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Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Identifieur interne : 000918 ( Main/Exploration ); précédent : 000917; suivant : 000919

Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly

Auteurs : Patrick Rump [Pays-Bas] ; Omid Jazayeri [Pays-Bas] ; Krista K. Van Dijk-Bos [Pays-Bas] ; Lennart F. Johansson [Pays-Bas] ; Anthonie J. Van Essen [Pays-Bas] ; Johanna B. G. M. Verheij [Pays-Bas] ; Hermine E. Veenstra-Knol [Pays-Bas] ; Egbert J. W. Redeker [Pays-Bas] ; Marcel M. A. M. Mannens [Pays-Bas] ; Morris A. Swertz [Pays-Bas] ; Behrooz Z. Alizadeh [Pays-Bas] ; Conny M. A. Van Ravenswaaij-Arts [Pays-Bas] ; Richard J. Sinke [Pays-Bas] ; Birgit Sikkema-Raddatz [Pays-Bas]

Source :

RBID : PMC:4743197

Abstract

Background

Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases, the majority of patients remain undiagnosed.

Here, we investigated the utility of whole-exome sequencing as a diagnostic approach for establishing a molecular diagnosis in a highly heterogeneous group of patients with varied intellectual disability and microcephaly.

Methods

Whole-exome sequencing was performed in 38 patients, including three sib-pairs, in addition to or in parallel with genetic analyses that were performed during the diagnostic work-up of the study participants.

Results

In ten out of these 35 families (29 %), we found mutations in genes already known to be related to a disorder in which microcephaly is a main feature. Two unrelated patients had mutations in the ASPM gene. In seven other patients we found mutations in RAB3GAP1, RNASEH2B, KIF11, ERCC8, CASK, DYRK1A and BRCA2. In one of the sib-pairs, mutations were found in the RTTN gene. Mutations were present in seven out of our ten families with an established etiological diagnosis with recessive inheritance.

Conclusions

We demonstrate that whole-exome sequencing is a powerful tool for the diagnostic evaluation of patients with highly heterogeneous neurodevelopmental disorders such as intellectual disability with microcephaly. Our results confirm that autosomal recessive disorders are highly prevalent among patients with microcephaly.

Electronic supplementary material

The online version of this article (doi:10.1186/s12920-016-0167-8) contains supplementary material, which is available to authorized users.


Url:
DOI: 10.1186/s12920-016-0167-8
PubMed: 26846091
PubMed Central: 4743197


Affiliations:

Links toward previous steps (curation, corpus...)

