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Cecilia E Kim

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58Publications

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

Circ Genom Precis Med 2018 Mar;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.).

March 2018

Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.

Authors:

Hassan Vahidnezhad Leila Youssefian Amir Hossein Saeidian Sirous Zeinali Andrew Touati Maryam Abiri Soheila Sotoudeh Sara Norouz-Zadeh Niloufar Amirinezhad Nikoo Mozafari Maryam Daneshpazhooh Hamidreza Mahmoudi Mohammad Hamid Jonathan P Bradfield Cecilia E Kim Hakon Hakonarson Jouni Uitto

Exp Dermatol 2018 Jan 24. Epub 2018 Jan 24.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.

January 2018

Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Sci Rep 2017 Aug 21;7(1):8379. Epub 2017 Aug 21.

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

August 2017

A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Sci Rep 2017 Jun 19;7(1):3847. Epub 2017 Jun 19.

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

June 2017

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

Authors:

Dong Li Elizabeth A Streeten Alice Chan Wint Lwin Lifeng Tian Renata Pellegrino da Silva Cecilia E Kim Mark S Anderson Hakon Hakonarson Michael A Levine

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

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

May 2017

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

Authors:

Christopher J Cardinale Dong Li Lifeng Tian John J Connolly Michael E March Cuiping Hou Fengxiang Wang James Snyder Cecilia E Kim Rosetta M Chiavacci Patrick M Sleiman Jon M Burnham Hakon Hakonarson

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.

November 2016

Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.

Authors:

Yanping Wang Jin Li Thomas F Kolon Alicia Olivant Fisher T Ernesto Figueroa Ahmad H BaniHani Jennifer A Hagerty Ricardo Gonzalez Paul H Noh Rosetta M Chiavacci Kisha R Harden Debra J Abrams Deborah Stabley Cecilia E Kim Katia Sol-Church Hakon Hakonarson Marcella Devoto Julia Spencer Barthold

BMC Urol 2016 Oct 21;16(1):62. Epub 2016 Oct 21.

Nemours Biomedical Research, Nemours /Alfred I. duPont Hospital for Children, Wilmington, DE, 19803, USA.

October 2016

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

Authors:

Jin Li Zhi Wei Xiao Chang Christopher J Cardinale Cecilia E Kim Robert N Baldassano Hakon Hakonarson

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.

July 2016

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

Authors:

Dong Li Lifeng Tian Cuiping Hou Cecilia E Kim Hakon Hakonarson Michael A Levine

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.

May 2016

Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival.

Authors:

Daniel Seung Kim Jerry H Kim Amber A Burt David R Crosslin Nancy Burnham Cecilia E Kim Donna M McDonald-McGinn Elaine H Zackai Susan C Nicolson Thomas L Spray Ian B Stanaway Deborah A Nickerson Patrick J Heagerty Hakon Hakonarson J William Gaynor Gail P Jarvik

J Thorac Cardiovasc Surg 2016 Apr 10;151(4):1147-51.e4. Epub 2015 Nov 10.

Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Wash; Department of Genome Sciences, University of Washington, Seattle, Wash. Electronic address:

April 2016

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

BMC Med Genet 2016 Mar 22;17:24. Epub 2016 Mar 22.

Department of Pediatrics, University of Pennsylvania School of Medicine, 19104, Philadelphia, PA, USA.

March 2016

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

Authors:

Julia Spencer Barthold Yanping Wang Thomas F Kolon Claude Kollin Agneta Nordenskjöld Alicia Olivant Fisher T Ernesto Figueroa Ahmad H BaniHani Jennifer A Hagerty Ricardo Gonzaléz Paul H Noh Rosetta M Chiavacci Kisha R Harden Debra J Abrams Cecilia E Kim Jin Li Hakon Hakonarson Marcella Devoto

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.

