Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Identifieur interne : 002A88 ( Main/Exploration ); précédent : 002A87; suivant : 002A89Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
Auteurs : Emily J. Todd ; Kyle S. Yau ; Royston Ong ; Jennie Slee ; George Mcgillivray ; Christopher P. Barnett ; Goknur Haliloglu [Turquie] ; Beril Talim [Turquie] ; Zuhal Akcoren [Turquie] ; Ariana Kariminejad [Iran] ; Anita Cairns ; Nigel F. Clarke [Australie] ; Mary-Louise Freckmann [Australie] ; Norma B. Romero [France] ; Denise Williams ; Caroline A. Sewry ; Alison Colley [Australie] ; Monique M. Ryan ; Cathy Kiraly-Borri ; Padma Sivadorai ; Richard J. N. Allcock ; David Beeson [Royaume-Uni] ; Susan Maxwell [Royaume-Uni] ; Mark R. Davis ; Nigel G. Laing ; Gianina RavenscroftSource :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2015.
Descripteurs français
- KwdFr :
- Diagnostic prénatal (), Diagnostic prénatal (tendances), Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Maladies neuromusculaires (diagnostic), Maladies neuromusculaires (génétique), Mâle, Nourrisson, Nouveau-né, Pedigree, Séquence d'acides aminés, Séquençage nucléotidique à haut débit (), Séquençage nucléotidique à haut débit (tendances), Études de cohortes.
- MESH :
- diagnostic : Maladies neuromusculaires.
- génétique : Maladies neuromusculaires.
- tendances : Diagnostic prénatal, Séquençage nucléotidique à haut débit.
- Diagnostic prénatal, Données de séquences moléculaires, Enfant, Enfant d'âge préscolaire, Femelle, Humains, Mâle, Nourrisson, Nouveau-né, Pedigree, Séquence d'acides aminés, Séquençage nucléotidique à haut débit, Études de cohortes.
English descriptors
- KwdEn :
- Amino Acid Sequence, Child, Child, Preschool, Cohort Studies, Female, High-Throughput Nucleotide Sequencing (methods), High-Throughput Nucleotide Sequencing (trends), Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Neuromuscular Diseases (diagnosis), Neuromuscular Diseases (genetics), Pedigree, Prenatal Diagnosis (methods), Prenatal Diagnosis (trends).
- MESH :
- diagnosis : Neuromuscular Diseases.
- genetics : Neuromuscular Diseases.
- methods : High-Throughput Nucleotide Sequencing, Prenatal Diagnosis.
- trends : High-Throughput Nucleotide Sequencing, Prenatal Diagnosis.
- Amino Acid Sequence, Child, Child, Preschool, Cohort Studies, Female, Humans, Infant, Infant, Newborn, Male, Molecular Sequence Data, Pedigree.
Abstract
Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual’s DNA can now be analysed through “whole” exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.
Genomic DNA samples from 45 patients with fetal akinesia/hypokinesia, arthrogryposis or severe congenital myopathies from 38 unrelated families were subjected to next generation sequencing. Clinical features and diagnoses for each patient were supplied by referring clinicians. Genomic DNA was used for either whole exome sequencing or a custom-designed neuromuscular sub-exomic supercapture array containing 277 genes responsible for various neuromuscular diseases. Candidate disease-causing variants were investigated and confirmed using Sanger sequencing. Some of the cases within this cohort study have been published previously as separate studies.
A conclusive genetic diagnosis was achieved for 18 of the 38 families. Within this cohort, mutations were found in eight previously known neuromuscular disease genes (
By using next generation sequencing on a cohort of 38 unrelated families with fetal akinesia/hypokinesia, arthrogryposis, or severe congenital myopathy we therefore obtained a genetic diagnosis for 47 % of families. This study highlights the power and capacity of next generation sequencing (i) to determine the aetiology of genetically heterogeneous neuromuscular diseases, (ii) to identify novel disease genes in small pedigrees or isolated cases and (iii) to refine the interplay between genetic diagnosis and clinical evaluation and management.
The online version of this article (doi:10.1186/s13023-015-0364-0) contains supplementary material, which is available to authorized users.
Url:
DOI: 10.1186/s13023-015-0364-0
PubMed: 26578207
PubMed Central: 4650299
Affiliations:
- Australie, France, Iran, Royaume-Uni, Turquie
- Angleterre, Nouvelle-Galles du Sud, Oxfordshire, Île-de-France
- Oxford, Paris
- Université d'Oxford
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000D96
- to stream Pmc, to step Curation: 000C57
- to stream Pmc, to step Checkpoint: 000E38
- to stream PubMed, to step Corpus: 002709
- to stream PubMed, to step Curation: 002640
- to stream PubMed, to step Checkpoint: 002640
- to stream Ncbi, to step Merge: 002D59
- to stream Ncbi, to step Curation: 002D59
- to stream Ncbi, to step Checkpoint: 002D59
- to stream Main, to step Merge: 002A88
- to stream Main, to step Curation: 002A88
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth</title><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S." last="Yau">Kyle S. Yau</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Ong, Royston" sort="Ong, Royston" uniqKey="Ong R" first="Royston" last="Ong">Royston Ong</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Slee, Jennie" sort="Slee, Jennie" uniqKey="Slee J" first="Jennie" last="Slee">Jennie Slee</name><affiliation><nlm:aff id="Aff2">Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:aff id="Aff3">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, 3052, VIC Australia</nlm:aff><wicri:noCountry code="subfield">VIC Australia</wicri:noCountry></affiliation></author><author><name sortKey="Barnett, Christopher P" sort="Barnett, Christopher P" uniqKey="Barnett C" first="Christopher P." last="Barnett">Christopher P. Barnett</name><affiliation><nlm:aff id="Aff4">Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide, 5006, SA Australia</nlm:aff><wicri:noCountry code="subfield">SA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation wicri:level="1"><nlm:aff id="Aff5">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Akcoren, Zuhal" sort="Akcoren, Zuhal" uniqKey="Akcoren Z" first="Zuhal" last="Akcoren">Zuhal Akcoren</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Kariminejad, Ariana" sort="Kariminejad, Ariana" uniqKey="Kariminejad A" first="Ariana" last="Kariminejad">Ariana Kariminejad</name><affiliation wicri:level="1"><nlm:aff id="Aff7">Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656 Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Cairns, Anita" sort="Cairns, Anita" uniqKey="Cairns A" first="Anita" last="Cairns">Anita Cairns</name><affiliation><nlm:aff id="Aff8">Royal Children’s Hospital, Herston Road, Herson, 4029, QLD Australia</nlm:aff><wicri:noCountry code="subfield">QLD Australia</wicri:noCountry></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation wicri:level="2"><nlm:aff