PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Identifieur interne : 012F84 ( Main/Exploration ); précédent : 012F83; suivant : 012F85PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution
Auteurs : Ghayda Mirzaa [États-Unis] ; Andrew E. Timms [États-Unis] ; Valerio Conti [Italie] ; Evan August Boyle [États-Unis] ; Katta M. Girisha [Inde] ; Beth Martin [États-Unis] ; Martin Kircher [États-Unis] ; Carissa Olds ; Jane Juusola [États-Unis] ; Sarah Collins ; Kaylee Park ; Melissa Carter [Canada] ; Ian Glass [États-Unis] ; Inge Kr Geloh-Mann [Allemagne] ; David Chitayat [Canada] ; Aditi Shah Parikh [États-Unis] ; Rachael Bradshaw [États-Unis] ; Erin Torti [États-Unis] ; Stephen Braddock [États-Unis] ; Leah Burke [États-Unis] ; Sondhya Ghedia [Australie] ; Mark Stephan [États-Unis] ; Fiona Stewart [Royaume-Uni] ; Chitra Prasad [Canada] ; Melanie Napier [Canada] ; Sulagna Saitta [États-Unis] ; Rachel Straussberg [Israël] ; Michael Gabbett [Australie] ; Bridget C. O Onnor [États-Unis] ; Catherine E. Keegan [États-Unis] ; Lim Jiin Yin [Singapour] ; Angeline Hwei Meeng Lai [Singapour] ; Nicole Martin [Canada] ; Margaret Mckinnon [Canada] ; Marie-Claude Addor [Suisse] ; Luigi Boccuto [États-Unis] ; Charles E. Schwartz [États-Unis] ; Agustina Lanoel [Argentine] ; Robert L. Conway [États-Unis] ; Koenraad Devriendt [Belgique] ; Katrina Tatton-Brown [Royaume-Uni] ; Mary Ella Pierpont [États-Unis] ; Michael Painter [États-Unis] ; Lisa Worgan [Australie] ; James Reggin [États-Unis] ; Raoul Hennekam [Pays-Bas] ; Karen Tsuchiya [États-Unis] ; Colin C. Pritchard [États-Unis] ; Mariana Aracena [Chili] ; Karen W. Gripp [États-Unis] ; Maria Cordisco [États-Unis] ; Hilde Van Esch [Belgique] ; Livia Garavelli [Italie] ; Cynthia Curry [États-Unis] ; Anne Goriely [Royaume-Uni] ; Hulya Kayserilli [Turquie] ; Jay Shendure [États-Unis] ; John Graham [États-Unis] ; Renzo Guerrini [Italie] ; William B. Dobyns [États-Unis]Source :
- JCI Insight [ 2379-3708 ] ; ????.
Abstract
Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of
Url:
DOI: 10.1172/jci.insight.87623
PubMed: 27631024
PubMed Central: 5019182
Affiliations:
- Allemagne, Argentine, Australie, Belgique, Canada, Chili, Inde, Israël, Italie, Pays-Bas, Royaume-Uni, Singapour, Suisse, Turquie, États-Unis
- Angleterre, Bade-Wurtemberg, Californie, Caroline du Sud, Delaware, District de Tübingen, Floride, Hollande-Septentrionale, Maryland, Michigan, Minnesota, Missouri (État), Ohio, Ontario, Oxfordshire, Vermont, Washington (État), État de New York
- Amsterdam, Los Angeles, Oxford, Seattle, Toronto, Tübingen
- Université d'Oxford, Université de Californie du Sud, Université de Toronto, Université de Washington
Links toward previous steps (curation, corpus...)