October 2015

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Authors:

Yun R Li Sihai D Zhao Jin Li Jonathan P Bradfield Maede Mohebnasab Laura Steel Julie Kobie Debra J Abrams Frank D Mentch Joseph T Glessner Yiran Guo Zhi Wei John J Connolly Christopher J Cardinale Marina Bakay Dong Li S Melkorka Maggadottir Kelly A Thomas Haijun Qui Rosetta M Chiavacci Cecilia E Kim Fengxiang Wang James Snyder Berit Flatø Øystein Førre Lee A Denson Susan D Thompson Mara L Becker Stephen L Guthery Anna Latiano Elena Perez Elena Resnick Caterina Strisciuglio Annamaria Staiano Erasmo Miele Mark S Silverberg Benedicte A Lie Marilynn Punaro Richard K Russell David C Wilson Marla C Dubinsky Dimitri S Monos Vito Annese Jane E Munro Carol Wise Helen Chapel Charlotte Cunningham-Rundles Jordan S Orange Edward M Behrens Kathleen E Sullivan Subra Kugathasan Anne M Griffiths Jack Satsangi Struan F A Grant Patrick M A Sleiman Terri H Finkel Constantin Polychronakos Robert N Baldassano Eline T Luning Prak Justine A Ellis Hongzhe Li Brendan J Keating Hakon Hakonarson

Nat Commun 2015 Oct 9;6:8442. Epub 2015 Oct 9.

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

October 2015

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Authors:

Yun R Li Jin Li Sihai D Zhao Jonathan P Bradfield Frank D Mentch S Melkorka Maggadottir Cuiping Hou Debra J Abrams Diana Chang Feng Gao Yiran Guo Zhi Wei John J Connolly Christopher J Cardinale Marina Bakay Joseph T Glessner Dong Li Charlly Kao Kelly A Thomas Haijun Qiu Rosetta M Chiavacci Cecilia E Kim Fengxiang Wang James Snyder Marylyn D Richie Berit Flatø Øystein Førre Lee A Denson Susan D Thompson Mara L Becker Stephen L Guthery Anna Latiano Elena Perez Elena Resnick Richard K Russell David C Wilson Mark S Silverberg Vito Annese Benedicte A Lie Marilynn Punaro Marla C Dubinsky Dimitri S Monos Caterina Strisciuglio Annamaria Staiano Erasmo Miele Subra Kugathasan Justine A Ellis Jane E Munro Kathleen E Sullivan Carol A Wise Helen Chapel Charlotte Cunningham-Rundles Struan F A Grant Jordan S Orange Patrick M A Sleiman Edward M Behrens Anne M Griffiths Jack Satsangi Terri H Finkel Alon Keinan Eline T Luning Prak Constantin Polychronakos Robert N Baldassano Hongzhe Li Brendan J Keating Hakon Hakonarson

Nat Med 2015 Sep 24;21(9):1018-27. Epub 2015 Aug 24.

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

September 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:

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.

May 2015

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

Authors:

Laura E Mitchell A J Agopian Angela Bhalla Joseph T Glessner Cecilia E Kim Michael D Swartz Hakon Hakonarson Elizabeth Goldmuntz

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.

January 2015

AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

JIMD Rep 2014 11;14:77-85. Epub 2014 Feb 11.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA, 19104, USA,

October 2014

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

JIMD Rep 2014 29;14:119. Epub 2014 Jun 29.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and The Perelman School of Medicine, Philadelphia, PA, 19104, USA,

October 2014

Copy number variations in alternative splicing gene networks impact lifespan.

Authors:

Joseph T Glessner Albert Vernon Smith Saarene Panossian Cecilia E Kim Nagahide Takahashi Kelly A Thomas Fengxiang Wang Kallyn Seidler Tamara B Harris Lenore J Launer Brendan Keating John Connolly Patrick M A Sleiman Joseph D Buxbaum Struan F A Grant Vilmundur Gudnason Hakon Hakonarson

PLoS One 2013 30;8(1):e53846. Epub 2013 Jan 30.

