Astrid M Vicente

Astrid M Vicente

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Astrid M Vicente

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Definition of a putative pathological region in PARK2 associated with autism spectrum disorder through in silico analysis of its functional structure.

Psychiatr Genet 2017 04;27(2):54-61

aNational Health Institute Doutor Ricardo Jorge bBiosystems and Integrative Sciences Institute (BioISI), Lisboa cInstituto Gulbenkian de Ciência, Oeiras dUnidade de Neurodesenvolvimento e Autismo, Centro de Desenvolvimento da Criança e Centro Investigação e Formação Clínica, Hospital Pediátrico, Centro Hospitalar e University of Coimbra, Coimbra eInstitute for Biomedical Imaging and Life Sciences, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.

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http://dx.doi.org/10.1097/YPG.0000000000000159DOI Listing
April 2017

Protein interaction networks reveal novel autism risk genes within GWAS statistical noise.

PLoS One 2014 19;9(11):e112399. Epub 2014 Nov 19.

Departamento de Promoção da Saúde e Doenças não Transmissíveis, Instituto Nacional de Saúde Doutor Ricardo Jorge, 1649-016 Lisboa, Portugal; Center for Biodiversity, Functional & Integrative Genomics, Faculty of Sciences, University of Lisbon, 1749-016 Lisboa, Portugal; Instituto Gulbenkian de Ciência, 2780-156 Oeiras, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0112399PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4237351PMC
July 2015

Hope for GWAS: relevant risk genes uncovered from GWAS statistical noise.

Int J Mol Sci 2014 Sep 29;15(10):17601-21. Epub 2014 Sep 29.

Instituto Gulbenkian de Ciência, Oeiras 2780-156, Portugal.

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http://dx.doi.org/10.3390/ijms151017601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4227180PMC
September 2014

Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data.

Authors:
Michael V Holmes Caroline E Dale Luisa Zuccolo Richard J Silverwood Yiran Guo Zheng Ye David Prieto-Merino Abbas Dehghan Stella Trompet Andrew Wong Alana Cavadino Dagmar Drogan Sandosh Padmanabhan Shanshan Li Ajay Yesupriya Maarten Leusink Johan Sundstrom Jaroslav A Hubacek Hynek Pikhart Daniel I Swerdlow Andrie G Panayiotou Svetlana A Borinskaya Chris Finan Sonia Shah Karoline B Kuchenbaecker Tina Shah Jorgen Engmann Lasse Folkersen Per Eriksson Fulvio Ricceri Olle Melander Carlotta Sacerdote Dale M Gamble Sruti Rayaprolu Owen A Ross Stela McLachlan Olga Vikhireva Ivonne Sluijs Robert A Scott Vera Adamkova Leon Flicker Frank M van Bockxmeer Christine Power Pedro Marques-Vidal Tom Meade Michael G Marmot Jose M Ferro Sofia Paulos-Pinheiro Steve E Humphries Philippa J Talmud Irene Mateo Leach Niek Verweij Allan Linneberg Tea Skaaby Pieter A Doevendans Maarten J Cramer Pim van der Harst Olaf H Klungel Nicole F Dowling Anna F Dominiczak Meena Kumari Andrew N Nicolaides Cornelia Weikert Heiner Boeing Shah Ebrahim Tom R Gaunt Jackie F Price Lars Lannfelt Anne Peasey Ruzena Kubinova Andrzej Pajak Sofia Malyutina Mikhail I Voevoda Abdonas Tamosiunas Anke H Maitland-van der Zee Paul E Norman Graeme J Hankey Manuela M Bergmann Albert Hofman Oscar H Franco Jackie Cooper Jutta Palmen Wilko Spiering Pim A de Jong Diana Kuh Rebecca Hardy Andre G Uitterlinden M Arfan Ikram Ian Ford Elina Hyppönen Osvaldo P Almeida Nicholas J Wareham Kay-Tee Khaw Anders Hamsten Lise Lotte N Husemoen Anne Tjønneland Janne S Tolstrup Eric Rimm Joline W J Beulens W M Monique Verschuren N Charlotte Onland-Moret Marten H Hofker S Goya Wannamethee Peter H Whincup Richard Morris Astrid M Vicente Hugh Watkins Martin Farrall J Wouter Jukema James Meschia L Adrienne Cupples Stephen J Sharp Myriam Fornage Charles Kooperberg Andrea Z LaCroix James Y Dai Matthew B Lanktree David S Siscovick Eric Jorgenson Bonnie Spring Josef Coresh Yun R Li Sarah G Buxbaum Pamela J Schreiner R Curtis Ellison Michael Y Tsai Sanjay R Patel Susan Redline Andrew D Johnson Ron C Hoogeveen Hakon Hakonarson Jerome I Rotter Eric Boerwinkle Paul I W de Bakker Mika Kivimaki Folkert W Asselbergs Naveed Sattar Debbie A Lawlor John Whittaker George Davey Smith Kenneth Mukamal Bruce M Psaty James G Wilson Leslie A Lange Ajna Hamidovic Aroon D Hingorani Børge G Nordestgaard Martin Bobak David A Leon Claudia Langenberg Tom M Palmer Alex P Reiner Brendan J Keating Frank Dudbridge Juan P Casas