Le document en format XML

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<settlement type="city">Amsterdam</settlement>
</placeName>
<orgName type="university">Université d'Amsterdam</orgName>
</affiliation>
</author>
<author>
<name sortKey="Swertz, Morris A" sort="Swertz, Morris A" uniqKey="Swertz M" first="Morris A." last="Swertz">Morris A. Swertz</name>
<affiliation wicri:level="4">
<nlm:aff id="Aff3">Department of Genetics, University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Groningen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre Groningen, Genomics Coordination Centre, Groningen</wicri:regionArea>
<placeName>
<settlement type="city">Groningue</settlement>
<region nuts="2" type="province">Groningue (province)</region>
<settlement type="city">Groningue (ville)</settlement>
</placeName>
<orgName type="university">Université de Groningue</orgName>
</affiliation>
</author>
<author>
<name sortKey="Alizadeh, Behrooz Z" sort="Alizadeh, Behrooz Z" uniqKey="Alizadeh B" first="Behrooz Z." last="Alizadeh">Behrooz Z. Alizadeh</name>
<affiliation wicri:level="4">
<nlm:aff id="Aff4">Department of Epidemiology, University of Groningen, University Medical Centre Groningen, Groningen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, University of Groningen, University Medical Centre Groningen, Groningen</wicri:regionArea>
<placeName>
<settlement type="city">Groningue</settlement>
<region nuts="2" type="province">Groningue (province)</region>
<settlement type="city">Groningue (ville)</settlement>
</placeName>
<orgName type="university">Université de Groningue</orgName>
</affiliation>
</author>
<author>
<name sortKey="Van Ravenswaaij Arts, Conny M A" sort="Van Ravenswaaij Arts, Conny M A" uniqKey="Van Ravenswaaij Arts C" first="Conny M. A." last="Van Ravenswaaij-Arts">Conny M. A. Van Ravenswaaij-Arts</name>
<affiliation wicri:level="4">
<nlm:aff id="Aff1">Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen</wicri:regionArea>
<orgName type="university">Université de Groningue</orgName>
<placeName>
<settlement type="city">Groningue (ville)</settlement>
<region>Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J." last="Sinke">Richard J. Sinke</name>
<affiliation wicri:level="4">
<nlm:aff id="Aff1">Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen</wicri:regionArea>
<orgName type="university">Université de Groningue</orgName>
<placeName>
<settlement type="city">Groningue (ville)</settlement>
<region>Groningue (province)</region>
</placeName>
</affiliation>
</author>
<author>
<name sortKey="Sikkema Raddatz, Birgit" sort="Sikkema Raddatz, Birgit" uniqKey="Sikkema Raddatz B" first="Birgit" last="Sikkema-Raddatz">Birgit Sikkema-Raddatz</name>
<affiliation wicri:level="4">
<nlm:aff id="Aff1">Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Genetics, University of Groningen, University Medical Centre Groningen, P.O. Box 30.001, 9700 RB Groningen</wicri:regionArea>
<orgName type="university">Université de Groningue</orgName>
<placeName>
<settlement type="city">Groningue (ville)</settlement>
<region>Groningue (province)</region>
</placeName>
</affiliation>
</author>
</analytic>
<series>
<title level="j">BMC Medical Genomics</title>
<idno type="eISSN">1755-8794</idno>
<imprint>
<date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc>
<textClass></textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">
<sec>
<title>Background</title>
<p>Clinical and genetic heterogeneity in monogenetic disorders represents a major diagnostic challenge. Although the presence of particular clinical features may aid in identifying a specific cause in some cases, the majority of patients remain undiagnosed.</p>
<p>Here, we investigated the utility of whole-exome sequencing as a diagnostic approach for establishing a molecular diagnosis in a highly heterogeneous group of patients with varied intellectual disability and microcephaly.</p>
</sec>
<sec>
<title>Methods</title>