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Le document en format XML
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-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution</title>
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<author><name sortKey="Conti, Valerio" sort="Conti, Valerio" uniqKey="Conti V" first="Valerio" last="Conti">Valerio Conti</name>
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<author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name>
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<author><name sortKey="Girisha, Katta M" sort="Girisha, Katta M" uniqKey="Girisha K" first="Katta M." last="Girisha">Katta M. Girisha</name>
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<author><name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name>
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<author><name sortKey="Kircher, Martin" sort="Kircher, Martin" uniqKey="Kircher M" first="Martin" last="Kircher">Martin Kircher</name>
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<author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name>
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<author><name sortKey="Juusola, Jane" sort="Juusola, Jane" uniqKey="Juusola J" first="Jane" last="Juusola">Jane Juusola</name>
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<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
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<author><name sortKey="Park, Kaylee" sort="Park, Kaylee" uniqKey="Park K" first="Kaylee" last="Park">Kaylee Park</name>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
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<author><name sortKey="Carter, Melissa" sort="Carter, Melissa" uniqKey="Carter M" first="Melissa" last="Carter">Melissa Carter</name>
<affiliation wicri:level="1"><nlm:aff id="A9">Regional Genetics Program, The Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Regional Genetics Program, The Children’s Hospital of Eastern Ontario, Ottawa, Ontario</wicri:regionArea>
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<author><name sortKey="Glass, Ian" sort="Glass, Ian" uniqKey="Glass I" first="Ian" last="Glass">Ian Glass</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
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<author><name sortKey="Kr Geloh Mann, Inge" sort="Kr Geloh Mann, Inge" uniqKey="Kr Geloh Mann I" first="Inge" last="Kr Geloh-Mann">Inge Kr Geloh-Mann</name>
<affiliation wicri:level="3"><nlm:aff id="A10">Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen</wicri:regionArea>
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<author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
<affiliation><nlm:aff wicri:cut=", and" id="A11">Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Division, Department of Obstetrics and Gynecology</nlm:aff>
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</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff>
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<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario</wicri:regionArea>
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<author><name sortKey="Parikh, Aditi Shah" sort="Parikh, Aditi Shah" uniqKey="Parikh A" first="Aditi Shah" last="Parikh">Aditi Shah Parikh</name>
<affiliation wicri:level="2"><nlm:aff id="A13">Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.</nlm:aff>
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<author><name sortKey="Bradshaw, Rachael" sort="Bradshaw, Rachael" uniqKey="Bradshaw R" first="Rachael" last="Bradshaw">Rachael Bradshaw</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
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<author><name sortKey="Torti, Erin" sort="Torti, Erin" uniqKey="Torti E" first="Erin" last="Torti">Erin Torti</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri</wicri:regionArea>
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</placeName>
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<author><name sortKey="Braddock, Stephen" sort="Braddock, Stephen" uniqKey="Braddock S" first="Stephen" last="Braddock">Stephen Braddock</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burke, Leah" sort="Burke, Leah" uniqKey="Burke L" first="Leah" last="Burke">Leah Burke</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont</wicri:regionArea>
<placeName><region type="state">Vermont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ghedia, Sondhya" sort="Ghedia, Sondhya" uniqKey="Ghedia S" first="Sondhya" last="Ghedia">Sondhya Ghedia</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stephan, Mark" sort="Stephan, Mark" uniqKey="Stephan M" first="Mark" last="Stephan">Mark Stephan</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
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</affiliation>
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<author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name>
<affiliation wicri:level="1"><nlm:aff id="A17">Belfast Health and Social Care Trust, Belfast, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Belfast Health and Social Care Trust, Belfast</wicri:regionArea>
<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prasad, Chitra" sort="Prasad, Chitra" uniqKey="Prasad C" first="Chitra" last="Prasad">Chitra Prasad</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Genetics, Metabolism and Pediatrics, London, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Genetics, Metabolism and Pediatrics, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Napier, Melanie" sort="Napier, Melanie" uniqKey="Napier M" first="Melanie" last="Napier">Melanie Napier</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Genetics, Metabolism and Pediatrics, London, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Genetics, Metabolism and Pediatrics, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</name>
