529 results on '"Kim, Cecilia"'
Search Results
2. Institutional-specific smartphone application as a supplemental tool for an antimicrobial stewardship program in 2 large community-based hospitals: Acceptance of physicians and pharmacists
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Cho, Sora, Kim, Cecilia, Kim, Sung Hwa, Choi, Hee Jung, Kim, Sun Ah, Kim, Kyung Hee, Kim, Choong-jong, and Rhie, Sandy Jeong
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- 2023
- Full Text
- View/download PDF
3. Information Needs of Patients Diagnosed with Head and Neck Cancer Undergoing Radiation Therapy: a Survey of Patient Satisfaction
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Kim, Cecilia, Dillon, Ruth, Nica, Luminita, Berthelet, Eric, Keyes, Mira, and Hamilton, Sarah Nicole
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- 2021
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4. Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk.
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Chang, Xiao, Zhao, Yan, Hou, Cuiping, Glessner, Joseph, McDaniel, Lee, Diamond, Maura A, Thomas, Kelly, Li, Jin, Wei, Zhi, Liu, Yichuan, Guo, Yiran, Mentch, Frank D, Qiu, Haijun, Kim, Cecilia, Evans, Perry, Vaksman, Zalman, Diskin, Sharon J, Attiyeh, Edward F, Sleiman, Patrick, Maris, John M, and Hakonarson, Hakon
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Cell Line ,Tumor ,Chromosomes ,Human ,Pair 1 ,Chromosomes ,Human ,Pair 11 ,Humans ,Neuroblastoma ,Chromosome Deletion ,Case-Control Studies ,Quantitative Trait Loci ,Matrix Metalloproteinase 20 ,Genome-Wide Association Study ,Whole Exome Sequencing ,Cell Line ,Tumor ,Chromosomes ,Human ,Pair 1 ,Pair 11 - Abstract
MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls. The association is replicated in 44 independent cases and 1902 controls. Our study yields novel insights into the genetic underpinnings of neuroblastoma, demonstrating that the inherited common variants reported contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma.Chromosomal abnormalities such as 11q deletion are associated with poor prognosis in neuroblastoma. Here, the authors perform a genome-wide association study and identify an association between a variant within a Matrix metalloproteinase (MMP) gene member, MMP20, and 11q-deletion subtype neuroblastoma.
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- 2017
5. Vaginal lactobacilli produce anti-inflammatory beta-carboline compounds.
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Webber, Cecilia A, primary, Glick, Virginia J, additional, Martin, Morgan, additional, Kim, Cecilia, additional, Ahmad, Maryam, additional, Simmons, Lauren E, additional, Bang, Sunghee, additional, Chao, Michael C, additional, Howard, Nicole C, additional, Fortune, Sarah M, additional, Beura, Lalit K, additional, Lee, Seo Yoon, additional, Clardy, Jon, additional, Kim, Ki Hyun, additional, and Gopinath, Smita, additional
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- 2024
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6. Iron overload-induced oxidative stress in myelodysplastic syndromes and its cellular sequelae
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Kim, Cecilia H. and Leitch, Heather A.
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- 2021
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7. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
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Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon
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Biological Sciences ,Mathematical Sciences ,Genetics ,Eating Disorders Working Group of the Psychiatric Genomics Consortium ,Price Foundation Collaborative Group - Abstract
A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.
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- 2017
8. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.
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Li, Dong, Chang, Xiao, Connolly, John J, Tian, Lifeng, Liu, Yichuan, Bhoj, Elizabeth J, Robinson, Nora, Abrams, Debra, Li, Yun R, Bradfield, Jonathan P, Kim, Cecilia E, Li, Jin, Wang, Fengxiang, Snyder, James, Lemma, Maria, Hou, Cuiping, Wei, Zhi, Guo, Yiran, Qiu, Haijun, Mentch, Frank D, Thomas, Kelly A, Chiavacci, Rosetta M, Cone, Roger, Li, Bingshan, Sleiman, Patrick A, Eating Disorders Working Group of the Psychiatric Genomics Consortium, Price Foundation Collaborative Group, and Hakonarson, Hakon
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Eating Disorders Working Group of the Psychiatric Genomics Consortium ,Price Foundation Collaborative Group - Abstract
We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.
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- 2017
9. Examining Radiation Treatment Appointment Times at a Canadian Cancer Centre: A Timing Study
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Stewart, Evan, Sun, Ian, Kim, Cecilia, Giddings, Alison, Silverio, Francis, Taruc, Olivia, and Nica, Luminita
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- 2019
- Full Text
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10. The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.