id="Aff9">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, 2145, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, 2145</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="Aff10">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006</wicri:cityArea></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation wicri:level="2"><nlm:aff id="Aff11">Sydney Children’s Hospital, High Street, Randwick, 2031, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Sydney Children’s Hospital, High Street, Randwick, 2031</wicri:cityArea></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation wicri:level="3"><nlm:aff id="Aff12">Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651 France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:aff id="Aff13">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH UK</nlm:aff><wicri:noCountry code="subfield">WC1N 1EH UK</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff14">Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG UK</nlm:aff><wicri:noCountry code="subfield">SY10 7AG UK</wicri:noCountry></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A" last="Sewry">Caroline A. Sewry</name><affiliation><nlm:aff id="Aff13">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH UK</nlm:aff><wicri:noCountry code="subfield">WC1N 1EH UK</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff14">Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG UK</nlm:aff><wicri:noCountry code="subfield">SY10 7AG UK</wicri:noCountry></affiliation></author><author><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><affiliation wicri:level="2"><nlm:aff id="Aff15">Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871</wicri:cityArea></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M." last="Ryan">Monique M. Ryan</name><affiliation><nlm:aff id="Aff16">Department of Neurology, The Royal Children’s Hospital, Melbourne, 3000, VIC Australia</nlm:aff><wicri:noCountry code="subfield">VIC Australia</wicri:noCountry></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="Aff17">Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J. N." last="Allcock">Richard J. N. Allcock</name><affiliation><nlm:aff id="Aff19">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Beeson, David" sort="Beeson, David" uniqKey="Beeson D" first="David" last="Beeson">David Beeson</name><affiliation wicri:level="4"><nlm:aff id="Aff20">Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS UK</nlm:aff><orgName type="university">Université d'Oxford</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Maxwell, Susan" sort="Maxwell, Susan" uniqKey="Maxwell S" first="Susan" last="Maxwell">Susan Maxwell</name><affiliation wicri:level="4"><nlm:aff id="Aff20">Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS UK</nlm:aff><orgName type="university">Université d'Oxford</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R." last="Davis">Mark R. Davis</name><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26578207</idno><idno type="pmc">4650299</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4650299</idno><idno type="RBID">PMC:4650299</idno><idno type="doi">10.1186/s13023-015-0364-0</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">000D96</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000D96</idno><idno type="wicri:Area/Pmc/Curation">000C57</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000C57</idno><idno type="wicri:Area/Pmc/Checkpoint">000E38</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000E38</idno><idno type="wicri:source">PubMed</idno><idno type="wicri:Area/PubMed/Corpus">002709</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002709</idno><idno type="wicri:Area/PubMed/Curation">002640</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">002640</idno><idno type="wicri:Area/PubMed/Checkpoint">002640</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">002640</idno><idno type="wicri:Area/Ncbi/Merge">002D59</idno><idno type="wicri:Area/Ncbi/Curation">002D59</idno><idno type="wicri:Area/Ncbi/Checkpoint">002D59</idno><idno type="wicri:Area/Main/Merge">002A88</idno><idno type="wicri:Area/Main/Curation">002A88</idno><idno type="wicri:Area/Main/Exploration">002A88</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth</title><author><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S." last="Yau">Kyle S. Yau</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Ong, Royston" sort="Ong, Royston" uniqKey="Ong R" first="Royston" last="Ong">Royston Ong</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Slee, Jennie" sort="Slee, Jennie" uniqKey="Slee J" first="Jennie" last="Slee">Jennie Slee</name><affiliation><nlm:aff id="Aff2">Genetic Services of Western Australia, King Edward Memorial Hospital, Perth, 6000, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><affiliation><nlm:aff id="Aff3">Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, The Royal Children’s Hospital, Parkville, 3052, VIC Australia</nlm:aff><wicri:noCountry code="subfield">VIC Australia</wicri:noCountry></affiliation></author><author><name sortKey="Barnett, Christopher P" sort="Barnett, Christopher P" uniqKey="Barnett C" first="Christopher P." last="Barnett">Christopher P. Barnett</name><affiliation><nlm:aff id="Aff4">Paediatric and Reproductive Genetics Unit, South Australia Clinical Genetics Service, Women’s and Children’s Hospital, North Adelaide, 5006, SA Australia</nlm:aff><wicri:noCountry code="subfield">SA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name><affiliation wicri:level="1"><nlm:aff id="Aff5">Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Department of Pediatric Neurology, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Akcoren, Zuhal" sort="Akcoren, Zuhal" uniqKey="Akcoren Z" first="Zuhal" last="Akcoren">Zuhal Akcoren</name><affiliation wicri:level="1"><nlm:aff id="Aff6">Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara, 06100 Turkey</nlm:aff><country xml:lang="fr">Turquie</country><wicri:regionArea>Pediatric Pathology Unit, Hacettepe University Children’s Hospital, Ankara</wicri:regionArea><wicri:noRegion>Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Kariminejad, Ariana" sort="Kariminejad, Ariana" uniqKey="Kariminejad A" first="Ariana" last="Kariminejad">Ariana Kariminejad</name><affiliation wicri:level="1"><nlm:aff id="Aff7">Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran, 14656 Iran</nlm:aff><country xml:lang="fr">Iran</country><wicri:regionArea>Kariminejad-Najmabadi Pathology and Genetics Centre, Tehran</wicri:regionArea><wicri:noRegion>Tehran</wicri:noRegion></affiliation></author><author><name sortKey="Cairns, Anita" sort="Cairns, Anita" uniqKey="Cairns A" first="Anita" last="Cairns">Anita Cairns</name><affiliation><nlm:aff id="Aff8">Royal Children’s Hospital, Herston