Cecilia Kim

Cecilia Kim

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Cecilia Kim

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Examining Radiation Treatment Appointment Times at a Canadian Cancer Centre: A Timing Study.

J Med Imaging Radiat Sci 2019 Oct 16. Epub 2019 Oct 16.

Department of Radiation Therapy, Vancouver Cancer Centre, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1016/j.jmir.2019.08.011DOI Listing
October 2019

Does the melatonin receptor 1B gene polymorphism have a role in postoperative delirium?

PLoS One 2018 27;13(11):e0207941. Epub 2018 Nov 27.

Department of Anesthesiology and Critical Care, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0207941PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258533PMC
April 2019

Genetic Reduction in Left Ventricular Protein Kinase C-α and Adverse Ventricular Remodeling in Human Subjects.

Circ Genom Precis Med 2018 03;11(3):e001901

From the Penn Cardiovascular Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia (R.H., M.P.M., J.B., K.B.M., T.P.C.); Cardiovascular Research Center (N.R.T., V.A.P., P.T.E.) and Center for Human Genetic Research and Cardiovascular Research Center (C.N.-C.), Massachusetts General Hospital, Boston; Department of Statistics, University of Illinois at Urbana-Champaign (S.D.Z.); Heidelberg University Hospital, Germany (B.M., H.A.K.); Department of Genetic Epidemiology, Institute of Human Genetics, University of Münster, Germany (F.R., M.S.); INSERM UMRS1166-IACN, Hôpital Pitié-Salpêtrière, Paris, France (E.V., F.C.); Section of Computational Biomedicine, Department of Medicine, Boston University School of Medicine, MA (H.L.); Department of Epidemiology, University of Washington, Seattle (N.L.S.); Department of Epidemiology, Erasmus MC, University Medical Center Rotterdam, the Netherlands (J.F.F.); Boston University School of Medicine, MA (R.S.V.); Department of Cardiology, University of Groningen, University Medical Center Groningen, the Netherlands (P.v.d.H.); Medical and Population Genetics Program, Broad Institute, Cambridge, MA (C.N.-C.); Center for Applied Genomics, Children's Hospital of Philadelphia, PA (J.L., C.E.K., H.H.); Center for Bioinformatics and Computational Biology, University of Maryland, College Park (S.H.); Stanford Center for Inherited Cardiovascular Disease, Stanford University School of Medicine, CA (E.A.A.); Department of Cardiovascular Medicine, Cleveland Clinic, OH (C.S.M., W.H.W.T.); and Howard Hughes Medical Institute and Cincinnati Children's Hospital Medical Center, OH (M.M., J.D.M.).

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http://dx.doi.org/10.1161/CIRCGEN.117.001901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5858599PMC
March 2018

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism.

J Clin Endocrinol Metab 2017 05;102(5):1726-1733

Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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http://dx.doi.org/10.1210/jc.2016-3836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5443324PMC
May 2017

Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.

BMC Musculoskelet Disord 2016 11 9;17(1):462. Epub 2016 Nov 9.

Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, 3615 Civic Center Blvd Ste 1216, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s12891-016-1320-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5103422PMC
November 2016

Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.

PLoS One 2016 24;11(3):e0151521. Epub 2016 Mar 24.

Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151521PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4806872PMC
August 2016

Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.

Inflamm Bowel Dis 2016 07;22(7):1540-51

*Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; †Department of Computer Science, New Jersey Institute of Technology, Newark, New Jersey; ‡Center for Pediatric Inflammatory Bowel Disease, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; §Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania; and ‖Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1097/MIB.0000000000000785DOI Listing
July 2016

Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.

J Clin Endocrinol Metab 2016 05 10;101(5):2196-200. Epub 2016 Mar 10.

The Center for Applied Genomics (D.L., L.T., C.H., C.E.K., H.H.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104; Department of Pediatrics (H.H., M.A.L.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104; and Division of Endocrinology and Diabetes and the Center for Bone Health (M.A.L.), The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104.

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http://dx.doi.org/10.1210/jc.2016-1211DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4870850PMC
May 2016

Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function.

Case Rep Genet 2016 16;2016:4140780. Epub 2016 Mar 16.