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Hadley, Dexter, Wu, Zhi-Liang, Kao, Charlly, Kini, Akshata, Mohamed-Hadley, Alisha, Thomas, Kelly, Vazquez, Lyam, Qiu, Haijun, Mentch, Frank, Pellegrino, Renata, Kim, Cecilia, Connolly, John, AGP Consortium, Glessner, Joseph, and Hakonarson, Hakon
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AGP Consortium ,Humans ,Calmodulin ,Proto-Oncogene Proteins c-myc ,Receptors ,Metabotropic Glutamate ,Autistic Disorder ,Child ,Child ,Preschool ,Female ,Male ,Basic Helix-Loop-Helix Leucine Zipper Transcription Factors ,Gene Regulatory Networks ,DNA Copy Number Variations ,Receptors ,Metabotropic Glutamate ,Preschool - Abstract
Although multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P ≤ 2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P ≤ 3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P ≤ 4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions.
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- 2014
11. Individual common variants exert weak effects on the risk for autism spectrum disorders
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Anney, Richard, Klei, Lambertus, Pinto, Dalila, Almeida, Joana, Bacchelli, Elena, Baird, Gillian, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Casey, Jillian, Conroy, Judith, Correia, Catarina, Corsello, Christina, Crawford, Emily L, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Andrew, Green, Jonathan, Guter, Stephen J, Heron, Elizabeth A, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Jacob, Suma, Kenny, Graham P, Kim, Cecilia, Kolevzon, Alexander, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Law-Smith, Miriam, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Liu, Xiao-Qing, Lombard, Frances, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Magalhaes, Tiago R, Mantoulan, Carine, McDougle, Christopher J, Melhem, Nadine M, Merikangas, Alison, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Noakes, Carolyn, Nygren, Gudrun, Papanikolaou, Katerina, Pagnamenta, Alistair T, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Posey, David J, Poustka, Fritz, Ragoussis, Jiannis, Regan, Regina, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L, Schlitt, Sabine, Shah, Naisha, Sheffield, Val C, Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Sykes, Nuala, Tancredi, Raffaella, Thompson, Ann P, Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, JAS, Wallace, Simon, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Zurawiecki, Danielle, Zwaigenbaum, Lonnie, and Bailey, Anthony J
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Behavioral and Social Science ,Clinical Research ,Human Genome ,Mental Health ,Genetics ,Brain Disorders ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Autism ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Alleles ,Child ,Child Development Disorders ,Pervasive ,Female ,Gene Frequency ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Humans ,Language Development ,Male ,Membrane Proteins ,Nerve Tissue Proteins ,Polymorphism ,Single Nucleotide ,Risk Factors ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm< 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
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- 2012
12. A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder
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Casey, Jillian P, Magalhaes, Tiago, Conroy, Judith M, Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C, Abrahams, Brett S, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Foley, Suzanne, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Lamb, Janine A, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lord, Catherine, Lund, Sabata C, Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L, Sequeira, Ana F, Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P, Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B, Volkmar, Fred, Vorstman, Jacob AS, Wallace, Simon, Wang, Kai, Wassink, Thomas H, White, Kathy, and Wing, Kirsty
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Autism ,Genetics ,Mental Health ,Intellectual and Developmental Disabilities (IDD) ,Brain Disorders ,Biotechnology ,Pediatric ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Mental health ,Adult ,Child ,Child Development Disorders ,Pervasive ,Cluster Analysis ,Cohort Studies ,DNA Copy Number Variations ,Female ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,Haplotypes ,Homozygote ,Humans ,Linkage Disequilibrium ,Male ,Middle Aged ,Nuclear Family ,Polymorphism ,Single Nucleotide ,Complementary and Alternative Medicine ,Paediatrics and Reproductive Medicine ,Genetics & Heredity - Abstract
