Joseph T Glessner

Joseph T Glessner

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Joseph T Glessner

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CNV Association of Diverse Clinical Phenotypes from eMERGE reveals novel disease biology underlying cardiovascular disease.

Int J Cardiol 2019 Jul 19. Epub 2019 Jul 19.

The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ijcard.2019.07.058DOI Listing
July 2019

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Copy Number Variations in CTNNA3 and RBFOX1 Associate with Pediatric Food Allergy.

J Immunol 2015 Aug 17;195(4):1599-607. Epub 2015 Jul 17.

Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104

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http://dx.doi.org/10.4049/jimmunol.1402310DOI Listing
August 2015

CNV Analysis Associates AKNAD1 with Type-2 Diabetes in Jordan Subpopulations.

Sci Rep 2015 Aug 21;5:13391. Epub 2015 Aug 21.

Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1038/srep13391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543987PMC
August 2015

Rare variants at 16p11.2 are associated with common variable immunodeficiency.

J Allergy Clin Immunol 2015 Jun 10;135(6):1569-77. Epub 2015 Feb 10.

Center for Applied Genomics, Abramson Research Center, Children's Hospital of Philadelphia, Philadelphia, Pa; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pa; Department of Pediatrics, Perelman School of Medicine Philadelphia, University of Pennsylvania, Philadelphia, Pa. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2014.12.1939DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461447PMC
June 2015

Rare genomic deletions and duplications and their role in neurodevelopmental disorders.

Curr Top Behav Neurosci 2012 ;12:345-60

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1007/7854_2011_179DOI Listing
January 2015

Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations.

Hum Mol Genet 2015 Jan 18;24(1):265-73. Epub 2014 Aug 18.

Division of Cardiology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/hmg/ddu420DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4326325PMC
January 2015

Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Front Genet 2014 18;5:51. Epub 2014 Mar 18.

The Center for Applied Genomics, Children's Hospital of Philadelphia Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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http://dx.doi.org/10.3389/fgene.2014.00051DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957100PMC
June 2014

A genome wide association study of plasma uric acid levels in obese cases and never-overweight controls.

Obesity (Silver Spring) 2013 Sep 24;21(9):E490-4. Epub 2013 May 24.

Center for Neurobiology and Behavior, Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA; Research Center of Basic Medical Sciences, Tianjin Medical University, Tianjin, 300070, China.

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http://dx.doi.org/10.1002/oby.20303DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762924PMC
September 2013

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Appl Clin Genet 2009 9;2:1-5. Epub 2009 Dec 9.

Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA ; Department of Pediatrics and Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3681036PMC
http://dx.doi.org/10.2147/tacg.s4089DOI Listing
June 2013

Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility gene.

Gastroenterology 2013 May 18;144(5):1107-1115.e3. Epub 2013 Jan 18.

Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia Research Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1053/j.gastro.2013.01.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3736559PMC
May 2013

ParseCNV integrative copy number variation association software with quality tracking.

Nucleic Acids Res 2013 Mar 4;41(5):e64. Epub 2013 Jan 4.

Department of Pediatrics, Division of Human Genetics, The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1093/nar/gks1346DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3597648PMC
March 2013

Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.

J Clin Endocrinol Metab 2013 Jan 21;98(1):E191-5. Epub 2012 Nov 21.

Key Laboratory of Biomedical Information Engineering of Ministry of Education, and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, People's Republic of China.

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http://dx.doi.org/10.1210/jc.2012-2751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3537105PMC
January 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

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Authors:
Jillian P Casey Tiago Magalhaes Judith M Conroy Regina Regan Naisha Shah Richard Anney Denis C Shields Brett S Abrahams Joana Almeida Elena Bacchelli Anthony J Bailey Gillian Baird Agatino Battaglia Tom Berney Nadia Bolshakova Patrick F Bolton Thomas Bourgeron Sean Brennan Phil Cali Catarina Correia Christina Corsello Marc Coutanche Geraldine Dawson Maretha de Jonge Richard Delorme Eftichia Duketis Frederico Duque Annette Estes Penny Farrar Bridget A Fernandez Susan E Folstein Suzanne Foley Eric Fombonne Christine M Freitag John Gilbert Christopher Gillberg Joseph T Glessner Jonathan Green Stephen J Guter Hakon Hakonarson Richard Holt Gillian Hughes Vanessa Hus Roberta Igliozzi Cecilia Kim Sabine M Klauck Alexander Kolevzon Janine A Lamb Marion Leboyer Ann Le Couteur Bennett L Leventhal Catherine Lord Sabata C Lund Elena Maestrini Carine Mantoulan Christian R Marshall Helen McConachie Christopher J McDougle Jane McGrath William M McMahon Alison Merikangas Judith Miller Fiorella Minopoli Ghazala K Mirza Jeff Munson Stanley F Nelson Gudrun Nygren Guiomar Oliveira Alistair T Pagnamenta Katerina Papanikolaou Jeremy R Parr Barbara Parrini Andrew Pickles Dalila Pinto Joseph Piven David J Posey Annemarie Poustka Fritz Poustka Jiannis Ragoussis Bernadette Roge Michael L Rutter Ana F Sequeira Latha Soorya Inês Sousa Nuala Sykes Vera Stoppioni Raffaella Tancredi Maïté Tauber Ann P Thompson Susanne Thomson John Tsiantis Herman Van Engeland John B Vincent Fred Volkmar Jacob A S Vorstman Simon Wallace Kai Wang Thomas H Wassink Kathy White Kirsty Wing Kerstin Wittemeyer Brian L Yaspan Lonnie Zwaigenbaum Catalina Betancur Joseph D Buxbaum Rita M Cantor Edwin H Cook Hilary Coon Michael L Cuccaro Daniel H Geschwind Jonathan L Haines Joachim Hallmayer Anthony P Monaco John I Nurnberger Margaret A Pericak-Vance Gerard D Schellenberg Stephen W Scherer James S Sutcliffe Peter Szatmari Veronica J Vieland Ellen M Wijsman Andrew Green Michael Gill Louise Gallagher Astrid Vicente Sean Ennis

