C
Catarina Correia
Researcher at Instituto Nacional de Saúde Dr. Ricardo Jorge
Publications - 23
Citations - 5373
Catarina Correia is an academic researcher from Instituto Nacional de Saúde Dr. Ricardo Jorge. The author has contributed to research in topics: Autism & Genome-wide association study. The author has an hindex of 17, co-authored 22 publications receiving 4895 citations. Previous affiliations of Catarina Correia include University of Lisbon & Instituto Gulbenkian de Ciência.
Papers
More filters
Journal ArticleDOI
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto,Alistair T. Pagnamenta,Lambertus Klei,Richard Anney,Daniele Merico,Regina Regan,Judith Conroy,Tiago R. Magalhaes,Tiago R. Magalhaes,Catarina Correia,Catarina Correia,Brett S. Abrahams,Joana Almeida,Elena Bacchelli,Gary D. Bader,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Sean Brennan,Jessica Brian,Susan E. Bryson,Andrew R. Carson,Guillermo Casallo,Jillian P. Casey,Brian H.Y. Chung,Lynne E Cochrane,Christina Corsello,Emily L. Crawford,Andrew Crossett,Cheryl Cytrynbaum,Geraldine Dawson,Maretha de Jonge,Richard Delorme,Irene Drmic,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,Christine M. Freitag,John Gilbert,Christopher Gillberg,Joseph T. Glessner,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Hakon Hakonarson,Elizabeth A. Heron,Matthew Hill,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Cecilia Kim,Sabine M. Klauck,Alexander Kolevzon,Olena Korvatska,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Anath C. Lionel,Anath C. Lionel,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Elena Maestrini,William M. Mahoney,Carine Mantoulan,Christian R. Marshall,Helen McConachie,Christopher J. McDougle,Jane McGrath,William M. McMahon,Alison K. Merikangas,Ohsuke Migita,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Stanley F. Nelson,Carolyn Noakes,Abdul Noor,Gudrun Nygren,Guiomar Oliveira,Katerina Papanikolaou,Jeremy R. Parr,Barbara Parrini,Tara Paton,Andrew Pickles,Marion Pilorge,Joseph Piven,Chris P. Ponting,David J. Posey,Annemarie Poustka,Fritz Poustka,Aparna Prasad,Jiannis Ragoussis,Katy Renshaw,Jessica Rickaby,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Laura J. Bierut,John P. Rice,Jeff Salt,Katherine Sansom,Daisuke Sato,Ricardo Segurado,Ana Filipa Sequeira,Lili Senman,Lili Senman,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Olaf Stein,Nuala Sykes,Vera Stoppioni,Christina Strawbridge,Raffaella Tancredi,Katherine E. Tansey,Bhooma Thiruvahindrapduram,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman Van Engeland,John B. Vincent,Fred R. Volkmar,Simon Wallace,Kai Wang,Zhouzhi Wang,Thomas H. Wassink,Caleb Webber,Rosanna Weksberg,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Jing Wu,Brian L. Yaspan,Danielle Zurawiecki,Lonnie Zwaigenbaum,Joseph D. Buxbaum,Rita M. Cantor,Edwin H. Cook,Hilary Coon,Michael L. Cuccaro,Bernie Devlin,Sean Ennis,Louise Gallagher,Daniel H. Geschwind,Michael Gill,Jonathan L. Haines,Joachim Hallmayer,Judith Miller,Anthony P. Monaco,John I. Nurnberger,Andrew D. Paterson,Margaret A. Pericak-Vance,Gerard D. Schellenberg,Peter Szatmari,Astrid M. Vicente,Veronica J. Vieland,Veronica J. Vieland,Ellen M. Wijsman,Stephen W. Scherer,James S. Sutcliffe,Catalina Betancur +181 more
TL;DR: The genome-wide characteristics of rare (<1% frequency) copy number variation in ASD are analysed using dense genotyping arrays to reveal many new genetic and functional targets in ASD that may lead to final connected pathways.