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

September 2013

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

Authors:

Struan Fa Grant Michelle Petri Jonathan P Bradfield Cecilia E Kim Erin Santa Kiran Annaiah Edward C Frackelton Joseph T Glessner F George Otieno Julie L Shaner Ryan M Smith Andrew W Eckert Rosetta M Chiavacci Marcin Imielinski Kathleen E Sullivan Hakon Hakonarson

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.

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:

June 2013

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Authors:

Sandra Deliard Saarene Panossian Frank D Mentch Cecilia E Kim Cuiping Hou Edward C Frackelton Jonathan P Bradfield Joseph T Glessner Haitao Zhang Kai Wang Patrick M A Sleiman Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Jianhua Zhao Struan F A Grant

Obesity (Silver Spring) 2013 Jan;21(1):159-63

Division of Human Genetics, Research Institute, Philadelphia, Pennsylvania, USA.

January 2013

Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis.

Hum Mol Genet 2012 Jul 27;21(13):2899-911. Epub 2012 Mar 27.

Department of Genetics, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305, USA.

July 2012

Examination of genetic variants influencing lipid traits in pediatric populations.

J Pediatr Genet 2012 Jun;1(2):85-98

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

June 2012

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

Authors:

H Rob Taal Beate St Pourcain Elisabeth Thiering Shikta Das Dennis O Mook-Kanamori Nicole M Warrington Marika Kaakinen Eskil Kreiner-Møller Jonathan P Bradfield Rachel M Freathy Frank Geller Mònica Guxens Diana L Cousminer Marjan Kerkhof Nicholas J Timpson M Arfan Ikram Lawrence J Beilin Klaus Bønnelykke Jessica L Buxton Pimphen Charoen Bo Lund Krogsgaard Chawes Johan Eriksson David M Evans Albert Hofman John P Kemp Cecilia E Kim Norman Klopp Jari Lahti Stephen J Lye George McMahon Frank D Mentch Martina Müller Paul F O'Reilly Inga Prokopenko Fernando Rivadeneira Eric A P Steegers Jordi Sunyer Carla Tiesler Hanieh Yaghootkar Monique M B Breteler Stephanie Debette Myriam Fornage Vilmundur Gudnason Lenore J Launer Aad van der Lugt Thomas H Mosley Sudha Seshadri Albert V Smith Meike W Vernooij Alexandra If Blakemore Rosetta M Chiavacci Bjarke Feenstra Julio Fernandez-Benet Struan F A Grant Anna-Liisa Hartikainen Albert J van der Heijden Carmen Iñiguez Mark Lathrop Wendy L McArdle Anne Mølgaard John P Newnham Lyle J Palmer Aarno Palotie Annneli Pouta Susan M Ring Ulla Sovio Marie Standl Andre G Uitterlinden H-Erich Wichmann Nadja Hawwa Vissing Charles DeCarli Cornelia M van Duijn Mark I McCarthy Gerard H Koppelman Xavier Estivill Andrew T Hattersley Mads Melbye Hans Bisgaard Craig E Pennell Elisabeth Widen Hakon Hakonarson George Davey Smith Joachim Heinrich Marjo-Riitta Jarvelin Vincent W V Jaddoe

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

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

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.

March 2012

Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.

Authors:

Jianhua Zhao Jonathan P Bradfield Haitao Zhang Patrick M Sleiman Cecilia E Kim Joseph T Glessner Sandra Deliard Kelly A Thomas Edward C Frackelton Mingyao Li Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Struan F A Grant

Obesity (Silver Spring) 2011 Dec 21;19(12):2436-9. Epub 2011 Jul 21.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

December 2011

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.

