Cecilia E Kim

Cecilia E Kim

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The Children's Hospital of PhiladelphiaUnited States

Publications

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.
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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.
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Association of a rare NOTCH4 coding variant with systemic sclerosis: a family-based whole exome sequencing study.
BMC Musculoskelet Disord 2016 Nov 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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Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism.
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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Pathway-based Genome-wide Association Studies Reveal the Association Between Growth Factor Activity and Inflammatory Bowel Disease.
Inflamm Bowel Dis 2016 Jul;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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Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism.
J Clin Endocrinol Metab 2016 May 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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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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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.
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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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Genetic sharing and heritability of paediatric age of onset autoimmune diseases.
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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Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.
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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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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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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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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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,
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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,
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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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Copy number variations in alternative splicing gene networks impact lifespan.
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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The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.
Obesity (Silver Spring) 2013 Jan;21(1):159-63
Division of Human Genetics, Research Institute, Philadelphia, Pennsylvania, USA.
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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.
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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.
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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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Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
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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Role of BMI-associated loci identified in GWAS meta-analyses in the context of common childhood obesity in European Americans.
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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Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
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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A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.
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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BMD-associated variation at the Osterix locus is correlated with childhood obesity in females.
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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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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Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.
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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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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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.
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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.
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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.
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Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.
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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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.
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The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI.
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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A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24.
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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Common variants at five new loci associated with early-onset inflammatory bowel disease.
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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Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.
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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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.
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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.
J Allergy Clin Immunol 2009 Sep 5;124(3):605-7. Epub 2009 Aug 5.
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Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry.
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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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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Common genetic variants on 5p14.1 associate with autism spectrum disorders.
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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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
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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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.
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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.
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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.
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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.
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Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNP.
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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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.
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Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's disease.
Gut 2007 Aug;56(8):1171-3
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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.
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