YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Identifieur interne : 000030 ( Main/Exploration ); précédent : 000029; suivant : 000031YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Auteurs : Michele Gabriele [Italie] ; Anneke T. Vulto-Van Silfhout [Pays-Bas] ; Pierre-Luc Germain [Italie] ; Alessandro Vitriolo [Italie] ; Raman Kumar [Australie] ; Evelyn Douglas [Australie] ; Eric Haan [Australie] ; Kenjiro Kosaki [Japon] ; Toshiki Takenouchi [Japon] ; Anita Rauch [Suisse] ; Katharina Steindl [Suisse] ; Eirik Frengen [Norvège] ; Doriana Misceo [Norvège] ; Christeen Ramane J. Pedurupillay [Norvège] ; Petter Stromme [Norvège] ; Jill A. Rosenfeld [États-Unis] ; Yunru Shao [États-Unis] ; William J. Craigen [États-Unis] ; Christian P. Schaaf [États-Unis] ; David Rodriguez-Buritica [États-Unis] ; Laura Farach [États-Unis] ; Jennifer Friedman [États-Unis] ; Perla Thulin [États-Unis] ; Scott D. Mclean [États-Unis] ; Kimberly M. Nugent [États-Unis] ; Jenny Morton [Royaume-Uni] ; Jillian Nicholl [Australie] ; Joris Andrieux [France] ; Asbj Rg Stray-Pedersen [États-Unis] ; Pascal Chambon [France] ; Sophie Patrier [France] ; Sally A. Lynch [Irlande (pays)] ; Susanne Kjaergaard [Danemark] ; Pernille M. T Rring [Danemark] ; Charlotte Brasch-Andersen [Danemark] ; Anne Ronan [Australie] ; Arie Van Haeringen [Pays-Bas] ; Peter J. Anderson [Australie] ; Zöe Powis [États-Unis] ; Han G. Brunner [Pays-Bas] ; Rolph Pfundt [Pays-Bas] ; Janneke H M. Schuurs-Hoeijmakers [Pays-Bas] ; Bregje W M. Van Bon [Pays-Bas] ; Stefan Lelieveld [Pays-Bas] ; Christian Gilissen [Pays-Bas] ; Willy M. Nillesen [Pays-Bas] ; Lisenka E L M. Vissers [Pays-Bas] ; Jozef Gecz [Australie] ; David A. Koolen [Pays-Bas] ; Giuseppe Testa [Italie] ; Bert B A. De Vries [Pays-Bas]Source :
- American journal of human genetics [ 1537-6605 ] ; 2017.
Descripteurs français
- KwdFr :
- Acétylation, Adolescent, Chromatine (métabolisme), Domaines protéiques, Déficience intellectuelle (génétique), Enfant d'âge préscolaire, Facteur de transcription YY1 (), Facteur de transcription YY1 (génétique), Femelle, Gene Ontology, Haploinsuffisance (génétique), Haplotypes (génétique), Histone (métabolisme), Humains, Hémizygote, Immunoprécipitation de la chromatine, Liaison aux protéines (génétique), Lymphocytes (métabolisme), Modèles moléculaires, Mutation faux-sens (génétique), Mâle, Méthylation, Séquence nucléotidique, Transcription génétique, Éléments activateurs (génétique) (génétique), Études de cohortes.
- MESH :
- génétique : Déficience intellectuelle, Facteur de transcription YY1, Haploinsuffisance, Haplotypes, Liaison aux protéines, Mutation faux-sens, Éléments activateurs (génétique).
- métabolisme : Chromatine, Histone, Lymphocytes.
- Acétylation, Adolescent, Domaines protéiques, Enfant d'âge préscolaire, Facteur de transcription YY1, Femelle, Gene Ontology, Humains, Hémizygote, Immunoprécipitation de la chromatine, Modèles moléculaires, Mâle, Méthylation, Séquence nucléotidique, Transcription génétique, Études de cohortes.