Journal ArticleDOI
Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders
Dalila Pinto,Elsa Delaby,Elsa Delaby,Elsa Delaby,Daniele Merico,Mafalda Barbosa,Alison K. Merikangas,Lambertus Klei,Bhooma Thiruvahindrapuram,Xiao Xu,Robert Ziman,Zhuozhi Wang,Jacob A. S. Vorstman,Ann P. Thompson,Regina Regan,Regina Regan,Marion Pilorge,Marion Pilorge,Marion Pilorge,Giovanna Pellecchia,Alistair T. Pagnamenta,Bárbara Oliveira,Bárbara Oliveira,Christian R. Marshall,Tiago R. Magalhaes,Tiago R. Magalhaes,Jennifer K. Lowe,Jennifer L. Howe,Anthony J. Griswold,John R. Gilbert,Eftichia Duketis,Beth A. Dombroski,Maretha de Jonge,Michael L. Cuccaro,Emily L. Crawford,Catarina Correia,Catarina Correia,Judith Conroy,Inȇs C. Conceição,Inȇs C. Conceição,Andreas G. Chiocchetti,Jillian P. Casey,Jillian P. Casey,Guiqing Cai,Christelle Cabrol,Christelle Cabrol,Christelle Cabrol,Nadia Bolshakova,Elena Bacchelli,Richard Anney,Steven Gallinger,Michelle Cotterchio,Graham Casey,Lonnie Zwaigenbaum,Kerstin Wittemeyer,Kirsty Wing,Simon Wallace,Herman van Engeland,Ana Tryfon,Susanne Thomson,Latha Soorya,Bernadette Rogé,Wendy Roberts,Fritz Poustka,Susana Mouga,Nancy J. Minshew,L. Alison McInnes,Susan G. McGrew,Catherine Lord,Marion Leboyer,Ann Le Couteur,Alexander Kolevzon,Patricia Jiménez González,Suma Jacob,Suma Jacob,Richard Holt,Stephen J. Guter,Jonathan Green,Andrew Green,Andrew Green,Christopher Gillberg,Bridget A. Fernandez,Frederico Duque,Richard Delorme,Geraldine Dawson,Pauline Chaste,Cátia Café,Sean Brennan,Thomas Bourgeron,Patrick Bolton,Patrick Bolton,Sven Bölte,Raphael Bernier,Gillian Baird,Anthony J. Bailey,Evdokia Anagnostou,Joana Almeida,Ellen M. Wijsman,Veronica J. Vieland,Astrid M. Vicente,Astrid M. Vicente,Gerard D. Schellenberg,Margaret A. Pericak-Vance,Andrew D. Paterson,Jeremy R. Parr,Guiomar Oliveira,John I. Nurnberger,Anthony P. Monaco,Anthony P. Monaco,Elena Maestrini,Sabine M. Klauck,Hakon Hakonarson,Jonathan L. Haines,Daniel H. Geschwind,Christine M. Freitag,Susan E. Folstein,Sean Ennis,Sean Ennis,Hilary Coon,Agatino Battaglia,Peter Szatmari,James S. Sutcliffe,Joachim Hallmayer,Michael Gill,Edwin H. Cook,Joseph D. Buxbaum,Bernie Devlin,Louise Gallagher,Catalina Betancur,Catalina Betancur,Catalina Betancur,Stephen W. Scherer +131 more
TL;DR: For example, the authors analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability.
Journal ArticleDOI
A genome-wide linkage and association scan reveals novel loci for autism
Lauren A. Weiss,Lauren A. Weiss,Dan E. Arking,Mark J. Daly,Mark J. Daly,Aravinda Chakravarti,Camille W. Brune,Kristen West,Ashley O'Connor,Gina Hilton,Rebecca L. Tomlinson,Andrew B. West,Edwin H. Cook,Todd Green,Shun-Chiao Chang,Stacey Gabriel,Casey Gates,Ellen M. Hanson,Andrew Kirby,Andrew Kirby,Joshua M. Korn,Joshua M. Korn,Finny G Kuruvilla,Finny G Kuruvilla,Steven A. McCarroll,Steven A. McCarroll,Eric M. Morrow,Eric M. Morrow,Eric M. Morrow,Benjamin M. Neale,Benjamin M. Neale,Shaun Purcell,Shaun Purcell,Roksana Sasanfar,Carrie Sougnez,Christine Stevens,David Altshuler,David