<affiliation wicri:level="4"><nlm:aff id="A19">Clinical Genetics, Center for Personalized Medicine, Children’s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Clinical Genetics, Center for Personalized Medicine, Children’s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
<settlement type="city">Los Angeles</settlement>
</placeName>
<orgName type="university">Université de Californie du Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name>
<affiliation wicri:level="1"><nlm:aff id="A20">Neurology Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Israël</country>
<wicri:regionArea>Neurology Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea>
<wicri:noRegion>Tel Aviv</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gabbett, Michael" sort="Gabbett, Michael" uniqKey="Gabbett M" first="Michael" last="Gabbett">Michael Gabbett</name>
<affiliation wicri:level="1"><nlm:aff id="A21">School of Medicine, Griffith University, Brisbane, Queensland, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Medicine, Griffith University, Brisbane, Queensland</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="O Onnor, Bridget C" sort="O Onnor, Bridget C" uniqKey="O Onnor B" first="Bridget C." last="O Onnor">Bridget C. O Onnor</name>
<affiliation><nlm:aff wicri:cut=", and" id="A22">Division of Genetics, Department of Pediatrics</nlm:aff>
<wicri:noCountry code="subfield">Department of Pediatrics</wicri:noCountry>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Keegan, Catherine E" sort="Keegan, Catherine E" uniqKey="Keegan C" first="Catherine E." last="Keegan">Catherine E. Keegan</name>
<affiliation><nlm:aff wicri:cut=", and" id="A22">Division of Genetics, Department of Pediatrics</nlm:aff>
<wicri:noCountry code="subfield">Department of Pediatrics</wicri:noCountry>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yin, Lim Jiin" sort="Yin, Lim Jiin" uniqKey="Yin L" first="Lim Jiin" last="Yin">Lim Jiin Yin</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Lai, Angeline Hwei Meeng" sort="Lai, Angeline Hwei Meeng" uniqKey="Lai A" first="Angeline Hwei Meeng" last="Lai">Angeline Hwei Meeng Lai</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital</wicri:regionArea>
<wicri:noRegion>KK Women’s and Children’s Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mckinnon, Margaret" sort="Mckinnon, Margaret" uniqKey="Mckinnon M" first="Margaret" last="Mckinnon">Margaret Mckinnon</name>
<affiliation wicri:level="1"><nlm:aff id="A25">British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
<wicri:noRegion>British Columbia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV</wicri:regionArea>
<wicri:noRegion>Centre Hospitalier Universitaire Vaudois CHUV</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boccuto, Luigi" sort="Boccuto, Luigi" uniqKey="Boccuto L" first="Luigi" last="Boccuto">Luigi Boccuto</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Greenwood Genetic Center, Greenwood, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Greenwood Genetic Center, Greenwood, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name>
<affiliation wicri:level="1"><nlm:aff id="A28">Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Argentine</country>
<wicri:regionArea>Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Conway, Robert L" sort="Conway, Robert L" uniqKey="Conway R" first="Robert L." last="Conway">Robert L. Conway</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Children’s Hospital of Michigan, Wayne State University, Detroit, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Children’s Hospital of Michigan, Wayne State University, Detroit, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tatton Brown, Katrina" sort="Tatton Brown, Katrina" uniqKey="Tatton Brown K" first="Katrina" last="Tatton-Brown">Katrina Tatton-Brown</name>
<affiliation wicri:level="1"><nlm:aff id="A31">South West Thames Regional Genetics Service, St George’s University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>South West Thames Regional Genetics Service, St George’s University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton</wicri:regionArea>
<wicri:noRegion>Sutton</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pierpont, Mary Ella" sort="Pierpont, Mary Ella" uniqKey="Pierpont M" first="Mary Ella" last="Pierpont">Mary Ella Pierpont</name>
<affiliation wicri:level="2"><nlm:aff id="A32">Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Painter, Michael" sort="Painter, Michael" uniqKey="Painter M" first="Michael" last="Painter">Michael Painter</name>
<affiliation wicri:level="2"><nlm:aff id="A33">Department of Child Neurology, University of Florida, Jacksonville, Florida, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Child Neurology, University of Florida, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Worgan, Lisa" sort="Worgan, Lisa" uniqKey="Worgan L" first="Lisa" last="Worgan">Lisa Worgan</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Department of Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Department of Genetics, Liverpool Hospital, Liverpool, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reggin, James" sort="Reggin, James" uniqKey="Reggin J" first="James" last="Reggin">James Reggin</name>
<affiliation wicri:level="4"><nlm:aff id="A35">Department of Neurology, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A36">Providence Child Neurology, Providence Sacred Heart Medical Center and Children’s Hospital, Spokane, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Providence Child Neurology, Providence Sacred Heart Medical Center and Children’s Hospital, Spokane, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hennekam, Raoul" sort="Hennekam, Raoul" uniqKey="Hennekam R" first="Raoul" last="Hennekam">Raoul Hennekam</name>
<affiliation wicri:level="3"><nlm:aff id="A37">Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam, The Netherlands.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tsuchiya, Karen" sort="Tsuchiya, Karen" uniqKey="Tsuchiya K" first="Karen" last="Tsuchiya">Karen Tsuchiya</name>