English descriptors
- KwdEn :
- Acetylation, Adolescent, Base Sequence, Child, Preschool, Chromatin (metabolism), Chromatin Immunoprecipitation, Cohort Studies, Enhancer Elements, Genetic (genetics), Female, Gene Ontology, Haploinsufficiency (genetics), Haplotypes (genetics), Hemizygote, Histones (metabolism), Humans, Intellectual Disability (genetics), Lymphocytes (metabolism), Male, Methylation, Models, Molecular, Mutation, Missense (genetics), Protein Binding (genetics), Protein Domains, Transcription, Genetic, YY1 Transcription Factor (chemistry), YY1 Transcription Factor (genetics).
- MESH :
- chemical , chemistry : YY1 Transcription Factor.
- chemical , genetics : YY1 Transcription Factor.
- chemical , metabolism : Chromatin, Histones.
- genetics : Enhancer Elements, Genetic, Haploinsufficiency, Haplotypes, Intellectual Disability, Mutation, Missense, Protein Binding.
- metabolism : Lymphocytes.
- Acetylation, Adolescent, Base Sequence, Child, Preschool, Chromatin Immunoprecipitation, Cohort Studies, Female, Gene Ontology, Hemizygote, Humans, Male, Methylation, Models, Molecular, Protein Domains, Transcription, Genetic.
Abstract
Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.
DOI: 10.1016/j.ajhg.2017.05.006
PubMed: 28575647
Affiliations:
- Australie, Danemark, France, Irlande (pays), Italie, Japon, Norvège, Pays-Bas, Royaume-Uni, Suisse, États-Unis
- Californie, Canton de Zurich, Haute-Normandie, Hovedstaden, Lombardie, Région Normandie, Région de Kantō, Texas, Østlandet
- Copenhague, Milan, Oslo, Rouen, Tokyo, Zurich
- Université de Zurich
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Le document en format XML
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Pedurupillay</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Stromme, Petter" sort="Stromme, Petter" uniqKey="Stromme P" first="Petter" last="Stromme">Petter Stromme</name><affiliation wicri:level="1"><nlm:affiliation>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Shao, Yunru" sort="Shao, Yunru" uniqKey="Shao Y" first="Yunru" last="Shao">Yunru Shao</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Craigen, William J" sort="Craigen, William J" uniqKey="Craigen W" first="William J" last="Craigen">William J. Craigen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Rodriguez Buritica, David" sort="Rodriguez Buritica, David" uniqKey="Rodriguez Buritica D" first="David" last="Rodriguez-Buritica">David Rodriguez-Buritica</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Farach, Laura" sort="Farach, Laura" uniqKey="Farach L" first="Laura" last="Farach">Laura Farach</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Thulin, Perla" sort="Thulin, Perla" uniqKey="Thulin P" first="Perla" last="Thulin">Perla Thulin</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, San Diego, CA 92123, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, San Diego, CA 92123</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mclean, Scott D" sort="Mclean, Scott D" uniqKey="Mclean S" first="Scott D" last="Mclean">Scott D. Mclean</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Nugent, Kimberly M" sort="Nugent, Kimberly M" uniqKey="Nugent K" first="Kimberly M" last="Nugent">Kimberly M. Nugent</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation wicri:level="1"><nlm:affiliation>Birmingham Women's Hospital, B15 2TG Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's Hospital, B15 2TG Birmingham</wicri:regionArea><wicri:noRegion>B15 2TG Birmingham</wicri:noRegion></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation wicri:level="1"><nlm:affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Stray Pedersen, Asbj Rg" sort="Stray Pedersen, Asbj Rg" uniqKey="Stray Pedersen A" first="Asbj Rg" last="Stray-Pedersen">Asbj Rg Stray-Pedersen</name><affiliation wicri:level="2"><nlm:affiliation>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Patrier, Sophie" sort="Patrier, Sophie" uniqKey="Patrier S" first="Sophie" last="Patrier">Sophie Patrier</name><affiliation wicri:level="3"><nlm:affiliation>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Lynch, Sally A" sort="Lynch, Sally A" uniqKey="Lynch S" first="Sally A" last="Lynch">Sally A. Lynch</name><affiliation