Cecilia E Kim

Cecilia E Kim

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Cecilia E Kim

Cecilia E Kim

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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 2019 Oct 19;28(10):1118-1121. Epub 2018 Feb 19.

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

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http://doi.wiley.com/10.1111/exd.13501
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http://dx.doi.org/10.1111/exd.13501DOI Listing
October 2019

First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes.

Authors:
Diana L Cousminer Emma Ahlqvist Rajashree Mishra Mette K Andersen Alessandra Chesi Mohammad I Hawa Asa Davis Kenyaita M Hodge Jonathan P Bradfield Kaixin Zhou Vanessa C Guy Mikael Åkerlund Mette Wod Lars G Fritsche Henrik Vestergaard James Snyder Kurt Højlund Allan Linneberg Annemari Käräjämäki Ivan Brandslund Cecilia E Kim Daniel Witte Elin Pettersen Sørgjerd David J Brillon Oluf Pedersen Henning Beck-Nielsen Niels Grarup Richard E Pratley Michael R Rickels Adrian Vella Fernando Ovalle Olle Melander Ronald I Harris Stephen Varvel Valdemar E R Grill Hakon Hakonarson Philippe Froguel John T Lonsdale Didac Mauricio Nanette C Schloot Kamlesh Khunti Carla J Greenbaum Bjørn Olav Åsvold Knud B Yderstræde Ewan R Pearson Stanley Schwartz Benjamin F Voight Torben Hansen Tiinamaija Tuomi Bernhard O Boehm Leif Groop R David Leslie Struan F A Grant

Diabetes Care 2018 11 25;41(11):2396-2403. Epub 2018 Sep 25.

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http://dx.doi.org/10.2337/dc18-1032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6196829PMC
November 2018

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

Authors:
Ray Hu Michael P Morley Jeffrey Brandimarto Nathan R Tucker Victoria A Parsons Sihai D Zhao Benjamin Meder Hugo A Katus Frank Rühle Monika Stoll Eric Villard François Cambien Honghuang Lin Nicholas L Smith Janine F Felix Ramachandran S Vasan Pim van der Harst Christopher Newton-Cheh Jin Li Cecilia E Kim Hakon Hakonarson Sridhar Hannenhalli Euan A Ashley Christine S Moravec W H Wilson Tang Marjorie Maillet Jeffery D Molkentin Patrick T Ellinor Kenneth B Margulies Thomas P Cappola

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

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

Authors:
Dong Li Xiao Chang John J Connolly Lifeng Tian Yichuan Liu Elizabeth J Bhoj Nora Robinson Debra Abrams Yun R Li Jonathan P Bradfield Cecilia E Kim Jin Li Fengxiang Wang James Snyder Maria Lemma Cuiping Hou Zhi Wei Yiran Guo Haijun Qiu Frank D Mentch Kelly A Thomas Rosetta M Chiavacci Roger Cone Bingshan Li Patrick A Sleiman Hakon Hakonarson

Sci Rep 2017 08 21;7(1):8379. Epub 2017 Aug 21.

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

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http://dx.doi.org/10.1038/s41598-017-06409-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5566434PMC
August 2017

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

Authors:
Dong Li Xiao Chang John J Connolly Lifeng Tian Yichuan Liu Elizabeth J Bhoj Nora Robinson Debra Abrams Yun R Li Jonathan P Bradfield Cecilia E Kim Jin Li Fengxiang Wang James Snyder Maria Lemma Cuiping Hou Zhi Wei Yiran Guo Haijun Qiu Frank D Mentch Kelly A Thomas Rosetta M Chiavacci Roger Cone Bingshan Li Patrick A Sleiman Hakon Hakonarson

Sci Rep 2017 06 19;7(1):3847. Epub 2017 Jun 19.

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

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http://dx.doi.org/10.1038/s41598-017-01674-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476671PMC
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.

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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.

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.

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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

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.

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http://dx.doi.org/10.1186/s12894-016-0180-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073740PMC
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.

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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.

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.

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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

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:

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http://dx.doi.org/10.1016/j.jtcvs.2015.09.136DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4801686PMC
April 2016

Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility.