<affiliation><nlm:aff wicri:cut=" and" id="A38">Department of Laboratories, Seattle Children’s Hospital</nlm:aff>
<wicri:noCountry code="subfield">Seattle Children’s Hospital</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A39">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Pritchard, Colin C" sort="Pritchard, Colin C" uniqKey="Pritchard C" first="Colin C." last="Pritchard">Colin C. Pritchard</name>
<affiliation wicri:level="4"><nlm:aff id="A39">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Aracena, Mariana" sort="Aracena, Mariana" uniqKey="Aracena M" first="Mariana" last="Aracena">Mariana Aracena</name>
<affiliation wicri:level="1"><nlm:aff id="A40">División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Chili</country>
<wicri:regionArea>División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago</wicri:regionArea>
<wicri:noRegion>Santiago</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
<affiliation wicri:level="2"><nlm:aff id="A41">Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware</wicri:regionArea>
<placeName><region type="state">Delaware</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name>
<affiliation wicri:level="2"><nlm:aff id="A42">Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
<affiliation wicri:level="1"><nlm:aff id="A43">Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<affiliation wicri:level="1"><nlm:aff id="A44">Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia</wicri:regionArea>
<wicri:noRegion>Reggio Emilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curry, Cynthia" sort="Curry, Cynthia" uniqKey="Curry C" first="Cynthia" last="Curry">Cynthia Curry</name>
<affiliation wicri:level="2"><nlm:aff id="A45">University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goriely, Anne" sort="Goriely, Anne" uniqKey="Goriely A" first="Anne" last="Goriely">Anne Goriely</name>
<affiliation wicri:level="4"><nlm:aff id="A46">Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Weatherall Institute of Molecular Medicine, University of Oxford, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Kayserilli, Hulya" sort="Kayserilli, Hulya" uniqKey="Kayserilli H" first="Hulya" last="Kayserilli">Hulya Kayserilli</name>
<affiliation wicri:level="1"><nlm:aff id="A47">Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul, Turkey.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul</wicri:regionArea>
<wicri:noRegion>Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Genome Sciences, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A48">Howard Hughes Medical Institute, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Graham, John" sort="Graham, John" uniqKey="Graham J" first="John" last="Graham">John Graham</name>
<affiliation wicri:level="2"><nlm:aff id="A49">Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A35">Department of Neurology, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>PIK3CA</italic>
-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution</title>
<author><name sortKey="Mirzaa, Ghayda" sort="Mirzaa, Ghayda" uniqKey="Mirzaa G" first="Ghayda" last="Mirzaa">Ghayda Mirzaa</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Timms, Andrew E" sort="Timms, Andrew E" uniqKey="Timms A" first="Andrew E." last="Timms">Andrew E. Timms</name>
<affiliation wicri:level="2"><nlm:aff id="A3">Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Center for Developmental Biology and Regenerative Medicine, Seattle Children’s Research Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Conti, Valerio" sort="Conti, Valerio" uniqKey="Conti V" first="Valerio" last="Conti">Valerio Conti</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boyle, Evan August" sort="Boyle, Evan August" uniqKey="Boyle E" first="Evan August" last="Boyle">Evan August Boyle</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Department of Genetics, Stanford University School of Medicine, Stanford, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genetics, Stanford University School of Medicine, Stanford, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Girisha, Katta M" sort="Girisha, Katta M" uniqKey="Girisha K" first="Katta M." last="Girisha">Katta M. Girisha</name>
<affiliation wicri:level="1"><nlm:aff id="A6">Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka, India.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Inde</country>
<wicri:regionArea>Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, Karnataka</wicri:regionArea>
<wicri:noRegion>Karnataka</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martin, Beth" sort="Martin, Beth" uniqKey="Martin B" first="Beth" last="Martin">Beth Martin</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Genome Sciences, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Kircher, Martin" sort="Kircher, Martin" uniqKey="Kircher M" first="Martin" last="Kircher">Martin Kircher</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Genome Sciences, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Olds, Carissa" sort="Olds, Carissa" uniqKey="Olds C" first="Carissa" last="Olds">Carissa Olds</name>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Juusola, Jane" sort="Juusola, Jane" uniqKey="Juusola J" first="Jane" last="Juusola">Jane Juusola</name>
<affiliation wicri:level="2"><nlm:aff id="A8">Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Whole Exome Sequencing Program, GeneDx, Gaithersburg, Maryland</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Collins, Sarah" sort="Collins, Sarah" uniqKey="Collins S" first="Sarah" last="Collins">Sarah Collins</name>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Park, Kaylee" sort="Park, Kaylee" uniqKey="Park K" first="Kaylee" last="Park">Kaylee Park</name>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Carter, Melissa" sort="Carter, Melissa" uniqKey="Carter M" first="Melissa" last="Carter">Melissa Carter</name>