BMJ 2014 Jul 10;349:g4164. Epub 2014 Jul 10.

Genetic Epidemiology Group, Institute of Cardiovascular Science, Department of Epidemiology and Public Health, University College London, UK Faculty of Epidemiology and Population Health, London School of Hygiene & Tropical Medicine, London, WC1E 7HT, UK

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4091648PMC
http://dx.doi.org/10.1136/bmj.g4164DOI Listing
July 2014

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.

Authors:
Dalila Pinto Elsa Delaby Daniele Merico Mafalda Barbosa Alison Merikangas Lambertus Klei Bhooma Thiruvahindrapuram Xiao Xu Robert Ziman Zhuozhi Wang Jacob A S Vorstman Ann Thompson Regina Regan Marion Pilorge Giovanna Pellecchia Alistair T Pagnamenta Bárbara Oliveira Christian R Marshall Tiago R Magalhaes Jennifer K Lowe Jennifer L Howe Anthony J Griswold John Gilbert Eftichia Duketis Beth A Dombroski Maretha V De Jonge Michael Cuccaro Emily L Crawford Catarina T Correia Judith Conroy Inês C Conceição Andreas G Chiocchetti Jillian P Casey Guiqing Cai 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 Minshew L Alison McInnes Susan G McGrew Catherine Lord Marion Leboyer Ann S Le Couteur Alexander Kolevzon Patricia Jiménez González Suma Jacob Richard Holt Stephen Guter Jonathan Green Andrew Green Christopher Gillberg Bridget A Fernandez Frederico Duque Richard Delorme Geraldine Dawson Pauline Chaste Cátia Café Sean Brennan Thomas Bourgeron Patrick F Bolton Sven Bölte Raphael Bernier Gillian Baird Anthony J Bailey Evdokia Anagnostou Joana Almeida Ellen M Wijsman Veronica J Vieland Astrid M Vicente Gerard D Schellenberg Margaret Pericak-Vance Andrew D Paterson Jeremy R Parr Guiomar Oliveira John I Nurnberger Anthony P Monaco Elena Maestrini Sabine M Klauck Hakon Hakonarson Jonathan L Haines Daniel H Geschwind Christine M Freitag Susan E Folstein 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 Stephen W Scherer

Am J Hum Genet 2014 May 24;94(5):677-94. Epub 2014 Apr 24.

Program in Genetics and Genome Biology, The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON M5G 1L7, Canada; McLaughlin Centre, University of Toronto, Toronto, ON M5S 1A1, Canada. Electronic address:

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http://www.cell.com/ajhg/pdf/S0002-9297(14)00150-5.pdf
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https://hal.archives-ouvertes.fr/inserm-00986225/file/mmc1.p
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http://linkinghub.elsevier.com/retrieve/pii/S000292971400150
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http://dx.doi.org/10.1016/j.ajhg.2014.03.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4067558PMC
May 2014

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.

