The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Identifieur interne : 000214 ( PubMed/Checkpoint ); précédent : 000213; suivant : 000215The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.
Auteurs : Caroline E. Walker [Australie] ; Trinity Mahede [Australie] ; Geoff Davis [Australie] ; Laura J. Miller [Australie] ; Jennifer Girschik [Australie] ; Kate Brameld [Australie] ; Wenxing Sun [Australie] ; Ana Rath [France] ; Ségolène Aymé [France] ; Stephen R. Zubrick [Australie] ; Gareth S. Baynam [Australie] ; Caron Molster [Australie] ; Hugh J S. Dawkins [Australie] ; Tarun S. Weeramanthri [Australie]Source :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2017.
Abstract
It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.
DOI: 10.1038/gim.2016.143
PubMed: 27657686
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.</title><author><name sortKey="Walker, Caroline E" sort="Walker, Caroline E" uniqKey="Walker C" first="Caroline E" last="Walker">Caroline E. Walker</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Mahede, Trinity" sort="Mahede, Trinity" uniqKey="Mahede T" first="Trinity" last="Mahede">Trinity Mahede</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Davis, Geoff" sort="Davis, Geoff" uniqKey="Davis G" first="Geoff" last="Davis">Geoff Davis</name><affiliation wicri:level="1"><nlm:affiliation>Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Miller, Laura J" sort="Miller, Laura J" uniqKey="Miller L" first="Laura J" last="Miller">Laura J. Miller</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Girschik, Jennifer" sort="Girschik, Jennifer" uniqKey="Girschik J" first="Jennifer" last="Girschik">Jennifer Girschik</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Brameld, Kate" sort="Brameld, Kate" uniqKey="Brameld K" first="Kate" last="Brameld">Kate Brameld</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Population Health Research, Curtin University, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Population Health Research, Curtin University, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Sun, Wenxing" sort="Sun, Wenxing" uniqKey="Sun W" first="Wenxing" last="Sun">Wenxing Sun</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, US14, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, US14, 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="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, US14, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, US14, 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="Zubrick, Stephen R" sort="Zubrick, Stephen R" uniqKey="Zubrick S" first="Stephen R" last="Zubrick">Stephen R. Zubrick</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Education, University of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Education, University of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Baynam, Gareth S" sort="Baynam, Gareth S" uniqKey="Baynam G" first="Gareth S" last="Baynam">Gareth S. Baynam</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Dawkins, Hugh J S" sort="Dawkins, Hugh J S" uniqKey="Dawkins H" first="Hugh J S" last="Dawkins">Hugh J S. Dawkins</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Weeramanthri, Tarun S" sort="Weeramanthri, Tarun S" uniqKey="Weeramanthri T" first="Tarun S" last="Weeramanthri">Tarun S. Weeramanthri</name><affiliation wicri:level="1"><nlm:affiliation>Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:27657686</idno><idno type="pmid">27657686</idno><idno type="doi">10.1038/gim.2016.143</idno><idno type="wicri:Area/PubMed/Corpus">000D40</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000D40</idno><idno type="wicri:Area/PubMed/Curation">000D37</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000D37</idno><idno type="wicri:Area/PubMed/Checkpoint">000D37</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000D37</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.</title><author><name sortKey="Walker, Caroline E" sort="Walker, Caroline E" uniqKey="Walker C" first="Caroline E" last="Walker">Caroline E. Walker</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Mahede, Trinity" sort="Mahede, Trinity" uniqKey="Mahede T" first="Trinity" last="Mahede">Trinity Mahede</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Davis, Geoff" sort="Davis, Geoff" uniqKey="Davis G" first="Geoff" last="Davis">Geoff Davis</name><affiliation wicri:level="1"><nlm:affiliation>Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Miller, Laura J" sort="Miller, Laura J" uniqKey="Miller L" first="Laura J" last="Miller">Laura J. Miller</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Girschik, Jennifer" sort="Girschik, Jennifer" uniqKey="Girschik J" first="Jennifer" last="Girschik">Jennifer Girschik</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Brameld, Kate" sort="Brameld, Kate" uniqKey="Brameld K" first="Kate" last="Brameld">Kate Brameld</name><affiliation wicri:level="1"><nlm:affiliation>Centre for Population Health Research, Curtin University, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Population Health Research, Curtin University, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Sun, Wenxing" sort="Sun, Wenxing" uniqKey="Sun W" first="Wenxing" last="Sun">Wenxing Sun</name><affiliation