wicri:level="1"><nlm:affiliation>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin</wicri:regionArea><wicri:noRegion>D12 V004 Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="T Rring, Pernille M" sort="T Rring, Pernille M" uniqKey="T Rring P" first="Pernille M" last="T Rring">Pernille M. T Rring</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, 5000 Odense</wicri:regionArea><wicri:noRegion>5000 Odense</wicri:noRegion></affiliation></author><author><name sortKey="Brasch Andersen, Charlotte" sort="Brasch Andersen, Charlotte" uniqKey="Brasch Andersen C" first="Charlotte" last="Brasch-Andersen">Charlotte Brasch-Andersen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, 5000 Odense</wicri:regionArea><wicri:noRegion>5000 Odense</wicri:noRegion></affiliation></author><author><name sortKey="Ronan, Anne" sort="Ronan, Anne" uniqKey="Ronan A" first="Anne" last="Ronan">Anne Ronan</name><affiliation wicri:level="1"><nlm:affiliation>Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Hunter Genetics, Waratah, NSW 2298</wicri:regionArea><wicri:noRegion>NSW 2298</wicri:noRegion></affiliation></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden</wicri:regionArea><wicri:noRegion>2333 ZA Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Anderson, Peter J" sort="Anderson, Peter J" uniqKey="Anderson P" first="Peter J" last="Anderson">Peter J. Anderson</name><affiliation wicri:level="1"><nlm:affiliation>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Powis, Zoe" sort="Powis, Zoe" uniqKey="Powis Z" first="Zöe" last="Powis">Zöe Powis</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H M" sort="Schuurs Hoeijmakers, Janneke H M" uniqKey="Schuurs Hoeijmakers J" first="Janneke H M" last="Schuurs-Hoeijmakers">Janneke H M. Schuurs-Hoeijmakers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Lelieveld, Stefan" sort="Lelieveld, Stefan" uniqKey="Lelieveld S" first="Stefan" last="Lelieveld">Stefan Lelieveld</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Koolen, David A" sort="Koolen, David A" uniqKey="Koolen D" first="David A" last="Koolen">David A. Koolen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Testa, Giuseppe" sort="Testa, Giuseppe" uniqKey="Testa G" first="Giuseppe" last="Testa">Giuseppe Testa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address: giuseppe.testa@unimi.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2017">2017</date><idno type="RBID">pubmed:28575647</idno><idno type="pmid">28575647</idno><idno type="doi">10.1016/j.ajhg.2017.05.006</idno><idno type="wicri:Area/PubMed/Corpus">000A34</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000A34</idno><idno type="wicri:Area/PubMed/Curation">000A31</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000A31</idno><idno type="wicri:Area/PubMed/Checkpoint">000A31</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000A31</idno><idno type="wicri:Area/Ncbi/Merge">004914</idno><idno type="wicri:Area/Ncbi/Curation">004914</idno><idno type="wicri:Area/Ncbi/Checkpoint">004914</idno><idno type="wicri:Area/Main/Merge">000025</idno><idno type="wicri:Area/Main/Curation">000030</idno><idno type="wicri:Area/Main/Exploration">000030</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.</title><author><name sortKey="Gabriele, Michele" sort="Gabriele, Michele" uniqKey="Gabriele M" first="Michele" last="Gabriele">Michele Gabriele</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Vulto Van Silfhout, Anneke T" sort="Vulto Van Silfhout, Anneke T" uniqKey="Vulto Van Silfhout A" first="Anneke T" last="Vulto-Van Silfhout">Anneke T. Vulto-Van Silfhout</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Germain, Pierre Luc" sort="Germain, Pierre Luc" uniqKey="Germain P" first="Pierre-Luc" last="Germain">Pierre-Luc Germain</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Vitriolo, Alessandro" sort="Vitriolo, Alessandro" uniqKey="Vitriolo A" first="Alessandro" last="Vitriolo">Alessandro Vitriolo</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name><affiliation wicri:level="1"><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name><affiliation wicri:level="1"><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Kosaki, Kenjiro" sort="Kosaki, Kenjiro" uniqKey="Kosaki K" first="Kenjiro" last="Kosaki">Kenjiro Kosaki</name><affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Takenouchi, Toshiki" sort="Takenouchi, Toshiki" uniqKey="Takenouchi T" first="Toshiki" last="Takenouchi">Toshiki Takenouchi</name><affiliation wicri:level="1"><nlm:affiliation>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo, Japan.