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

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http://www.hindawi.com/journals/crig/2016/4140780/
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http://dx.doi.org/10.1155/2016/4140780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4812228PMC
April 2016

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant.

BMC Musculoskelet Disord 2016 Feb 16;17:80. Epub 2016 Feb 16.

Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, 3615 Civic center Blvd, Philadelphia, PA, 19104, USA.

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http://dx.doi.org/10.1186/s12891-016-0936-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754938PMC
February 2016

Genome-wide association study of serum minerals levels in children of different ethnic background.

PLoS One 2015 17;10(4):e0123499. Epub 2015 Apr 17.

The Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America; Division of Human Genetics, 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.0123499PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401557PMC
January 2016

Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.

Am J Med Genet A 2015 Nov 25;167A(11):2497-502. Epub 2015 Jun 25.

Department of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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http://dx.doi.org/10.1002/ajmg.a.37217DOI Listing
November 2015

Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

Hum Reprod 2015 Oct 24;30(10):2439-51. Epub 2015 Jul 24.

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Molecular Medicine, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1093/humrep/dev180DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573451PMC
October 2015

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

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

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

J Urol 2015 May 25;193(5):1637-45. Epub 2014 Oct 25.

Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Molecular Medicine, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1016/j.juro.2014.10.097DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4406821PMC
May 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

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.

Nat Commun 2014 Jun 13;5:4074. Epub 2014 Jun 13.

1] The Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA [2] Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/ncomms5074DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4059929PMC
June 2014

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

Genome Med 2013 26;5(7):67. Epub 2013 Jul 26.

Center for Applied Genomics, Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Philadelphia, PA 19104, USA ; Department of Pediatrics, University of Pennsylvania School of Medicine, 3451 Walnut St, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1186/gm471DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3971341PMC
May 2014

Gene network analysis in a pediatric cohort identifies novel lung function genes.

PLoS One 2013 2;8(9):e72899. Epub 2013 Sep 2.

Division of Pulmonary Medicine and Cystic Fibrosis Center, The 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.0072899PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3759429PMC
April 2014

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

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.

Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2013.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3675260PMC
June 2013

Whole-genome sequencing in an autism multiplex family.

Mol Autism 2013 Apr 18;4(1). Epub 2013 Apr 18.

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

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http://dx.doi.org/10.1186/2040-2392-4-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3642023PMC
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

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
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http://dx.doi.org/10.1007/s00439-011-1094-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3303079PMC
April 2012

Common variants at 12q15 and 12q24 are associated with infant head circumference.

Nat Genet 2012 Apr 15;44(5):532-538. Epub 2012 Apr 15.

Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/ng.2238DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3773913PMC
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

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.

Authors:
Lavinia Paternoster Marie Standl Chih-Mei Chen Adaikalavan Ramasamy Klaus Bønnelykke Liesbeth Duijts Manuel A Ferreira Alexessander Couto Alves Jacob P Thyssen Eva Albrecht Hansjörg Baurecht Bjarke Feenstra Patrick M A Sleiman Pirro Hysi Nicole M Warrington Ivan Curjuric Ronny Myhre John A Curtin Maria M Groen-Blokhuis Marjan Kerkhof Annika Sääf Andre Franke David Ellinghaus Regina Fölster-Holst Emmanouil Dermitzakis Stephen B Montgomery Holger Prokisch Katharina Heim Anna-Liisa Hartikainen Anneli Pouta Juha Pekkanen Alexandra I F Blakemore Jessica L Buxton Marika Kaakinen David L Duffy Pamela A Madden Andrew C Heath Grant W Montgomery Philip J Thompson Melanie C Matheson Peter Le Souëf Beate St Pourcain George Davey Smith John Henderson John P Kemp Nicholas J Timpson Panos Deloukas Susan M Ring H-Erich Wichmann Martina Müller-Nurasyid Natalija Novak Norman Klopp Elke Rodríguez Wendy McArdle Allan Linneberg Torkil Menné Ellen A Nohr Albert Hofman André G Uitterlinden Cornélia M van Duijn Fernando Rivadeneira Johan C de Jongste Ralf J P van der Valk Matthias Wjst Rain Jogi Frank Geller Heather A Boyd Jeffrey C Murray Cecilia Kim Frank Mentch Michael March Massimo Mangino Tim D Spector Veronique Bataille Craig E Pennell Patrick G Holt Peter Sly Carla M T Tiesler Elisabeth Thiering Thomas Illig Medea Imboden Wenche Nystad Angela Simpson Jouke-Jan Hottenga Dirkje Postma Gerard H Koppelman Henriette A Smit Cilla Söderhäll Bo Chawes Eskil Kreiner-Møller Hans Bisgaard Erik Melén Dorret I Boomsma Adnan Custovic Bo Jacobsson Nicole M Probst-Hensch Lyle J Palmer Daniel Glass Hakon Hakonarson Mads Melbye Deborah L Jarvis Vincent W V Jaddoe Christian Gieger David P Strachan Nicholas G Martin Marjo-Riitta Jarvelin Joachim Heinrich David M Evans Stephan Weidinger