Road, Herson, 4029, QLD Australia</nlm:aff><wicri:noCountry code="subfield">QLD Australia</wicri:noCountry></affiliation></author><author><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><affiliation wicri:level="2"><nlm:aff id="Aff9">Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, 2145, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Institute for Neuroscience and Muscle Research, The Children’s Hospital at Westmead, Sydney, 2145</wicri:cityArea></affiliation><affiliation wicri:level="2"><nlm:aff id="Aff10">Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Discipline of Paediatrics and Child Health, University of Sydney, Sydney, 2006</wicri:cityArea></affiliation></author><author><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name><affiliation wicri:level="2"><nlm:aff id="Aff11">Sydney Children’s Hospital, High Street, Randwick, 2031, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Sydney Children’s Hospital, High Street, Randwick, 2031</wicri:cityArea></affiliation></author><author><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name><affiliation wicri:level="3"><nlm:aff id="Aff12">Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris, 75651 France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Unitè de Morphologie Neuromusculaire, Institut de Myologie, Institut National de la Santè et de la Recherche Mèdicale, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><affiliation><nlm:aff id="Aff13">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH UK</nlm:aff><wicri:noCountry code="subfield">WC1N 1EH UK</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff14">Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG UK</nlm:aff><wicri:noCountry code="subfield">SY10 7AG UK</wicri:noCountry></affiliation></author><author><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A" last="Sewry">Caroline A. Sewry</name><affiliation><nlm:aff id="Aff13">Dubowitz Neuromuscular Centre, UCL Institute of Child Health, London, WC1N 1EH UK</nlm:aff><wicri:noCountry code="subfield">WC1N 1EH UK</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff14">Wolfson Centre for Neuromuscular Disorders, RJAH Orthopaedic Hospital, Oswestry, SY10 7AG UK</nlm:aff><wicri:noCountry code="subfield">SY10 7AG UK</wicri:noCountry></affiliation></author><author><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><affiliation wicri:level="2"><nlm:aff id="Aff15">Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871, NSW Australia</nlm:aff><country>Australie</country><placeName><region type="state">Nouvelle-Galles du Sud</region></placeName><wicri:cityArea>Department of Clinical Genetics, South Western Sydney Local Health District, Liverpool, 1871</wicri:cityArea></affiliation></author><author><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M." last="Ryan">Monique M. Ryan</name><affiliation><nlm:aff id="Aff16">Department of Neurology, The Royal Children’s Hospital, Melbourne, 3000, VIC Australia</nlm:aff><wicri:noCountry code="subfield">VIC Australia</wicri:noCountry></affiliation></author><author><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><affiliation><nlm:aff id="Aff17">Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, Subiaco, 6008, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J. N." last="Allcock">Richard J. N. Allcock</name><affiliation><nlm:aff id="Aff19">Lotterywest State Biomedical Facility Genomics and School of Pathology and Laboratory Medicine, University of Western Australia, Perth, 6000, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Beeson, David" sort="Beeson, David" uniqKey="Beeson D" first="David" last="Beeson">David Beeson</name><affiliation wicri:level="4"><nlm:aff id="Aff20">Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS UK</nlm:aff><orgName type="university">Université d'Oxford</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Maxwell, Susan" sort="Maxwell, Susan" uniqKey="Maxwell S" first="Susan" last="Maxwell">Susan Maxwell</name><affiliation wicri:level="4"><nlm:aff id="Aff20">Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS UK</nlm:aff><orgName type="university">Université d'Oxford</orgName><country>Royaume-Uni</country><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R." last="Davis">Mark R. Davis</name><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation><affiliation><nlm:aff id="Aff18">Department of Diagnostic Genomics, Pathwest, QEII Medical Centre, Nedlands, 6009, WA Australia</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author><author><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><affiliation><nlm:aff id="Aff1">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</nlm:aff><wicri:noCountry code="subfield">WA Australia</wicri:noCountry></affiliation></author></analytic><series><title level="j">Orphanet Journal of Rare Diseases</title><idno type="eISSN">1750-1172</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Amino Acid Sequence</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>High-Throughput Nucleotide Sequencing (methods)</term><term>High-Throughput Nucleotide Sequencing (trends)</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Molecular Sequence Data</term><term>Neuromuscular Diseases (diagnosis)</term><term>Neuromuscular Diseases (genetics)</term><term>Pedigree</term><term>Prenatal Diagnosis (methods)</term><term>Prenatal Diagnosis (trends)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Diagnostic prénatal ()</term><term>Diagnostic prénatal (tendances)</term><term>Données de séquences moléculaires</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Maladies neuromusculaires (diagnostic)</term><term>Maladies neuromusculaires (génétique)</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pedigree</term><term>Séquence d'acides aminés</term><term>Séquençage nucléotidique à haut débit ()</term><term>Séquençage nucléotidique à haut débit (tendances)</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Neuromuscular Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Maladies neuromusculaires</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Neuromuscular Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Maladies neuromusculaires</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" qualifier="tendances" xml:lang="fr"><term>Diagnostic prénatal</term><term>Séquençage nucléotidique à haut débit</term></keywords><keywords scheme="MESH" qualifier="trends" xml:lang="en"><term>High-Throughput Nucleotide Sequencing</term><term>Prenatal Diagnosis</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Amino Acid Sequence</term><term>Child</term><term>Child, Preschool</term><term>Cohort Studies</term><term>Female</term><term>Humans</term><term>Infant</term><term>Infant, Newborn</term><term>Male</term><term>Molecular Sequence Data</term><term>Pedigree</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Diagnostic prénatal</term><term>Données de séquences moléculaires</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Mâle</term><term>Nourrisson</term><term>Nouveau-né</term><term>Pedigree</term><term>Séquence d'acides aminés</term><term>Séquençage nucléotidique à haut débit</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Fetal akinesia/hypokinesia, arthrogryposis and severe congenital myopathies are heterogeneous conditions usually presenting before or at birth. Although numerous causative genes have been identified for each of these disease groups, in many cases a specific genetic diagnosis remains elusive. Due to the emergence of next generation sequencing, virtually the entire coding region of an individual’s DNA can now be analysed through “whole” exome sequencing, enabling almost all known and novel disease genes to be investigated for disorders such as these.