<p>Whole-exome sequencing was performed in 38 patients, including three sib-pairs, in addition to or in parallel with genetic analyses that were performed during the diagnostic work-up of the study participants.</p>
</sec>
<sec>
<title>Results</title>
<p>In ten out of these 35 families (29 %), we found mutations in genes already known to be related to a disorder in which microcephaly is a main feature. Two unrelated patients had mutations in the
<italic>ASPM</italic>
gene. In seven other patients we found mutations in
<italic>RAB3GAP1</italic>
,
<italic>RNASEH2B, KIF11</italic>
,
<italic>ERCC8</italic>
,
<italic>CASK</italic>
,
<italic>DYRK1A</italic>
and
<italic>BRCA2</italic>
. In one of the sib-pairs, mutations were found in the
<italic>RTTN</italic>
gene. Mutations were present in seven out of our ten families with an established etiological diagnosis with recessive inheritance.</p>
</sec>
<sec>
<title>Conclusions</title>
<p>We demonstrate that whole-exome sequencing is a powerful tool for the diagnostic evaluation of patients with highly heterogeneous neurodevelopmental disorders such as intellectual disability with microcephaly. Our results confirm that autosomal recessive disorders are highly prevalent among patients with microcephaly.</p>
</sec>
<sec>
<title>Electronic supplementary material</title>
<p>The online version of this article (doi:10.1186/s12920-016-0167-8) contains supplementary material, which is available to authorized users.</p>
</sec>
</div>
</front>
<back>
<div1 type="bibliography">
<listBibl>
<biblStruct>
<analytic>
<author>
<name sortKey="Woods, Cg" uniqKey="Woods C">CG Woods</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Prasad, An" uniqKey="Prasad A">AN Prasad</name>
</author>
<author>
<name sortKey="Bunzeluk, K" uniqKey="Bunzeluk K">K Bunzeluk</name>
</author>
<author>
<name sortKey="Prasad, C" uniqKey="Prasad C">C Prasad</name>
</author>
<author>
<name sortKey="Chodirker, Bn" uniqKey="Chodirker B">BN Chodirker</name>
</author>
<author>
<name sortKey="Magnus, Kg" uniqKey="Magnus K">KG Magnus</name>
</author>
<author>
<name sortKey="Greenberg, Cr" uniqKey="Greenberg C">CR Greenberg</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Piro, E" uniqKey="Piro E">E Piro</name>
</author>
<author>
<name sortKey="Antona, V" uniqKey="Antona V">V Antona</name>
</author>
<author>
<name sortKey="Consiglio, V" uniqKey="Consiglio V">V Consiglio</name>
</author>
<author>
<name sortKey="Ballacchino, A" uniqKey="Ballacchino A">A Ballacchino</name>
</author>
<author>
<name sortKey="Graziano, F" uniqKey="Graziano F">F Graziano</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Cooper, Gm" uniqKey="Cooper G">GM Cooper</name>
</author>
<author>
<name sortKey="Coe, Bp" uniqKey="Coe B">BP Coe</name>
</author>
<author>
<name sortKey="Girirajan, S" uniqKey="Girirajan S">S Girirajan</name>
</author>
<author>
<name sortKey="Rosenfeld, Ja" uniqKey="Rosenfeld J">JA Rosenfeld</name>
</author>
<author>
<name sortKey="Vu, Th" uniqKey="Vu T">TH Vu</name>
</author>
<author>
<name sortKey="Baker, C" uniqKey="Baker C">C Baker</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Hagen, M" uniqKey="Hagen M">M Hagen</name>
</author>
<author>
<name sortKey="Pivarcsi, M" uniqKey="Pivarcsi M">M Pivarcsi</name>
</author>
<author>
<name sortKey="Liebe, J" uniqKey="Liebe J">J Liebe</name>
</author>
<author>
<name sortKey="Bernuth, H" uniqKey="Bernuth H">H Bernuth</name>
</author>
<author>
<name sortKey="Didonato, N" uniqKey="Didonato N">N Didonato</name>
</author>
<author>
<name sortKey="Hennermann, Jb" uniqKey="Hennermann J">JB Hennermann</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Alcantara, D" uniqKey="Alcantara D">D Alcantara</name>
</author>
<author>
<name sortKey="O Riscoll, M" uniqKey="O Riscoll M">M O’Driscoll</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Dixon Salazar, Tj" uniqKey="Dixon Salazar T">TJ Dixon-Salazar</name>
</author>
<author>
<name sortKey="Silhavy, Jl" uniqKey="Silhavy J">JL Silhavy</name>
</author>
<author>
<name sortKey="Udpa, N" uniqKey="Udpa N">N Udpa</name>
</author>
<author>
<name sortKey="Schroth, J" uniqKey="Schroth J">J Schroth</name>
