C
Cecilia E. Kim
Researcher at Children's Hospital of Philadelphia
Publications - 60
Citations - 8588
Cecilia E. Kim is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: Genome-wide association study & Single-nucleotide polymorphism. The author has an hindex of 39, co-authored 60 publications receiving 8016 citations. Previous affiliations of Cecilia E. Kim include University of Pennsylvania.
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Journal ArticleDOI
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
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 M. Chiavacci,Kiran Annaiah,Kelly A. Thomas,Cuiping Hou,Wendy Glaberson,James H. Flory,Frederick G. 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 M. 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 +58 more
TL;DR: Several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGN1 and ASTN2, were enriched with CNVs in ASD cases compared to controls, and duplications 55 kilobases upstream of complementary DNA AK123120 indicate that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD.
Journal ArticleDOI
Common genetic variants on 5p14.1 associate with autism spectrum disorders
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 C. Frackelton,Rosetta M. Chiavacci,Nagahide Takahashi,Takeshi Sakurai,Eric F. Rappaport,Clara 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 J 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 +55 more
TL;DR: The results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to the authors' knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs.
Journal ArticleDOI
Common variants at five new loci associated with early-onset inflammatory bowel disease.
Marcin Imielinski,Robert N. Baldassano,Anne M. Griffiths,Richard K Russell,Vito Annese,Marla Dubinsky,Subra Kugathasan,Jonathan P. Bradfield,Thomas D. Walters,Patrick M. A. Sleiman,Cecilia E. Kim,Aleixo M. Muise,Kai Wang,Joseph T. Glessner,Shehzad Ahmed Saeed,Haitao Zhang,Edward C. Frackelton,Cuiping Hou,James H. Flory,George Otieno,Rosetta M. Chiavacci,Robert W. Grundmeier,Massimo Castro,Anna Latiano,Bruno Dallapiccola,Joanne M. Stempak,Debra J. Abrams,Kent D. Taylor,Dermot P.B. McGovern,Melvin B. Heyman,George D. Ferry,Barbara S. Kirschner,Jessica T. Lee,Jonah Essers,Richard J. Grand,Michael C. Stephens,Arie Levine,David A. Piccoli,Johan Van Limbergen,Salvatore Cucchiara,Dimitri S. Monos,Stephen L. Guthery,Lee A. Denson,David C. Wilson,Struan F.A. Grant,Mark J. Daly,Mark S. Silverberg,Jack Satsangi,Hakon Hakonarson +48 more
TL;DR: The results of a genome-wide association study in early-onset IBD involving 3,426 affected individuals and 11,963 genetically matched controls recruited through international collaborations in Europe and North America are reported, thereby extending the results from a previous study of 1,011 individuals with early-onset IBD.
Journal ArticleDOI
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
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 R. Haldeman-Englert,Marcin Imielinski,Cecilia E. Kim,Livija Medne,Kiran Annaiah,Jonathan P. Bradfield,Elvira Dabaghyan,Andrew W. 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 W. Grundmeier,Eric F. Rappaport,Struan F.A. Grant,Peter White,Hakon Hakonarson +36 more
TL;DR: A database of copy number variations detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays, is presented, demonstrating the utility of this data set in distinguishing CNVs with pathologic significance from normal variants.
Journal ArticleDOI
Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder
Josephine Elia,Joseph T. Glessner,Kai Wang,Nagahide Takahashi,Corina Shtir,Dexter Hadley,Patrick M. A. Sleiman,Haitao Zhang,Cecilia E. Kim,Reid J. Robison,Gholson J. Lyon,James H. Flory,Jonathan P. Bradfield,Marcin Imielinski,Cuiping Hou,Edward C. Frackelton,Rosetta M. Chiavacci,Takeshi Sakurai,Cara R. Rabin,Frank A. Middleton,Kelly A. Thomas,Maria Garris,Frank D. Mentch,Christine M. Freitag,Hans-Christoph Steinhausen,Hans-Christoph Steinhausen,Hans-Christoph Steinhausen,Alexandre A. Todorov,Andreas Reif,Aribert Rothenberger,Barbara Franke,Eric Mick,Herbert Roeyers,Jan K. Buitelaar,Klaus-Peter Lesch,Tobias Banaschewski,Richard P. Ebstein,Fernando Mulas,Robert D. Oades,Joseph A. Sergeant,Edmund J.S. Sonuga-Barke,Edmund J.S. Sonuga-Barke,Edmund J.S. Sonuga-Barke,Tobias J. Renner,Marcel Romanos,Jasmin Romanos,Andreas Warnke,Susanne Walitza,Susanne Walitza,Jobst Meyer,Haukur Palmason,Christiane Seitz,Sandra K. Loo,Susan L. Smalley,Joseph Biederman,Lindsey Kent,Philip Asherson,Richard Anney,J. William Gaynor,Philip Shaw,Marcella Devoto,Peter White,Struan F.A. Grant,Struan F.A. Grant,Joseph D. Buxbaum,Judith L. Rapoport,Nigel Williams,Stanley F. Nelson,Stephen V. Faraone,Hakon Hakonarson +69 more
TL;DR: A gene network analysis showed that genes interacting with the genes in the GRM family are enriched for CNVs in ∼10% of the cases, and rare recurrent CNVs affecting glutamatergic neurotransmission genes that were overrepresented in multiple ADHD cohorts were identified.