Authors:

Josephine Elia Joseph T Glessner Kai Wang Nagahide Takahashi Corina J Shtir Dexter Hadley Patrick M A Sleiman Haitao Zhang Cecilia E Kim Reid Robison Gholson J Lyon James H Flory Jonathan P Bradfield Marcin Imielinski Cuiping Hou Edward C Frackelton Rosetta M Chiavacci Takeshi Sakurai Cara Rabin Frank A Middleton Kelly A Thomas Maria Garris Frank Mentch Christine M Freitag Hans-Christoph Steinhausen Alexandre A Todorov Andreas Reif Aribert Rothenberger Barbara Franke Eric O Mick Herbert Roeyers Jan Buitelaar Klaus-Peter Lesch Tobias Banaschewski Richard P Ebstein Fernando Mulas Robert D Oades Joseph Sergeant Edmund Sonuga-Barke Tobias J Renner Marcel Romanos Jasmin Romanos Andreas Warnke Susanne Walitza Jobst Meyer Haukur Pálmason Christiane Seitz Sandra K Loo Susan L Smalley Joseph Biederman Lindsey Kent Philip Asherson Richard J L Anney J William Gaynor Philip Shaw Marcella Devoto Peter S White Struan F A Grant Joseph D Buxbaum Judith L Rapoport Nigel M Williams Stanley F Nelson Stephen V Faraone Hakon Hakonarson

Nat Genet 2011 Dec 4;44(1):78-84. Epub 2011 Dec 4.

Department of Psychiatry, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania, USA.

December 2011

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Authors:

Jonathan P Bradfield Hui-Qi Qu Kai Wang Haitao Zhang Patrick M Sleiman Cecilia E Kim Frank D Mentch Haijun Qiu Joseph T Glessner Kelly A Thomas Edward C Frackelton Rosetta M Chiavacci Marcin Imielinski Dimitri S Monos Rahul Pandey Marina Bakay Struan F A Grant Constantin Polychronakos Hakon Hakonarson

PLoS Genet 2011 Sep 29;7(9):e1002293. Epub 2011 Sep 29.

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

September 2011

BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.

Authors:

Jianhua Zhao Jonathan P Bradfield Mingyao Li Haitao Zhang Frank D Mentch Kai Wang Patrick M A Sleiman Cecilia E Kim Joseph T Glessner Edward C Frackelton Rosetta M Chiavacci Robert I Berkowitz Babette S Zemel Hakon Hakonarson Struan F A Grant

Obesity (Silver Spring) 2011 Jun 6;19(6):1311-4. Epub 2011 Jan 6.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

June 2011

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

Authors:

Jordan S Orange Joseph T Glessner Elena Resnick Kathleen E Sullivan Mary Lucas Berne Ferry Cecilia E Kim Cuiping Hou Fengxiang Wang Rosetta Chiavacci Subra Kugathasan John W Sleasman Robert Baldassano Elena E Perez Helen Chapel Charlotte Cunningham-Rundles Hakon Hakonarson

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.

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.

January 2011

Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.

Authors:

Joseph T Glessner Kai Wang Patrick M A Sleiman Haitao Zhang Cecilia E Kim James H Flory Jonathan P Bradfield Marcin Imielinski Edward C Frackelton Haijun Qiu Frank Mentch Struan F A Grant Hakon Hakonarson

PLoS One 2010 Dec 1;5(12):e15463. Epub 2010 Dec 1.

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

December 2010

A genome-wide study reveals copy number variants exclusive to childhood obesity cases.

Am J Hum Genet 2010 Nov 14;87(5):661-6. Epub 2010 Oct 14.

Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, 19104, USA.

November 2010

Strong synaptic transmission impact by copy number variations in schizophrenia.

Proc Natl Acad Sci U S A 2010 Jun 20;107(23):10584-9. Epub 2010 May 20.

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

June 2010

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

BMC Med Genet 2010 Jun 14;11:96. Epub 2010 Jun 14.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

June 2010

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Authors:

Kristen N Stevens Hakon Hakonarson Cecilia E Kim Pieter A Doevendans Bobby P C Koeleman Seema Mital Jennifer Raue Joseph T Glessner John G Coles Victor Moreno Anne Granger Stephen B Gruber Peter J Gruber

PLoS One 2010 May 26;5(5):e10855. Epub 2010 May 26.