Authors:
Terri H Finkel Jin Li Zhi Wei Wei Wang Haitao Zhang Edward M Behrens Emma L Reuschel Sophie Limou Carol Wise Marilynn Punaro Mara L Becker Jane E Munro Berit Flatø Øystein Førre Susan D Thompson Carl D Langefeld David N Glass Joseph T Glessner Cecilia E Kim Edward Frackelton Debra K Shivers Kelly A Thomas Rosetta M Chiavacci Cuiping Hou Kexiang Xu James Snyder Haijun Qiu Frank Mentch Kai Wang Cheryl A Winkler Benedicte A Lie Justine A Ellis Hakon Hakonarson

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.

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http://dx.doi.org/10.1186/s12881-016-0285-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4804485PMC
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.

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

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http://dx.doi.org/10.1038/ncomms9442DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4633631PMC
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.

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http://dx.doi.org/10.1038/nm.3933DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863040PMC
September 2015

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

Authors:
S Melkorka Maggadottir Jin Li Joseph T Glessner Yun Rose Li Zhi Wei Xiao Chang Frank D Mentch Kelly A Thomas Cecilia E Kim Yan Zhao Cuiping Hou Fengxiang Wang Silje F Jørgensen Elena E Perez Kathleen E Sullivan Jordan S Orange Tom H Karlsen Helen Chapel Charlotte Cunningham-Rundles Hakon Hakonarson

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.

Authors:
Julia S Barthold Yanping Wang Thomas F Kolon Claude Kollin Agneta Nordenskjöld 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 Cecilia E Kim Abigail B Mateson Alan K Robbins Jin Li Robert E Akins Hakon Hakonarson Marcella Devoto

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.

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.

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

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

Authors:
Marni J Falk Dong Li Xiaowu Gai Elizabeth McCormick Emily Place Francesco M Lasorsa Frederick G Otieno Cuiping Hou Cecilia E Kim Nada Abdel-Magid Lyam Vazquez Frank D Mentch Rosetta Chiavacci Jinlong Liang Xuanzhu Liu Hui Jiang Giulia Giannuzzi Eric D Marsh Guo Yiran Lifeng Tian Ferdinando Palmieri Hakon Hakonarson

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,

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http://dx.doi.org/10.1007/8904_2013_287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213337PMC
October 2014

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

Authors:
Marni J Falk Dong Li Xiaowu Gai Elizabeth McCormick Emily Place Francesco M Lasorsa Frederick G Otieno Cuiping Hou Cecilia E Kim Nada Abdel-Magid Lyam Vazquez Frank D Mentch Rosetta Chiavacci Jinlong Liang Xuanzhu Liu Hui Jiang Giulia Giannuzzi Eric D Marsh Yiran Guo Lifeng Tian Ferdinando Palmieri Hakon Hakonarson

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,

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http://dx.doi.org/10.1007/8904_2014_314DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213340PMC
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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053846PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3559729PMC
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.

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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.

Authors:
John A Martignetti Lifeng Tian Dong Li Maria Celeste M Ramirez Olga Camacho-Vanegas Sandra Catalina Camacho Yiran Guo Dina J Zand Audrey M Bernstein Sandra K Masur Cecilia E Kim Frederick G Otieno Cuiping Hou Nada Abdel-Magid Ben Tweddale Denise Metry Jean-Christophe Fournet Eniko Papp Elizabeth W McPherson Carrie Zabel Guy Vaksmann Cyril Morisot Brendan Keating Patrick M Sleiman Jeffrey A Cleveland David B Everman Elaine Zackai Hakon Hakonarson

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

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.

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http://dx.doi.org/10.1002/oby.20147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3605748PMC
January 2013

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

Authors:
Julien Couthouis Michael P Hart Renske Erion Oliver D King Zamia Diaz Tadashi Nakaya Fadia Ibrahim Hyung-Jun Kim Jelena Mojsilovic-Petrovic Saarene Panossian Cecilia E Kim Edward C Frackelton Jennifer A Solski Kelly L Williams Dana Clay-Falcone Lauren Elman Leo McCluskey Robert Greene Hakon Hakonarson Robert G Kalb Virginia M Y Lee John Q Trojanowski Garth A Nicholson Ian P Blair Nancy M Bonini Vivianna M Van Deerlin Zissimos Mourelatos James Shorter Aaron D Gitler

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.