Altshuler,James F. Gusella,James F. Gusella,Susan L. Santangelo,Pamela Sklar,Pamela Sklar,Rudolph E. Tanzi,Richard Anney,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Catalina Betancur,Sven Bölte,Patrick Bolton,Jessica Brian,Susan E. Bryson,Joseph D. Buxbaum,Inês Cabrito,Guiqing Cai,Rita M. Cantor,Hilary Coon,Judith Conroy,Catarina Correia,Christina Corsello,Emily L. Crawford,Michael L. Cuccaro,Geraldine Dawson,Maretha de Jonge,Bernie Devlin,Eftichia Duketis,Sean Ennis,Annette Estes,Penny Farrar,Eric Fombonne,Christine M. Freitag,Louise Gallagher,Daniel H. Geschwind,John R. Gilbert,Michael Gill,Christopher Gillberg,Jeremy Goldberg,Andrew Green,Jonathan Green,Stephen J. Guter,Jonathan L. Haines,Joachim Hallmayer,Vanessa Hus,Sabine M. Klauck,Olena Korvatska,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventha,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Elena Maestrini,Tiago R. Magalhaes,William M. Mahoney,Carine Mantoulan,Helen McConachie,Christopher J. McDougle,William M. McMahon,Christian R. Marshall,Judith Miller,Nancy J. Minshew,Anthony P. Monaco,Jeff Munson,John I. Nurnberger,Guiomar Oliveira,Alistair T. Pagnamenta,Katerina Papanikolaou,Jeremy R. Parr,Andrew D. Paterson,Margaret A. Pericak-Vance,Andrew Pickles,Dalila Pinto,Joseph Piven,David J. Posey,Annemarie Poustka,Fritz Poustka,Regina Regan,Jennifer Reichert,Katy Renshaw,Wendy Roberts,Bernadette Rogé,Michael Rutter,Jeff Salt,Gerard D. Schellenberg,Stephen W. Scherer,Val C. Sheffield,James S. Sutcliffe,Peter Szatmari,Katherine E. Tansey,Ann P. Thompson,John Tsiantis,Herman van Engeland,Astrid M. Vicente,Veronica J. Vieland,Fred R. Volkmar,Simon Wallace,Thomas H. Wassink,Ellen M. Wijsman,Kirsty Wing,Kerstin Wittemeyer,Brian L. Yaspan,Lonnie Zwaigenbaum,Seung Yun Yoo,Seung Yun Yoo,Seung Yun Yoo,Robert Sean Hill,Robert Sean Hill,Robert Sean Hill,Nahit Motavalli Mukaddes,Soher Balkhy,Generoso G. Gascon,Generoso G. Gascon,Samira Al-Saad,Asif Hashmi,Janice Ware,Robert M. Joseph,Elaine LeClair,Jennifer N. Partlow,Jennifer N. Partlow,Brenda E. Barry,Brenda E. Barry,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,David L. Pauls,Irma Moilanen,Hanna Ebeling,Marja Leena Mattila,Sanna Kuusikko,Katja Jussila,Jaakko Ignatius,Ala Tolouei,Majid Ghadami,Maryam Rostami,Azam Hosseinipour,Maryam Valujerdi,Kara Andresen,Brian Winkloski,Stephen A. Haddad,Lou Kunkel,Zak Kohane,Tram Tran,Sek Won Kong,Stephanie Brewster O'Neil,Rachel J. Hundley,Ingrid A. Holm,Heather Peters,Elizabeth Baroni,Aislyn Cangialose,Lindsay Jackson,Lisa H. Albers,Ronald E. Becker,Carolyn Bridgemohan,Sandra L. Friedman,Kerim Munir,Ramzi Nazir,Judith S. Palfrey,Alison Schonwald,Esau Simmons,Leonard Rappaport,Julie Gauthier,Laurent Mottron,Ridha Joober,Guy A. Rouleau,Karola Rehnström,Karola Rehnström,Lennart von Wendt,Lennart von Wendt,Leena Peltonen,Leena Peltonen,Leena Peltonen +214 more
TL;DR: A linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms in a common set of 1,031 multiplex autism families, implicating SEMA5A as an autism susceptibility gene.