Authors:
S Hong Lee Stephan Ripke Benjamin M Neale Stephen V Faraone Shaun M Purcell Roy H Perlis Bryan J Mowry Anita Thapar Michael E Goddard John S Witte Devin Absher Ingrid Agartz Huda Akil Farooq Amin Ole A Andreassen Adebayo Anjorin Richard Anney Verneri Anttila Dan E Arking Philip Asherson Maria H Azevedo Lena Backlund Judith A Badner Anthony J Bailey Tobias Banaschewski Jack D Barchas Michael R Barnes Thomas B Barrett Nicholas Bass Agatino Battaglia Michael Bauer Mònica Bayés Frank Bellivier Sarah E Bergen Wade Berrettini Catalina Betancur Thomas Bettecken Joseph Biederman Elisabeth B Binder Donald W Black Douglas H R Blackwood Cinnamon S Bloss Michael Boehnke Dorret I Boomsma Gerome Breen René Breuer Richard Bruggeman Paul Cormican Nancy G Buccola Jan K Buitelaar William E Bunney Joseph D Buxbaum William F Byerley Enda M Byrne Sian Caesar Wiepke Cahn Rita M Cantor Miguel Casas Aravinda Chakravarti Kimberly Chambert Khalid Choudhury Sven Cichon C Robert Cloninger David A Collier Edwin H Cook Hilary Coon Bru Cormand Aiden Corvin William H Coryell David W Craig Ian W Craig Jennifer Crosbie Michael L Cuccaro David Curtis Darina Czamara Susmita Datta Geraldine Dawson Richard Day Eco J De Geus Franziska Degenhardt Srdjan Djurovic Gary J Donohoe Alysa E Doyle Jubao Duan Frank Dudbridge Eftichia Duketis Richard P Ebstein Howard J Edenberg Josephine Elia Sean Ennis Bruno Etain Ayman Fanous Anne E Farmer I Nicol Ferrier Matthew Flickinger Eric Fombonne Tatiana Foroud Josef Frank Barbara Franke Christine Fraser Robert Freedman Nelson B Freimer Christine M Freitag Marion Friedl Louise Frisén Louise Gallagher Pablo V Gejman Lyudmila Georgieva Elliot S Gershon Daniel H Geschwind Ina Giegling Michael Gill Scott D Gordon Katherine Gordon-Smith Elaine K Green Tiffany A Greenwood Dorothy E Grice Magdalena Gross Detelina Grozeva Weihua Guan Hugh Gurling Lieuwe De Haan Jonathan L Haines Hakon Hakonarson Joachim Hallmayer Steven P Hamilton Marian L Hamshere Thomas F Hansen Annette M Hartmann Martin Hautzinger Andrew C Heath Anjali K Henders Stefan Herms Ian B Hickie Maria Hipolito Susanne Hoefels Peter A Holmans Florian Holsboer Witte J Hoogendijk Jouke-Jan Hottenga Christina M Hultman Vanessa Hus Andrés Ingason Marcus Ising Stéphane Jamain Edward G Jones Ian Jones Lisa Jones Jung-Ying Tzeng Anna K Kähler René S Kahn Radhika Kandaswamy Matthew C Keller James L Kennedy Elaine Kenny Lindsey Kent Yunjung Kim George K Kirov Sabine M Klauck Lambertus Klei James A Knowles Martin A Kohli Daniel L Koller Bettina Konte Ania Korszun Lydia Krabbendam Robert Krasucki Jonna Kuntsi Phoenix Kwan Mikael Landén Niklas Långström Mark Lathrop Jacob Lawrence William B Lawson Marion Leboyer David H Ledbetter Phil H Lee Todd Lencz Klaus-Peter Lesch Douglas F Levinson Cathryn M Lewis Jun Li Paul Lichtenstein Jeffrey A Lieberman Dan-Yu Lin Don H Linszen Chunyu Liu Falk W Lohoff Sandra K Loo Catherine Lord Jennifer K