</p></sec><sec><title>Methods</title><p>Genomic DNA samples from 45 patients with fetal akinesia/hypokinesia, arthrogryposis or severe congenital myopathies from 38 unrelated families were subjected to next generation sequencing. Clinical features and diagnoses for each patient were supplied by referring clinicians. Genomic DNA was used for either whole exome sequencing or a custom-designed neuromuscular sub-exomic supercapture array containing 277 genes responsible for various neuromuscular diseases. Candidate disease-causing variants were investigated and confirmed using Sanger sequencing. Some of the cases within this cohort study have been published previously as separate studies.</p></sec><sec><title>Results</title><p>A conclusive genetic diagnosis was achieved for 18 of the 38 families. Within this cohort, mutations were found in eight previously known neuromuscular disease genes (<italic>CHRND</italic>, <italic>CHNRG</italic>, <italic>ECEL1</italic>, <italic>GBE1</italic>, <italic>MTM1</italic>, <italic>MYH3</italic>, <italic>NEB</italic> and <italic>RYR1</italic>) and four novel neuromuscular disease genes were identified and have been published as separate reports (<italic>GPR126</italic>, <italic>KLHL40</italic>, <italic>KLHL41</italic> and <italic>SPEG</italic>). In addition, novel mutations were identified in <italic>CHRND</italic>, <italic>KLHL40</italic>, <italic>NEB</italic> and <italic>RYR1</italic>. Autosomal dominant, autosomal recessive, X-linked, and <italic>de novo</italic> modes of inheritance were observed.</p></sec><sec><title>Conclusions</title><p>By using next generation sequencing on a cohort of 38 unrelated families with fetal akinesia/hypokinesia, arthrogryposis, or severe congenital myopathy we therefore obtained a genetic diagnosis for 47 % of families. This study highlights the power and capacity of next generation sequencing (i) to determine the aetiology of genetically heterogeneous neuromuscular diseases, (ii) to identify novel disease genes in small pedigrees or isolated cases and (iii) to refine the interplay between genetic diagnosis and clinical evaluation and management.</p></sec><sec><title>Electronic supplementary material</title><p>The online version of this article (doi:10.1186/s13023-015-0364-0) contains supplementary material, which is available to authorized users.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Quinn, Cm" uniqKey="Quinn C">CM Quinn</name></author><author><name sortKey="Wigglesworth, Js" uniqKey="Wigglesworth J">JS Wigglesworth</name></author><author><name sortKey="Heckmatt, J" uniqKey="Heckmatt J">J Heckmatt</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Sollis, E" uniqKey="Sollis E">E Sollis</name></author><author><name sortKey="Charles, Ak" uniqKey="Charles A">AK Charles</name></author><author><name sortKey="North, Kn" uniqKey="North K">KN North</name></author><author><name sortKey="Baynam, G" uniqKey="Baynam G">G Baynam</name></author><author><name sortKey="Laing, Ng" uniqKey="Laing N">NG Laing</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Filges, I" uniqKey="Filges I">I Filges</name></author><author><name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wilbe, M" uniqKey="Wilbe M">M Wilbe</name></author><author><name sortKey="Ekvall, S" uniqKey="Ekvall S">S Ekvall</name></author><author><name sortKey="Eurenius, K" uniqKey="Eurenius K">K Eurenius</name></author><author><name sortKey="Ericson, K" uniqKey="Ericson K">K Ericson</name></author><author><name sortKey="Casar Borota, O" uniqKey="Casar Borota O">O Casar-Borota</name></author><author><name sortKey="Klar, J" uniqKey="Klar J">J Klar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Haliloglu, G" uniqKey="Haliloglu G">G Haliloglu</name></author><author><name sortKey="Topaloglu, H" uniqKey="Topaloglu H">H Topaloglu</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Laquerriere, A" uniqKey="Laquerriere A">A Laquerriere</name></author><author><name sortKey="Maluenda, J" uniqKey="Maluenda J">J Maluenda</name></author><author><name sortKey="Camus, A" uniqKey="Camus A">A Camus</name></author><author><name sortKey="Fontenas, L" uniqKey="Fontenas L">L Fontenas</name></author><author><name sortKey="Dieterich, K" uniqKey="Dieterich K">K Dieterich</name></author><author><name sortKey="Nolent, F" uniqKey="Nolent F">F Nolent</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bamshad, M" uniqKey="Bamshad M">M Bamshad</name></author><author><name sortKey="Jorde, Lb" uniqKey="Jorde L">LB Jorde</name></author><author><name sortKey="Carey, Jc" uniqKey="Carey J">JC Carey</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bamshad, M" uniqKey="Bamshad M">M Bamshad</name></author><author><name sortKey="Van Heest, Ae" uniqKey="Van Heest A">AE Van Heest</name></author><author><name sortKey="Pleasure, D" uniqKey="Pleasure D">D Pleasure</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mcmillin, Mj" uniqKey="Mcmillin M">MJ McMillin</name></author><author><name sortKey="Beck, Ae" uniqKey="Beck A">AE Beck</name></author><author><name sortKey="Chong, Jx" uniqKey="Chong J">JX Chong</name></author><author><name sortKey="Shively, Km" uniqKey="Shively K">KM Shively</name></author><author><name sortKey="Buckingham, Kj" uniqKey="Buckingham K">KJ Buckingham</name></author><author><name sortKey="Gildersleeve, Hi" uniqKey="Gildersleeve H">HI Gildersleeve</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Mcmillin, Mj" uniqKey="Mcmillin M">MJ McMillin</name></author><author><name sortKey="Below, Je" uniqKey="Below J">JE Below</name></author><author><name sortKey="Shively, Km" uniqKey="Shively K">KM Shively</name></author><author><name sortKey="Beck, Ae" uniqKey="Beck A">AE Beck</name></author><author><name sortKey="Gildersleeve, Hi" uniqKey="Gildersleeve H">HI Gildersleeve</name></author><author><name