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http://dx.doi.org/10.1093/hmg/dds116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373238PMC
July 2012

Examination of genetic variants influencing lipid traits in pediatric populations.

Authors:
Kai Wang Haitao Zhang Frank D Mentch Jonathan P Bradfield Joseph T Glessner Haijun Qiu Yiran Guo Cuiping Hou Edward C Frackelton Kelly Thomas Amber Bender Anthony Albano George Otieno Maria Garris Kallyn Seidler Alexander Moy Cecilia E Kim Brendan Keating Rosetta M Chiavacci Robert Grundmeier Patrick A Sleiman Struan F A Grant Hakon Hakonarson

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

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

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http://dx.doi.org/10.3233/PGE-2012-016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020926PMC
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.

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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

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.

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http://doi.wiley.com/10.1038/oby.2011.237
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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.

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http://dx.doi.org/10.1038/ng.1013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310555PMC
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.

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http://dx.doi.org/10.1371/journal.pgen.1002293DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183083PMC
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.

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http://dx.doi.org/10.1038/oby.2010.324DOI Listing
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.

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

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0015463PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995745PMC
December 2010

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

Authors:
Joseph T Glessner Jonathan P Bradfield Kai Wang Nagahide Takahashi Haitao Zhang Patrick M Sleiman Frank D Mentch Cecilia E Kim Cuiping Hou Kelly A Thomas Maria L Garris Sandra Deliard Edward C Frackelton F George Otieno Jianhua Zhao Rosetta M Chiavacci Mingyao Li Joseph D Buxbaum Robert I Berkowitz Hakon Hakonarson Struan F A Grant

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.

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http://dx.doi.org/10.1016/j.ajhg.2010.09.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978976PMC
November 2010

Strong synaptic transmission impact by copy number variations in schizophrenia.

Authors:
Joseph T Glessner Muredach P Reilly Cecilia E Kim Nagahide Takahashi Anthony Albano Cuiping Hou Jonathan P Bradfield Haitao Zhang Patrick M A Sleiman James H Flory Marcin Imielinski Edward C Frackelton Rosetta Chiavacci Kelly A Thomas Maria Garris Frederick G Otieno Michael Davidson Mark Weiser Abraham Reichenberg Kenneth L Davis Joseph I Friedman Thomas P Cappola Kenneth B Margulies Daniel J Rader Struan F A Grant Joseph D Buxbaum Raquel E Gur Hakon Hakonarson

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.

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http://www.pnas.org/cgi/doi/10.1073/pnas.1000274107
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http://dx.doi.org/10.1073/pnas.1000274107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2890845PMC
June 2010

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

Authors:
Jianhua Zhao Mingyao Li Jonathan P Bradfield Haitao Zhang Frank D Mentch Kai Wang Patrick M Sleiman Cecilia E Kim Joseph T Glessner Cuiping Hou Brendan J Keating Kelly A Thomas Maria L Garris Sandra Deliard Edward C Frackelton F George Otieno Rosetta M Chiavacci Robert I Berkowitz Hakon Hakonarson Struan F A Grant

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.

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http://dx.doi.org/10.1186/1471-2350-11-96DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2894790PMC
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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0010855PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877111PMC
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.

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http://dx.doi.org/10.2337/db09-0972DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2828649PMC
March 2010

Variants of DENND1B associated with asthma in children.