</author>
<author>
<name sortKey="Bielas, S" uniqKey="Bielas S">S Bielas</name>
</author>
<author>
<name sortKey="Schaffer, Ae" uniqKey="Schaffer A">AE Schaffer</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Dyment, Da" uniqKey="Dyment D">DA Dyment</name>
</author>
<author>
<name sortKey="Sawyer, Sl" uniqKey="Sawyer S">SL Sawyer</name>
</author>
<author>
<name sortKey="Chardon, Jw" uniqKey="Chardon J">JW Chardon</name>
</author>
<author>
<name sortKey="Boycott, Km" uniqKey="Boycott K">KM Boycott</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Rabbani, B" uniqKey="Rabbani B">B Rabbani</name>
</author>
<author>
<name sortKey="Mahdieh, N" uniqKey="Mahdieh N">N Mahdieh</name>
</author>
<author>
<name sortKey="Hosomichi, K" uniqKey="Hosomichi K">K Hosomichi</name>
</author>
<author>
<name sortKey="Nakaoka, H" uniqKey="Nakaoka H">H Nakaoka</name>
</author>
<author>
<name sortKey="Inoue, I" uniqKey="Inoue I">I Inoue</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Abecasis, G" uniqKey="Abecasis G">G Abecasis</name>
</author>
<author>
<name sortKey="Altshuler, D" uniqKey="Altshuler D">D Altshuler</name>
</author>
<author>
<name sortKey="Auton, A" uniqKey="Auton A">A Auton</name>
</author>
<author>
<name sortKey="Brooks, Ld" uniqKey="Brooks L">LD Brooks</name>
</author>
<author>
<name sortKey="Durbin Rm, Gra" uniqKey="Durbin Rm G">GRA Durbin RM</name>
</author>
<author>
<name sortKey="Hurles, Me" uniqKey="Hurles M">ME Hurles</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Li, H" uniqKey="Li H">H Li</name>
</author>
<author>
<name sortKey="Durbin, R" uniqKey="Durbin R">R Durbin</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Mckenna, A" uniqKey="Mckenna A">A McKenna</name>
</author>
<author>
<name sortKey="Hanna, M" uniqKey="Hanna M">M Hanna</name>
</author>
<author>
<name sortKey="Banks, E" uniqKey="Banks E">E Banks</name>
</author>
<author>
<name sortKey="Sivachenko, A" uniqKey="Sivachenko A">A Sivachenko</name>
</author>
<author>
<name sortKey="Cibulskis, K" uniqKey="Cibulskis K">K Cibulskis</name>
</author>
<author>
<name sortKey="Kernytsky, A" uniqKey="Kernytsky A">A Kernytsky</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ye, K" uniqKey="Ye K">K Ye</name>
</author>
<author>
<name sortKey="Schulz, Mh" uniqKey="Schulz M">MH Schulz</name>
</author>
<author>
<name sortKey="Long, Q" uniqKey="Long Q">Q Long</name>
</author>
<author>
<name sortKey="Apweiler, R" uniqKey="Apweiler R">R Apweiler</name>
</author>
<author>
<name sortKey="Ning, Z" uniqKey="Ning Z">Z Ning</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Cingolani, P" uniqKey="Cingolani P">P Cingolani</name>
</author>
<author>
<name sortKey="Platts, A" uniqKey="Platts A">A Platts</name>
</author>
<author>
<name sortKey="Wang, L" uniqKey="Wang L">L Wang</name>
</author>
<author>
<name sortKey="Coon, M" uniqKey="Coon M">M Coon</name>
</author>
<author>
<name sortKey="Nguyen, T" uniqKey="Nguyen T">T Nguyen</name>
</author>
<author>
<name sortKey="Wang, L" uniqKey="Wang L">L Wang</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Byelas, H" uniqKey="Byelas H">H Byelas</name>
</author>
<author>
<name sortKey="Dijkstra, M" uniqKey="Dijkstra M">M Dijkstra</name>
</author>
<author>
<name sortKey="Neerincx, Pb" uniqKey="Neerincx P">PB Neerincx</name>
</author>
<author>
<name sortKey="Van Dijk, F" uniqKey="Van Dijk F">F Van Dijk</name>
</author>
<author>
<name sortKey="Kanterakis, A" uniqKey="Kanterakis A">A Kanterakis</name>
</author>
<author>
<name sortKey="Deelen, P" uniqKey="Deelen P">P Deelen</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Francioli, Lc" uniqKey="Francioli L">LC Francioli</name>
</author>
<author>
<name sortKey="Menelaou, A" uniqKey="Menelaou A">A Menelaou</name>
</author>
<author>
<name sortKey="Pulit, Sl" uniqKey="Pulit S">SL Pulit</name>
</author>
<author>
<name sortKey="Van Dijk, F" uniqKey="Van Dijk F">F van Dijk</name>
</author>
<author>
<name sortKey="Palamara, Pf" uniqKey="Palamara P">PF Palamara</name>
</author>
<author>