wicri:level="1"><nlm:affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, US14, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, US14, 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="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name><affiliation wicri:level="3"><nlm:affiliation>INSERM, US14, Paris, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>INSERM, US14, 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="Zubrick, Stephen R" sort="Zubrick, Stephen R" uniqKey="Zubrick S" first="Stephen R" last="Zubrick">Stephen R. Zubrick</name><affiliation wicri:level="1"><nlm:affiliation>Faculty of Education, University of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Faculty of Education, University of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Baynam, Gareth S" sort="Baynam, Gareth S" uniqKey="Baynam G" first="Gareth S" last="Baynam">Gareth S. Baynam</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Dawkins, Hugh J S" sort="Dawkins, Hugh J S" uniqKey="Dawkins H" first="Hugh J S" last="Dawkins">Hugh J S. Dawkins</name><affiliation wicri:level="1"><nlm:affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author><author><name sortKey="Weeramanthri, Tarun S" sort="Weeramanthri, Tarun S" uniqKey="Weeramanthri T" first="Tarun S" last="Weeramanthri">Tarun S. Weeramanthri</name><affiliation wicri:level="1"><nlm:affiliation>Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Public Health Division, Department of Health, Government of Western Australia, Perth</wicri:regionArea><wicri:noRegion>Perth</wicri:noRegion></affiliation></author></analytic><series><title level="j">Genetics in medicine : official journal of the American College of Medical Genetics</title><idno type="eISSN">1530-0366</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.</div></front></TEI><pubmed><MedlineCitation Status="In-Process" Owner="NLM"><PMID Version="1">27657686</PMID><DateCreated><Year>2016</Year><Month>09</Month><Day>22</Day></DateCreated><DateRevised><Year>2017</Year><Month>06</Month><Day>04</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1530-0366</ISSN><JournalIssue CitedMedium="Internet"><Volume>19</Volume><Issue>5</Issue><PubDate><Year>2017</Year><Month>May</Month></PubDate></JournalIssue><Title>Genetics in medicine : official journal of the American College of Medical Genetics</Title><ISOAbbreviation>Genet. Med.</ISOAbbreviation></Journal><ArticleTitle>The collective impact of rare diseases in Western Australia: an estimate using a population-based cohort.</ArticleTitle><Pagination><MedlinePgn>546-552</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1038/gim.2016.143</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">It has been argued that rare diseases should be recognized as a public health priority. However, there is a shortage of epidemiological data describing the true burden of rare diseases. This study investigated hospital service use to provide a better understanding of the collective health and economic impacts of rare diseases.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Novel methodology was developed using a carefully constructed set of diagnostic codes, a selection of rare disease cohorts from hospital administrative data, and advanced data-linkage technologies. Outcomes included health-service use and hospital admission costs.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">In 2010, cohort members who were alive represented approximately 2.0% of the Western Australian population. The cohort accounted for 4.6% of people discharged from hospital and 9.9% of hospital discharges, and it had a greater average length of stay than the general population. The total cost of hospital discharges for the cohort represented 10.5% of 2010 state inpatient hospital costs.</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">This population-based cohort study provides strong new evidence of a marked disparity between the proportion of the population with rare diseases and their combined health-system costs. The methodology will inform future rare-disease studies, and the evidence will guide government strategies for managing the service needs of people living with rare diseases.Genet Med advance online publication 22 September 2016.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Walker</LastName><ForeName>Caroline E</ForeName><Initials>CE</Initials><Identifier Source="ORCID">http://orcid.org/0000-0001-5917-6519</Identifier><AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Mahede</LastName><ForeName>Trinity</ForeName><Initials>T</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-2103-4168</Identifier><AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Davis</LastName><ForeName>Geoff</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Data Linkage Branch, Purchasing and System Performance, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Miller</LastName><ForeName>Laura J</ForeName><Initials>LJ</Initials><AffiliationInfo><Affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Girschik</LastName><ForeName>Jennifer</ForeName><Initials>J</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-6826-1886</Identifier><AffiliationInfo><Affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Brameld</LastName><ForeName>Kate</ForeName><Initials>K</Initials><AffiliationInfo><Affiliation>Centre for Population Health Research, Curtin University, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Sun</LastName><ForeName>Wenxing</ForeName><Initials>W</Initials><AffiliationInfo><Affiliation>Epidemiology Branch, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Rath</LastName><ForeName>Ana</ForeName><Initials>A</Initials><Identifier Source="ORCID">http://orcid.org/0000-0003-4308-6337</Identifier><AffiliationInfo><Affiliation>INSERM, US14, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Aymé</LastName><ForeName>Ségolène</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>INSERM, US14, Paris, France.