Authors:
Patrick M A Sleiman James Flory Marcin Imielinski Jonathan P Bradfield Kiran Annaiah Saffron A G Willis-Owen Kai Wang Nicholas M Rafaels Sven Michel Klaus Bonnelykke Haitao Zhang Cecilia E Kim Edward C Frackelton Joseph T Glessner Cuiping Hou F George Otieno Erin Santa Kelly Thomas Ryan M Smith Wendy R Glaberson Maria Garris Rosetta M Chiavacci Terri H Beaty Ingo Ruczinski Jordan S Orange Jordan M Orange Julian Allen Jonathan M Spergel Robert Grundmeier Rasika A Mathias Jason D Christie Erika von Mutius William O C Cookson Michael Kabesch Miriam F Moffatt Michael M Grunstein Kathleen C Barnes Marcella Devoto Mark Magnusson Hongzhe Li Struan F A Grant Hans Bisgaard Hakon Hakonarson

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

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

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http://www.copsac.com/userfiles/Sleiman_2010_N-Engl-J-Med_36
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http://www.nejm.org/doi/abs/10.1056/NEJMoa0901867
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http://dx.doi.org/10.1056/NEJMoa0901867DOI Listing
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.

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http://doi.wiley.com/10.1038/oby.2009.159
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http://dx.doi.org/10.1038/oby.2009.159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860782PMC
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.

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http://dx.doi.org/10.1016/j.jpeds.2009.06.020DOI Listing
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.

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

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http://diabetes.diabetesjournals.org/cgi/doi/10.2337/db09-05
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http://dx.doi.org/10.2337/db09-0506DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2750235PMC
October 2009

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

Authors:
Tamim H Shaikh Xiaowu Gai Juan C Perin Joseph T Glessner Hongbo Xie Kevin Murphy Ryan O'Hara Tracy Casalunovo Laura K Conlin Monica D'Arcy Edward C Frackelton Elizabeth A Geiger Chad Haldeman-Englert Marcin Imielinski Cecilia E Kim Livija Medne Kiran Annaiah Jonathan P Bradfield Elvira Dabaghyan Andrew Eckert Chioma C Onyiah Svetlana Ostapenko F George Otieno Erin Santa Julie L Shaner Robert Skraban Ryan M Smith Josephine Elia Elizabeth Goldmuntz Nancy B Spinner Elaine H Zackai Rosetta M Chiavacci Robert Grundmeier Eric F Rappaport Struan F A Grant Peter S White Hakon Hakonarson

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.

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http://dx.doi.org/10.1101/gr.083501.108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2752118PMC
September 2009

17q12-21 variants interact with smoke exposure as a risk factor for pediatric asthma but are equally associated with early-onset versus late-onset asthma in North Americans of European ancestry.

Authors:
James H Flory Patrick M Sleiman Jason D Christie Kiran Annaiah Jonathan Bradfield Cecilia E Kim Joseph Glessner Marcin Imielinski Hongzhe Li Edward C Frackelton Hou Cuiping George Otieno Kelly Thomas Ryan Smith Wendy Glaberson Maria Garris Rosetta Chiavacci Julian Allen Jonathan Spergel Robert Grundmeier Michael Grunstein Michael Magnusson Struan F A Grant Klaus Bønnelykke Hans Bisgaard Hakon Hakonarson

J Allergy Clin Immunol 2009 Sep 5;124(3):605-7. Epub 2009 Aug 5.

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http://dx.doi.org/10.1016/j.jaci.2009.05.047DOI Listing
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.

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http://dx.doi.org/10.1038/oby.2009.53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2860794PMC
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.

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http://dx.doi.org/10.1038/nature07999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2943511PMC
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.

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http://dx.doi.org/10.1038/nature07953DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2925224PMC
May 2009

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

Authors:
Struan F A Grant Hui-Qi Qu Jonathan P Bradfield Luc Marchand Cecilia E Kim Joseph T Glessner Rosemarie Grabs Shayne P Taback Edward C Frackelton Andrew W Eckert Kiran Annaiah Margaret L Lawson F George Otieno Erin Santa Julie L Shaner Ryan M Smith Robert Skraban Marcin Imielinski Rosetta M Chiavacci Robert W Grundmeier Charles A Stanley Susan E Kirsch Daryl Waggott Andrew D Paterson Dimitri S Monos Constantin Polychronakos Hakon Hakonarson

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.