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (~90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
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- 2012
13. Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height
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Lanktree, Matthew B, Guo, Yiran, Murtaza, Muhammed, Glessner, Joseph T, Bailey, Swneke D, Onland-Moret, N Charlotte, Lettre, Guillaume, Ongen, Halit, Rajagopalan, Ramakrishnan, Johnson, Toby, Shen, Haiqing, Nelson, Christopher P, Klopp, Norman, Baumert, Jens, Padmanabhan, Sandosh, Pankratz, Nathan, Pankow, James S, Shah, Sonia, Taylor, Kira, Barnard, John, Peters, Bas J, Maloney, Cliona M, Lobmeyer, Maximilian T, Stanton, Alice, Zafarmand, M Hadi, Romaine, Simon PR, Mehta, Amar, van Iperen, Erik PA, Gong, Yan, Price, Tom S, Smith, Erin N, Kim, Cecilia E, Li, Yun R, Asselbergs, Folkert W, Atwood, Larry D, Bailey, Kristian M, Bhatt, Deepak, Bauer, Florianne, Behr, Elijah R, Bhangale, Tushar, Boer, Jolanda MA, Boehm, Bernhard O, Bradfield, Jonathan P, Brown, Morris, Braund, Peter S, Burton, Paul R, Carty, Cara, Chandrupatla, Hareesh R, Chen, Wei, Connell, John, Dalgeorgou, Chrysoula, de Boer, Anthonius, Drenos, Fotios, Elbers, Clara C, Fang, James C, Fox, Caroline S, Frackelton, Edward C, Fuchs, Barry, Furlong, Clement E, Gibson, Quince, Gieger, Christian, Goel, Anuj, Grobbee, Diederik E, Hastie, Claire, Howard, Philip J, Huang, Guan-Hua, Johnson, W Craig, Li, Qing, Kleber, Marcus E, Klein, Barbara EK, Klein, Ronald, Kooperberg, Charles, Ky, Bonnie, LaCroix, Andrea, Lanken, Paul, Lathrop, Mark, Li, Mingyao, Marshall, Vanessa, Melander, Olle, Mentch, Frank D, Meyer, Nuala J, Monda, Keri L, Montpetit, Alexandre, Murugesan, Gurunathan, Nakayama, Karen, Nondahl, Dave, Onipinla, Abiodun, Rafelt, Suzanne, Newhouse, Stephen J, Otieno, F George, Patel, Sanjey R, Putt, Mary E, Rodriguez, Santiago, Safa, Radwan N, Sawyer, Douglas B, Schreiner, Pamela J, Simpson, Claire, Sivapalaratnam, Suthesh, Srinivasan, Sathanur R, and Suver, Christine
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Epidemiology ,Biological Sciences ,Health Sciences ,Genetics ,Human Genome ,2.1 Biological and endogenous factors ,Aetiology ,Adult ,Black or African American ,Asian People ,Body Height ,Cardiovascular System ,Female ,Gene Frequency ,Genetic Heterogeneity ,Genetic Loci ,Genome-Wide Association Study ,Hispanic or Latino ,Humans ,Interleukin-11 ,Male ,Polymorphism ,Single Nucleotide ,Smad3 Protein ,White People ,Hugh Watkins on behalf of PROCARDIS ,Meena Kumari on behalf of the Whitehall II Study and the WHII 50K Group ,Medical and Health Sciences ,Genetics & Heredity ,Biological sciences ,Biomedical and clinical sciences ,Health sciences - Abstract
Height is a classic complex trait with common variants in a growing list of genes known to contribute to the phenotype. Using a genecentric genotyping array targeted toward cardiovascular-related loci, comprising 49,320 SNPs across approximately 2000 loci, we evaluated the association of common and uncommon SNPs with adult height in 114,223 individuals from 47 studies and six ethnicities. A total of 64 loci contained a SNP associated with height at array-wide significance (p < 2.4 × 10(-6)), with 42 loci surpassing the conventional genome-wide significance threshold (p < 5 × 10(-8)). Common variants with minor allele frequencies greater than 5% were observed to be associated with height in 37 previously reported loci. In individuals of European ancestry, uncommon SNPs in IL11 and SMAD3, which would not be genotyped with the use of standard genome-wide genotyping arrays, were strongly associated with height (p < 3 × 10(-11)). Conditional analysis within associated regions revealed five additional variants associated with height independent of lead SNPs within the locus, suggesting allelic heterogeneity. Although underpowered to replicate findings from individuals of European ancestry, the direction of effect of associated variants was largely consistent in African American, South Asian, and Hispanic populations. Overall, we show that dense coverage of genes for uncommon SNPs, coupled with large-scale meta-analysis, can successfully identify additional variants associated with a common complex trait.