Hum Genet 2012 Apr 14;131(4):565-79. Epub 2011 Oct 14.

School of Medicine and Medical Science University College, Dublin, Ireland.

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http://researchrepository.ucd.ie/bitstream/handle/10197/6163
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http://link.springer.com/10.1007/s00439-011-1094-6
Publisher Site
http://dx.doi.org/10.1007/s00439-011-1094-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

Authors:
Richa Saxena Clara C Elbers Yiran Guo Inga Peter Tom R Gaunt Jessica L Mega Matthew B Lanktree Archana Tare Berta Almoguera Castillo Yun R Li Toby Johnson Marcel Bruinenberg Diane Gilbert-Diamond Ramakrishnan Rajagopalan Benjamin F Voight Ashok Balasubramanyam John Barnard Florianne Bauer Jens Baumert Tushar Bhangale Bernhard O Böhm Peter S Braund Paul R Burton Hareesh R Chandrupatla Robert Clarke Rhonda M Cooper-DeHoff Errol D Crook George Davey-Smith Ian N Day Anthonius de Boer Mark C H de Groot Fotios Drenos Jane Ferguson Caroline S Fox Clement E Furlong Quince Gibson Christian Gieger Lisa A Gilhuijs-Pederson Joseph T Glessner Anuj Goel Yan Gong Struan F A Grant Diederick E Grobbee Claire Hastie Steve E Humphries Cecilia E Kim Mika Kivimaki Marcus Kleber Christa Meisinger Meena Kumari Taimour Y Langaee Debbie A Lawlor Mingyao Li Maximilian T Lobmeyer Anke-Hilse Maitland-van der Zee Matthijs F L Meijs Cliona M Molony David A Morrow Gurunathan Murugesan Solomon K Musani Christopher P Nelson Stephen J Newhouse Jeffery R O'Connell Sandosh Padmanabhan Jutta Palmen Sanjey R Patel Carl J Pepine Mary Pettinger Thomas S Price Suzanne Rafelt Jane Ranchalis Asif Rasheed Elisabeth Rosenthal Ingo Ruczinski Sonia Shah Haiqing Shen Günther Silbernagel Erin N Smith Annemieke W M Spijkerman Alice Stanton Michael W Steffes Barbara Thorand Mieke Trip Pim van der Harst Daphne L van der A Erik P A van Iperen Jessica van Setten Jana V van Vliet-Ostaptchouk Niek Verweij Bruce H R Wolffenbuttel Taylor Young M Hadi Zafarmand Joseph M Zmuda Michael Boehnke David Altshuler Mark McCarthy W H Linda Kao James S Pankow Thomas P Cappola Peter Sever Neil Poulter Mark Caulfield Anna Dominiczak Denis C Shields Deepak L Bhatt Deepak Bhatt Li Zhang Sean P Curtis John Danesh Juan P Casas Yvonne T van der Schouw N Charlotte Onland-Moret Pieter A Doevendans Gerald W Dorn Martin Farrall Garret A FitzGerald Anders Hamsten Robert Hegele Aroon D Hingorani Marten H Hofker Gordon S Huggins Thomas Illig Gail P Jarvik Julie A Johnson Olaf H Klungel William C Knowler Wolfgang Koenig Winfried März James B Meigs Olle Melander Patricia B Munroe Braxton D Mitchell Susan J Bielinski Daniel J Rader Muredach P Reilly Stephen S Rich Jerome I Rotter Danish Saleheen Nilesh J Samani Eric E Schadt Alan R Shuldiner Roy Silverstein Kandice Kottke-Marchant Philippa J Talmud Hugh Watkins Folkert W Asselbergs Folkert Asselbergs Paul I W de Bakker Jeanne McCaffery Cisca Wijmenga Marc S Sabatine James G Wilson Alex Reiner Donald W Bowden Hakon Hakonarson David S Siscovick Brendan J Keating

Am J Hum Genet 2012 Mar 9;90(3):410-25. Epub 2012 Feb 9.

Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA.

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http://dx.doi.org/10.1016/j.ajhg.2011.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3309185PMC
March 2012

Genome-wide association identifies diverse causes of common variable immunodeficiency.

J Allergy Clin Immunol 2011 Jun 17;127(6):1360-7.e6. Epub 2011 Apr 17.

Division of Allergy and Immunology, Children's Hospital of Philadelphia Research Institute, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA.

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http://dx.doi.org/10.1016/j.jaci.2011.02.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3646656PMC
June 2011

Genome-wide association: from confounded to confident.

Neuroscientist 2011 Apr 20;17(2):174-84. Epub 2011 Jan 20.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

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http://dx.doi.org/10.1177/1073858410381533DOI Listing
April 2011

A genome-wide association study on obesity and obesity-related traits.

PLoS One 2011 Apr 28;6(4):e18939. Epub 2011 Apr 28.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0018939PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3084240PMC
April 2011

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

Authors:
Matthew B Lanktree Yiran Guo Muhammed Murtaza Joseph T Glessner Swneke D Bailey N Charlotte Onland-Moret Guillaume Lettre Halit Ongen Ramakrishnan Rajagopalan Toby Johnson Haiqing Shen Christopher P Nelson Norman Klopp Jens Baumert Sandosh Padmanabhan Nathan Pankratz James S Pankow Sonia Shah Kira Taylor John Barnard Bas J Peters Cliona M Maloney Maximilian T Lobmeyer Alice Stanton M Hadi Zafarmand Simon P R Romaine Amar Mehta Erik P A van Iperen Yan Gong Tom S Price Erin N Smith Cecilia E Kim Yun R Li Folkert W Asselbergs Larry D Atwood Kristian M Bailey Deepak Bhatt Florianne Bauer Elijah R Behr Tushar Bhangale Jolanda M A Boer Bernhard O Boehm Jonathan P Bradfield Morris Brown Peter S Braund Paul R Burton Cara Carty Hareesh R Chandrupatla Wei Chen John Connell Chrysoula Dalgeorgou Anthonius de Boer Fotios Drenos Clara C Elbers James C Fang Caroline S Fox Edward C Frackelton Barry Fuchs Clement E Furlong Quince Gibson Christian Gieger Anuj Goel Diederik E Grobbee Claire Hastie Philip J Howard Guan-Hua Huang W Craig Johnson Qing Li Marcus E Kleber Barbara E K Klein Ronald Klein Charles Kooperberg Bonnie Ky Andrea Lacroix Paul Lanken Mark Lathrop Mingyao Li Vanessa Marshall Olle Melander Frank D Mentch Nuala J Meyer Keri L Monda Alexandre Montpetit Gurunathan Murugesan Karen Nakayama Dave Nondahl Abiodun Onipinla Suzanne Rafelt Stephen J Newhouse F George Otieno Sanjey R Patel Mary E Putt Santiago Rodriguez Radwan N Safa Douglas B Sawyer Pamela J Schreiner Claire Simpson Suthesh Sivapalaratnam Sathanur R Srinivasan Christine Suver Gary Swergold Nancy K Sweitzer Kelly A Thomas Barbara Thorand Nicholas J Timpson Sam Tischfield Martin Tobin Maciej Tomaszewski Maciej Tomaszweski W M Monique Verschuren Chris Wallace Bernhard Winkelmann Haitao Zhang Dongling Zheng Li Zhang Joseph M Zmuda Robert Clarke Anthony J Balmforth John Danesh Ian N Day Nicholas J Schork Paul I W de Bakker Christian Delles David Duggan Aroon D Hingorani Joel N Hirschhorn Marten H Hofker Steve E Humphries Mika Kivimaki Debbie A Lawlor Kandice Kottke-Marchant Jessica L Mega Braxton D Mitchell David A Morrow Jutta Palmen Susan Redline Denis C Shields Alan R Shuldiner Patrick M Sleiman George Davey Smith Martin Farrall Yalda Jamshidi David C Christiani Juan P Casas Alistair S Hall Pieter A Doevendans Jason D Christie Gerald S Berenson Sarah S Murray Thomas Illig Gerald W Dorn Thomas P Cappola Eric Boerwinkle Peter Sever Daniel J Rader Muredach P Reilly Mark Caulfield Philippa J Talmud Eric Topol James C Engert Kai Wang Anna Dominiczak Anders Hamsten Sean P Curtis Roy L Silverstein Leslie A Lange Marc S Sabatine Mieke Trip Danish Saleheen John F Peden Karen J Cruickshanks Winfried März Jeffrey R O'Connell Olaf H Klungel Cisca Wijmenga Anke Hilse Maitland-van der Zee Eric E Schadt Julie A Johnson Gail P Jarvik George J Papanicolaou Struan F A Grant Patricia B Munroe Kari E North Nilesh J Samani Wolfgang Koenig Tom R Gaunt Sonia S Anand Yvonne T van der Schouw Nicole Soranzo Garret A Fitzgerald Alex Reiner Robert A Hegele Hakon Hakonarson Brendan J Keating