Department of Epidemiology, University of Michigan, Ann Arbor, Michigan, USA.

May 2010

Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.

Authors:

Jianhua Zhao Jonathan P Bradfield Haitao Zhang Kiran Annaiah Kai Wang Cecilia E Kim Joseph T Glessner Edward C Frackelton F George Otieno James Doran Kelly A Thomas Maria Garris Cuiping Hou Rosetta M Chiavacci Mingyao Li Robert I Berkowitz Hakon Hakonarson Struan F A Grant

Diabetes 2010 Mar 23;59(3):751-5. Epub 2009 Nov 23.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

March 2010

Variants of DENND1B associated with asthma in children.

N Engl J Med 2010 Jan 23;362(1):36-44. Epub 2009 Dec 23.

Center for Applied Genomics, Philadelphia, PA 19104-4318, USA.

January 2010

The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.

Authors:

Jianhua Zhao Jonathan P Bradfield Mingyao Li Kai Wang Haitao Zhang Cecilia E Kim Kiran Annaiah Joseph T Glessner Kelly Thomas Maria Garris Edward C Frackelton F George Otieno Julie L Shaner Ryan M Smith Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Struan F A Grant

Obesity (Silver Spring) 2009 Dec 28;17(12):2254-7. Epub 2009 May 28.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

December 2009

A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.

Authors:

Struan F A Grant Kai Wang Haitao Zhang Wendy Glaberson Kiran Annaiah Cecilia E Kim Jonathan P Bradfield Joseph T Glessner Kelly A Thomas Maria Garris Edward C Frackelton F George Otieno Rosetta M Chiavacci Hyun-Duck Nah Richard E Kirschner Hakon Hakonarson

J Pediatr 2009 Dec 4;155(6):909-13. Epub 2009 Aug 4.

Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA 19104-4318, USA.

December 2009

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.

December 2009

Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.

Authors:

Jianhua Zhao Mingyao Li Jonathan P Bradfield Kai Wang Haitao Zhang Patrick Sleiman Cecilia E Kim Kiran Annaiah Wendy Glaberson Joseph T Glessner F George Otieno Kelly A Thomas Maria Garris Cuiping Hou Edward C Frackelton Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Struan F A Grant

Diabetes 2009 Oct 10;58(10):2414-8. Epub 2009 Jul 10.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

October 2009

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.

Genome Res 2009 Sep 10;19(9):1682-90. Epub 2009 Jul 10.

Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

September 2009

Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.

Authors:

Struan F A Grant Jonathan P Bradfield Haitao Zhang Kai Wang Cecilia E Kim Kiran Annaiah Erin Santa Joseph T Glessner Kelly Thomas Maria Garris Edward C Frackelton F George Otieno Julie L Shaner Ryan M Smith Marcin Imielinski Rosetta M Chiavacci Mingyao Li Robert I Berkowitz Hakon Hakonarson

Obesity (Silver Spring) 2009 Jul 5;17(7):1461-5. Epub 2009 Mar 5.

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

July 2009

Common genetic variants on 5p14.1 associate with autism spectrum disorders.

Authors:

Kai Wang Haitao Zhang Deqiong Ma Maja Bucan Joseph T Glessner Brett S Abrahams Daria Salyakina Marcin Imielinski Jonathan P Bradfield Patrick M A Sleiman Cecilia E Kim Cuiping Hou Edward Frackelton Rosetta Chiavacci Nagahide Takahashi Takeshi Sakurai Eric Rappaport Clara M Lajonchere Jeffrey Munson Annette Estes Olena Korvatska Joseph Piven Lisa I Sonnenblick Ana I Alvarez Retuerto Edward I Herman Hongmei Dong Ted Hutman Marian Sigman Sally Ozonoff Ami Klin Thomas Owley John A Sweeney Camille W Brune Rita M Cantor Raphael Bernier John R Gilbert Michael L Cuccaro William M McMahon Judith Miller Matthew W State Thomas H Wassink Hilary Coon Susan E Levy Robert T Schultz John I Nurnberger Jonathan L Haines James S Sutcliffe Edwin H Cook Nancy J Minshew Joseph D Buxbaum Geraldine Dawson Struan F A Grant Daniel H Geschwind Margaret A Pericak-Vance Gerard D Schellenberg Hakon Hakonarson