<name sortKey="Elbers, Cc" uniqKey="Elbers C">CC Elbers</name>
</author>
</analytic>
</biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct></biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Crow, Yj" uniqKey="Crow Y">YJ Crow</name>
</author>
<author>
<name sortKey="Leitch, A" uniqKey="Leitch A">A Leitch</name>
</author>
<author>
<name sortKey="Hayward, Be" uniqKey="Hayward B">BE Hayward</name>
</author>
<author>
<name sortKey="Garner, A" uniqKey="Garner A">A Garner</name>
</author>
<author>
<name sortKey="Parmar, R" uniqKey="Parmar R">R Parmar</name>
</author>
<author>
<name sortKey="Griffith, E" uniqKey="Griffith E">E Griffith</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Passemard, S" uniqKey="Passemard S">S Passemard</name>
</author>
<author>
<name sortKey="Titomanlio, L" uniqKey="Titomanlio L">L Titomanlio</name>
</author>
<author>
<name sortKey="Elmaleh, M" uniqKey="Elmaleh M">M Elmaleh</name>
</author>
<author>
<name sortKey="Afenjar, A" uniqKey="Afenjar A">A Afenjar</name>
</author>
<author>
<name sortKey="Alessandri, J L" uniqKey="Alessandri J">J-L Alessandri</name>
</author>
<author>
<name sortKey="Andria, G" uniqKey="Andria G">G Andria</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Aligianis, Ia" uniqKey="Aligianis I">IA Aligianis</name>
</author>
<author>
<name sortKey="Johnson, Ca" uniqKey="Johnson C">CA Johnson</name>
</author>
<author>
<name sortKey="Gissen, P" uniqKey="Gissen P">P Gissen</name>
</author>
<author>
<name sortKey="Chen, D" uniqKey="Chen D">D Chen</name>
</author>
<author>
<name sortKey="Hampshire, D" uniqKey="Hampshire D">D Hampshire</name>
</author>
<author>
<name sortKey="Hoffmann, K" uniqKey="Hoffmann K">K Hoffmann</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Alter, Bp" uniqKey="Alter B">BP Alter</name>
</author>
<author>
<name sortKey="Rosenberg, Ps" uniqKey="Rosenberg P">PS Rosenberg</name>
</author>
<author>
<name sortKey="Brody, Lc" uniqKey="Brody L">LC Brody</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Yang, Y" uniqKey="Yang Y">Y Yang</name>
</author>
<author>
<name sortKey="Muzny, Dm" uniqKey="Muzny D">DM Muzny</name>
</author>
<author>
<name sortKey="Reid, Jg" uniqKey="Reid J">JG Reid</name>
</author>
<author>
<name sortKey="Bainbridge, Mn" uniqKey="Bainbridge M">MN Bainbridge</name>
</author>
<author>
<name sortKey="Willis, A" uniqKey="Willis A">A Willis</name>
</author>
<author>
<name sortKey="Ward, Pa" uniqKey="Ward P">PA Ward</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Neveling, K" uniqKey="Neveling K">K Neveling</name>
</author>
<author>
<name sortKey="Feenstra, I" uniqKey="Feenstra I">I Feenstra</name>
</author>
<author>
<name sortKey="Gilissen, C" uniqKey="Gilissen C">C Gilissen</name>
</author>
<author>
<name sortKey="Hoefsloot, Lh" uniqKey="Hoefsloot L">LH Hoefsloot</name>
</author>
<author>
<name sortKey="Kamsteeg, E J" uniqKey="Kamsteeg E">E-J Kamsteeg</name>
</author>
<author>
<name sortKey="Mensenkamp, Ar" uniqKey="Mensenkamp A">AR Mensenkamp</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Fahiminiya, S" uniqKey="Fahiminiya S">S Fahiminiya</name>
</author>
<author>
<name sortKey="Almuriekhi, M" uniqKey="Almuriekhi M">M Almuriekhi</name>
</author>
<author>
<name sortKey="Nawaz, Z" uniqKey="Nawaz Z">Z Nawaz</name>
</author>
<author>
<name sortKey="Staffa, A" uniqKey="Staffa A">A Staffa</name>
</author>
<author>
<name sortKey="Lepage, P" uniqKey="Lepage P">P Lepage</name>
</author>
<author>
<name sortKey="Ali, R" uniqKey="Ali R">R Ali</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Nicholas, Ak" uniqKey="Nicholas A">AK Nicholas</name>
</author>
<author>
<name sortKey="Swanson, Ea" uniqKey="Swanson E">EA Swanson</name>
</author>
<author>
<name sortKey="Cox, Jj" uniqKey="Cox J">JJ Cox</name>
</author>
<author>
<name sortKey="Karbani, G" uniqKey="Karbani G">G Karbani</name>
</author>
<author>
<name sortKey="Malik, S" uniqKey="Malik S">S Malik</name>
</author>
<author>
<name sortKey="Springell, K" uniqKey="Springell K">K Springell</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Ostergaard, P" uniqKey="Ostergaard P">P Ostergaard</name>
