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

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Title: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Authors: Todd EJ; 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. emilytodd@live.com., Yau KS; 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. 20163622@student.uwa.edu.au., Ong R; 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. royston.ong@uwa.edu.au., Slee J; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. jennie.slee@health.wa.gov.au., McGillivray G; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. george.mcgillivray@vcgs.org.au., Barnett CP; Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au., Haliloglu G; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. gtuncer@hacettepe.edu.tr., Talim B; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. btalim@hacettepe.edu.tr., Akcoren Z; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. zakcoren@hacettepe.edu.tr., Kariminejad A; Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. arianakariminejad@yahoo.com., Cairns A; Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_Cairns@health.qld.gov.au., Clarke NF; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. nigel.clarke@health.nsw.gov.au.; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, , NSW, Australia. nigel.clarke@health.nsw.gov.au., Freckmann ML; Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. Mary-Louise.Freckmann@sesiahs.health.nsw.gov.au., Romero NB; Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org., Williams D; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. denise.williams@bwnft.nhs.uk.; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. denise.williams@bwnft.nhs.uk., Sewry CA; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. c.sewry@imperial.ac.uk., Colley A; Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. alison.colley@sswahs.nsw.gov.au., Ryan MM; Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. monique.ryan@rch.org.au., Kiraly-Borri C; Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. Cathy.Kiraly-Borri@health.wa.gov.au., Sivadorai P; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. padma.sivadorai@health.wa.gov.au., Allcock RJ; Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. richard.allcock@uwa.edu.au., Beeson D; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. david.beeson@ndcn.ox.ac.uk., Maxwell S; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. susan.maxwell@imm.ox.ac.uk., Davis MR; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au., Laing NG; 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. nigel.laing@uwa.edu.au.; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au., Ravenscroft G; 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. gina.ravenscroft@perkins.uwa.edu.au.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 17; Vol. 10, pp. 148. Date of Electronic Publication: 2015 Nov 17.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
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  Data: Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
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  Data: <searchLink fieldCode="AU" term="%22Todd+EJ%22">Todd EJ</searchLink>; 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. emilytodd@live.com.<br /><searchLink fieldCode="AU" term="%22Yau+KS%22">Yau KS</searchLink>; 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. 20163622@student.uwa.edu.au.<br /><searchLink fieldCode="AU" term="%22Ong+R%22">Ong R</searchLink>; 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. royston.ong@uwa.edu.au.<br /><searchLink fieldCode="AU" term="%22Slee+J%22">Slee J</searchLink>; Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, , WA, Australia. jennie.slee@health.wa.gov.au.<br /><searchLink fieldCode="AU" term="%22McGillivray+G%22">McGillivray G</searchLink>; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, The Royal Children's Hospital, Parkville, 3052, , VIC, Australia. george.mcgillivray@vcgs.org.au.<br /><searchLink fieldCode="AU" term="%22Barnett+CP%22">Barnett CP</searchLink>; Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, 5006, , SA, Australia. christopher.barnett@health.sa.gov.au.<br /><searchLink fieldCode="AU" term="%22Haliloglu+G%22">Haliloglu G</searchLink>; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. gtuncer@hacettepe.edu.tr.<br /><searchLink fieldCode="AU" term="%22Talim+B%22">Talim B</searchLink>; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. btalim@hacettepe.edu.tr.<br /><searchLink fieldCode="AU" term="%22Akcoren+Z%22">Akcoren Z</searchLink>; Pediatric Pathology Unit, Hacettepe University Children's Hospital, Ankara, 06100, Turkey. zakcoren@hacettepe.edu.tr.<br /><searchLink fieldCode="AU" term="%22Kariminejad+A%22">Kariminejad A</searchLink>; Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656, Iran. arianakariminejad@yahoo.com.<br /><searchLink fieldCode="AU" term="%22Cairns+A%22">Cairns A</searchLink>; Royal Children's Hospital, Herston Road, Herson, 4029, , QLD, Australia. Anita_Cairns@health.qld.gov.au.<br /><searchLink fieldCode="AU" term="%22Clarke+NF%22">Clarke NF</searchLink>; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, 2145, , NSW, Australia. nigel.clarke@health.nsw.gov.au.; Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, , NSW, Australia. nigel.clarke@health.nsw.gov.au.<br /><searchLink fieldCode="AU" term="%22Freckmann+ML%22">Freckmann ML</searchLink>; Sydney Children's Hospital, High Street, Randwick, 2031, , NSW, Australia. Mary-Louise.Freckmann@sesiahs.health.nsw.gov.au.<br /><searchLink fieldCode="AU" term="%22Romero+NB%22">Romero NB</searchLink>; Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651, France. nb.romero@institut-myologie.org.<br /><searchLink fieldCode="AU" term="%22Williams+D%22">Williams D</searchLink>; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. denise.williams@bwnft.nhs.uk.; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. denise.williams@bwnft.nhs.uk.<br /><searchLink fieldCode="AU" term="%22Sewry+CA%22">Sewry CA</searchLink>; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH, UK. c.sewry@imperial.ac.uk.; Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG, UK. c.sewry@imperial.ac.uk.<br /><searchLink fieldCode="AU" term="%22Colley+A%22">Colley A</searchLink>; Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, , NSW, Australia. alison.colley@sswahs.nsw.gov.au.<br /><searchLink fieldCode="AU" term="%22Ryan+MM%22">Ryan MM</searchLink>; Department of Neurology, The Royal Children's Hospital, Melbourne, 3000, , VIC, Australia. monique.ryan@rch.org.au.<br /><searchLink fieldCode="AU" term="%22Kiraly-Borri+C%22">Kiraly-Borri C</searchLink>; Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, , WA, Australia. Cathy.Kiraly-Borri@health.wa.gov.au.<br /><searchLink fieldCode="AU" term="%22Sivadorai+P%22">Sivadorai P</searchLink>; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. padma.sivadorai@health.wa.gov.au.<br /><searchLink fieldCode="AU" term="%22Allcock+RJ%22">Allcock RJ</searchLink>; Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, , WA, Australia. richard.allcock@uwa.edu.au.<br /><searchLink fieldCode="AU" term="%22Beeson+D%22">Beeson D</searchLink>; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. david.beeson@ndcn.ox.ac.uk.<br /><searchLink fieldCode="AU" term="%22Maxwell+S%22">Maxwell S</searchLink>; Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. susan.maxwell@imm.ox.ac.uk.<br /><searchLink fieldCode="AU" term="%22Davis+MR%22">Davis MR</searchLink>; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. mark.davis@health.wa.gov.au.<br /><searchLink fieldCode="AU" term="%22Laing+NG%22">Laing NG</searchLink>; 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. nigel.laing@uwa.edu.au.; Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, , WA, Australia. nigel.laing@uwa.edu.au.<br /><searchLink fieldCode="AU" term="%22Ravenscroft+G%22">Ravenscroft G</searchLink>; 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. gina.ravenscroft@perkins.uwa.edu.au.
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