<affiliation wicri:level="1"><nlm:aff id="A9">Regional Genetics Program, The Children’s Hospital of Eastern Ontario, Ottawa, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Regional Genetics Program, The Children’s Hospital of Eastern Ontario, Ottawa, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Glass, Ian" sort="Glass, Ian" uniqKey="Glass I" first="Ian" last="Glass">Ian Glass</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
</author>
<author><name sortKey="Kr Geloh Mann, Inge" sort="Kr Geloh Mann, Inge" uniqKey="Kr Geloh Mann I" first="Inge" last="Kr Geloh-Mann">Inge Kr Geloh-Mann</name>
<affiliation wicri:level="3"><nlm:aff id="A10">Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen, Germany.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Allemagne</country>
<wicri:regionArea>Department of Pediatrics, and Pediatric Neurology and Developmental Medicine, University Children’s Hospital, Tübingen</wicri:regionArea>
<placeName><region type="land" nuts="1">Bade-Wurtemberg</region>
<region type="district" nuts="2">District de Tübingen</region>
<settlement type="city">Tübingen</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chitayat, David" sort="Chitayat, David" uniqKey="Chitayat D" first="David" last="Chitayat">David Chitayat</name>
<affiliation><nlm:aff wicri:cut=", and" id="A11">Mount Sinai Hospital, The Prenatal Diagnosis and Medical Genetics Division, Department of Obstetrics and Gynecology</nlm:aff>
<wicri:noCountry code="subfield">Department of Obstetrics and Gynecology</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Parikh, Aditi Shah" sort="Parikh, Aditi Shah" uniqKey="Parikh A" first="Aditi Shah" last="Parikh">Aditi Shah Parikh</name>
<affiliation wicri:level="2"><nlm:aff id="A13">Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Case Medical Center, Cleveland, Ohio</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bradshaw, Rachael" sort="Bradshaw, Rachael" uniqKey="Bradshaw R" first="Rachael" last="Bradshaw">Rachael Bradshaw</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Torti, Erin" sort="Torti, Erin" uniqKey="Torti E" first="Erin" last="Torti">Erin Torti</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Braddock, Stephen" sort="Braddock, Stephen" uniqKey="Braddock S" first="Stephen" last="Braddock">Stephen Braddock</name>
<affiliation wicri:level="2"><nlm:aff id="A14">Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Division of Medical Genetics, Saint Louis University, St. Louis, Missouri</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Burke, Leah" sort="Burke, Leah" uniqKey="Burke L" first="Leah" last="Burke">Leah Burke</name>
<affiliation wicri:level="2"><nlm:aff id="A15">Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, University of Vermont College of Medicine, Burlington, Vermont</wicri:regionArea>
<placeName><region type="state">Vermont</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ghedia, Sondhya" sort="Ghedia, Sondhya" uniqKey="Ghedia S" first="Sondhya" last="Ghedia">Sondhya Ghedia</name>
<affiliation wicri:level="1"><nlm:aff id="A16">Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Stephan, Mark" sort="Stephan, Mark" uniqKey="Stephan M" first="Mark" last="Stephan">Mark Stephan</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Stewart, Fiona" sort="Stewart, Fiona" uniqKey="Stewart F" first="Fiona" last="Stewart">Fiona Stewart</name>
<affiliation wicri:level="1"><nlm:aff id="A17">Belfast Health and Social Care Trust, Belfast, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Belfast Health and Social Care Trust, Belfast</wicri:regionArea>
<wicri:noRegion>Belfast</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Prasad, Chitra" sort="Prasad, Chitra" uniqKey="Prasad C" first="Chitra" last="Prasad">Chitra Prasad</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Genetics, Metabolism and Pediatrics, London, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Genetics, Metabolism and Pediatrics, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Napier, Melanie" sort="Napier, Melanie" uniqKey="Napier M" first="Melanie" last="Napier">Melanie Napier</name>
<affiliation wicri:level="1"><nlm:aff id="A18">Genetics, Metabolism and Pediatrics, London, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Genetics, Metabolism and Pediatrics, London, Ontario</wicri:regionArea>
<wicri:noRegion>Ontario</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Saitta, Sulagna" sort="Saitta, Sulagna" uniqKey="Saitta S" first="Sulagna" last="Saitta">Sulagna Saitta</name>
<affiliation wicri:level="4"><nlm:aff id="A19">Clinical Genetics, Center for Personalized Medicine, Children’s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Clinical Genetics, Center for Personalized Medicine, Children’s Hospital Los Angeles, Keck School of Medicine at University of Southern California, Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
<settlement type="city">Los Angeles</settlement>
</placeName>
<orgName type="university">Université de Californie du Sud</orgName>
</affiliation>
</author>
<author><name sortKey="Straussberg, Rachel" sort="Straussberg, Rachel" uniqKey="Straussberg R" first="Rachel" last="Straussberg">Rachel Straussberg</name>
<affiliation wicri:level="1"><nlm:aff id="A20">Neurology Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Israël</country>
<wicri:regionArea>Neurology Unit, Schneider Children’s Medical Center of Israel, Petach Tikva, and Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea>
<wicri:noRegion>Tel Aviv</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gabbett, Michael" sort="Gabbett, Michael" uniqKey="Gabbett M" first="Michael" last="Gabbett">Michael Gabbett</name>
<affiliation wicri:level="1"><nlm:aff id="A21">School of Medicine, Griffith University, Brisbane, Queensland, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>School of Medicine, Griffith University, Brisbane, Queensland</wicri:regionArea>