Lowe Susanne Lucae Donald J MacIntyre Pamela A F Madden Elena Maestrini Patrik K E Magnusson Pamela B Mahon Wolfgang Maier Anil K Malhotra Shrikant M Mane Christa L Martin Nicholas G Martin Manuel Mattheisen Keith Matthews Morten Mattingsdal Steven A McCarroll Kevin A McGhee James J McGough Patrick J McGrath Peter McGuffin Melvin G McInnis Andrew McIntosh Rebecca McKinney Alan W McLean Francis J McMahon William M McMahon Andrew McQuillin Helena Medeiros Sarah E Medland Sandra Meier Ingrid Melle Fan Meng Jobst Meyer Christel M Middeldorp Lefkos Middleton Vihra Milanova Ana Miranda Anthony P Monaco Grant W Montgomery Jennifer L Moran Daniel Moreno-De-Luca Gunnar Morken Derek W Morris Eric M Morrow Valentina Moskvina Pierandrea Muglia Thomas W Mühleisen Walter J Muir Bertram Müller-Myhsok Michael Murtha Richard M Myers Inez Myin-Germeys Michael C Neale Stan F Nelson Caroline M Nievergelt Ivan Nikolov Vishwajit Nimgaonkar Willem A Nolen Markus M Nöthen John I Nurnberger Evaristus A Nwulia Dale R Nyholt Colm O'Dushlaine Robert D Oades Ann Olincy Guiomar Oliveira Line Olsen Roel A Ophoff Urban Osby Michael J Owen Aarno Palotie Jeremy R Parr Andrew D Paterson Carlos N Pato Michele T Pato Brenda W Penninx Michele L Pergadia Margaret A Pericak-Vance Benjamin S Pickard Jonathan Pimm Joseph Piven Danielle Posthuma James B Potash Fritz Poustka Peter Propping Vinay Puri Digby J Quested Emma M Quinn Josep Antoni Ramos-Quiroga Henrik B Rasmussen Soumya Raychaudhuri Karola Rehnström Andreas Reif Marta Ribasés John P Rice Marcella Rietschel Kathryn Roeder Herbert Roeyers Lizzy Rossin Aribert Rothenberger Guy Rouleau Douglas Ruderfer Dan Rujescu Alan R Sanders Stephan J Sanders Susan L Santangelo Joseph A Sergeant Russell Schachar Martin Schalling Alan F Schatzberg William A Scheftner Gerard D Schellenberg Stephen W Scherer Nicholas J Schork Thomas G Schulze Johannes Schumacher Markus Schwarz Edward Scolnick Laura J Scott Jianxin Shi Paul D Shilling Stanley I Shyn Jeremy M Silverman Susan L Slager Susan L Smalley Johannes H Smit Erin N Smith Edmund J S Sonuga-Barke David St Clair Matthew State Michael Steffens Hans-Christoph Steinhausen John S Strauss Jana Strohmaier T Scott Stroup James S Sutcliffe Peter Szatmari Szabocls Szelinger Srinivasa Thirumalai Robert C Thompson Alexandre A Todorov Federica Tozzi Jens Treutlein Manfred Uhr Edwin J C G van den Oord Gerard Van Grootheest Jim Van Os Astrid M Vicente Veronica J Vieland John B Vincent Peter M Visscher Christopher A Walsh Thomas H Wassink Stanley J Watson Myrna M Weissman Thomas Werge Thomas F Wienker Ellen M Wijsman Gonneke Willemsen Nigel Williams A Jeremy Willsey Stephanie H Witt Wei Xu Allan H Young Timothy W Yu Stanley Zammit Peter P Zandi Peng Zhang Frans G Zitman Sebastian Zöllner Bernie Devlin John R Kelsoe Pamela Sklar Mark J Daly Michael C O'Donovan Nicholas Craddock Patrick F Sullivan Jordan W Smoller Kenneth S Kendler Naomi R Wray