Nat Genet 2011 Dec 25;44(2):187-92. Epub 2011 Dec 25.

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

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http://www.tweelingenregister.org/nederlands/verslaggeving/N
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http://www.nature.com/doifinder/10.1038/ng.1017
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http://dx.doi.org/10.1038/ng.1017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3272375PMC
December 2011

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Authors:
Stephen Sawcer Garrett Hellenthal Matti Pirinen Chris C A Spencer Nikolaos A Patsopoulos Loukas Moutsianas Alexander Dilthey Zhan Su Colin Freeman Sarah E Hunt Sarah Edkins Emma Gray David R Booth Simon C Potter An Goris Gavin Band Annette Bang Oturai Amy Strange Janna Saarela Céline Bellenguez Bertrand Fontaine Matthew Gillman Bernhard Hemmer Rhian Gwilliam Frauke Zipp Alagurevathi Jayakumar Roland Martin Stephen Leslie Stanley Hawkins Eleni Giannoulatou Sandra D'alfonso Hannah Blackburn Filippo Martinelli Boneschi Jennifer Liddle Hanne F Harbo Marc L Perez Anne Spurkland Matthew J Waller Marcin P Mycko Michelle Ricketts Manuel Comabella Naomi Hammond Ingrid Kockum Owen T McCann Maria Ban Pamela Whittaker Anu Kemppinen Paul Weston Clive Hawkins Sara Widaa John Zajicek Serge Dronov Neil Robertson Suzannah J Bumpstead Lisa F Barcellos Rathi Ravindrarajah Roby Abraham Lars Alfredsson Kristin Ardlie Cristin Aubin Amie Baker Katharine Baker Sergio E Baranzini Laura Bergamaschi Roberto Bergamaschi Allan Bernstein Achim Berthele Mike Boggild Jonathan P Bradfield David Brassat Simon A Broadley Dorothea Buck Helmut Butzkueven Ruggero Capra William M Carroll Paola Cavalla Elisabeth G Celius Sabine Cepok Rosetta Chiavacci Françoise Clerget-Darpoux Katleen Clysters Giancarlo Comi Mark Cossburn Isabelle Cournu-Rebeix Mathew B Cox Wendy Cozen Bruce A C Cree Anne H Cross Daniele Cusi Mark J Daly Emma Davis Paul I W de Bakker Marc Debouverie Marie Beatrice D'hooghe Katherine Dixon Rita Dobosi Bénédicte Dubois David Ellinghaus Irina Elovaara Federica Esposito Claire Fontenille Simon Foote Andre Franke Daniela Galimberti Angelo Ghezzi Joseph Glessner Refujia Gomez Olivier Gout Colin Graham Struan F A Grant Franca Rosa Guerini Hakon Hakonarson Per Hall Anders Hamsten Hans-Peter Hartung Rob N Heard Simon Heath Jeremy Hobart Muna Hoshi Carmen Infante-Duarte Gillian Ingram Wendy Ingram Talat Islam Maja Jagodic Michael Kabesch Allan G Kermode Trevor J Kilpatrick Cecilia Kim Norman Klopp Keijo Koivisto Malin Larsson Mark Lathrop Jeannette S Lechner-Scott Maurizio A Leone Virpi Leppä Ulrika Liljedahl Izaura Lima Bomfim Robin R Lincoln Jenny Link Jianjun Liu Aslaug R Lorentzen Sara Lupoli Fabio Macciardi Thomas Mack Mark Marriott Vittorio Martinelli Deborah Mason Jacob L McCauley Frank Mentch Inger-Lise Mero Tania Mihalova Xavier Montalban John Mottershead Kjell-Morten Myhr Paola Naldi William Ollier Alison Page Aarno Palotie Jean Pelletier Laura Piccio Trevor Pickersgill Fredrik Piehl Susan Pobywajlo Hong L Quach Patricia P Ramsay Mauri Reunanen Richard Reynolds John D Rioux Mariaemma Rodegher Sabine Roesner Justin P Rubio Ina-Maria Rückert Marco Salvetti Erika Salvi Adam Santaniello Catherine A Schaefer Stefan Schreiber Christian Schulze Rodney J Scott Finn Sellebjerg Krzysztof W Selmaj David Sexton Ling Shen Brigid Simms-Acuna Sheila Skidmore Patrick M A Sleiman Cathrine Smestad Per Soelberg Sørensen Helle Bach Søndergaard Jim Stankovich Richard C Strange Anna-Maija Sulonen Emilie Sundqvist Ann-Christine Syvänen Francesca Taddeo Bruce Taylor Jenefer M Blackwell Pentti Tienari Elvira Bramon Ayman Tourbah Matthew A Brown Ewa Tronczynska Juan P Casas Niall Tubridy Aiden Corvin Jane Vickery Janusz Jankowski Pablo Villoslada Hugh S Markus Kai Wang Christopher G Mathew James Wason Colin N A Palmer H-Erich Wichmann Robert Plomin Ernest Willoughby Anna Rautanen Juliane Winkelmann Michael Wittig Richard C Trembath Jacqueline Yaouanq Ananth C Viswanathan Haitao Zhang Nicholas W Wood Rebecca Zuvich Panos Deloukas Cordelia Langford Audrey Duncanson Jorge R Oksenberg Margaret A Pericak-Vance Jonathan L Haines Tomas Olsson Jan Hillert Adrian J Ivinson Philip L De Jager Leena Peltonen Graeme J Stewart David A Hafler Stephen L Hauser Gil McVean Peter Donnelly Alastair Compston