Journal ArticleDOI
A genome-wide scan for common alleles affecting risk for autism
Richard Anney,Lambertus Klei,Dalila Pinto,Regina Regan,Judith Conroy,Tiago R. Magalhaes,Tiago R. Magalhaes,Catarina Correia,Catarina Correia,Brett S. Abrahams,Nuala Sykes,Alistair T. Pagnamenta,Joana Almeida,Elena Bacchelli,Anthony J. Bailey,Gillian Baird,Agatino Battaglia,Tom Berney,Nadia Bolshakova,Sven Bölte,Patrick Bolton,Thomas Bourgeron,Sean Brennan,Jessica Brian,Andrew R. Carson,Guillermo Casallo,Jillian P. Casey,Su H. Chu,Lynne E Cochrane,Christina Corsello,Emily L. Crawford,Andrew Crossett,Geraldine Dawson,Geraldine Dawson,Maretha de Jonge,Richard Delorme,Irene Drmic,Eftichia Duketis,Frederico Duque,Annette Estes,Penny Farrar,Bridget A. Fernandez,Susan E. Folstein,Eric Fombonne,Christine M. Freitag,John B. Gilbert,Christopher Gillberg,Joseph T. Glessner,Jeremy Goldberg,Jonathan Green,Stephen J. Guter,Hakon Hakonarson,Elizabeth A. Heron,Matthew Nicholas Hill,Richard Holt,Jennifer L. Howe,Gillian Hughes,Vanessa Hus,Roberta Igliozzi,Cecilia Kim,Sabine M. Klauck,Alexander Kolevzon,Olena Korvatska,Vlad Kustanovich,Clara Lajonchere,Janine A. Lamb,Magdalena Laskawiec,Marion Leboyer,Ann Le Couteur,Bennett L. Leventhal,Bennett L. Leventhal,Anath C. Lionel,Xiao-Qing Liu,Catherine Lord,Linda Lotspeich,Sabata C. Lund,Elena Maestrini,William M. Mahoney,Carine Mantoulan,Christian R. Marshall,Helen McConachie,Christopher J. McDougle,Jane McGrath,William M. McMahon,Nadine M. Melhem,Alison K. Merikangas,Ohsuke Migita,Nancy J. Minshew,Ghazala Mirza,Jeff Munson,Stanley F. Nelson,Carolyn Noakes,Abdul Noor,Gudrun Nygren,Guiomar Oliveira,Katerina Papanikolaou,Jeremy R. Parr,Barbara Parrini,Tara Paton,Andrew Pickles,Joseph Piven,David J. Posey,Annemarie Poustka,Fritz Poustka,Aparna Prasad,Jiannis Ragoussis,Katy Renshaw,Jessica Rickaby,Wendy Roberts,Kathryn Roeder,Bernadette Rogé,Michael Rutter,Laura J. Bierut,John P. Rice,Jeff Salt,Katherine Sansom,Daisuke Sato,Ricardo Segurado,Lili Senman,Naisha Shah,Val C. Sheffield,Latha Soorya,Inês Sousa,Vera Stoppioni,Christina Strawbridge,Raffaella Tancredi,Katherine E. Tansey,Bhooma Thiruvahindrapduram,Ann P. Thompson,Susanne Thomson,Ana Tryfon,John Tsiantis,Herman van Engeland,John B. Vincent,Fred R. Volkmar,Simon Wallace,Kai Wang,Zhouzhi Wang,Thomas H. Wassink,Kirsty Wing,Kerstin Wittemeyer,Shawn Wood,Brian L. Yaspan,Danielle Zurawiecki,Lonnie Zwaigenbaum,Catalina Betancur,Joseph D. Buxbaum,Rita M. Cantor,Edwin H. Cook,Hilary Coon,Michael L. Cuccaro,Louise Gallagher,Daniel H. Geschwind,Michael Gill,Jonathan L. Haines,Judith Miller,Anthony P. Monaco,John I. Nurnberger,Andrew D. Paterson,Margaret A. Pericak-Vance,Gerard D. Schellenberg,Stephen W. Scherer,James S. Sutcliffe,Peter Szatmari,Astrid M. Vicente,Astrid M. Vicente,Veronica J. Vieland,Ellen M. Wijsman,Bernie Devlin,Sean Ennis,Joachim Hallmayer +170 more
TL;DR: In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10−8 and, consistent with the winner's curse, its effect size in the replication sample was much smaller.