</author>
<author>
<name sortKey="Simpson, Ma" uniqKey="Simpson M">MA Simpson</name>
</author>
<author>
<name sortKey="Mendola, A" uniqKey="Mendola A">A Mendola</name>
</author>
<author>
<name sortKey="Vasudevan, P" uniqKey="Vasudevan P">P Vasudevan</name>
</author>
<author>
<name sortKey="Connell, Fc" uniqKey="Connell F">FC Connell</name>
</author>
<author>
<name sortKey="Van Impel, A" uniqKey="Van Impel A">A van Impel</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Kheradmand Kia, S" uniqKey="Kheradmand Kia S">S Kheradmand Kia</name>
</author>
<author>
<name sortKey="Verbeek, E" uniqKey="Verbeek E">E Verbeek</name>
</author>
<author>
<name sortKey="Engelen, E" uniqKey="Engelen E">E Engelen</name>
</author>
<author>
<name sortKey="Schot, R" uniqKey="Schot R">R Schot</name>
</author>
<author>
<name sortKey="Poot, Ra" uniqKey="Poot R">RA Poot</name>
</author>
<author>
<name sortKey="De Coo, If" uniqKey="De Coo I">IF de Coo</name>
</author>
</analytic>
</biblStruct>
<biblStruct>
<analytic>
<author>
<name sortKey="Barkovich, Aj" uniqKey="Barkovich A">AJ Barkovich</name>
</author>
<author>
<name sortKey="Guerrini, R" uniqKey="Guerrini R">R Guerrini</name>
</author>
<author>
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<author>
<name sortKey="Durand, M" uniqKey="Durand M">M Durand</name>
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<name sortKey="Wimplinger, I" uniqKey="Wimplinger I">I Wimplinger</name>
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<name sortKey="Chizhikov, Vv" uniqKey="Chizhikov V">VV Chizhikov</name>
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<author>
<name sortKey="Licata, A" uniqKey="Licata A">A Licata</name>
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<name sortKey="Cox, J" uniqKey="Cox J">J Cox</name>
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<author>
<name sortKey="Whibley, A" uniqKey="Whibley A">A Whibley</name>
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</author>
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<name sortKey="Kortum, F" uniqKey="Kortum F">F Kortüm</name>
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<author>
<name sortKey="Chilian, B" uniqKey="Chilian B">B Chilian</name>
</author>
<author>
<name sortKey="Bierhals, T" uniqKey="Bierhals T">T Bierhals</name>
</author>
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<name sortKey="Apeshiotis, N" uniqKey="Apeshiotis N">N Apeshiotis</name>
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<author>
<name sortKey="Fu, W" uniqKey="Fu W">W Fu</name>
</author>
<author>
<name sortKey="Egertson, Jd" uniqKey="Egertson J">JD Egertson</name>
</author>
<author>
<name sortKey="Stanaway, Ib" uniqKey="Stanaway I">IB Stanaway</name>
</author>
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</author>
<author>
<name sortKey="Hoischen, A" uniqKey="Hoischen A">A Hoischen</name>
</author>
<author>
<name sortKey="Hehir Kwa, J" uniqKey="Hehir Kwa J">J Hehir-Kwa</name>
</author>
<author>
<name sortKey="De Brouwer, A" uniqKey="De Brouwer A">A de Brouwer</name>
</author>
<author>
<name sortKey="Ruivenkamp, C" uniqKey="Ruivenkamp C">C Ruivenkamp</name>
</author>
<author>
<name sortKey="Gijsbers, A" uniqKey="Gijsbers A">A Gijsbers</name>
</author>
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</author>
<author>
<name sortKey="Olson, S" uniqKey="Olson S">S Olson</name>
</author>
<author>
<name sortKey="Cox, B" uniqKey="Cox B">B Cox</name>
</author>
<author>
<name sortKey="Waisfisz, Q" uniqKey="Waisfisz Q">Q Waisfisz</name>
</author>
<author>
<name sortKey="De Die Smulders, C" uniqKey="De Die Smulders C">C de Die-Smulders</name>
</author>
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<name sortKey="Tea, M Km" uniqKey="Tea M">M-KM Tea</name>
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<author>
<name sortKey="Kroiss, R" uniqKey="Kroiss R">R Kroiss</name>
</author>
<author>
<name sortKey="Muhr, D" uniqKey="Muhr D">D Muhr</name>
</author>
<author>