sortKey="Pinner, J" uniqKey="Pinner J">J Pinner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Romero, Nb" uniqKey="Romero N">NB Romero</name></author><author><name sortKey="Clarke, Nf" uniqKey="Clarke N">NF Clarke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Laing, Ng" uniqKey="Laing N">NG Laing</name></author><author><name sortKey="Clarke, Nf" uniqKey="Clarke N">NF Clarke</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Maggi, L" uniqKey="Maggi L">L Maggi</name></author><author><name sortKey="Scoto, M" uniqKey="Scoto M">M Scoto</name></author><author><name sortKey="Cirak, S" uniqKey="Cirak S">S Cirak</name></author><author><name sortKey="Robb, Sa" uniqKey="Robb S">SA Robb</name></author><author><name sortKey="Klein, A" uniqKey="Klein A">A Klein</name></author><author><name sortKey="Lillis, S" uniqKey="Lillis S">S Lillis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nance, Jr" uniqKey="Nance J">JR Nance</name></author><author><name sortKey="Dowling, Jj" uniqKey="Dowling J">JJ Dowling</name></author><author><name sortKey="Gibbs, Em" uniqKey="Gibbs E">EM Gibbs</name></author><author><name sortKey="Bonnemann, Cg" uniqKey="Bonnemann C">CG Bonnemann</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jain, Rk" uniqKey="Jain R">RK Jain</name></author><author><name sortKey="Jayawant, S" uniqKey="Jayawant S">S Jayawant</name></author><author><name sortKey="Squier, W" uniqKey="Squier W">W Squier</name></author><author><name sortKey="Muntoni, F" uniqKey="Muntoni F">F Muntoni</name></author><author><name sortKey="Sewry, Ca" uniqKey="Sewry C">CA Sewry</name></author><author><name sortKey="Manzur, A" uniqKey="Manzur A">A Manzur</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Majczenko, K" uniqKey="Majczenko K">K Majczenko</name></author><author><name sortKey="Davidson, Ae" uniqKey="Davidson A">AE Davidson</name></author><author><name sortKey="Camelo Piragua, S" uniqKey="Camelo Piragua S">S Camelo-Piragua</name></author><author><name sortKey="Agrawal, Pb" uniqKey="Agrawal P">PB Agrawal</name></author><author><name sortKey="Manfready, Ra" uniqKey="Manfready R">RA Manfready</name></author><author><name sortKey="Li, X" uniqKey="Li X">X Li</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Agrawal, Pb" uniqKey="Agrawal P">PB Agrawal</name></author><author><name sortKey="Pierson, Cr" uniqKey="Pierson C">CR Pierson</name></author><author><name sortKey="Joshi, M" uniqKey="Joshi M">M Joshi</name></author><author><name sortKey="Liu, X" uniqKey="Liu X">X Liu</name></author><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Moghadaszadeh, B" uniqKey="Moghadaszadeh B">B Moghadaszadeh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yuen, M" uniqKey="Yuen M">M Yuen</name></author><author><name sortKey="Sandaradura, Sa" uniqKey="Sandaradura S">SA Sandaradura</name></author><author><name sortKey="Dowling, Jj" uniqKey="Dowling J">JJ Dowling</name></author><author><name sortKey="Kostyukova, As" uniqKey="Kostyukova A">AS Kostyukova</name></author><author><name sortKey="Moroz, N" uniqKey="Moroz N">N Moroz</name></author><author><name sortKey="Quinlan, Kg" uniqKey="Quinlan K">KG Quinlan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gupta, Va" uniqKey="Gupta V">VA Gupta</name></author><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Shaheen, R" uniqKey="Shaheen R">R Shaheen</name></author><author><name sortKey="Todd, Ej" uniqKey="Todd E">EJ Todd</name></author><author><name sortKey="Swanson, Lc" uniqKey="Swanson L">LC Swanson</name></author><author><name sortKey="Shiina, M" uniqKey="Shiina M">M Shiina</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Thompson, Em" uniqKey="Thompson E">EM Thompson</name></author><author><name sortKey="Todd, Ej" uniqKey="Todd E">EJ Todd</name></author><author><name sortKey="Yau, Ks" uniqKey="Yau K">KS Yau</name></author><author><name sortKey="Kresoje, N" uniqKey="Kresoje N">N Kresoje</name></author><author><name sortKey="Sivadorai, P" uniqKey="Sivadorai P">P Sivadorai</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Miyatake, S" uniqKey="Miyatake S">S Miyatake</name></author><author><name sortKey="Lehtokari, Vl" uniqKey="Lehtokari V">VL Lehtokari</name></author><author><name sortKey="Todd, Ej" uniqKey="Todd E">EJ Todd</name></author><author><name sortKey="Vornanen, P" uniqKey="Vornanen P">P Vornanen</name></author><author><name sortKey="Yau, Ks" uniqKey="Yau K">KS Yau</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kaplan, Jc" uniqKey="Kaplan J">JC Kaplan</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cabrera Serrano, M" uniqKey="Cabrera Serrano M">M Cabrera-Serrano</name></author><author><name sortKey="Ghaoui, R" uniqKey="Ghaoui R">R Ghaoui</name></author><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Johnsen, Rd" uniqKey="Johnsen R">RD Johnsen</name></author><author><name sortKey="Davis, Mr" uniqKey="Davis M">MR Davis</name></author><author><name sortKey="Corbett, A" uniqKey="Corbett A">A Corbett</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Clarke, L" uniqKey="Clarke L">L Clarke</name></author><author><name sortKey="Zheng Bradley, X" uniqKey="Zheng Bradley X">X Zheng-Bradley</name></author><author><name sortKey="Smith, R" uniqKey="Smith R">R Smith</name></author><author><name sortKey="Kulesha, E" uniqKey="Kulesha E">E Kulesha</name></author><author><name sortKey="Xiao, C" uniqKey="Xiao C">C Xiao</name></author><author><name sortKey="Toneva, I" uniqKey="Toneva I">I Toneva</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Flanagan, Se" uniqKey="Flanagan S">SE Flanagan</name></author><author><name sortKey="Patch, Am" uniqKey="Patch A">AM Patch</name></author><author><name sortKey="Ellard, S" uniqKey="Ellard S">S Ellard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Schwarz, Jm" uniqKey="Schwarz J">JM Schwarz</name></author><author><name sortKey="Cooper, Dn" uniqKey="Cooper D">DN Cooper</name></author><author><name sortKey="Schuelke, M" uniqKey="Schuelke M">M Schuelke</name></author><author><name sortKey="Seelow, D" uniqKey="Seelow D">D Seelow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Nolent, F" uniqKey="Nolent F">F Nolent</name></author><author><name sortKey="Rajagopalan, S" uniqKey="Rajagopalan S">S Rajagopalan</name></author><author><name sortKey="Meireles, Am" uniqKey="Meireles A">AM Meireles</name></author><author><name sortKey="Paavola, Kj" uniqKey="Paavola K">KJ Paavola</name></author><author><name sortKey="Gaillard, D" uniqKey="Gaillard D">D Gaillard</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Flex, E" uniqKey="Flex E">E Flex</name></author><author><name sortKey="De Luca, A" uniqKey="De Luca A">A De Luca</name></author><author><name sortKey="D Pice, Mr" uniqKey="D Pice M">MR D’Apice</name></author><author><name sortKey="Buccino, A" uniqKey="Buccino