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http://dx.doi.org/10.2337/db08-1022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2606889PMC
January 2009

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

Authors:
Patrick M A Sleiman Kiran Annaiah Marcin Imielinski Jonathan P Bradfield Cecilia E Kim Edward C Frackelton Joseph T Glessner Andrew W Eckert F George Otieno Erin Santa Kelly Thomas Ryan M Smith Wendy Glaberson Maria Garris Sigfus Gunnlaugsson Rosetta M Chiavacci Julian Allen Jonathan Spergel Robert Grundmeier Michael M Grunstein Mark Magnusson Hans Bisgaard Struan F A Grant Hakon Hakonarson

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

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http://dx.doi.org/10.1016/j.jaci.2008.06.041DOI Listing
December 2008

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

Authors:
Subra Kugathasan Robert N Baldassano Jonathan P Bradfield Patrick M A Sleiman Marcin Imielinski Stephen L Guthery Salvatore Cucchiara Cecilia E Kim Edward C Frackelton Kiran Annaiah Joseph T Glessner Erin Santa Tara Willson Andrew W Eckert Erin Bonkowski Julie L Shaner Ryan M Smith F George Otieno Nicholas Peterson Debra J Abrams Rosetta M Chiavacci Robert Grundmeier Petar Mamula Gitit Tomer David A Piccoli Dimitri S Monos Vito Annese Lee A Denson Struan F A Grant Hakon Hakonarson

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.

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http://dx.doi.org/10.1038/ng.203DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770437PMC
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.

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http://dx.doi.org/10.1002/art.23603DOI Listing
July 2008

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

Authors:
Hakon Hakonarson Hui-Qi Qu Jonathan P Bradfield Luc Marchand Cecilia E Kim Joseph T Glessner Rosemarie Grabs Tracy Casalunovo Shayne P Taback Edward C Frackelton Andrew W Eckert Kiran Annaiah Margaret L Lawson F George Otieno Erin Santa Julie L Shaner Ryan M Smith Chioma C Onyiah Robert Skraban Rosetta M Chiavacci Luke J Robinson Charles A Stanley Susan E Kirsch Marcella Devoto Dimitri S Monos Struan F A Grant Constantin Polychronakos

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.

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http://dx.doi.org/10.2337/db07-1305DOI Listing
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.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0001746PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2262153PMC
March 2008

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

Authors:
Robert N Baldassano Jonathan P Bradfield Dimitri S Monos Cecilia E Kim Joseph T Glessner Tracy Casalunovo Edward C Frackelton F George Otieno Stathis Kanterakis Julie L Shaner Ryan M Smith Andrew W Eckert Luke J Robinson Chioma C Onyiah Debra J Abrams Rosetta M Chiavacci Robert Skraban Marcella Devoto Struan F A Grant Hakon Hakonarson

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.

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http://dx.doi.org/10.1016/j.cgh.2007.04.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4287202PMC
August 2007

Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.

Authors:
Robert N Baldassano Jonathan P Bradfield Dimitri S Monos Cecilia E Kim Joseph T Glessner Tracy Casalunovo Edward C Frackelton F George Otieno Stathis Kanterakis Julie L Shaner Ryan M Smith Andrew W Eckert Luke J Robinson Chioma C Onyiah Debra J Abrams Rosetta M Chiavacci Robert Skraban Marcella Devoto Struan F A Grant Hakon Hakonarson

Gut 2007 Aug;56(8):1171-3

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http://dx.doi.org/10.1136/gut.2007.122747DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1955510PMC
August 2007

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

Authors:
Hakon Hakonarson Struan F A Grant Jonathan P Bradfield Luc Marchand Cecilia E Kim Joseph T Glessner Rosemarie Grabs Tracy Casalunovo Shayne P Taback Edward C Frackelton Margaret L Lawson Luke J Robinson Robert Skraban Yang Lu Rosetta M Chiavacci Charles A Stanley Susan E Kirsch Eric F Rappaport Jordan S Orange Dimitri S Monos Marcella Devoto Hui-Qi Qu Constantin Polychronakos

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.

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http://dx.doi.org/10.1038/nature06010DOI Listing
August 2007