Cecilia E Kim

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Cecilia E Kim

Publications by authors named "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.).

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March 2018

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

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

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

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May 2017

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

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

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

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November 2016

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

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

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

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July 2016

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

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

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

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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.

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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April 2016

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

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

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

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October 2015

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

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

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

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June 2015

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism.

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

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

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May 2015

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

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

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

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January 2015

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

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

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

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June 2013

Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.

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

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

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June 2013

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

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

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

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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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March 2012

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

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

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

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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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January 2011

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

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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December 2010

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

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

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

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

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December 2009