A">A Buccino</name></author><author><name sortKey="Dallapiccola, B" uniqKey="Dallapiccola B">B Dallapiccola</name></author><author><name sortKey="Novelli, G" uniqKey="Novelli G">G Novelli</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Laporte, J" uniqKey="Laporte J">J Laporte</name></author><author><name sortKey="Hu, Lj" uniqKey="Hu L">LJ Hu</name></author><author><name sortKey="Kretz, C" uniqKey="Kretz C">C Kretz</name></author><author><name sortKey="Mandel, Jl" uniqKey="Mandel J">JL Mandel</name></author><author><name sortKey="Kioschis, P" uniqKey="Kioschis P">P Kioschis</name></author><author><name sortKey="Coy, Jf" uniqKey="Coy J">JF Coy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Monnier, N" uniqKey="Monnier N">N Monnier</name></author><author><name sortKey="Marty, I" uniqKey="Marty I">I Marty</name></author><author><name sortKey="Faure, J" uniqKey="Faure J">J Faure</name></author><author><name sortKey="Castiglioni, C" uniqKey="Castiglioni C">C Castiglioni</name></author><author><name sortKey="Desnuelle, C" uniqKey="Desnuelle C">C Desnuelle</name></author><author><name sortKey="Sacconi, S" uniqKey="Sacconi S">S Sacconi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kossugue, Pm" uniqKey="Kossugue P">PM Kossugue</name></author><author><name sortKey="Paim, Jf" uniqKey="Paim J">JF Paim</name></author><author><name sortKey="Navarro, Mm" uniqKey="Navarro M">MM Navarro</name></author><author><name sortKey="Silva, Hc" uniqKey="Silva H">HC Silva</name></author><author><name sortKey="Pavanello, Rc" uniqKey="Pavanello R">RC Pavanello</name></author><author><name sortKey="Gurgel Giannetti, J" uniqKey="Gurgel Giannetti J">J Gurgel-Giannetti</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Zhou, H" uniqKey="Zhou H">H Zhou</name></author><author><name sortKey="Lillis, S" uniqKey="Lillis S">S Lillis</name></author><author><name sortKey="Loy, Re" uniqKey="Loy R">RE Loy</name></author><author><name sortKey="Ghassemi, F" uniqKey="Ghassemi F">F Ghassemi</name></author><author><name sortKey="Rose, Mr" uniqKey="Rose M">MR Rose</name></author><author><name sortKey="Norwood, F" uniqKey="Norwood F">F Norwood</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Von Der Hagen, M" uniqKey="Von Der Hagen M">M von der Hagen</name></author><author><name sortKey="Kress, W" uniqKey="Kress W">W Kress</name></author><author><name sortKey="Hahn, G" uniqKey="Hahn G">G Hahn</name></author><author><name sortKey="Brocke, Ks" uniqKey="Brocke K">KS Brocke</name></author><author><name sortKey="Mitzscherling, P" uniqKey="Mitzscherling P">P Mitzscherling</name></author><author><name sortKey="Huebner, A" uniqKey="Huebner A">A Huebner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Robinson, R" uniqKey="Robinson R">R Robinson</name></author><author><name sortKey="Carpenter, D" uniqKey="Carpenter D">D Carpenter</name></author><author><name sortKey="Shaw, Ma" uniqKey="Shaw M">MA Shaw</name></author><author><name sortKey="Halsall, J" uniqKey="Halsall J">J Halsall</name></author><author><name sortKey="Hopkins, P" uniqKey="Hopkins P">P Hopkins</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Amburgey, K" uniqKey="Amburgey K">K Amburgey</name></author><author><name sortKey="Bailey, A" uniqKey="Bailey A">A Bailey</name></author><author><name sortKey="Hwang, Jh" uniqKey="Hwang J">JH Hwang</name></author><author><name sortKey="Tarnopolsky, Ma" uniqKey="Tarnopolsky M">MA Tarnopolsky</name></author><author><name sortKey="Bonnemann, Cg" uniqKey="Bonnemann C">CG Bonnemann</name></author><author><name sortKey="Medne, L" uniqKey="Medne L">L Medne</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bharucha Goebel, Dx" uniqKey="Bharucha Goebel D">DX Bharucha-Goebel</name></author><author><name sortKey="Santi, M" uniqKey="Santi M">M Santi</name></author><author><name sortKey="Medne, L" uniqKey="Medne L">L Medne</name></author><author><name sortKey="Zukosky, K" uniqKey="Zukosky K">K Zukosky</name></author><author><name sortKey="Dastgir, J" uniqKey="Dastgir J">J Dastgir</name></author><author><name sortKey="Shieh, Pb" uniqKey="Shieh P">PB Shieh</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lehtokari, Vl" uniqKey="Lehtokari V">VL Lehtokari</name></author><author><name sortKey="Kiiski, K" uniqKey="Kiiski K">K Kiiski</name></author><author><name sortKey="Sandaradura, Sa" uniqKey="Sandaradura S">SA Sandaradura</name></author><author><name sortKey="Laporte, J" uniqKey="Laporte J">J Laporte</name></author><author><name sortKey="Repo, P" uniqKey="Repo P">P Repo</name></author><author><name sortKey="Frey, Ja" uniqKey="Frey J">JA Frey</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Wallgren Pettersson, C" uniqKey="Wallgren Pettersson C">C Wallgren-Pettersson</name></author><author><name sortKey="Donner, K" uniqKey="Donner K">K Donner</name></author><author><name sortKey="Sewry, C" uniqKey="Sewry C">C Sewry</name></author><author><name sortKey="Bijlsma, E" uniqKey="Bijlsma E">E Bijlsma</name></author><author><name sortKey="Lammens, M" uniqKey="Lammens M">M Lammens</name></author><author><name sortKey="Bushby, K" uniqKey="Bushby K">K Bushby</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lehtokari, Vl" uniqKey="Lehtokari V">VL Lehtokari</name></author><author><name sortKey="Pelin, K" uniqKey="Pelin K">K Pelin</name></author><author><name sortKey="Sandbacka, M" uniqKey="Sandbacka M">M Sandbacka</name></author><author><name sortKey="Ranta, S" uniqKey="Ranta S">S Ranta</name></author><author><name sortKey="Donner, K" uniqKey="Donner K">K Donner</name></author><author><name sortKey="Muntoni, F" uniqKey="Muntoni F">F Muntoni</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lehtokari, Vl" uniqKey="Lehtokari V">VL Lehtokari</name></author><author><name sortKey="Greenleaf, Rs" uniqKey="Greenleaf R">RS Greenleaf</name></author><author><name sortKey="Dechene, Et" uniqKey="Dechene E">ET DeChene</name></author><author><name sortKey="Kellinsalmi, M" uniqKey="Kellinsalmi M">M Kellinsalmi</name></author><author><name sortKey="Pelin, K" uniqKey="Pelin K">K Pelin</name></author><author><name sortKey="Laing, Ng" uniqKey="Laing N">NG Laing</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Anderson, Sl" uniqKey="Anderson S">SL Anderson</name></author><author><name sortKey="Ekstein, J" uniqKey="Ekstein J">J Ekstein</name></author><author><name sortKey="Donnelly, Mc" uniqKey="Donnelly M">MC Donnelly</name></author><author><name sortKey="Keefe, Em" uniqKey="Keefe E">EM Keefe</name></author><author><name sortKey="Toto, Nr" uniqKey="Toto N">NR Toto</name></author><author><name sortKey="Levoci, La" uniqKey="Levoci L">LA LeVoci</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kiiski, K" uniqKey="Kiiski K">K Kiiski</name></author><author><name sortKey="Laari, L" uniqKey="Laari L">L