<wicri:noRegion>Queensland</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="O Onnor, Bridget C" sort="O Onnor, Bridget C" uniqKey="O Onnor B" first="Bridget C." last="O Onnor">Bridget C. O Onnor</name>
<affiliation><nlm:aff wicri:cut=", and" id="A22">Division of Genetics, Department of Pediatrics</nlm:aff>
<wicri:noCountry code="subfield">Department of Pediatrics</wicri:noCountry>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Keegan, Catherine E" sort="Keegan, Catherine E" uniqKey="Keegan C" first="Catherine E." last="Keegan">Catherine E. Keegan</name>
<affiliation><nlm:aff wicri:cut=", and" id="A22">Division of Genetics, Department of Pediatrics</nlm:aff>
<wicri:noCountry code="subfield">Department of Pediatrics</wicri:noCountry>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A23">Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Human Genetics, University of Michigan, Ann Arbor, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yin, Lim Jiin" sort="Yin, Lim Jiin" uniqKey="Yin L" first="Lim Jiin" last="Yin">Lim Jiin Yin</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital</wicri:regionArea>
<wicri:noRegion>KK Women’s and Children’s Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lai, Angeline Hwei Meeng" sort="Lai, Angeline Hwei Meeng" uniqKey="Lai A" first="Angeline Hwei Meeng" last="Lai">Angeline Hwei Meeng Lai</name>
<affiliation wicri:level="1"><nlm:aff id="A24">Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Singapour</country>
<wicri:regionArea>Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital</wicri:regionArea>
<wicri:noRegion>KK Women’s and Children’s Hospital</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Martin, Nicole" sort="Martin, Nicole" uniqKey="Martin N" first="Nicole" last="Martin">Nicole Martin</name>
<affiliation wicri:level="4"><nlm:aff id="A12">Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>Department of Pediatrics, Division of Clinical and Metabolic Genetics, University of Toronto, Toronto, Ontario</wicri:regionArea>
<orgName type="university">Université de Toronto</orgName>
<placeName><settlement type="city">Toronto</settlement>
<region type="state">Ontario</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mckinnon, Margaret" sort="Mckinnon, Margaret" uniqKey="Mckinnon M" first="Margaret" last="Mckinnon">Margaret Mckinnon</name>
<affiliation wicri:level="1"><nlm:aff id="A25">British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia, Canada.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Canada</country>
<wicri:regionArea>British Columbia Medical Genetics Provincial Program, University of British Columbia, Vancouver, British Columbia</wicri:regionArea>
<wicri:noRegion>British Columbia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Addor, Marie Claude" sort="Addor, Marie Claude" uniqKey="Addor M" first="Marie-Claude" last="Addor">Marie-Claude Addor</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV, Switzerland.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Suisse</country>
<wicri:regionArea>Service de génétique médicale, Centre Hospitalier Universitaire Vaudois CHUV</wicri:regionArea>
<wicri:noRegion>Centre Hospitalier Universitaire Vaudois CHUV</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boccuto, Luigi" sort="Boccuto, Luigi" uniqKey="Boccuto L" first="Luigi" last="Boccuto">Luigi Boccuto</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Greenwood Genetic Center, Greenwood, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Greenwood Genetic Center, Greenwood, South Carolina, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Greenwood Genetic Center, Greenwood, South Carolina</wicri:regionArea>
<placeName><region type="state">Caroline du Sud</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lanoel, Agustina" sort="Lanoel, Agustina" uniqKey="Lanoel A" first="Agustina" last="Lanoel">Agustina Lanoel</name>
<affiliation wicri:level="1"><nlm:aff id="A28">Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires, Argentina.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Argentine</country>
<wicri:regionArea>Department of Dermatology, Children Hospital Prof. Dr. J. P. Garrahan, Buenos Aires</wicri:regionArea>
<wicri:noRegion>Buenos Aires</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Conway, Robert L" sort="Conway, Robert L" uniqKey="Conway R" first="Robert L." last="Conway">Robert L. Conway</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Children’s Hospital of Michigan, Wayne State University, Detroit, Michigan, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Children’s Hospital of Michigan, Wayne State University, Detroit, Michigan</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name>
<affiliation wicri:level="1"><nlm:aff id="A30">Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven and KU Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Tatton Brown, Katrina" sort="Tatton Brown, Katrina" uniqKey="Tatton Brown K" first="Katrina" last="Tatton-Brown">Katrina Tatton-Brown</name>
<affiliation wicri:level="1"><nlm:aff id="A31">South West Thames Regional Genetics Service, St George’s University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>South West Thames Regional Genetics Service, St George’s University NHS Foundation Trust, London, and Section of Cancer Genetics, Institute of Cancer Research, Sutton</wicri:regionArea>
<wicri:noRegion>Sutton</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Pierpont, Mary Ella" sort="Pierpont, Mary Ella" uniqKey="Pierpont M" first="Mary Ella" last="Pierpont">Mary Ella Pierpont</name>
<affiliation wicri:level="2"><nlm:aff id="A32">Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics and Ophthalmology, University of Minnesota, Minneapolis, Minnesota</wicri:regionArea>
<placeName><region type="state">Minnesota</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Painter, Michael" sort="Painter, Michael" uniqKey="Painter M" first="Michael" last="Painter">Michael Painter</name>
<affiliation wicri:level="2"><nlm:aff id="A33">Department of Child Neurology, University of Florida, Jacksonville, Florida, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Child Neurology, University of Florida, Jacksonville, Florida</wicri:regionArea>
<placeName><region type="state">Floride</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Worgan, Lisa" sort="Worgan, Lisa" uniqKey="Worgan L" first="Lisa" last="Worgan">Lisa Worgan</name>
<affiliation wicri:level="1"><nlm:aff id="A34">Department of Genetics, Liverpool Hospital, Liverpool, New South Wales, Australia.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Australie</country>
<wicri:regionArea>Department of Genetics, Liverpool Hospital, Liverpool, New South Wales</wicri:regionArea>
<wicri:noRegion>New South Wales</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Reggin, James" sort="Reggin, James" uniqKey="Reggin J" first="James" last="Reggin">James Reggin</name>
<affiliation wicri:level="4"><nlm:aff id="A35">Department of Neurology, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A36">Providence Child Neurology, Providence Sacred Heart Medical Center and Children’s Hospital, Spokane, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Providence Child Neurology, Providence Sacred Heart Medical Center and Children’s Hospital, Spokane, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hennekam, Raoul" sort="Hennekam, Raoul" uniqKey="Hennekam R" first="Raoul" last="Hennekam">Raoul Hennekam</name>
<affiliation wicri:level="3"><nlm:aff id="A37">Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam, The Netherlands.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Pays-Bas</country>
<wicri:regionArea>Department of Pediatrics and Translational Genetics, Department of Pediatrics, Academic Medical Center, University of Amsterdam Medical Center, Amsterdam</wicri:regionArea>
<placeName><settlement type="city">Amsterdam</settlement>
<region nuts="2" type="province">Hollande-Septentrionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tsuchiya, Karen" sort="Tsuchiya, Karen" uniqKey="Tsuchiya K" first="Karen" last="Tsuchiya">Karen Tsuchiya</name>
<affiliation><nlm:aff wicri:cut=" and" id="A38">Department of Laboratories, Seattle Children’s Hospital</nlm:aff>
<wicri:noCountry code="subfield">Seattle Children’s Hospital</wicri:noCountry>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A39">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Pritchard, Colin C" sort="Pritchard, Colin C" uniqKey="Pritchard C" first="Colin C." last="Pritchard">Colin C. Pritchard</name>
<affiliation wicri:level="4"><nlm:aff id="A39">Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Laboratory Medicine, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
<author><name sortKey="Aracena, Mariana" sort="Aracena, Mariana" uniqKey="Aracena M" first="Mariana" last="Aracena">Mariana Aracena</name>
<affiliation wicri:level="1"><nlm:aff id="A40">División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Chili</country>
<wicri:regionArea>División de Pediatría, Pontificia Universidad Católica de Chile, Pediatra-Genetista, Unidad de Genética, Hospital Dr. Luis Calvo Mackenna, Santiago</wicri:regionArea>
<wicri:noRegion>Santiago</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Gripp, Karen W" sort="Gripp, Karen W" uniqKey="Gripp K" first="Karen W." last="Gripp">Karen W. Gripp</name>
<affiliation wicri:level="2"><nlm:aff id="A41">Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Sidney Kimmel Medical School at T. Jefferson University, Chief of Division of Medical Genetics, A.I. duPont Hospital for Children, Wilmington, Delaware</wicri:regionArea>
<placeName><region type="state">Delaware</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cordisco, Maria" sort="Cordisco, Maria" uniqKey="Cordisco M" first="Maria" last="Cordisco">Maria Cordisco</name>
<affiliation wicri:level="2"><nlm:aff id="A42">Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Departments of Dermatology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Esch, Hilde" sort="Van Esch, Hilde" uniqKey="Van Esch H" first="Hilde" last="Van Esch">Hilde Van Esch</name>
<affiliation wicri:level="1"><nlm:aff id="A43">Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Belgique</country>
<wicri:regionArea>Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven</wicri:regionArea>
<wicri:noRegion>Leuven</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Garavelli, Livia" sort="Garavelli, Livia" uniqKey="Garavelli L" first="Livia" last="Garavelli">Livia Garavelli</name>
<affiliation wicri:level="1"><nlm:aff id="A44">Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Clinical Genetics Unit, IRCCS Santa Maria Nuova Hospital, Reggio Emilia</wicri:regionArea>
<wicri:noRegion>Reggio Emilia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Curry, Cynthia" sort="Curry, Cynthia" uniqKey="Curry C" first="Cynthia" last="Curry">Cynthia Curry</name>
<affiliation wicri:level="2"><nlm:aff id="A45">University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>University of California, San Francisco, San Francisco/Genetic Medicine Central California, San Francisco, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goriely, Anne" sort="Goriely, Anne" uniqKey="Goriely A" first="Anne" last="Goriely">Anne Goriely</name>
<affiliation wicri:level="4"><nlm:aff id="A46">Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, United Kingdom.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Royaume-Uni</country>
<wicri:regionArea>Weatherall Institute of Molecular Medicine, University of Oxford, Oxford</wicri:regionArea>
<placeName><settlement type="city">Oxford</settlement>
<region type="country">Angleterre</region>
<region type="comté" nuts="2">Oxfordshire</region>
<settlement type="city">Oxford</settlement>
</placeName>
<orgName type="university">Université d'Oxford</orgName>
</affiliation>
</author>