Nat Genet 2013 Sep 11;45(9):984-94. Epub 2013 Aug 11.

The University of Queensland, Queensland Brain Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1038/ng.2711DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3800159PMC
September 2013

Dysfunction of the Heteromeric KV7.3/KV7.5 Potassium Channel is Associated with Autism Spectrum Disorders.

Front Genet 2013 16;4:54. Epub 2013 Apr 16.

Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark ; Section for Neurogenetics, Department of Cellular and Molecular Medicine, University of Copenhagen Copenhagen, Denmark.

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http://dx.doi.org/10.3389/fgene.2013.00054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3627139PMC
April 2013

Individual common variants exert weak effects on the risk for autism spectrum disorders.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Joana Almeida Elena Bacchelli Gillian Baird Nadia Bolshakova Sven Bölte Patrick F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Jillian Casey Judith Conroy Catarina Correia Christina Corsello Emily L Crawford Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Eric Fombonne John Gilbert Christopher Gillberg Joseph T Glessner Andrew Green Jonathan Green Stephen J Guter Elizabeth A Heron Richard Holt Jennifer L Howe Gillian Hughes Vanessa Hus Roberta Igliozzi Suma Jacob Graham P Kenny Cecilia Kim Alexander Kolevzon Vlad Kustanovich Clara M Lajonchere Janine A Lamb Miriam Law-Smith Marion Leboyer Ann Le Couteur Bennett L Leventhal Xiao-Qing Liu Frances Lombard Catherine Lord Linda Lotspeich Sabata C Lund Tiago R Magalhaes Carine Mantoulan Christopher J McDougle Nadine M Melhem Alison Merikangas Nancy J Minshew Ghazala K Mirza Jeff Munson Carolyn Noakes Gudrun Nygren Katerina Papanikolaou Alistair T Pagnamenta Barbara Parrini Tara Paton Andrew Pickles David J Posey Fritz Poustka Jiannis Ragoussis Regina Regan Wendy Roberts Kathryn Roeder Bernadette Roge Michael L Rutter Sabine Schlitt Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Vera Stoppioni Nuala Sykes Raffaella Tancredi Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar J A S Vorstman Simon Wallace Kirsty Wing Kerstin Wittemeyer Shawn Wood Danielle Zurawiecki Lonnie Zwaigenbaum Anthony J Bailey Agatino Battaglia Rita M Cantor Hilary Coon Michael L Cuccaro Geraldine Dawson Sean Ennis Christine M Freitag Daniel H Geschwind Jonathan L Haines Sabine M Klauck William M McMahon Elena Maestrini Judith Miller Anthony P Monaco Stanley F Nelson John I Nurnberger Guiomar Oliveira Jeremy R Parr Margaret A Pericak-Vance Joseph Piven Gerard D Schellenberg Stephen W Scherer Astrid M Vicente Thomas H Wassink Ellen M Wijsman Catalina Betancur Joseph D Buxbaum Edwin H Cook Louise Gallagher Michael Gill Joachim Hallmayer Andrew D Paterson James S Sutcliffe Peter Szatmari Veronica J Vieland Hakon Hakonarson Bernie Devlin

Hum Mol Genet 2012 Nov 26;21(21):4781-92. Epub 2012 Jul 26.

Autism Genetics Group, Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://dx.doi.org/10.1093/hmg/dds301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3471395PMC
November 2012

Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.

Lancet Neurol 2012 Nov 5;11(11):951-62. Epub 2012 Oct 5.

Stroke and Dementia Research Centre, St George's University of London, London, UK.

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http://dx.doi.org/10.1016/S1474-4422(12)70234-XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3490334PMC
November 2012

Variants within the nitric oxide synthase 1 gene are associated with stroke susceptibility.

Atherosclerosis 2012 Feb 19;220(2):443-8. Epub 2011 Nov 19.

Departamento Promoção da Saúde e Doenças Crónicas, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisbon, Portugal.

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http://dx.doi.org/10.1016/j.atherosclerosis.2011.11.011DOI Listing
February 2012

Variants in the inflammatory IL6 and MPO genes modulate stroke susceptibility through main effects and gene-gene interactions.

J Cereb Blood Flow Metab 2011 Aug 16;31(8):1751-9. Epub 2011 Mar 16.

Departamento Promoção da Saúde e Doenças Crónicas, Instituto Nacional de Saúde Dr Ricardo Jorge, Lisbon, Portugal.