Laari</name></author><author><name sortKey="Lehtokari, Vl" uniqKey="Lehtokari V">VL Lehtokari</name></author><author><name sortKey="Lunkka Hytonen, M" uniqKey="Lunkka Hytonen M">M Lunkka-Hytonen</name></author><author><name sortKey="Angelini, C" uniqKey="Angelini C">C Angelini</name></author><author><name sortKey="Petty, R" uniqKey="Petty R">R Petty</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Brownlow, S" uniqKey="Brownlow S">S Brownlow</name></author><author><name sortKey="Webster, R" uniqKey="Webster R">R Webster</name></author><author><name sortKey="Croxen, R" uniqKey="Croxen R">R Croxen</name></author><author><name sortKey="Brydson, M" uniqKey="Brydson M">M Brydson</name></author><author><name sortKey="Neville, B" uniqKey="Neville B">B Neville</name></author><author><name sortKey="Lin, Jp" uniqKey="Lin J">JP Lin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gomez, Cm" uniqKey="Gomez C">CM Gomez</name></author><author><name sortKey="Maselli, Ra" uniqKey="Maselli R">RA Maselli</name></author><author><name sortKey="Vohra, Bp" uniqKey="Vohra B">BP Vohra</name></author><author><name sortKey="Navedo, M" uniqKey="Navedo M">M Navedo</name></author><author><name sortKey="Stiles, Jr" uniqKey="Stiles J">JR Stiles</name></author><author><name sortKey="Charnet, P" uniqKey="Charnet P">P Charnet</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Muller, Js" uniqKey="Muller J">JS Muller</name></author><author><name sortKey="Baumeister, Sk" uniqKey="Baumeister S">SK Baumeister</name></author><author><name sortKey="Schara, U" uniqKey="Schara U">U Schara</name></author><author><name sortKey="Cossins, J" uniqKey="Cossins J">J Cossins</name></author><author><name sortKey="Krause, S" uniqKey="Krause S">S Krause</name></author><author><name sortKey="Von Der Hagen, M" uniqKey="Von Der Hagen M">M von der Hagen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Michalk, A" uniqKey="Michalk A">A Michalk</name></author><author><name sortKey="Stricker, S" uniqKey="Stricker S">S Stricker</name></author><author><name sortKey="Becker, J" uniqKey="Becker J">J Becker</name></author><author><name sortKey="Rupps, R" uniqKey="Rupps R">R Rupps</name></author><author><name sortKey="Pantzar, T" uniqKey="Pantzar T">T Pantzar</name></author><author><name sortKey="Miertus, J" uniqKey="Miertus J">J Miertus</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Shen, Xm" uniqKey="Shen X">XM Shen</name></author><author><name sortKey="Ohno, K" uniqKey="Ohno K">K Ohno</name></author><author><name sortKey="Fukudome, T" uniqKey="Fukudome T">T Fukudome</name></author><author><name sortKey="Tsujino, A" uniqKey="Tsujino A">A Tsujino</name></author><author><name sortKey="Brengman, Jm" uniqKey="Brengman J">JM Brengman</name></author><author><name sortKey="De Vivo, Dc" uniqKey="De Vivo D">DC De Vivo</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Morgan, Nv" uniqKey="Morgan N">NV Morgan</name></author><author><name sortKey="Brueton, La" uniqKey="Brueton L">LA Brueton</name></author><author><name sortKey="Cox, P" uniqKey="Cox P">P Cox</name></author><author><name sortKey="Greally, Mt" uniqKey="Greally M">MT Greally</name></author><author><name sortKey="Tolmie, J" uniqKey="Tolmie J">J Tolmie</name></author><author><name sortKey="Pasha, S" uniqKey="Pasha S">S Pasha</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Robinson, Kg" uniqKey="Robinson K">KG Robinson</name></author><author><name sortKey="Viereck, Mj" uniqKey="Viereck M">MJ Viereck</name></author><author><name sortKey="Margiotta, Mv" uniqKey="Margiotta M">MV Margiotta</name></author><author><name sortKey="Gripp, Kw" uniqKey="Gripp K">KW Gripp</name></author><author><name sortKey="Abdul Rahman, Oa" uniqKey="Abdul Rahman O">OA Abdul-Rahman</name></author><author><name sortKey="Akins, Re" uniqKey="Akins R">RE Akins</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Toydemir, Rm" uniqKey="Toydemir R">RM Toydemir</name></author><author><name sortKey="Rutherford, A" uniqKey="Rutherford A">A Rutherford</name></author><author><name sortKey="Whitby, Fg" uniqKey="Whitby F">FG Whitby</name></author><author><name sortKey="Jorde, Lb" uniqKey="Jorde L">LB Jorde</name></author><author><name sortKey="Carey, Jc" uniqKey="Carey J">JC Carey</name></author><author><name sortKey="Bamshad, Mj" uniqKey="Bamshad M">MJ Bamshad</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Barnett, Cp" uniqKey="Barnett C">CP Barnett</name></author><author><name sortKey="Todd, Ej" uniqKey="Todd E">EJ Todd</name></author><author><name sortKey="Ong, R" uniqKey="Ong R">R Ong</name></author><author><name sortKey="Davis, Mr" uniqKey="Davis M">MR Davis</name></author><author><name sortKey="Atkinson, V" uniqKey="Atkinson V">V Atkinson</name></author><author><name sortKey="Allcock, R" uniqKey="Allcock R">R Allcock</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Dieterich, K" uniqKey="Dieterich K">K Dieterich</name></author><author><name sortKey="Quijano Roy, S" uniqKey="Quijano Roy S">S Quijano-Roy</name></author><author><name sortKey="Monnier, N" uniqKey="Monnier N">N Monnier</name></author><author><name sortKey="Zhou, J" uniqKey="Zhou J">J Zhou</name></author><author><name sortKey="Faure, J" uniqKey="Faure J">J Faure</name></author><author><name sortKey="Smirnow, Da" uniqKey="Smirnow D">DA Smirnow</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Monk, Kr" uniqKey="Monk K">KR Monk</name></author><author><name sortKey="Oshima, K" uniqKey="Oshima K">K Oshima</name></author><author><name sortKey="Jors, S" uniqKey="Jors S">S Jors</name></author><author><name sortKey="Heller, S" uniqKey="Heller S">S Heller</name></author><author><name sortKey="Talbot, Ws" uniqKey="Talbot W">WS Talbot</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chong, Jx" uniqKey="Chong J">JX Chong</name></author><author><name sortKey="Mcmillin, Mj" uniqKey="Mcmillin M">MJ McMillin</name></author><author><name sortKey="Shively, Km" uniqKey="Shively K">KM Shively</name></author><author><name sortKey="Beck, Ae" uniqKey="Beck A">AE Beck</name></author><author><name sortKey="Marvin, Ct" uniqKey="Marvin C">CT Marvin</name></author><author><name sortKey="Armenteros, Jr" uniqKey="Armenteros J">JR Armenteros</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rossor, Am" uniqKey="Rossor A">AM Rossor</name></author><author><name sortKey="Oates, Ec" uniqKey="Oates E">EC Oates</name></author><author><name sortKey="Salter, Hk" uniqKey="Salter H">HK Salter</name></author><author><name sortKey="Liu, Y" uniqKey="Liu Y">Y Liu</name></author><author><name sortKey="Murphy, Sm" uniqKey="Murphy S">SM Murphy</name></author><author><name sortKey="Schule, R" uniqKey="Schule R">R Schule</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Ankala, A" uniqKey="Ankala A">A Ankala</name></author><author><name sortKey="Da