Journal ArticleDOI
Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia
Richard Anney,Richard Anney,Stephan Ripke,Stephan Ripke,Stephan Ripke,Verneri Anttila,Jakob Grove,Jakob Grove,Peter Holmans,Hailiang Huang,Hailiang Huang,Lambertus Klei,Phil Lee,Phil Lee,Sarah E. Medland,Benjamin M. Neale,Benjamin M. Neale,Elise Robinson,Elise Robinson,Lauren A. Weiss,Lonnie Zwaigenbaum,Timothy W. Yu,Kerstin Wittemeyer,A. Jeremy Willsey,Ellen M. Wijsman,Thomas Werge,Thomas Werge,Thomas Werge,Thomas H. Wassink,Regina Waltes,Christopher A. Walsh,Christopher A. Walsh,Christopher A. Walsh,Simon Wallace,Jacob A. S. Vorstman,Veronica J. Vieland,Astrid M. Vicente,Herman Vanengeland,Kathryn Tsang,Kathryn Tsang,Ann P. Thompson,Peter Szatmari,Oscar Svantesson,Stacy Steinberg,K. Stefansson,Hreinn Stefansson,Matthew W. State,Latha Soorya,Latha Soorya,Teimuraz Silagadze,Stephen W. Scherer,Gerard D. Schellenberg,Sven Sandin,Stephen Sanders,Evald Saemundsen,Guy A. Rouleau,Bernadette Rogé,Kathryn Roeder,Wendy Roberts,Jennifer Reichert,Jennifer Reichert,Abraham Reichenberg,Abraham Reichenberg,Karola Rehnström,Regina Regan,Regina Regan,Fritz Poustka,Christopher S. Poultney,Christopher S. Poultney,Joseph Piven,Dalila Pinto,Dalila Pinto,Dalila Pinto,Margaret A. Pericak-Vance,Milica Pejovic-Milovancevic,Marianne Giørtz Pedersen,Marianne Giørtz Pedersen,Carsten Bøcker Pedersen,Carsten Bøcker Pedersen,Andrew D. Paterson,Andrew D. Paterson,Jeremy R. Parr,Alistair T. Pagnamenta,Guiomar Oliveira,John I. Nurnberger,Merete Nordentoft,Merete Nordentoft,Michael T. Murtha,Susana Mouga,Susana Mouga,Preben Bo Mortensen,Ole Mors,Ole Mors,Eric M. Morrow,Daniel Moreno-De-Luca,Anthony P. Monaco,Anthony P. Monaco,Nancy J. Minshew,Alison Merikangas,William M. McMahon,Susan G. McGrew,Manuel Mattheisen,Manuel Mattheisen,Manuel Mattheisen,Igor Martsenkovsky,Donna M. Martin,Shrikant Mane,Pall Magnusson,Tiago R. Magalhaes,Tiago R. Magalhaes,Elena Maestrini,Jennifer K. Lowe,Catherine Lord,Pat Levitt,Christa Lese Martin,David H. Ledbetter,Marion Leboyer,Ann S Le-Couteur,Ann S Le-Couteur,Christine Ladd-Acosta,Alexander Kolevzon,Sabine M. Klauck,Suma Jacob,Suma Jacob,Bozenna Iliadou,Christina M. Hultman,David M. Hougaard,David M. Hougaard,Irva Hertz-Picciotto,Robert L. Hendren,Christine Søholm Hansen,Christine Søholm Hansen,J. Haines,Stephen J. Guter,D.E. Grice,Jonathan Green,Andrew Green,Arthur P. Goldberg,Arthur P. Goldberg,Christopher Gillberg,John R. Gilbert,Louise Gallagher,Christine M. Freitag,Eric Fombonne,Susan E. Folstein,Bridget A. Fernandez,M. Daniele Fallin,A. Gulhan Ercan-Sencicek,Sean Ennis,Sean Ennis,Frederico Duque,Eftichia Duketis,Richard Delorme,Silvia Derubeis,Maretha V. Dejonge,Geraldine Dawson,Michael L. Cuccaro,Catarina Correia,Catarina Correia,Judith Conroy,Judith Conroy,Inês C. Conceição,Inês C. Conceição,Andreas G. Chiocchetti,Patrícia B. S. Celestino-Soper,Jillian P. Casey,Jillian P. Casey,Rita M. Cantor,Cátia Café,Jonas Bybjerg-Grauholm,Jonas Bybjerg-Grauholm,Sean Brennan,Thomas Bourgeron,Patrick Bolton,Patrick Bolton,Sven Bölte,Sven Bölte,Sven Bölte,Nadia Bolshakova,Catalina Betancur,Catalina Betancur,Catalina Betancur,Raphael Bernier,Arthur L. Beaudet,Agatino Battaglia,Vanessa H. Bal,Gillian Baird,Anthony J. Bailey,Anthony J. Bailey,Marie Bækvad-Hansen,Marie Bækvad-Hansen,Joel S. Bader,Elena Bacchelli,Evdokia Anagnostou,David G. Amaral,Joana Almeida,Anders D. Børglum,Anders D. Børglum,Joseph D. Buxbaum,Joseph D. Buxbaum,Aravinda Chakravarti,Edwin H. Cook,Hilary Coon,Daniel H. Geschwind,Daniel H. Geschwind,Michael Gill,Joachim Hallmayer,Aarno Palotie,Susan L. Santangelo,James S. Sutcliffe,Dan E. Arking,Bernie Devlin,Mark J. Daly,Mark J. Daly,Hakon Hakonarson +214 more
TL;DR: A significant genetic correlation with schizophrenia and association of ASD with several neurodevelopmental-related genes such as EXT1, ASTN2, MACROD2, and HDAC4 is identified and identified.