Am J Hum Genet 2011 Jan 30;88(1):6-18. Epub 2010 Dec 30.

Department of Medicine and Biochemistry, University of Western Ontario, London, Ontario, N6A 5C1, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2010.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014369PMC
January 2011

Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population.

Am J Psychiatry 2010 Nov 15;167(11):1364-72. Epub 2010 Jul 15.

Medical Research Council Centre for Causal Analyses in Translational Epidemiology, University of Bristol, Bristol, UK.

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http://dx.doi.org/10.1176/appi.ajp.2010.09121789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3008767PMC
November 2010

Large copy-number variations are enriched in cases with moderate to extreme obesity.

Diabetes 2010 Oct 9;59(10):2690-4. Epub 2010 Jul 9.

Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.2337/db10-0192DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3279563PMC
October 2010

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://hmg.oxfordjournals.org/content/19/20/4072.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddq307
Publisher Site
http://dx.doi.org/10.1093/hmg/ddq307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Analysis of GWAS top hits in ADHD suggests association to two polymorphisms located in genes expressed in the cerebellum.

Am J Med Genet B Neuropsychiatr Genet 2010 Sep;153B(6):1127-33

Department of Child and Adolescent Psychiatry, The Children's Hospital of Philadelphia, Science Center, 3440 Market Street, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1002/ajmg.b.31110DOI Listing
September 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

Common variants in polygenic schizophrenia.

Genome Biol 2009 29;10(9):236. Epub 2009 Sep 29.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/gb-2009-10-9-236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2768969PMC
February 2010

Common variants at five new loci associated with early-onset inflammatory bowel disease.

Authors:
Marcin Imielinski Robert N Baldassano Anne Griffiths Richard K Russell Vito Annese Marla Dubinsky Subra Kugathasan Jonathan P Bradfield Thomas D Walters Patrick Sleiman Cecilia E Kim Aleixo Muise Kai Wang Joseph T Glessner Shehzad Saeed Haitao Zhang Edward C Frackelton Cuiping Hou James H Flory George Otieno Rosetta M Chiavacci Robert Grundmeier Massimo Castro Anna Latiano Bruno Dallapiccola Joanne Stempak Debra J Abrams Kent Taylor Dermot McGovern Gary Silber Iwona Wrobel Antonio Quiros Jeffrey C Barrett Sarah Hansoul Dan L Nicolae Judy H Cho Richard H Duerr John D Rioux Steven R Brant Mark S Silverberg Kent D Taylor M Michael Barmuda Alain Bitton Themistocles Dassopoulos Lisa Wu Datta Todd Green Anne M Griffiths Emily O Kistner Michael T Murtha Miguel D Regueiro Jerome I Rotter L Philip Schumm A Hillary Steinhart Stephen R Targan Ramnik J Xavier Cécile Libioulle Cynthia Sandor Mark Lathrop Jacques Belaiche Olivier Dewit Ivo Gut Simon Heath Debby Laukens Myriam Mni Paul Rutgeerts André Van Gossum Diana Zelenika Denis Franchimont J P Hugot Martine de Vos Severine Vermeire Edouard Louis Lon R Cardon Carl A Anderson Hazel Drummond Elaine Nimmo Tariq Ahmad Natalie J Prescott Clive M Onnie Sheila A Fisher Jonathan Marchini Jilur Ghori Suzannah Bumpstead Rhian Gwillam Mark Tremelling Panos Delukas John Mansfield Derek Jewell Jack Satsangi Christopher G Mathew Miles Parkes Michel Georges Mark J Daly Melvin B Heyman George D Ferry Barbara Kirschner Jessica Lee Jonah Essers Richard Grand Michael Stephens Arie Levine David Piccoli John Van Limbergen Salvatore Cucchiara Dimitri S Monos Stephen L Guthery Lee Denson David C Wilson Straun F A Grant Mark Daly Mark S Silverberg Jack Satsangi Hakon Hakonarson

Nat Genet 2009 Dec 15;41(12):1335-40. Epub 2009 Nov 15.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/ng.489DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267927PMC
December 2009