002/ajmg.a.35922DOI Listing
June 2013

The use and reporting of WOMAC in the assessment of the benefit of physical therapies for the pain of osteoarthritis of the knee: findings from a systematic review of clinical trials.

Rheumatology (Oxford) 2012 Aug 30;51(8):1440-6. Epub 2012 Mar 30.

Centre for Reviews and Dissemination, University of York, York YO10 5DD, UK.

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http://dx.doi.org/10.1093/rheumatology/kes043DOI Listing
August 2012

Complex interplay between determinants of pacing and performance during 20-km cycle time trials.

Int J Sports Physiol Perform 2012 Jun 12;7(2):121-9. Epub 2011 Dec 12.

Institute of Sport and Exercise Science, University of Worcester, Worcester, UK.

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https://eprints.worc.ac.uk/1646/1/complex_interplay.pdf
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http://dx.doi.org/10.1123/ijspp.7.2.121DOI Listing
June 2012

Allergen immunotherapy practice in the United States: guidelines, measures, and outcomes.

Ann Allergy Asthma Immunol 2011 Oct 31;107(4):289-99; quiz 300. Epub 2011 Jul 31.

Nova Southeastern University, Ft Lauderdale, Florida, USA.

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http://dx.doi.org/10.1016/j.anai.2011.06.018DOI Listing
October 2011

The American Board of Allergy and Immunology maintenance of certification program.

Ann Allergy Asthma Immunol 2011 Jun 19;106(6):549. Epub 2011 Apr 19.

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http://dx.doi.org/10.1016/j.anai.2011.03.006DOI Listing
June 2011

The American Board of Allergy and Immunology maintenance of certification program: "to do or not to do? That is the question.".

Ann Allergy Asthma Immunol 2010 Dec;105(6):485-8

American Board of Allergy and Immunology, Philadelphia, Pennsylvania, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10811206100094
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http://dx.doi.org/10.1016/j.anai.2010.10.004DOI Listing
December 2010

Great expectations: using massively parallel sequencing to solve inherited disorders.

Expert Rev Mol Diagn 2010 Oct;10(7):833-6

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http://dx.doi.org/10.1586/erm.10.83DOI Listing
October 2010

Hypoxia awareness training for aircrew: a comparison of two techniques.

Aviat Space Environ Med 2010 Sep;81(9):857-63

Royal Australian Air Force Institute of Aviation Medicine, Edinburgh SA 5111, Australia.

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http://dx.doi.org/10.3357/asem.2640.2010DOI Listing
September 2010

The genetic landscape of intellectual disability arising from chromosome X.

Trends Genet 2009 Jul 24;25(7):308-16. Epub 2009 Jun 24.

Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.

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http://dx.doi.org/10.1016/j.tig.2009.05.002DOI Listing
July 2009

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.

Nat Genet 2009 May 19;41(5):535-43. Epub 2009 Apr 19.

Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK.

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http://dx.doi.org/10.1038/ng.367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872007PMC
May 2009

Protein and gene expression analysis of Phf6, the gene mutated in the Börjeson-Forssman-Lehmann Syndrome of intellectual disability and obesity.

Gene Expr Patterns 2007 Oct 6;7(8):858-71. Epub 2007 Jul 6.

Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Vic. 3050, Australia.

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October 2007

IQGAP and mitotic exit network (MEN) proteins are required for cytokinesis and re-polarization of the actin cytoskeleton in the budding yeast, Saccharomyces cerevisiae.

Eur J Cell Biol 2006 Nov 26;85(11):1201-15. Epub 2006 Sep 26.

Biological Sciences, Lancaster Environment Centre, Lancaster University, Lancaster LA1 4YQ, UK.

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http://dx.doi.org/10.1016/j.ejcb.2006.08.001DOI Listing
November 2006

Skeletal muscle repair in a mouse model of nemaline myopathy.

Hum Mol Genet 2006 Sep 28;15(17):2603-12. Epub 2006 Jul 28.

Program in Genomics and Genetics Division, Children's Hospital Boston, Harvard Medical School, MA 02115, USA.

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September 2006

An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.

Ann Neurol 2005 Jan;57(1):42-9

The Muscle Development Unit, The Children's Medical Research Institute, Wentworthville, New South Wales 2145, Australia.

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January 2005