Nature 2009 May 28;459(7246):528-33. Epub 2009 Apr 28.

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

May 2009

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.

Authors:

Joseph T Glessner Kai Wang Guiqing Cai Olena Korvatska Cecilia E Kim Shawn Wood Haitao Zhang Annette Estes Camille W Brune Jonathan P Bradfield Marcin Imielinski Edward C Frackelton Jennifer Reichert Emily L Crawford Jeffrey Munson Patrick M A Sleiman Rosetta Chiavacci Kiran Annaiah Kelly Thomas Cuiping Hou Wendy Glaberson James Flory Frederick Otieno Maria Garris Latha Soorya Lambertus Klei Joseph Piven Kacie J Meyer Evdokia Anagnostou Takeshi Sakurai Rachel M Game Danielle S Rudd Danielle Zurawiecki Christopher J McDougle Lea K Davis Judith Miller David J Posey Shana Michaels Alexander Kolevzon Jeremy M Silverman Raphael Bernier Susan E Levy Robert T Schultz Geraldine Dawson Thomas Owley William M McMahon Thomas H Wassink John A Sweeney John I Nurnberger Hilary Coon James S Sutcliffe Nancy J Minshew Struan F A Grant Maja Bucan Edwin H Cook Joseph D Buxbaum Bernie Devlin Gerard D Schellenberg Hakon Hakonarson

Nature 2009 May 28;459(7246):569-73. Epub 2009 Apr 28.

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

May 2009

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.

Diabetes 2009 Jan 7;58(1):290-5. Epub 2008 Oct 7.

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

January 2009

ORMDL3 variants associated with asthma susceptibility in North Americans of European ancestry.

J Allergy Clin Immunol 2008 Dec 28;122(6):1225-7. Epub 2008 Aug 28.

December 2008

Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.

Nat Genet 2008 Oct 31;40(10):1211-5. Epub 2008 Aug 31.

Department of Pediatrics, Children's Research Institute and Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA.

October 2008

Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis.

Authors:

Edward M Behrens Terri H Finkel Jonathan P Bradfield Cecilia E Kim LaKenya Linton Tracy Casalunovo Edward C Frackelton Erin Santa F George Otieno Joseph T Glessner Rosetta M Chiavacci Struan F A Grant Hakon Hakonarson

Arthritis Rheum 2008 Jul;58(7):2206-7

The Children's Hospital of Philadelphia, Philadelphia, PA, USA.

July 2008

A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study.

Diabetes 2008 Apr 15;57(4):1143-6. Epub 2008 Jan 15.

Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, PA 19104-4318, USA.

April 2008

Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.

Authors:

Struan F A Grant Mingyao Li Jonathan P Bradfield Cecilia E Kim Kiran Annaiah Erin Santa Joseph T Glessner Tracy Casalunovo Edward C Frackelton F George Otieno Julie L Shaner Ryan M Smith Marcin Imielinski Andrew W Eckert Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson

PLoS One 2008 Mar 12;3(3):e1746. Epub 2008 Mar 12.

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

March 2008

Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's disease.

Clin Gastroenterol Hepatol 2007 Aug 6;5(8):972-6. Epub 2007 Jul 6.

Division of Gastroenterology and Nutrition, Abramson Research Center, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania, USA.

August 2007

A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene.

Nature 2007 Aug 15;448(7153):591-4. Epub 2007 Jul 15.

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

August 2007