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zubrick</LastName><ForeName>Stephen R</ForeName><Initials>SR</Initials><AffiliationInfo><Affiliation>Faculty of Education, University of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Telethon Kids Institute, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Baynam</LastName><ForeName>Gareth S</ForeName><Initials>GS</Initials><AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Telethon Kids Institute, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Genetic Services WA, King Edward Memorial Hospital, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Paediatrics and Child Health, University of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Institute of Immunology and Infectious Diseases, Murdoch University, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Molster</LastName><ForeName>Caron</ForeName><Initials>C</Initials><AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dawkins</LastName><ForeName>Hugh J S</ForeName><Initials>HJS</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-6324-4075</Identifier><AffiliationInfo><Affiliation>Office of Population Health Genomics, Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre for Population Health Research, Curtin University, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo><AffiliationInfo><Affiliation>Centre for Comparative Genomics, Murdoch University, Perth, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Weeramanthri</LastName><ForeName>Tarun S</ForeName><Initials>TS</Initials><AffiliationInfo><Affiliation>Public Health Division, Department of Health, Government of Western Australia, Perth, Australia.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate 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Version="1">20824436</PMID></CommentsCorrections></CommentsCorrectionsList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2016</Year><Month>04</Month><Day>14</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2016</Year><Month>08</Month><Day>02</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2016</Year><Month>9</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>9</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2016</Year><Month>9</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">27657686</ArticleId><ArticleId IdType="pii">gim2016143</ArticleId><ArticleId IdType="doi">10.1038/gim.2016.143</ArticleId><ArticleId IdType="pmc">PMC5440569</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li><li>France</li></country><region><li>Île-de-France</li></region><settlement><li>Paris</li></settlement></list><tree><country name="Australie"><noRegion><name sortKey="Walker, Caroline E" sort="Walker, Caroline E" uniqKey="Walker C" first="Caroline E" last="Walker">Caroline E. Walker</name></noRegion><name sortKey="Baynam, Gareth S" sort="Baynam, Gareth S" uniqKey="Baynam G" first="Gareth S" last="Baynam">Gareth S. Baynam</name><name sortKey="Brameld, Kate" sort="Brameld, Kate" uniqKey="Brameld K" first="Kate" last="Brameld">Kate Brameld</name><name sortKey="Davis, Geoff" sort="Davis, Geoff" uniqKey="Davis G" first="Geoff" last="Davis">Geoff Davis</name><name sortKey="Dawkins, Hugh J S" sort="Dawkins, Hugh J S" uniqKey="Dawkins H" first="Hugh J S" last="Dawkins">Hugh J S. Dawkins</name><name sortKey="Girschik, Jennifer" sort="Girschik, Jennifer" uniqKey="Girschik J" first="Jennifer" last="Girschik">Jennifer Girschik</name><name sortKey="Mahede, Trinity" sort="Mahede, Trinity" uniqKey="Mahede T" first="Trinity" last="Mahede">Trinity Mahede</name><name sortKey="Miller, Laura J" sort="Miller, Laura J" uniqKey="Miller L" first="Laura J" last="Miller">Laura J. Miller</name><name sortKey="Molster, Caron" sort="Molster, Caron" uniqKey="Molster C" first="Caron" last="Molster">Caron Molster</name><name sortKey="Sun, Wenxing" sort="Sun, Wenxing" uniqKey="Sun W" first="Wenxing" last="Sun">Wenxing Sun</name><name sortKey="Weeramanthri, Tarun S" sort="Weeramanthri, Tarun S" uniqKey="Weeramanthri T" first="Tarun S" last="Weeramanthri">Tarun S. Weeramanthri</name><name sortKey="Zubrick, Stephen R" sort="Zubrick, Stephen R" uniqKey="Zubrick S" first="Stephen R" last="Zubrick">Stephen R. Zubrick</name></country><country name="France"><region name="Île-de-France"><name sortKey="Rath, Ana" sort="Rath, Ana" uniqKey="Rath A" first="Ana" last="Rath">Ana Rath</name></region><name sortKey="Ayme, Segolene" sort="Ayme, Segolene" uniqKey="Ayme S" first="Ségolène" last="Aymé">Ségolène Aymé</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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