</nlm:affiliation><country xml:lang="fr">Japon</country><wicri:regionArea>Center for Medical Genetics, Keio University School of Medicine, 160-8582 Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement><region type="région">Région de Kantō</region></placeName></affiliation></author><author><name sortKey="Rauch, Anita" sort="Rauch, Anita" uniqKey="Rauch A" first="Anita" last="Rauch">Anita Rauch</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Steindl, Katharina" sort="Steindl, Katharina" uniqKey="Steindl K" first="Katharina" last="Steindl">Katharina Steindl</name><affiliation wicri:level="4"><nlm:affiliation>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.</nlm:affiliation><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich</wicri:regionArea><orgName type="university">Université de Zurich</orgName><placeName><settlement type="city">Zurich</settlement><region nuts="3" type="region">Canton de Zurich</region></placeName></affiliation></author><author><name sortKey="Frengen, Eirik" sort="Frengen, Eirik" uniqKey="Frengen E" first="Eirik" last="Frengen">Eirik Frengen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Misceo, Doriana" sort="Misceo, Doriana" uniqKey="Misceo D" first="Doriana" last="Misceo">Doriana Misceo</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Pedurupillay, Christeen Ramane J" sort="Pedurupillay, Christeen Ramane J" uniqKey="Pedurupillay C" first="Christeen Ramane J" last="Pedurupillay">Christeen Ramane J. Pedurupillay</name><affiliation wicri:level="1"><nlm:affiliation>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Medical Genetics, University of Oslo and Oslo University Hospital, 0315 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Stromme, Petter" sort="Stromme, Petter" uniqKey="Stromme P" first="Petter" last="Stromme">Petter Stromme</name><affiliation wicri:level="1"><nlm:affiliation>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo, Norway.</nlm:affiliation><country xml:lang="fr">Norvège</country><wicri:regionArea>Division of Paediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, 0313 Oslo</wicri:regionArea><placeName><settlement type="city">Oslo</settlement><region nuts="2">Østlandet</region></placeName></affiliation></author><author><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Shao, Yunru" sort="Shao, Yunru" uniqKey="Shao Y" first="Yunru" last="Shao">Yunru Shao</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Craigen, William J" sort="Craigen, William J" uniqKey="Craigen W" first="William J" last="Craigen">William J. Craigen</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Schaaf, Christian P" sort="Schaaf, Christian P" uniqKey="Schaaf C" first="Christian P" last="Schaaf">Christian P. Schaaf</name><affiliation wicri:level="2"><nlm:affiliation>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Rodriguez Buritica, David" sort="Rodriguez Buritica, David" uniqKey="Rodriguez Buritica D" first="David" last="Rodriguez-Buritica">David Rodriguez-Buritica</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Farach, Laura" sort="Farach, Laura" uniqKey="Farach L" first="Laura" last="Farach">Laura Farach</name><affiliation wicri:level="2"><nlm:affiliation>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Division of Genetics, Department of Pediatrics, University of Texas Health, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><affiliation wicri:level="2"><nlm:affiliation>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Departments of Neurosciences and Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Thulin, Perla" sort="Thulin, Perla" uniqKey="Thulin P" first="Perla" last="Thulin">Perla Thulin</name><affiliation wicri:level="2"><nlm:affiliation>Department of Neurology, University of Utah, San Diego, CA 92123, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Utah, San Diego, CA 92123</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Mclean, Scott D" sort="Mclean, Scott D" uniqKey="Mclean S" first="Scott D" last="Mclean">Scott D. Mclean</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Nugent, Kimberly M" sort="Nugent, Kimberly M" uniqKey="Nugent K" first="Kimberly M" last="Nugent">Kimberly M. Nugent</name><affiliation wicri:level="2"><nlm:affiliation>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Clinical Genetics Section, Children's Hospital of San Antonio, San Antonio, TX 78207</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name><affiliation wicri:level="1"><nlm:affiliation>Birmingham Women's Hospital, B15 2TG Birmingham, UK.