Silva, C" uniqKey="Da Silva C">C Da Silva</name></author><author><name sortKey="Gualandi, F" uniqKey="Gualandi F">F Gualandi</name></author><author><name sortKey="Ferlini, A" uniqKey="Ferlini A">A Ferlini</name></author><author><name sortKey="Bean, Lj" uniqKey="Bean L">LJ Bean</name></author><author><name sortKey="Collins, C" uniqKey="Collins C">C Collins</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Alazami, Am" uniqKey="Alazami A">AM Alazami</name></author><author><name sortKey="Patel, N" uniqKey="Patel N">N Patel</name></author><author><name sortKey="Shamseldin, He" uniqKey="Shamseldin H">HE Shamseldin</name></author><author><name sortKey="Anazi, S" uniqKey="Anazi S">S Anazi</name></author><author><name sortKey="Al Dosari, Ms" uniqKey="Al Dosari M">MS Al-Dosari</name></author><author><name sortKey="Alzahrani, F" uniqKey="Alzahrani F">F Alzahrani</name></author></analytic></biblStruct><biblStruct></biblStruct><biblStruct><analytic><author><name sortKey="Alazami, Am" uniqKey="Alazami A">AM Alazami</name></author><author><name sortKey="Kentab, Ay" uniqKey="Kentab A">AY Kentab</name></author><author><name sortKey="Faqeih, E" uniqKey="Faqeih E">E Faqeih</name></author><author><name sortKey="Mohamed, Jy" uniqKey="Mohamed J">JY Mohamed</name></author><author><name sortKey="Alkhalidi, H" uniqKey="Alkhalidi H">H Alkhalidi</name></author><author><name sortKey="Hijazi, H" uniqKey="Hijazi H">H Hijazi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Garg, A" uniqKey="Garg A">A Garg</name></author><author><name sortKey="O Ourke, J" uniqKey="O Ourke J">J O’Rourke</name></author><author><name sortKey="Long, C" uniqKey="Long C">C Long</name></author><author><name sortKey="Doering, J" uniqKey="Doering J">J Doering</name></author><author><name sortKey="Ravenscroft, G" uniqKey="Ravenscroft G">G Ravenscroft</name></author><author><name sortKey="Bezprozvannaya, S" uniqKey="Bezprozvannaya S">S Bezprozvannaya</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Cenik, Bk" uniqKey="Cenik B">BK Cenik</name></author><author><name sortKey="Garg, A" uniqKey="Garg A">A Garg</name></author><author><name sortKey="Mcanally, Jr" uniqKey="Mcanally J">JR McAnally</name></author><author><name sortKey="Shelton, Jm" uniqKey="Shelton J">JM Shelton</name></author><author><name sortKey="Richardson, Ja" uniqKey="Richardson J">JA Richardson</name></author><author><name sortKey="Bassel Duby, R" uniqKey="Bassel Duby R">R Bassel-Duby</name></author></analytic></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Australie</li><li>France</li><li>Iran</li><li>Royaume-Uni</li><li>Turquie</li></country><region><li>Angleterre</li><li>Nouvelle-Galles du Sud</li><li>Oxfordshire</li><li>Île-de-France</li></region><settlement><li>Oxford</li><li>Paris</li></settlement><orgName><li>Université d'Oxford</li></orgName></list><tree><noCountry><name sortKey="Allcock, Richard J N" sort="Allcock, Richard J N" uniqKey="Allcock R" first="Richard J. N." last="Allcock">Richard J. N. Allcock</name><name sortKey="Barnett, Christopher P" sort="Barnett, Christopher P" uniqKey="Barnett C" first="Christopher P." last="Barnett">Christopher P. Barnett</name><name sortKey="Cairns, Anita" sort="Cairns, Anita" uniqKey="Cairns A" first="Anita" last="Cairns">Anita Cairns</name><name sortKey="Davis, Mark R" sort="Davis, Mark R" uniqKey="Davis M" first="Mark R." last="Davis">Mark R. Davis</name><name sortKey="Kiraly Borri, Cathy" sort="Kiraly Borri, Cathy" uniqKey="Kiraly Borri C" first="Cathy" last="Kiraly-Borri">Cathy Kiraly-Borri</name><name sortKey="Laing, Nigel G" sort="Laing, Nigel G" uniqKey="Laing N" first="Nigel G." last="Laing">Nigel G. Laing</name><name sortKey="Mcgillivray, George" sort="Mcgillivray, George" uniqKey="Mcgillivray G" first="George" last="Mcgillivray">George Mcgillivray</name><name sortKey="Ong, Royston" sort="Ong, Royston" uniqKey="Ong R" first="Royston" last="Ong">Royston Ong</name><name sortKey="Ravenscroft, Gianina" sort="Ravenscroft, Gianina" uniqKey="Ravenscroft G" first="Gianina" last="Ravenscroft">Gianina Ravenscroft</name><name sortKey="Ryan, Monique M" sort="Ryan, Monique M" uniqKey="Ryan M" first="Monique M." last="Ryan">Monique M. Ryan</name><name sortKey="Sewry, Caroline A" sort="Sewry, Caroline A" uniqKey="Sewry C" first="Caroline A" last="Sewry">Caroline A. Sewry</name><name sortKey="Sivadorai, Padma" sort="Sivadorai, Padma" uniqKey="Sivadorai P" first="Padma" last="Sivadorai">Padma Sivadorai</name><name sortKey="Slee, Jennie" sort="Slee, Jennie" uniqKey="Slee J" first="Jennie" last="Slee">Jennie Slee</name><name sortKey="Todd, Emily J" sort="Todd, Emily J" uniqKey="Todd E" first="Emily J." last="Todd">Emily J. Todd</name><name sortKey="Williams, Denise" sort="Williams, Denise" uniqKey="Williams D" first="Denise" last="Williams">Denise Williams</name><name sortKey="Yau, Kyle S" sort="Yau, Kyle S" uniqKey="Yau K" first="Kyle S." last="Yau">Kyle S. Yau</name></noCountry><country name="Turquie"><noRegion><name sortKey="Haliloglu, Goknur" sort="Haliloglu, Goknur" uniqKey="Haliloglu G" first="Goknur" last="Haliloglu">Goknur Haliloglu</name></noRegion><name sortKey="Akcoren, Zuhal" sort="Akcoren, Zuhal" uniqKey="Akcoren Z" first="Zuhal" last="Akcoren">Zuhal Akcoren</name><name sortKey="Talim, Beril" sort="Talim, Beril" uniqKey="Talim B" first="Beril" last="Talim">Beril Talim</name></country><country name="Iran"><noRegion><name sortKey="Kariminejad, Ariana" sort="Kariminejad, Ariana" uniqKey="Kariminejad A" first="Ariana" last="Kariminejad">Ariana Kariminejad</name></noRegion></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name></region><name sortKey="Clarke, Nigel F" sort="Clarke, Nigel F" uniqKey="Clarke N" first="Nigel F." last="Clarke">Nigel F. Clarke</name><name sortKey="Colley, Alison" sort="Colley, Alison" uniqKey="Colley A" first="Alison" last="Colley">Alison Colley</name><name sortKey="Freckmann, Mary Louise" sort="Freckmann, Mary Louise" uniqKey="Freckmann M" first="Mary-Louise" last="Freckmann">Mary-Louise Freckmann</name></country><country name="France"><region name="Île-de-France"><name sortKey="Romero, Norma B" sort="Romero, Norma B" uniqKey="Romero N" first="Norma B." last="Romero">Norma B. Romero</name></region></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Beeson, David" sort="Beeson, David" uniqKey="Beeson D" first="David" last="Beeson">David Beeson</name></region><name sortKey="Maxwell, Susan" sort="Maxwell, Susan" uniqKey="Maxwell S" first="Susan" last="Maxwell">Susan Maxwell</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 002A88 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 002A88 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4650299
|texte= Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:26578207" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |