Quantifying penetrance in a dominant disease gene using large population control cohorts
Identifieur interne : 000179 ( Main/Exploration ); précédent : 000178; suivant : 000180Quantifying penetrance in a dominant disease gene using large population control cohorts
Auteurs : Eric Vallabh Minikel [États-Unis] ; Sonia M. Vallabh [États-Unis] ; Monkol Lek [États-Unis] ; Karol Estrada [États-Unis] ; Kaitlin E. Samocha [États-Unis] ; J. Fah Sathirapongsasuti [États-Unis] ; Cory Y. Mclean [États-Unis] ; Joyce Y. Tung [États-Unis] ; Linda P. C. Yu [États-Unis] ; Pierluigi Gambetti [États-Unis] ; Janis Blevins [États-Unis] ; Shulin Zhang [États-Unis] ; Yvonne Cohen [États-Unis] ; Wei Chen [États-Unis] ; Masahito Yamada [Japon] ; Tsuyoshi Hamaguchi [Japon] ; Nobuo Sanjo [Japon] ; Hidehiro Mizusawa [Japon] ; Yosikazu Nakamura [Japon] ; Tetsuyuki Kitamoto [Japon] ; Steven J. Collins [Australie] ; Alison Boyd [Australie] ; Robert G. Will [Royaume-Uni] ; Richard Knight [Royaume-Uni] ; Claudia Ponto [Allemagne] ; Inga Zerr [Allemagne] ; Theo F. J. Kraus [Allemagne] ; Sabina Eigenbrod [Allemagne] ; Armin Giese [Allemagne] ; Miguel Calero [Espagne] ; Jesús De Pedro-Cuesta [Espagne] ; Stéphane Haïk [France] ; Jean-Louis Laplanche [France] ; Elodie Bouaziz-Amar [France] ; Jean-Philippe Brandel [France] ; Sabina Capellari [Italie] ; Piero Parchi [Italie] ; Anna Poleggi [Italie] ; Anna Ladogana [Italie] ; Anne H. O'Donnell-Luria [États-Unis] ; Konrad J. Karczewski [États-Unis] ; Jamie L. Marshall [États-Unis] ; Michael Boehnke [États-Unis] ; Markku Laakso [Finlande] ; Karen L. Mohlke [États-Unis] ; Anna K Hler [Suède] ; Kimberly Chambert [États-Unis] ; Steven Mccarroll [États-Unis] ; Patrick F. Sullivan [États-Unis, Suède] ; Christina M. Hultman [Suède] ; Shaun M. Purcell [États-Unis] ; Pamela Sklar [États-Unis] ; Sven J. Van Der Lee [Pays-Bas] ; Annemieke Rozemuller [Pays-Bas] ; Casper Jansen [Pays-Bas] ; Albert Hofman [Pays-Bas] ; Robert Kraaij [Pays-Bas] ; Jeroen G. J. Van Rooij [Pays-Bas] ; M. Arfan Ikram [Pays-Bas] ; André G. Uitterlinden [Pays-Bas] ; Cornelia M. Van Duijn [Pays-Bas] ; Mark J. Daly [États-Unis] ; Daniel G. Macarthur [États-Unis]Source :
- Science translational medicine [ 1946-6234 ] ; 2016.
Abstract
More than 100,000 genetic variants are reported to cause Mendelian
disease in humans, but the penetrance - the probability that a carrier of the
purported disease-causing genotype will indeed develop the disease - is
generally unknown. Here we assess the impact of variants in the prion protein
gene (
Url:
DOI: 10.1126/scitranslmed.aad5169
PubMed: 26791950
PubMed Central: 4774245
Affiliations:
- Allemagne, Australie, Espagne, Finlande, France, Italie, Japon, Pays-Bas, Royaume-Uni, Suède, États-Unis
- Bavière, Californie, Caroline du Nord, Communauté de Madrid, District de Haute-Bavière, Latium, Massachusetts, Michigan, Ohio, Svealand, Écosse, État de New York, Île-de-France
- Madrid, Munich, Paris, Rome, Stockholm, Tokyo, Édimbourg
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 000609
- to stream Pmc, to step Curation: 000606
- to stream Pmc, to step Checkpoint: 000033
- to stream Ncbi, to step Merge: 001923
- to stream Ncbi, to step Curation: 001923
- to stream Ncbi, to step Checkpoint: 001923
- to stream Main, to step Merge: 000180
- to stream Main, to step Curation: 000179
Le document en format XML
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<author><name sortKey="Yu, Linda P C" sort="Yu, Linda P C" uniqKey="Yu L" first="Linda P. C." last="Yu">Linda P. C. Yu</name>
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<author><name sortKey="Gambetti, Pierluigi" sort="Gambetti, Pierluigi" uniqKey="Gambetti P" first="Pierluigi" last="Gambetti">Pierluigi Gambetti</name>
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<author><name sortKey="Yamada, Masahito" sort="Yamada, Masahito" uniqKey="Yamada M" first="Masahito" last="Yamada">Masahito Yamada</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa</wicri:regionArea>
<wicri:noRegion>Kanazawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hamaguchi, Tsuyoshi" sort="Hamaguchi, Tsuyoshi" uniqKey="Hamaguchi T" first="Tsuyoshi" last="Hamaguchi">Tsuyoshi Hamaguchi</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Sanjo, Nobuo" sort="Sanjo, Nobuo" uniqKey="Sanjo N" first="Nobuo" last="Sanjo">Nobuo Sanjo</name>
<affiliation wicri:level="3"><nlm:aff id="A9">Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizusawa, Hidehiro" sort="Mizusawa, Hidehiro" uniqKey="Mizusawa H" first="Hidehiro" last="Mizusawa">Hidehiro Mizusawa</name>
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<country xml:lang="fr">Japon</country>
<wicri:regionArea>National Center Hospital, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
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<author><name sortKey="Nakamura, Yosikazu" sort="Nakamura, Yosikazu" uniqKey="Nakamura Y" first="Yosikazu" last="Nakamura">Yosikazu Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="A11">Department of Public Health, Jichi Medical University, Shimotsuke, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Public Health, Jichi Medical University, Shimotsuke</wicri:regionArea>
<wicri:noRegion>Shimotsuke</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kitamoto, Tetsuyuki" sort="Kitamoto, Tetsuyuki" uniqKey="Kitamoto T" first="Tetsuyuki" last="Kitamoto">Tetsuyuki Kitamoto</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Collins, Steven J" sort="Collins, Steven J" uniqKey="Collins S" first="Steven J." last="Collins">Steven J. Collins</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Boyd, Alison" sort="Boyd, Alison" uniqKey="Boyd A" first="Alison" last="Boyd">Alison Boyd</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Will, Robert G" sort="Will, Robert G" uniqKey="Will R" first="Robert G." last="Will">Robert G. Will</name>
<affiliation wicri:level="3"><nlm:aff id="A14">National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
<affiliation wicri:level="3"><nlm:aff id="A14">National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ponto, Claudia" sort="Ponto, Claudia" uniqKey="Ponto C" first="Claudia" last="Ponto">Claudia Ponto</name>
<affiliation wicri:level="1"><nlm:aff id="A15">National Reference Center for TSE, Georg-August University, Goettingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>National Reference Center for TSE, Georg-August University, Goettingen</wicri:regionArea>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
<affiliation wicri:level="1"><nlm:aff id="A15">National Reference Center for TSE, Georg-August University, Goettingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>National Reference Center for TSE, Georg-August University, Goettingen</wicri:regionArea>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kraus, Theo F J" sort="Kraus, Theo F J" uniqKey="Kraus T" first="Theo F. J." last="Kraus">Theo F. J. Kraus</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
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<author><name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giese, Armin" sort="Giese, Armin" uniqKey="Giese A" first="Armin" last="Giese">Armin Giese</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calero, Miguel" sort="Calero, Miguel" uniqKey="Calero M" first="Miguel" last="Calero">Miguel Calero</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Instituto de Salud Carlos III and CIBERNED, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Instituto de Salud Carlos III and CIBERNED, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Pedro Cuesta, Jesus" sort="De Pedro Cuesta, Jesus" uniqKey="De Pedro Cuesta J" first="Jesús" last="De Pedro-Cuesta">Jesús De Pedro-Cuesta</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Instituto de Salud Carlos III and CIBERNED, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Instituto de Salud Carlos III and CIBERNED, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haik, Stephane" sort="Haik, Stephane" uniqKey="Haik S" first="Stéphane" last="Haïk">Stéphane Haïk</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
<affiliation wicri:level="3"><nlm:aff id="A20">AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bouaziz Amar, Elodie" sort="Bouaziz Amar, Elodie" uniqKey="Bouaziz Amar E" first="Elodie" last="Bouaziz-Amar">Elodie Bouaziz-Amar</name>
<affiliation wicri:level="3"><nlm:aff id="A20">AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean-Philippe" last="Brandel">Jean-Philippe Brandel</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
<affiliation wicri:level="1"><nlm:aff id="A21">IRCCS Institute of Neurological Sciences, Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Institute of Neurological Sciences, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A22">Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna</wicri:regionArea>
<wicri:noRegion>University of Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
<affiliation wicri:level="1"><nlm:aff id="A21">IRCCS Institute of Neurological Sciences, Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Institute of Neurological Sciences, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A22">Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna</wicri:regionArea>
<wicri:noRegion>University of Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Poleggi, Anna" sort="Poleggi, Anna" uniqKey="Poleggi A" first="Anna" last="Poleggi">Anna Poleggi</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ladogana, Anna" sort="Ladogana, Anna" uniqKey="Ladogana A" first="Anna" last="Ladogana">Anna Ladogana</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="O Donnell Luria, Anne H" sort="O Donnell Luria, Anne H" uniqKey="O Donnell Luria A" first="Anne H." last="O'Donnell-Luria">Anne H. O'Donnell-Luria</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A24">Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Karczewski, Konrad J" sort="Karczewski, Konrad J" uniqKey="Karczewski K" first="Konrad J." last="Karczewski">Konrad J. Karczewski</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marshall, Jamie L" sort="Marshall, Jamie L" uniqKey="Marshall J" first="Jamie L." last="Marshall">Jamie L. Marshall</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boehnke, Michael" sort="Boehnke, Michael" uniqKey="Boehnke M" first="Michael" last="Boehnke">Michael Boehnke</name>
<affiliation wicri:level="2"><nlm:aff id="A25">University of Michigan School of Public Health, Ann Arbor, MI 48109, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Michigan School of Public Health, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laakso, Markku" sort="Laakso, Markku" uniqKey="Laakso M" first="Markku" last="Laakso">Markku Laakso</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio</wicri:regionArea>
<wicri:noRegion>Kuopio</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mohlke, Karen L" sort="Mohlke, Karen L" uniqKey="Mohlke K" first="Karen L." last="Mohlke">Karen L. Mohlke</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="K Hler, Anna" sort="K Hler, Anna" uniqKey="K Hler A" first="Anna" last="K Hler">Anna K Hler</name>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chambert, Kimberly" sort="Chambert, Kimberly" uniqKey="Chambert K" first="Kimberly" last="Chambert">Kimberly Chambert</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mccarroll, Steven" sort="Mccarroll, Steven" uniqKey="Mccarroll S" first="Steven" last="Mccarroll">Steven Mccarroll</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sullivan, Patrick F" sort="Sullivan, Patrick F" uniqKey="Sullivan P" first="Patrick F." last="Sullivan">Patrick F. Sullivan</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hultman, Christina M" sort="Hultman, Christina M" uniqKey="Hultman C" first="Christina M." last="Hultman">Christina M. Hultman</name>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Purcell, Shaun M" sort="Purcell, Shaun M" uniqKey="Purcell S" first="Shaun M." last="Purcell">Shaun M. Purcell</name>
<affiliation wicri:level="2"><nlm:aff id="A30">Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sklar, Pamela" sort="Sklar, Pamela" uniqKey="Sklar P" first="Pamela" last="Sklar">Pamela Sklar</name>
<affiliation wicri:level="2"><nlm:aff id="A30">Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Der Lee, Sven J" sort="Van Der Lee, Sven J" uniqKey="Van Der Lee S" first="Sven J." last="Van Der Lee">Sven J. Van Der Lee</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rozemuller, Annemieke" sort="Rozemuller, Annemieke" uniqKey="Rozemuller A" first="Annemieke" last="Rozemuller">Annemieke Rozemuller</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX</wicri:regionArea>
<wicri:noRegion>Utrecht 3584 CX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jansen, Casper" sort="Jansen, Casper" uniqKey="Jansen C" first="Casper" last="Jansen">Casper Jansen</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX</wicri:regionArea>
<wicri:noRegion>Utrecht 3584 CX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hofman, Albert" sort="Hofman, Albert" uniqKey="Hofman A" first="Albert" last="Hofman">Albert Hofman</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Rooij, Jeroen G J" sort="Van Rooij, Jeroen G J" uniqKey="Van Rooij J" first="Jeroen G. J." last="Van Rooij">Jeroen G. J. Van Rooij</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ikram, M Arfan" sort="Ikram, M Arfan" uniqKey="Ikram M" first="M. Arfan" last="Ikram">M. Arfan Ikram</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
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<idno type="doi">10.1126/scitranslmed.aad5169</idno>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Quantifying penetrance in a dominant disease gene using large
population control cohorts</title>
<author><name sortKey="Minikel, Eric Vallabh" sort="Minikel, Eric Vallabh" uniqKey="Minikel E" first="Eric Vallabh" last="Minikel">Eric Vallabh Minikel</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A4">Prion Alliance, Cambridge, MA 02139, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Prion Alliance, Cambridge, MA 02139</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vallabh, Sonia M" sort="Vallabh, Sonia M" uniqKey="Vallabh S" first="Sonia M." last="Vallabh">Sonia M. Vallabh</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A4">Prion Alliance, Cambridge, MA 02139, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Prion Alliance, Cambridge, MA 02139</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Estrada, Karol" sort="Estrada, Karol" uniqKey="Estrada K" first="Karol" last="Estrada">Karol Estrada</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E." last="Samocha">Kaitlin E. Samocha</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3">Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Biological and Biomedical Sciences, Harvard Medical School, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sathirapongsasuti, J Fah" sort="Sathirapongsasuti, J Fah" uniqKey="Sathirapongsasuti J" first="J. Fah" last="Sathirapongsasuti">J. Fah Sathirapongsasuti</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Research, 23andMe Inc., Mountain View, CA 94041, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Research, 23andMe Inc., Mountain View, CA 94041</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mclean, Cory Y" sort="Mclean, Cory Y" uniqKey="Mclean C" first="Cory Y." last="Mclean">Cory Y. Mclean</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Research, 23andMe Inc., Mountain View, CA 94041, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Research, 23andMe Inc., Mountain View, CA 94041</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Tung, Joyce Y" sort="Tung, Joyce Y" uniqKey="Tung J" first="Joyce Y." last="Tung">Joyce Y. Tung</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Research, 23andMe Inc., Mountain View, CA 94041, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Research, 23andMe Inc., Mountain View, CA 94041</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yu, Linda P C" sort="Yu, Linda P C" uniqKey="Yu L" first="Linda P. C." last="Yu">Linda P. C. Yu</name>
<affiliation wicri:level="2"><nlm:aff id="A5">Research, 23andMe Inc., Mountain View, CA 94041, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Research, 23andMe Inc., Mountain View, CA 94041</wicri:regionArea>
<placeName><region type="state">Californie</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gambetti, Pierluigi" sort="Gambetti, Pierluigi" uniqKey="Gambetti P" first="Pierluigi" last="Gambetti">Pierluigi Gambetti</name>
<affiliation wicri:level="2"><nlm:aff id="A6">National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Blevins, Janis" sort="Blevins, Janis" uniqKey="Blevins J" first="Janis" last="Blevins">Janis Blevins</name>
<affiliation wicri:level="2"><nlm:aff id="A6">National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Zhang, Shulin" sort="Zhang, Shulin" uniqKey="Zhang S" first="Shulin" last="Zhang">Shulin Zhang</name>
<affiliation wicri:level="2"><nlm:aff id="A7">University Hospitals Case Medical Center, Cleveland, OH 44106, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University Hospitals Case Medical Center, Cleveland, OH 44106</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Cohen, Yvonne" sort="Cohen, Yvonne" uniqKey="Cohen Y" first="Yvonne" last="Cohen">Yvonne Cohen</name>
<affiliation wicri:level="2"><nlm:aff id="A6">National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name>
<affiliation wicri:level="2"><nlm:aff id="A6">National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>National Prion Disease Pathology Surveillance Center, Cleveland, OH 44106</wicri:regionArea>
<placeName><region type="state">Ohio</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Yamada, Masahito" sort="Yamada, Masahito" uniqKey="Yamada M" first="Masahito" last="Yamada">Masahito Yamada</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa</wicri:regionArea>
<wicri:noRegion>Kanazawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hamaguchi, Tsuyoshi" sort="Hamaguchi, Tsuyoshi" uniqKey="Hamaguchi T" first="Tsuyoshi" last="Hamaguchi">Tsuyoshi Hamaguchi</name>
<affiliation wicri:level="1"><nlm:aff id="A8">Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Sciences, Kanazawa</wicri:regionArea>
<wicri:noRegion>Kanazawa</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Sanjo, Nobuo" sort="Sanjo, Nobuo" uniqKey="Sanjo N" first="Nobuo" last="Sanjo">Nobuo Sanjo</name>
<affiliation wicri:level="3"><nlm:aff id="A9">Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mizusawa, Hidehiro" sort="Mizusawa, Hidehiro" uniqKey="Mizusawa H" first="Hidehiro" last="Mizusawa">Hidehiro Mizusawa</name>
<affiliation wicri:level="3"><nlm:aff id="A10">National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>National Center Hospital, National Center of Neurology and Psychiatry, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Nakamura, Yosikazu" sort="Nakamura, Yosikazu" uniqKey="Nakamura Y" first="Yosikazu" last="Nakamura">Yosikazu Nakamura</name>
<affiliation wicri:level="1"><nlm:aff id="A11">Department of Public Health, Jichi Medical University, Shimotsuke, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Public Health, Jichi Medical University, Shimotsuke</wicri:regionArea>
<wicri:noRegion>Shimotsuke</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kitamoto, Tetsuyuki" sort="Kitamoto, Tetsuyuki" uniqKey="Kitamoto T" first="Tetsuyuki" last="Kitamoto">Tetsuyuki Kitamoto</name>
<affiliation wicri:level="1"><nlm:aff id="A12">Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Neurological Science, Tohoku University Graduate School of Medicine, Sendai</wicri:regionArea>
<wicri:noRegion>Sendai</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Collins, Steven J" sort="Collins, Steven J" uniqKey="Collins S" first="Steven J." last="Collins">Steven J. Collins</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville</wicri:regionArea>
<wicri:noRegion>Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boyd, Alison" sort="Boyd, Alison" uniqKey="Boyd A" first="Alison" last="Boyd">Alison Boyd</name>
<affiliation wicri:level="1"><nlm:aff id="A13">Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Australian National Creutzfeldt-Jakob Disease Registry, The University of Melbourne, Parkville</wicri:regionArea>
<wicri:noRegion>Parkville</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Will, Robert G" sort="Will, Robert G" uniqKey="Will R" first="Robert G." last="Will">Robert G. Will</name>
<affiliation wicri:level="3"><nlm:aff id="A14">National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
<affiliation wicri:level="3"><nlm:aff id="A14">National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh, United Kingdom</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>National Creutzfeldt-Jakob Disease Research and Surveillance Unit, Western General Hospital, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ponto, Claudia" sort="Ponto, Claudia" uniqKey="Ponto C" first="Claudia" last="Ponto">Claudia Ponto</name>
<affiliation wicri:level="1"><nlm:aff id="A15">National Reference Center for TSE, Georg-August University, Goettingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>National Reference Center for TSE, Georg-August University, Goettingen</wicri:regionArea>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
<affiliation wicri:level="1"><nlm:aff id="A15">National Reference Center for TSE, Georg-August University, Goettingen, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>National Reference Center for TSE, Georg-August University, Goettingen</wicri:regionArea>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
<wicri:noRegion>Goettingen</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kraus, Theo F J" sort="Kraus, Theo F J" uniqKey="Kraus T" first="Theo F. J." last="Kraus">Theo F. J. Kraus</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Giese, Armin" sort="Giese, Armin" uniqKey="Giese A" first="Armin" last="Giese">Armin Giese</name>
<affiliation wicri:level="3"><nlm:aff id="A16">Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Center for Neuropathology and Prion Research (ZNP) at the Ludwig-Maximilians-University, Munich</wicri:regionArea>
<placeName><region type="land" nuts="1">Bavière</region>
<region type="district" nuts="2">District de Haute-Bavière</region>
<settlement type="city">Munich</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Calero, Miguel" sort="Calero, Miguel" uniqKey="Calero M" first="Miguel" last="Calero">Miguel Calero</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Instituto de Salud Carlos III and CIBERNED, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Instituto de Salud Carlos III and CIBERNED, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="De Pedro Cuesta, Jesus" sort="De Pedro Cuesta, Jesus" uniqKey="De Pedro Cuesta J" first="Jesús" last="De Pedro-Cuesta">Jesús De Pedro-Cuesta</name>
<affiliation wicri:level="3"><nlm:aff id="A17">Instituto de Salud Carlos III and CIBERNED, Madrid, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Instituto de Salud Carlos III and CIBERNED, Madrid</wicri:regionArea>
<placeName><settlement type="city">Madrid</settlement>
<region nuts="2" type="region">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haik, Stephane" sort="Haik, Stephane" uniqKey="Haik S" first="Stéphane" last="Haïk">Stéphane Haïk</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
<affiliation wicri:level="3"><nlm:aff id="A20">AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Bouaziz Amar, Elodie" sort="Bouaziz Amar, Elodie" uniqKey="Bouaziz Amar E" first="Elodie" last="Bouaziz-Amar">Elodie Bouaziz-Amar</name>
<affiliation wicri:level="3"><nlm:aff id="A20">AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Service de Biochimie et Biologie moléculaire, Hôpital Lariboisière, Paris</wicri:regionArea>
<placeName><region type="region">Île-de-France</region>
<region type="old region">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean-Philippe" last="Brandel">Jean-Philippe Brandel</name>
<affiliation wicri:level="3"><nlm:aff id="A18">Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ. Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, 75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A19">AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>AP-HP, Cellule Nationale de Référence des Maladies de Creutzfeldt-Jakob, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris</wicri:regionArea>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
<affiliation wicri:level="1"><nlm:aff id="A21">IRCCS Institute of Neurological Sciences, Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Institute of Neurological Sciences, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A22">Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna</wicri:regionArea>
<wicri:noRegion>University of Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
<affiliation wicri:level="1"><nlm:aff id="A21">IRCCS Institute of Neurological Sciences, Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>IRCCS Institute of Neurological Sciences, Bologna</wicri:regionArea>
<wicri:noRegion>Bologna</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A22">Department of Biomedical and Neuromotor Sciences, University of Bologna, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical and Neuromotor Sciences, University of Bologna</wicri:regionArea>
<wicri:noRegion>University of Bologna</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Poleggi, Anna" sort="Poleggi, Anna" uniqKey="Poleggi A" first="Anna" last="Poleggi">Anna Poleggi</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Ladogana, Anna" sort="Ladogana, Anna" uniqKey="Ladogana A" first="Anna" last="Ladogana">Anna Ladogana</name>
<affiliation wicri:level="3"><nlm:aff id="A23">Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome</wicri:regionArea>
<placeName><settlement type="city">Rome</settlement>
<region nuts="2">Latium</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="O Donnell Luria, Anne H" sort="O Donnell Luria, Anne H" uniqKey="O Donnell Luria A" first="Anne H." last="O'Donnell-Luria">Anne H. O'Donnell-Luria</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A24">Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Karczewski, Konrad J" sort="Karczewski, Konrad J" uniqKey="Karczewski K" first="Konrad J." last="Karczewski">Konrad J. Karczewski</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Marshall, Jamie L" sort="Marshall, Jamie L" uniqKey="Marshall J" first="Jamie L." last="Marshall">Jamie L. Marshall</name>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Boehnke, Michael" sort="Boehnke, Michael" uniqKey="Boehnke M" first="Michael" last="Boehnke">Michael Boehnke</name>
<affiliation wicri:level="2"><nlm:aff id="A25">University of Michigan School of Public Health, Ann Arbor, MI 48109, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>University of Michigan School of Public Health, Ann Arbor, MI 48109</wicri:regionArea>
<placeName><region type="state">Michigan</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Laakso, Markku" sort="Laakso, Markku" uniqKey="Laakso M" first="Markku" last="Laakso">Markku Laakso</name>
<affiliation wicri:level="1"><nlm:aff id="A26">Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland</nlm:aff>
<country xml:lang="fr">Finlande</country>
<wicri:regionArea>Department of Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio</wicri:regionArea>
<wicri:noRegion>Kuopio</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mohlke, Karen L" sort="Mohlke, Karen L" uniqKey="Mohlke K" first="Karen L." last="Mohlke">Karen L. Mohlke</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="K Hler, Anna" sort="K Hler, Anna" uniqKey="K Hler A" first="Anna" last="K Hler">Anna K Hler</name>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Chambert, Kimberly" sort="Chambert, Kimberly" uniqKey="Chambert K" first="Kimberly" last="Chambert">Kimberly Chambert</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mccarroll, Steven" sort="Mccarroll, Steven" uniqKey="Mccarroll S" first="Steven" last="Mccarroll">Steven Mccarroll</name>
<affiliation wicri:level="2"><nlm:aff id="A29">Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sullivan, Patrick F" sort="Sullivan, Patrick F" uniqKey="Sullivan P" first="Patrick F." last="Sullivan">Patrick F. Sullivan</name>
<affiliation wicri:level="2"><nlm:aff id="A27">Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Genetics, University of North Carolina School of Medicine, Chapel Hill, NC 27599</wicri:regionArea>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
</affiliation>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Hultman, Christina M" sort="Hultman, Christina M" uniqKey="Hultman C" first="Christina M." last="Hultman">Christina M. Hultman</name>
<affiliation wicri:level="3"><nlm:aff id="A28">Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
<region nuts="2">Svealand</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Purcell, Shaun M" sort="Purcell, Shaun M" uniqKey="Purcell S" first="Shaun M." last="Purcell">Shaun M. Purcell</name>
<affiliation wicri:level="2"><nlm:aff id="A30">Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Sklar, Pamela" sort="Sklar, Pamela" uniqKey="Sklar P" first="Pamela" last="Sklar">Pamela Sklar</name>
<affiliation wicri:level="2"><nlm:aff id="A30">Icahn School of Medicine at Mount Sinai, New York, NY 10029, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Icahn School of Medicine at Mount Sinai, New York, NY 10029</wicri:regionArea>
<placeName><region type="state">État de New York</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Der Lee, Sven J" sort="Van Der Lee, Sven J" uniqKey="Van Der Lee S" first="Sven J." last="Van Der Lee">Sven J. Van Der Lee</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Rozemuller, Annemieke" sort="Rozemuller, Annemieke" uniqKey="Rozemuller A" first="Annemieke" last="Rozemuller">Annemieke Rozemuller</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX</wicri:regionArea>
<wicri:noRegion>Utrecht 3584 CX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Jansen, Casper" sort="Jansen, Casper" uniqKey="Jansen C" first="Casper" last="Jansen">Casper Jansen</name>
<affiliation wicri:level="1"><nlm:aff id="A32">Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX, Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Prion Surveillance Center, Department of Pathology, University Medical Center, Utrecht 3584 CX</wicri:regionArea>
<wicri:noRegion>Utrecht 3584 CX</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hofman, Albert" sort="Hofman, Albert" uniqKey="Hofman A" first="Albert" last="Hofman">Albert Hofman</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Rooij, Jeroen G J" sort="Van Rooij, Jeroen G J" uniqKey="Van Rooij J" first="Jeroen G. J." last="Van Rooij">Jeroen G. J. Van Rooij</name>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Ikram, M Arfan" sort="Ikram, M Arfan" uniqKey="Ikram M" first="M. Arfan" last="Ikram">M. Arfan Ikram</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><nlm:aff id="A33">Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Internal Medicine, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<affiliation wicri:level="1"><nlm:aff id="A31">Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Epidemiology, Erasmus MC, Rotterdam 3000 CA</wicri:regionArea>
<wicri:noRegion>Rotterdam 3000 CA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<affiliation wicri:level="2"><nlm:aff id="A2">Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A1">Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, United States</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
</analytic>
<series><title level="j">Science translational medicine</title>
<idno type="ISSN">1946-6234</idno>
<idno type="eISSN">1946-6242</idno>
<imprint><date when="2016">2016</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P2">More than 100,000 genetic variants are reported to cause Mendelian
disease in humans, but the penetrance - the probability that a carrier of the
purported disease-causing genotype will indeed develop the disease - is
generally unknown. Here we assess the impact of variants in the prion protein
gene (<italic>PRNP</italic>
) on the risk of prion disease by analyzing 16,025
prion disease cases, 60,706 population control exomes, and 531,575 individuals
genotyped by 23andMe, Inc. We show that missense variants in
<italic>PRNP</italic>
previously reported to be pathogenic are at least
30× more common in the population than expected based on genetic prion
disease prevalence. While some of this excess can be attributed to benign
variants falsely assigned as pathogenic, other variants have genuine effects on
disease susceptibility but confer lifetime risks ranging from
<0.1% to ~100%. We also show that truncating
variants in <italic>PRNP</italic>
have position-dependent effects, with true
loss-of-function alleles found in healthy older individuals, supporting the
safety of therapeutic suppression of prion protein expression.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Espagne</li>
<li>Finlande</li>
<li>France</li>
<li>Italie</li>
<li>Japon</li>
<li>Pays-Bas</li>
<li>Royaume-Uni</li>
<li>Suède</li>
<li>États-Unis</li>
</country>
<region><li>Bavière</li>
<li>Californie</li>
<li>Caroline du Nord</li>
<li>Communauté de Madrid</li>
<li>District de Haute-Bavière</li>
<li>Latium</li>
<li>Massachusetts</li>
<li>Michigan</li>
<li>Ohio</li>
<li>Svealand</li>
<li>Écosse</li>
<li>État de New York</li>
<li>Île-de-France</li>
</region>
<settlement><li>Madrid</li>
<li>Munich</li>
<li>Paris</li>
<li>Rome</li>
<li>Stockholm</li>
<li>Tokyo</li>
<li>Édimbourg</li>
</settlement>
</list>
<tree><country name="États-Unis"><region name="Massachusetts"><name sortKey="Minikel, Eric Vallabh" sort="Minikel, Eric Vallabh" uniqKey="Minikel E" first="Eric Vallabh" last="Minikel">Eric Vallabh Minikel</name>
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<name sortKey="Blevins, Janis" sort="Blevins, Janis" uniqKey="Blevins J" first="Janis" last="Blevins">Janis Blevins</name>
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<name sortKey="Chambert, Kimberly" sort="Chambert, Kimberly" uniqKey="Chambert K" first="Kimberly" last="Chambert">Kimberly Chambert</name>
<name sortKey="Chen, Wei" sort="Chen, Wei" uniqKey="Chen W" first="Wei" last="Chen">Wei Chen</name>
<name sortKey="Cohen, Yvonne" sort="Cohen, Yvonne" uniqKey="Cohen Y" first="Yvonne" last="Cohen">Yvonne Cohen</name>
<name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<name sortKey="Daly, Mark J" sort="Daly, Mark J" uniqKey="Daly M" first="Mark J." last="Daly">Mark J. Daly</name>
<name sortKey="Estrada, Karol" sort="Estrada, Karol" uniqKey="Estrada K" first="Karol" last="Estrada">Karol Estrada</name>
<name sortKey="Estrada, Karol" sort="Estrada, Karol" uniqKey="Estrada K" first="Karol" last="Estrada">Karol Estrada</name>
<name sortKey="Gambetti, Pierluigi" sort="Gambetti, Pierluigi" uniqKey="Gambetti P" first="Pierluigi" last="Gambetti">Pierluigi Gambetti</name>
<name sortKey="Karczewski, Konrad J" sort="Karczewski, Konrad J" uniqKey="Karczewski K" first="Konrad J." last="Karczewski">Konrad J. Karczewski</name>
<name sortKey="Karczewski, Konrad J" sort="Karczewski, Konrad J" uniqKey="Karczewski K" first="Konrad J." last="Karczewski">Konrad J. Karczewski</name>
<name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<name sortKey="Lek, Monkol" sort="Lek, Monkol" uniqKey="Lek M" first="Monkol" last="Lek">Monkol Lek</name>
<name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<name sortKey="Macarthur, Daniel G" sort="Macarthur, Daniel G" uniqKey="Macarthur D" first="Daniel G." last="Macarthur">Daniel G. Macarthur</name>
<name sortKey="Marshall, Jamie L" sort="Marshall, Jamie L" uniqKey="Marshall J" first="Jamie L." last="Marshall">Jamie L. Marshall</name>
<name sortKey="Marshall, Jamie L" sort="Marshall, Jamie L" uniqKey="Marshall J" first="Jamie L." last="Marshall">Jamie L. Marshall</name>
<name sortKey="Mccarroll, Steven" sort="Mccarroll, Steven" uniqKey="Mccarroll S" first="Steven" last="Mccarroll">Steven Mccarroll</name>
<name sortKey="Mclean, Cory Y" sort="Mclean, Cory Y" uniqKey="Mclean C" first="Cory Y." last="Mclean">Cory Y. Mclean</name>
<name sortKey="Minikel, Eric Vallabh" sort="Minikel, Eric Vallabh" uniqKey="Minikel E" first="Eric Vallabh" last="Minikel">Eric Vallabh Minikel</name>
<name sortKey="Minikel, Eric Vallabh" sort="Minikel, Eric Vallabh" uniqKey="Minikel E" first="Eric Vallabh" last="Minikel">Eric Vallabh Minikel</name>
<name sortKey="Minikel, Eric Vallabh" sort="Minikel, Eric Vallabh" uniqKey="Minikel E" first="Eric Vallabh" last="Minikel">Eric Vallabh Minikel</name>
<name sortKey="Mohlke, Karen L" sort="Mohlke, Karen L" uniqKey="Mohlke K" first="Karen L." last="Mohlke">Karen L. Mohlke</name>
<name sortKey="O Donnell Luria, Anne H" sort="O Donnell Luria, Anne H" uniqKey="O Donnell Luria A" first="Anne H." last="O'Donnell-Luria">Anne H. O'Donnell-Luria</name>
<name sortKey="O Donnell Luria, Anne H" sort="O Donnell Luria, Anne H" uniqKey="O Donnell Luria A" first="Anne H." last="O'Donnell-Luria">Anne H. O'Donnell-Luria</name>
<name sortKey="O Donnell Luria, Anne H" sort="O Donnell Luria, Anne H" uniqKey="O Donnell Luria A" first="Anne H." last="O'Donnell-Luria">Anne H. O'Donnell-Luria</name>
<name sortKey="Purcell, Shaun M" sort="Purcell, Shaun M" uniqKey="Purcell S" first="Shaun M." last="Purcell">Shaun M. Purcell</name>
<name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E." last="Samocha">Kaitlin E. Samocha</name>
<name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E." last="Samocha">Kaitlin E. Samocha</name>
<name sortKey="Samocha, Kaitlin E" sort="Samocha, Kaitlin E" uniqKey="Samocha K" first="Kaitlin E." last="Samocha">Kaitlin E. Samocha</name>
<name sortKey="Sathirapongsasuti, J Fah" sort="Sathirapongsasuti, J Fah" uniqKey="Sathirapongsasuti J" first="J. Fah" last="Sathirapongsasuti">J. Fah Sathirapongsasuti</name>
<name sortKey="Sklar, Pamela" sort="Sklar, Pamela" uniqKey="Sklar P" first="Pamela" last="Sklar">Pamela Sklar</name>
<name sortKey="Sullivan, Patrick F" sort="Sullivan, Patrick F" uniqKey="Sullivan P" first="Patrick F." last="Sullivan">Patrick F. Sullivan</name>
<name sortKey="Tung, Joyce Y" sort="Tung, Joyce Y" uniqKey="Tung J" first="Joyce Y." last="Tung">Joyce Y. Tung</name>
<name sortKey="Vallabh, Sonia M" sort="Vallabh, Sonia M" uniqKey="Vallabh S" first="Sonia M." last="Vallabh">Sonia M. Vallabh</name>
<name sortKey="Vallabh, Sonia M" sort="Vallabh, Sonia M" uniqKey="Vallabh S" first="Sonia M." last="Vallabh">Sonia M. Vallabh</name>
<name sortKey="Vallabh, Sonia M" sort="Vallabh, Sonia M" uniqKey="Vallabh S" first="Sonia M." last="Vallabh">Sonia M. Vallabh</name>
<name sortKey="Yu, Linda P C" sort="Yu, Linda P C" uniqKey="Yu L" first="Linda P. C." last="Yu">Linda P. C. Yu</name>
<name sortKey="Zhang, Shulin" sort="Zhang, Shulin" uniqKey="Zhang S" first="Shulin" last="Zhang">Shulin Zhang</name>
</country>
<country name="Japon"><noRegion><name sortKey="Yamada, Masahito" sort="Yamada, Masahito" uniqKey="Yamada M" first="Masahito" last="Yamada">Masahito Yamada</name>
</noRegion>
<name sortKey="Hamaguchi, Tsuyoshi" sort="Hamaguchi, Tsuyoshi" uniqKey="Hamaguchi T" first="Tsuyoshi" last="Hamaguchi">Tsuyoshi Hamaguchi</name>
<name sortKey="Kitamoto, Tetsuyuki" sort="Kitamoto, Tetsuyuki" uniqKey="Kitamoto T" first="Tetsuyuki" last="Kitamoto">Tetsuyuki Kitamoto</name>
<name sortKey="Mizusawa, Hidehiro" sort="Mizusawa, Hidehiro" uniqKey="Mizusawa H" first="Hidehiro" last="Mizusawa">Hidehiro Mizusawa</name>
<name sortKey="Nakamura, Yosikazu" sort="Nakamura, Yosikazu" uniqKey="Nakamura Y" first="Yosikazu" last="Nakamura">Yosikazu Nakamura</name>
<name sortKey="Sanjo, Nobuo" sort="Sanjo, Nobuo" uniqKey="Sanjo N" first="Nobuo" last="Sanjo">Nobuo Sanjo</name>
</country>
<country name="Australie"><noRegion><name sortKey="Collins, Steven J" sort="Collins, Steven J" uniqKey="Collins S" first="Steven J." last="Collins">Steven J. Collins</name>
</noRegion>
<name sortKey="Boyd, Alison" sort="Boyd, Alison" uniqKey="Boyd A" first="Alison" last="Boyd">Alison Boyd</name>
</country>
<country name="Royaume-Uni"><region name="Écosse"><name sortKey="Will, Robert G" sort="Will, Robert G" uniqKey="Will R" first="Robert G." last="Will">Robert G. Will</name>
</region>
<name sortKey="Knight, Richard" sort="Knight, Richard" uniqKey="Knight R" first="Richard" last="Knight">Richard Knight</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Ponto, Claudia" sort="Ponto, Claudia" uniqKey="Ponto C" first="Claudia" last="Ponto">Claudia Ponto</name>
</noRegion>
<name sortKey="Eigenbrod, Sabina" sort="Eigenbrod, Sabina" uniqKey="Eigenbrod S" first="Sabina" last="Eigenbrod">Sabina Eigenbrod</name>
<name sortKey="Giese, Armin" sort="Giese, Armin" uniqKey="Giese A" first="Armin" last="Giese">Armin Giese</name>
<name sortKey="Kraus, Theo F J" sort="Kraus, Theo F J" uniqKey="Kraus T" first="Theo F. J." last="Kraus">Theo F. J. Kraus</name>
<name sortKey="Zerr, Inga" sort="Zerr, Inga" uniqKey="Zerr I" first="Inga" last="Zerr">Inga Zerr</name>
</country>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Calero, Miguel" sort="Calero, Miguel" uniqKey="Calero M" first="Miguel" last="Calero">Miguel Calero</name>
</region>
<name sortKey="De Pedro Cuesta, Jesus" sort="De Pedro Cuesta, Jesus" uniqKey="De Pedro Cuesta J" first="Jesús" last="De Pedro-Cuesta">Jesús De Pedro-Cuesta</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Haik, Stephane" sort="Haik, Stephane" uniqKey="Haik S" first="Stéphane" last="Haïk">Stéphane Haïk</name>
</region>
<name sortKey="Bouaziz Amar, Elodie" sort="Bouaziz Amar, Elodie" uniqKey="Bouaziz Amar E" first="Elodie" last="Bouaziz-Amar">Elodie Bouaziz-Amar</name>
<name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean-Philippe" last="Brandel">Jean-Philippe Brandel</name>
<name sortKey="Brandel, Jean Philippe" sort="Brandel, Jean Philippe" uniqKey="Brandel J" first="Jean-Philippe" last="Brandel">Jean-Philippe Brandel</name>
<name sortKey="Haik, Stephane" sort="Haik, Stephane" uniqKey="Haik S" first="Stéphane" last="Haïk">Stéphane Haïk</name>
<name sortKey="Laplanche, Jean Louis" sort="Laplanche, Jean Louis" uniqKey="Laplanche J" first="Jean-Louis" last="Laplanche">Jean-Louis Laplanche</name>
</country>
<country name="Italie"><noRegion><name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
</noRegion>
<name sortKey="Capellari, Sabina" sort="Capellari, Sabina" uniqKey="Capellari S" first="Sabina" last="Capellari">Sabina Capellari</name>
<name sortKey="Ladogana, Anna" sort="Ladogana, Anna" uniqKey="Ladogana A" first="Anna" last="Ladogana">Anna Ladogana</name>
<name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
<name sortKey="Parchi, Piero" sort="Parchi, Piero" uniqKey="Parchi P" first="Piero" last="Parchi">Piero Parchi</name>
<name sortKey="Poleggi, Anna" sort="Poleggi, Anna" uniqKey="Poleggi A" first="Anna" last="Poleggi">Anna Poleggi</name>
</country>
<country name="Finlande"><noRegion><name sortKey="Laakso, Markku" sort="Laakso, Markku" uniqKey="Laakso M" first="Markku" last="Laakso">Markku Laakso</name>
</noRegion>
</country>
<country name="Suède"><region name="Svealand"><name sortKey="K Hler, Anna" sort="K Hler, Anna" uniqKey="K Hler A" first="Anna" last="K Hler">Anna K Hler</name>
</region>
<name sortKey="Hultman, Christina M" sort="Hultman, Christina M" uniqKey="Hultman C" first="Christina M." last="Hultman">Christina M. Hultman</name>
<name sortKey="Sullivan, Patrick F" sort="Sullivan, Patrick F" uniqKey="Sullivan P" first="Patrick F." last="Sullivan">Patrick F. Sullivan</name>
</country>
<country name="Pays-Bas"><noRegion><name sortKey="Van Der Lee, Sven J" sort="Van Der Lee, Sven J" uniqKey="Van Der Lee S" first="Sven J." last="Van Der Lee">Sven J. Van Der Lee</name>
</noRegion>
<name sortKey="Hofman, Albert" sort="Hofman, Albert" uniqKey="Hofman A" first="Albert" last="Hofman">Albert Hofman</name>
<name sortKey="Ikram, M Arfan" sort="Ikram, M Arfan" uniqKey="Ikram M" first="M. Arfan" last="Ikram">M. Arfan Ikram</name>
<name sortKey="Jansen, Casper" sort="Jansen, Casper" uniqKey="Jansen C" first="Casper" last="Jansen">Casper Jansen</name>
<name sortKey="Kraaij, Robert" sort="Kraaij, Robert" uniqKey="Kraaij R" first="Robert" last="Kraaij">Robert Kraaij</name>
<name sortKey="Rozemuller, Annemieke" sort="Rozemuller, Annemieke" uniqKey="Rozemuller A" first="Annemieke" last="Rozemuller">Annemieke Rozemuller</name>
<name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<name sortKey="Uitterlinden, Andre G" sort="Uitterlinden, Andre G" uniqKey="Uitterlinden A" first="André G." last="Uitterlinden">André G. Uitterlinden</name>
<name sortKey="Van Duijn, Cornelia M" sort="Van Duijn, Cornelia M" uniqKey="Van Duijn C" first="Cornelia M." last="Van Duijn">Cornelia M. Van Duijn</name>
<name sortKey="Van Rooij, Jeroen G J" sort="Van Rooij, Jeroen G J" uniqKey="Van Rooij J" first="Jeroen G. J." last="Van Rooij">Jeroen G. J. Van Rooij</name>
</country>
</tree>
</affiliations>
</record>
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