Nature 2011 Aug 10;476(7359):214-9. Epub 2011 Aug 10.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3182531PMC
August 2011

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

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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3014369PMC
January 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC2947401PMC
October 2010

Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel disease.

Inflamm Bowel Dis 2010 Aug;16(8):1357-66

Department of Pediatrics and Medicine, Inflammatory Bowel Disease Program, Medical Genetics Institute, Cedars Sinai Medical Center, Los Angeles, California, USA.

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http://dx.doi.org/10.1002/ibd.21174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2889173PMC
August 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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July 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://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267927PMC
December 2009

Chromosome 17q21 gene variants are associated with asthma and exacerbations but not atopy in early childhood.

Am J Respir Crit Care Med 2009 Feb 21;179(3):179-85. Epub 2008 Nov 21.

Copenhagen Studies on Asthma in Childhood, The Danish Paediatrics Asthma Centre, Faculty of Health Sciences, University of Copenhagen, Gentofte Hospital, Ledreborg Alle 34, DK-2900 Gentofte, Copenhagen, Denmark.

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February 2009

Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy.

Genome Res 2009 Feb 13;19(2):276-83. Epub 2009 Jan 13.

Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, and Abramson Family Cancer Research Institute, Philadelphia, Pennsylvania 19104-4318, USA.

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http://dx.doi.org/10.1101/gr.075671.107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652209PMC
February 2009

Identification of ALK as a major familial neuroblastoma predisposition gene.

Nature 2008 Oct 24;455(7215):930-5. Epub 2008 Aug 24.

Division of Oncology and Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://dx.doi.org/10.1038/nature07261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672043PMC
October 2008

Association analysis of type 2 diabetes Loci in type 1 diabetes.

Diabetes 2008 Jul 21;57(7):1983-6. Epub 2008 Apr 21.

Departments of Pediatrics and Human Genetics, McGill University, Montreal, Québec, Canada.

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http://diabetes.diabetesjournals.org/cgi/doi/10.2337/db08-02
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2453613PMC
July 2008