<name sortKey="Fuerhauser Rappaport, C" uniqKey="Fuerhauser Rappaport C">C Fuerhauser-Rappaport</name>
</author>
<author>
<name sortKey="Oefner, P" uniqKey="Oefner P">P Oefner</name>
</author>
<author>
<name sortKey="Wagner, Tm" uniqKey="Wagner T">TM Wagner</name>
</author>
</analytic>
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<author>
<name sortKey="Firth, Hv" uniqKey="Firth H">HV Firth</name>
</author>
<author>
<name sortKey="Hurst, Ja" uniqKey="Hurst J">JA Hurst</name>
</author>
<author>
<name sortKey="Hall, Jg" uniqKey="Hall J">JG Hall</name>
</author>
</analytic>
</biblStruct>
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<author>
<name sortKey="Veltman, Ja" uniqKey="Veltman J">JA Veltman</name>
</author>
<author>
<name sortKey="Brunner, Hg" uniqKey="Brunner H">HG Brunner</name>
</author>
</analytic>
</biblStruct>
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<analytic>
<author>
<name sortKey="De Ligt, J" uniqKey="De Ligt J">J De Ligt</name>
</author>
<author>
<name sortKey="Willemsen, Mh" uniqKey="Willemsen M">MH Willemsen</name>
</author>
<author>
<name sortKey="Van Bon, Bw" uniqKey="Van Bon B">BW van Bon</name>
</author>
<author>
<name sortKey="Kleefstra, T" uniqKey="Kleefstra T">T Kleefstra</name>
</author>
<author>
<name sortKey="Yntema, Hg" uniqKey="Yntema H">HG Yntema</name>
</author>
<author>
<name sortKey="Kroes, T" uniqKey="Kroes T">T Kroes</name>
</author>
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<li>Pays-Bas</li>
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<region>
<li>Groningue (province)</li>
<li>Hollande-Septentrionale</li>
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<li>Amsterdam</li>
<li>Groningue</li>
<li>Groningue (ville)</li>
</settlement>
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<li>Université d'Amsterdam</li>
<li>Université de Groningue</li>
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</region>
<name sortKey="Alizadeh, Behrooz Z" sort="Alizadeh, Behrooz Z" uniqKey="Alizadeh B" first="Behrooz Z." last="Alizadeh">Behrooz Z. Alizadeh</name>
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<name sortKey="Johansson, Lennart F" sort="Johansson, Lennart F" uniqKey="Johansson L" first="Lennart F." last="Johansson">Lennart F. Johansson</name>
<name sortKey="Johansson, Lennart F" sort="Johansson, Lennart F" uniqKey="Johansson L" first="Lennart F." last="Johansson">Lennart F. Johansson</name>
<name sortKey="Mannens, Marcel M A M" sort="Mannens, Marcel M A M" uniqKey="Mannens M" first="Marcel M. A. M." last="Mannens">Marcel M. A. M. Mannens</name>
<name sortKey="Redeker, Egbert J W" sort="Redeker, Egbert J W" uniqKey="Redeker E" first="Egbert J. W." last="Redeker">Egbert J. W. Redeker</name>
<name sortKey="Sikkema Raddatz, Birgit" sort="Sikkema Raddatz, Birgit" uniqKey="Sikkema Raddatz B" first="Birgit" last="Sikkema-Raddatz">Birgit Sikkema-Raddatz</name>
<name sortKey="Sinke, Richard J" sort="Sinke, Richard J" uniqKey="Sinke R" first="Richard J." last="Sinke">Richard J. Sinke</name>
<name sortKey="Swertz, Morris A" sort="Swertz, Morris A" uniqKey="Swertz M" first="Morris A." last="Swertz">Morris A. Swertz</name>
<name sortKey="Van Dijk Bos, Krista K" sort="Van Dijk Bos, Krista K" uniqKey="Van Dijk Bos K" first="Krista K." last="Van Dijk-Bos">Krista K. Van Dijk-Bos</name>
<name sortKey="Van Essen, Anthonie J" sort="Van Essen, Anthonie J" uniqKey="Van Essen A" first="Anthonie J." last="Van Essen">Anthonie J. Van Essen</name>
<name sortKey="Van Ravenswaaij Arts, Conny M A" sort="Van Ravenswaaij Arts, Conny M A" uniqKey="Van Ravenswaaij Arts C" first="Conny M. A." last="Van Ravenswaaij-Arts">Conny M. A. Van Ravenswaaij-Arts</name>
<name sortKey="Veenstra Knol, Hermine E" sort="Veenstra Knol, Hermine E" uniqKey="Veenstra Knol H" first="Hermine E." last="Veenstra-Knol">Hermine E. Veenstra-Knol</name>
<name sortKey="Verheij, Johanna B G M" sort="Verheij, Johanna B G M" uniqKey="Verheij J" first="Johanna B. G. M." last="Verheij">Johanna B. G. M. Verheij</name>
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