</nlm:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Birmingham Women's Hospital, B15 2TG Birmingham</wicri:regionArea><wicri:noRegion>B15 2TG Birmingham</wicri:noRegion></affiliation></author><author><name sortKey="Nicholl, Jillian" sort="Nicholl, Jillian" uniqKey="Nicholl J" first="Jillian" last="Nicholl">Jillian Nicholl</name><affiliation wicri:level="1"><nlm:affiliation>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>SA Clinical Genetics Service, SA Pathology, Adelaide, SA 5000, Australia; School of Medicine, University of Adelaide, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name><affiliation wicri:level="1"><nlm:affiliation>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Institut de Génétique Médicale, Hopital Jeanne de Flandre, 59000 Lille</wicri:regionArea><wicri:noRegion>59000 Lille</wicri:noRegion><wicri:noRegion>59000 Lille</wicri:noRegion></affiliation></author><author><name sortKey="Stray Pedersen, Asbj Rg" sort="Stray Pedersen, Asbj Rg" uniqKey="Stray Pedersen A" first="Asbj Rg" last="Stray-Pedersen">Asbj Rg Stray-Pedersen</name><affiliation wicri:level="2"><nlm:affiliation>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Human and Medical Genetics, Baylor College of Medicine, Houston, TX 77030</wicri:regionArea><placeName><region type="state">Texas</region></placeName></affiliation></author><author><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><affiliation wicri:level="3"><nlm:affiliation>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of Cytogenetics, Rouen University Hospital, 76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Patrier, Sophie" sort="Patrier, Sophie" uniqKey="Patrier S" first="Sophie" last="Patrier">Sophie Patrier</name><affiliation wicri:level="3"><nlm:affiliation>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen, France.</nlm:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service d'Anatomie Pathologique, Rouen University Hospital, 76031 Rouen</wicri:regionArea><placeName><region type="region" nuts="2">Région Normandie</region><region type="old region" nuts="2">Haute-Normandie</region><settlement type="city">Rouen</settlement></placeName></affiliation></author><author><name sortKey="Lynch, Sally A" sort="Lynch, Sally A" uniqKey="Lynch S" first="Sally A" last="Lynch">Sally A. Lynch</name><affiliation wicri:level="1"><nlm:affiliation>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin, Ireland.</nlm:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>National Centre for Medical Genetics, Our Lady's Children's Hospital, D12 V004 Dublin</wicri:regionArea><wicri:noRegion>D12 V004 Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Rigshospitalet, 2100 Copenhagen</wicri:regionArea><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="T Rring, Pernille M" sort="T Rring, Pernille M" uniqKey="T Rring P" first="Pernille M" last="T Rring">Pernille M. T Rring</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, 5000 Odense</wicri:regionArea><wicri:noRegion>5000 Odense</wicri:noRegion></affiliation></author><author><name sortKey="Brasch Andersen, Charlotte" sort="Brasch Andersen, Charlotte" uniqKey="Brasch Andersen C" first="Charlotte" last="Brasch-Andersen">Charlotte Brasch-Andersen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark.</nlm:affiliation><country xml:lang="fr">Danemark</country><wicri:regionArea>Department of Clinical Genetics, Odense University Hospital, 5000 Odense</wicri:regionArea><wicri:noRegion>5000 Odense</wicri:noRegion></affiliation></author><author><name sortKey="Ronan, Anne" sort="Ronan, Anne" uniqKey="Ronan A" first="Anne" last="Ronan">Anne Ronan</name><affiliation wicri:level="1"><nlm:affiliation>Hunter Genetics, Waratah, NSW 2298, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Hunter Genetics, Waratah, NSW 2298</wicri:regionArea><wicri:noRegion>NSW 2298</wicri:noRegion></affiliation></author><author><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden</wicri:regionArea><wicri:noRegion>2333 ZA Leiden</wicri:noRegion></affiliation></author><author><name sortKey="Anderson, Peter J" sort="Anderson, Peter J" uniqKey="Anderson P" first="Peter J" last="Anderson">Peter J. Anderson</name><affiliation wicri:level="1"><nlm:affiliation>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Australian Craniofacial Unit, Women's and Children's Hospital, North Adelaide, SA 5006</wicri:regionArea><wicri:noRegion>SA 5006</wicri:noRegion></affiliation></author><author><name sortKey="Powis, Zoe" sort="Powis, Zoe" uniqKey="Powis Z" first="Zöe" last="Powis">Zöe Powis</name><affiliation wicri:level="2"><nlm:affiliation>Ambry Genetics, Aliso Viejo, CA 92656, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>Ambry Genetics, Aliso Viejo, CA 92656</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Schuurs Hoeijmakers, Janneke H M" sort="Schuurs Hoeijmakers, Janneke H M" uniqKey="Schuurs Hoeijmakers J" first="Janneke H M" last="Schuurs-Hoeijmakers">Janneke H M. Schuurs-Hoeijmakers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Lelieveld, Stefan" sort="Lelieveld, Stefan" uniqKey="Lelieveld S" first="Stefan" last="Lelieveld">Stefan Lelieveld</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. Vissers</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><nlm:affiliation>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000, Australia.</nlm:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine and Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; South Australian Health and Medical Research Institute, Adelaide, SA 5000</wicri:regionArea><wicri:noRegion>SA 5000</wicri:noRegion></affiliation></author><author><name sortKey="Koolen, David A" sort="Koolen, David A" uniqKey="Koolen D" first="David A" last="Koolen">David A. Koolen</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author><author><name sortKey="Testa, Giuseppe" sort="Testa, Giuseppe" uniqKey="Testa G" first="Giuseppe" last="Testa">Giuseppe Testa</name><affiliation wicri:level="1"><nlm:affiliation>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan, Italy. Electronic address: giuseppe.testa@unimi.it.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Laboratory of Stem Cell Epigenetics, Department of Experimental Oncology, European Institute of Oncology, Milan 20139, Italy; Department of Oncology and Hemato-Oncology, University of Milan, 20122 Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><affiliation wicri:level="1"><nlm:affiliation>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Pays-Bas</country><wicri:regionArea>Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen</wicri:regionArea><wicri:noRegion>6500 HB Nijmegen</wicri:noRegion></affiliation></author></analytic><series><title level="j">American journal of human genetics</title><idno type="eISSN">1537-6605</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Acetylation</term><term>Adolescent</term><term>Base Sequence</term><term>Child, Preschool</term><term>Chromatin (metabolism)</term><term>Chromatin Immunoprecipitation</term><term>Cohort Studies</term><term>Enhancer Elements, Genetic (genetics)</term><term>Female</term><term>Gene Ontology</term><term>Haploinsufficiency (genetics)</term><term>Haplotypes (genetics)</term><term>Hemizygote</term><term>Histones (metabolism)</term><term>Humans</term><term>Intellectual Disability (genetics)</term><term>Lymphocytes (metabolism)</term><term>Male</term><term>Methylation</term><term>Models, Molecular</term><term>Mutation, Missense (genetics)</term><term>Protein Binding (genetics)</term><term>Protein Domains</term><term>Transcription, Genetic</term><term>YY1 Transcription Factor (chemistry)</term><term>YY1 Transcription Factor (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Acétylation</term><term>Adolescent</term><term>Chromatine (métabolisme)</term><term>Domaines protéiques</term><term>Déficience intellectuelle (génétique)</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription YY1 ()</term><term>Facteur de transcription YY1 (génétique)</term><term>Femelle</term><term>Gene Ontology</term><term>Haploinsuffisance (génétique)</term><term>Haplotypes (génétique)</term><term>Histone (métabolisme)</term><term>Humains</term><term>Hémizygote</term><term>Immunoprécipitation de la chromatine</term><term>Liaison aux protéines (génétique)</term><term>Lymphocytes (métabolisme)</term><term>Modèles moléculaires</term><term>Mutation faux-sens (génétique)</term><term>Mâle</term><term>Méthylation</term><term>Séquence nucléotidique</term><term>Transcription génétique</term><term>Éléments activateurs (génétique) (génétique)</term><term>Études de cohortes</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>YY1 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>YY1 Transcription Factor</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Chromatin</term><term>Histones</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Enhancer Elements, Genetic</term><term>Haploinsufficiency</term><term>Haplotypes</term><term>Intellectual Disability</term><term>Mutation, Missense</term><term>Protein Binding</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Déficience intellectuelle</term><term>Facteur de transcription YY1</term><term>Haploinsuffisance</term><term>Haplotypes</term><term>Liaison aux protéines</term><term>Mutation faux-sens</term><term>Éléments activateurs (génétique)</term></keywords><keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Lymphocytes</term></keywords><keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>Chromatine</term><term>Histone</term><term>Lymphocytes</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Acetylation</term><term>Adolescent</term><term>Base Sequence</term><term>Child, Preschool</term><term>Chromatin Immunoprecipitation</term><term>Cohort Studies</term><term>Female</term><term>Gene Ontology</term><term>Hemizygote</term><term>Humans</term><term>Male</term><term>Methylation</term><term>Models, Molecular</term><term>Protein Domains</term><term>Transcription, Genetic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Acétylation</term><term>Adolescent</term><term>Domaines protéiques</term><term>Enfant d'âge préscolaire</term><term>Facteur de transcription YY1</term><term>Femelle</term><term>Gene Ontology</term><term>Humains</term><term>Hémizygote</term><term>Immunoprécipitation de la chromatine</term><term>Modèles moléculaires</term><term>Mâle</term><term>Méthylation</term><term>Séquence nucléotidique</term><term>Transcription génétique</term><term>Études de cohortes</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define "YY1 syndrome" as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals' cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Danemark</li><li>France</li><li>Irlande (pays)</li><li>Italie</li><li>Japon</li><li>Norvège</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>États-Unis</li></country><region><li>Californie</li><li>Canton de Zurich</li><li>Haute-Normandie</li><li>Hovedstaden</li><li>Lombardie</li><li>Région Normandie</li><li>Région de Kantō</li><li>Texas</li><li>Østlandet</li></region><settlement><li>Copenhague</li><li>Milan</li><li>Oslo</li><li>Rouen</li><li>Tokyo</li><li>Zurich</li></settlement><orgName><li>Université de Zurich</li></orgName></list><tree><country name="Italie"><region name="Lombardie"><name sortKey="Gabriele, Michele" sort="Gabriele, Michele" uniqKey="Gabriele M" first="Michele" last="Gabriele">Michele Gabriele</name></region><name sortKey="Germain, Pierre Luc" sort="Germain, Pierre Luc" uniqKey="Germain P" first="Pierre-Luc" last="Germain">Pierre-Luc Germain</name><name sortKey="Testa, Giuseppe" sort="Testa, Giuseppe" uniqKey="Testa G" first="Giuseppe" last="Testa">Giuseppe Testa</name><name sortKey="Vitriolo, Alessandro" sort="Vitriolo, Alessandro" uniqKey="Vitriolo A" first="Alessandro" last="Vitriolo">Alessandro Vitriolo</name></country><country name="Pays-Bas"><noRegion><name sortKey="Vulto Van Silfhout, Anneke T" sort="Vulto Van Silfhout, Anneke T" uniqKey="Vulto Van Silfhout A" first="Anneke T" last="Vulto-Van Silfhout">Anneke T. Vulto-Van Silfhout</name></noRegion><name sortKey="Brunner, Han G" sort="Brunner, Han G" uniqKey="Brunner H" first="Han G" last="Brunner">Han G. Brunner</name><name sortKey="De Vries, Bert B A" sort="De Vries, Bert