<author><name sortKey="Kayserilli, Hulya" sort="Kayserilli, Hulya" uniqKey="Kayserilli H" first="Hulya" last="Kayserilli">Hulya Kayserilli</name>
<affiliation wicri:level="1"><nlm:aff id="A47">Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul, Turkey.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Turquie</country>
<wicri:regionArea>Koç University, School of Medicine, Medical Genetics Department, Koç University Hospital, Istanbul</wicri:regionArea>
<wicri:noRegion>Istanbul</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Shendure, Jay" sort="Shendure, Jay" uniqKey="Shendure J" first="Jay" last="Shendure">Jay Shendure</name>
<affiliation wicri:level="4"><nlm:aff id="A7">Department of Genome Sciences, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Genome Sciences, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A48">Howard Hughes Medical Institute, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Howard Hughes Medical Institute, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Graham, John" sort="Graham, John" uniqKey="Graham J" first="John" last="Graham">John Graham</name>
<affiliation wicri:level="2"><nlm:aff id="A49">Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Pediatrics, Cedars-Sinai Medical Center, Harbor-UCLA Medical Center, David Geffen School of Medicine Los Angeles, California</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name>
<affiliation wicri:level="1"><nlm:aff id="A4">Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence, Italy.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">Italie</country>
<wicri:regionArea>Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children’s Hospital, University of Florence, Florence</wicri:regionArea>
<wicri:noRegion>Florence</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dobyns, William B" sort="Dobyns, William B" uniqKey="Dobyns W" first="William B." last="Dobyns">William B. Dobyns</name>
<affiliation wicri:level="4"><nlm:aff id="A1">Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
<affiliation><nlm:aff wicri:cut=" and" id="A2">Center for Integrative Brain Research</nlm:aff>
</affiliation>
<affiliation wicri:level="4"><nlm:aff id="A35">Department of Neurology, University of Washington, Seattle, Washington, USA.</nlm:aff>
<country xml:lang="fr" wicri:curation="lc">États-Unis</country>
<wicri:regionArea>Department of Neurology, University of Washington, Seattle, Washington</wicri:regionArea>
<placeName><region type="state">Washington (État)</region>
<settlement type="city">Seattle</settlement>
</placeName>
<orgName type="university">Université de Washington</orgName>
</affiliation>
</author>
</analytic>
<series><title level="j">JCI Insight</title>
<idno type="eISSN">2379-3708</idno>
<imprint><date when="????">????</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Mosaicism is increasingly recognized as a cause of developmental disorders with the advent of next-generation sequencing (NGS). Mosaic mutations of <italic>PIK3CA</italic>
have been associated with the widest spectrum of phenotypes associated with overgrowth and vascular malformations. We performed targeted NGS using 2 independent deep-coverage methods that utilize molecular inversion probes and amplicon sequencing in a cohort of 241 samples from 181 individuals with brain and/or body overgrowth. We identified <italic>PIK3CA</italic>
mutations in 60 individuals. Several other individuals (<italic>n</italic>
= 12) were identified separately to have mutations in <italic>PIK3CA</italic>
by clinical targeted-panel testing (<italic>n</italic>
= 6), whole-exome sequencing (<italic>n</italic>
= 5), or Sanger sequencing (<italic>n</italic>
= 1). Based on the clinical and molecular features, this cohort segregated into three distinct groups: (a) severe focal overgrowth due to low-level but highly activating (hotspot) mutations, (b) predominantly brain overgrowth and less severe somatic overgrowth due to less-activating mutations, and (c) intermediate phenotypes (capillary malformations with overgrowth) with intermediately activating mutations. Sixteen of 29 <italic>PIK3CA</italic>
mutations were novel. We also identified constitutional <italic>PIK3CA</italic>
mutations in 10 patients. Our molecular data, combined with review of the literature, show that <italic>PIK3CA</italic>
-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.</p>
</div>
</front>
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</analytic>
</biblStruct>
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</analytic>
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<biblStruct><analytic><author><name sortKey="Stephan, Mj" uniqKey="Stephan M">MJ Stephan</name>
</author>
<author><name sortKey="Hall, Bd" uniqKey="Hall B">BD Hall</name>
</author>
<author><name sortKey="Smith, Dw" uniqKey="Smith D">DW Smith</name>
</author>
<author><name sortKey="Cohen, Mm" uniqKey="Cohen M">MM Cohen</name>
</author>
</analytic>
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</author>
</analytic>
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</author>
<author><name sortKey="Byers, H" uniqKey="Byers H">H Byers</name>
</author>
<author><name sortKey="Clayton Smith, J" uniqKey="Clayton Smith J">J Clayton-Smith</name>
</author>
</analytic>
</biblStruct>
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<author><name sortKey="Schwartz, Ce" uniqKey="Schwartz C">CE Schwartz</name>
</author>
<author><name sortKey="Stevenson, R" uniqKey="Stevenson R">R Stevenson</name>
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</analytic>
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<li>Argentine</li>
<li>Australie</li>
<li>Belgique</li>
<li>Canada</li>
<li>Chili</li>
<li>Inde</li>
<li>Israël</li>
<li>Italie</li>
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<li>Maryland</li>
<li>Michigan</li>
<li>Minnesota</li>
<li>Missouri (État)</li>
<li>Ohio</li>
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<li>Oxfordshire</li>
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