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http://dx.doi.org/10.1038/jcbfm.2011.27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3170942PMC
August 2011

Replication of the CELSR1 association with ischemic stroke in a Portuguese case-control cohort.

Atherosclerosis 2011 Jul 29;217(1):260-2. Epub 2011 Mar 29.

Clinical Neurology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisboa, Portugal.

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http://dx.doi.org/10.1016/j.atherosclerosis.2011.03.022DOI Listing
July 2011

A genome-wide scan for common alleles affecting risk for autism.

Authors:
Richard Anney Lambertus Klei Dalila Pinto Regina Regan Judith Conroy Tiago R Magalhaes 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 F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Andrew R Carson Guillermo Casallo Jillian Casey Su H Chu Lynne Cochrane Christina Corsello Emily L Crawford Andrew Crossett 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 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 M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Nadine M Melhem Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K 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 Roge Michael L 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 Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred 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 Veronica J Vieland Ellen M Wijsman Bernie Devlin Sean Ennis Joachim Hallmayer

Hum Mol Genet 2010 Oct 27;19(20):4072-82. Epub 2010 Jul 27.

Department of Psychiatry, School of Medicine, Trinity College, Dublin 8, Ireland.

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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
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http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Functional impact of global rare copy number variation in autism spectrum disorders.

Authors:
Dalila Pinto Alistair T Pagnamenta Lambertus Klei Richard Anney Daniele Merico Regina Regan Judith Conroy Tiago R Magalhaes 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 F Bolton Thomas Bourgeron Sean Brennan Jessica Brian Susan E Bryson Andrew R Carson Guillermo Casallo Jillian Casey Brian H Y Chung Lynne 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 M Lajonchere Janine A Lamb Magdalena Laskawiec Marion Leboyer Ann Le Couteur Bennett L Leventhal Anath C Lionel Xiao-Qing Liu Catherine Lord Linda Lotspeich Sabata C Lund Elena Maestrini William Mahoney Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Ohsuke Migita Nancy J Minshew Ghazala K 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 Roge Michael L Rutter Laura J Bierut John P Rice Jeff Salt Katherine Sansom Daisuke Sato Ricardo Segurado Ana F Sequeira Lili Senman Naisha Shah Val C Sheffield Latha Soorya Inês Sousa Olaf Stein Nuala Sykes Vera Stoppioni Christina Strawbridge Raffaella Tancredi Katherine Tansey Bhooma Thiruvahindrapduram Ann P Thompson Susanne Thomson Ana Tryfon John Tsiantis Herman Van Engeland John B Vincent Fred 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 Ellen M Wijsman Stephen W Scherer James S Sutcliffe Catalina Betancur

Nature 2010 Jul 9;466(7304):368-72. Epub 2010 Jun 9.

The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.

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http://dx.doi.org/10.1038/nature09146DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3021798PMC
July 2010

Linkage disequilibrium and diversity for three genomic regions in Azoreans and mainland Portuguese.

Genet Mol Biol 2009 Apr 1;32(2):220-6. Epub 2009 Jun 1.

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, São Miguel Island, Azores Portugal.

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http://dx.doi.org/10.1590/S1415-47572009000200003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3036928PMC
April 2009

Evaluation of linkage disequilibrium on the Xq13.3 region: comparison between the Azores islands and mainland Portugal.

Am J Hum Biol 2008 May-Jun;20(3):364-6

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo of Ponta Delgada, EPE, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20734DOI Listing
June 2008

Genetic signature of the São Miguel Island population (Azores) assessed by 21 microsatellite loci.

Am J Hum Biol 2008 Jan-Feb;20(1):118-20

Molecular Genetics and Pathology Unit, Hospital of Divino Espírito Santo, Ponta Delgada, São Miguel Island, Azores, Portugal.

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http://dx.doi.org/10.1002/ajhb.20692DOI Listing
January 2008

Pharmacogenetics of risperidone response and induced side effects.

Per Med 2007 Aug;4(3):271-293

Instituto Gulbenkian de Ciência, Oeiras, Portugal.

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http://dx.doi.org/10.2217/17410541.4.3.271DOI Listing
August 2007