B A" uniqKey="De Vries B" first="Bert B A" last="De Vries">Bert B A. De Vries</name><name sortKey="Gilissen, Christian" sort="Gilissen, Christian" uniqKey="Gilissen C" first="Christian" last="Gilissen">Christian Gilissen</name><name sortKey="Koolen, David A" sort="Koolen, David A" uniqKey="Koolen D" first="David A" last="Koolen">David A. Koolen</name><name sortKey="Lelieveld, Stefan" sort="Lelieveld, Stefan" uniqKey="Lelieveld S" first="Stefan" last="Lelieveld">Stefan Lelieveld</name><name sortKey="Nillesen, Willy M" sort="Nillesen, Willy M" uniqKey="Nillesen W" first="Willy M" last="Nillesen">Willy M. Nillesen</name><name sortKey="Pfundt, Rolph" sort="Pfundt, Rolph" uniqKey="Pfundt R" first="Rolph" last="Pfundt">Rolph Pfundt</name><name sortKey="Schuurs Hoeijmakers, Janneke H M" sort="Schuurs Hoeijmakers, Janneke H M" uniqKey="Schuurs Hoeijmakers J" first="Janneke H M" last="Schuurs-Hoeijmakers">Janneke H M. Schuurs-Hoeijmakers</name><name sortKey="Van Bon, Bregje W M" sort="Van Bon, Bregje W M" uniqKey="Van Bon B" first="Bregje W M" last="Van Bon">Bregje W M. Van Bon</name><name sortKey="Van Haeringen, Arie" sort="Van Haeringen, Arie" uniqKey="Van Haeringen A" first="Arie" last="Van Haeringen">Arie Van Haeringen</name><name sortKey="Vissers, Lisenka E L M" sort="Vissers, Lisenka E L M" uniqKey="Vissers L" first="Lisenka E L M" last="Vissers">Lisenka E L M. 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Pedurupillay</name><name sortKey="Stromme, Petter" sort="Stromme, Petter" uniqKey="Stromme P" first="Petter" last="Stromme">Petter Stromme</name></country><country name="États-Unis"><region name="Texas"><name sortKey="Rosenfeld, Jill A" sort="Rosenfeld, Jill A" uniqKey="Rosenfeld J" first="Jill A" last="Rosenfeld">Jill A. Rosenfeld</name></region><name sortKey="Craigen, William J" sort="Craigen, William J" uniqKey="Craigen W" first="William J" last="Craigen">William J. Craigen</name><name sortKey="Farach, Laura" sort="Farach, Laura" uniqKey="Farach L" first="Laura" last="Farach">Laura Farach</name><name sortKey="Friedman, Jennifer" sort="Friedman, Jennifer" uniqKey="Friedman J" first="Jennifer" last="Friedman">Jennifer Friedman</name><name sortKey="Mclean, Scott D" sort="Mclean, Scott D" uniqKey="Mclean S" first="Scott D" last="Mclean">Scott D. Mclean</name><name sortKey="Nugent, Kimberly M" sort="Nugent, Kimberly M" uniqKey="Nugent K" first="Kimberly M" last="Nugent">Kimberly M. 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Schaaf</name><name sortKey="Shao, Yunru" sort="Shao, Yunru" uniqKey="Shao Y" first="Yunru" last="Shao">Yunru Shao</name><name sortKey="Stray Pedersen, Asbj Rg" sort="Stray Pedersen, Asbj Rg" uniqKey="Stray Pedersen A" first="Asbj Rg" last="Stray-Pedersen">Asbj Rg Stray-Pedersen</name><name sortKey="Thulin, Perla" sort="Thulin, Perla" uniqKey="Thulin P" first="Perla" last="Thulin">Perla Thulin</name></country><country name="Royaume-Uni"><noRegion><name sortKey="Morton, Jenny" sort="Morton, Jenny" uniqKey="Morton J" first="Jenny" last="Morton">Jenny Morton</name></noRegion></country><country name="France"><noRegion><name sortKey="Andrieux, Joris" sort="Andrieux, Joris" uniqKey="Andrieux J" first="Joris" last="Andrieux">Joris Andrieux</name></noRegion><name sortKey="Chambon, Pascal" sort="Chambon, Pascal" uniqKey="Chambon P" first="Pascal" last="Chambon">Pascal Chambon</name><name sortKey="Patrier, Sophie" sort="Patrier, Sophie" uniqKey="Patrier S" first="Sophie" last="Patrier">Sophie Patrier</name></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Sally A" sort="Lynch, Sally A" uniqKey="Lynch S" first="Sally A" last="Lynch">Sally A. Lynch</name></noRegion></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Kjaergaard, Susanne" sort="Kjaergaard, Susanne" uniqKey="Kjaergaard S" first="Susanne" last="Kjaergaard">Susanne Kjaergaard</name></region><name sortKey="Brasch Andersen, Charlotte" sort="Brasch Andersen, Charlotte" uniqKey="Brasch Andersen C" first="Charlotte" last="Brasch-Andersen">Charlotte Brasch-Andersen</name><name sortKey="T Rring, Pernille M" sort="T Rring, Pernille M" uniqKey="T Rring P" first="Pernille M" last="T Rring">Pernille M. T Rring</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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