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- 2011
14. A genome-wide scan for common alleles affecting risk for autism
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Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R, Correia, Catarina, Abrahams, Brett S, Sykes, Nuala, Pagnamenta, Alistair T, Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J, Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F, Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R, Casallo, Guillermo, Casey, Jillian, Chu, Su H, Cochrane, Lynne, Corsello, Christina, Crawford, Emily L, Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A, Folstein, Susan E, Fombonne, Eric, Freitag, Christine M, Gilbert, John, Gillberg, Christopher, Glessner, Joseph T, Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J, Hakonarson, Hakon, Heron, Elizabeth A, Hill, Matthew, Holt, Richard, Howe, Jennifer L, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M, Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M, Lamb, Janine A, Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L, Lionel, Anath C, Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C, Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R, McConachie, Helen, McDougle, Christopher J, McGrath, Jane, McMahon, William M, Melhem, Nadine M, Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J, Mirza, Ghazala K, Munson, Jeff, Nelson, Stanley F, Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R, Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, and Poustka, Fritz
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Clinical Research ,Human Genome ,Mental Health ,Genetics ,Brain Disorders ,Pediatric ,Biotechnology ,Intellectual and Developmental Disabilities (IDD) ,Autism ,Prevention ,Aetiology ,2.1 Biological and endogenous factors ,Alleles ,Autistic Disorder ,DNA Copy Number Variations ,Databases ,Genetic ,Genetic Predisposition to Disease ,Genetic Variation ,Genome ,Human ,Genome-Wide Association Study ,Genotype ,Humans ,Polymorphism ,Single Nucleotide ,Risk Factors ,White People ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphisms (SNPs) and analyzed these SNP genotypes for association with ASD. In one of four primary association analyses, the association signal for marker rs4141463, located within MACROD2, crossed the genome-wide association significance threshold of P < 5 × 10(-8). When a smaller replication sample was analyzed, the risk allele at rs4141463 was again over-transmitted; yet, consistent with the winner's curse, its effect size in the replication sample was much smaller; and, for the combined samples, the association signal barely fell below the P < 5 × 10(-8) threshold. Exploratory analyses of phenotypic subtypes yielded no significant associations after correction for multiple testing. They did, however, yield strong signals within several genes, KIAA0564, PLD5, POU6F2, ST8SIA2 and TAF1C.
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- 2010
15. Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
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Bucan, Maja, Abrahams, Brett S, Wang, Kai, Glessner, Joseph T, Herman, Edward I, Sonnenblick, Lisa I, Alvarez Retuerto, Ana I, Imielinski, Marcin, Hadley, Dexter, Bradfield, Jonathan P, Kim, Cecilia, Gidaya, Nicole B, Lindquist, Ingrid, Hutman, Ted, Sigman, Marian, Kustanovich, Vlad, Lajonchere, Clara M, Singleton, Andrew, Kim, Junhyong, Wassink, Thomas H, McMahon, William M, Owley, Thomas, Sweeney, John A, Coon, Hilary, Nurnberger, John I, Li, Mingyao, Cantor, Rita M, Minshew, Nancy J, Sutcliffe, James S, Cook, Edwin H, Dawson, Geraldine, Buxbaum, Joseph D, Grant, Struan FA, Schellenberg, Gerard D, Geschwind, Daniel H, and Hakonarson, Hakon
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Humans ,Genetic Predisposition to Disease ,Ubiquitin-Protein Ligases ,Cell Adhesion Molecules ,Neuronal ,Nerve Tissue Proteins ,Case-Control Studies ,Cohort Studies ,Pedigree ,Autistic Disorder ,Gene Duplication ,Sequence Deletion ,Gene Dosage ,Exons ,Adolescent ,Child ,Child ,Preschool ,Female ,Male ,Genome-Wide Association Study ,Young Adult ,Cell Adhesion Molecules ,Neuronal ,Preschool ,Genetics ,Developmental Biology - Abstract
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases, but has lacked the resolution necessary to move beyond detection of large regions of potential interest to identification of individual genes. To pinpoint genes likely to contribute to ASD etiology, we performed high density genotyping in 912 multiplex families from the Autism Genetics Resource Exchange (AGRE) collection and contrasted results to those obtained for 1,488 healthy controls. Through prioritization of exonic deletions (eDels), exonic duplications (eDups), and whole gene duplication events (gDups), we identified more than 150 loci harboring rare variants in multiple unrelated probands, but no controls. Importantly, 27 of these were confirmed on examination of an independent replication cohort comprised of 859 cases and an additional 1,051 controls. Rare variants at known loci, including exonic deletions at NRXN1 and whole gene duplications encompassing UBE3A and several other genes in the 15q11-q13 region, were observed in the course of these analyses. Strong support was likewise observed for previously unreported genes such as BZRAP1, an adaptor molecule known to regulate synaptic transmission, with eDels or eDups observed in twelve unrelated cases but no controls (p = 2.3x10(-5)). Less is known about MDGA2, likewise observed to be case-specific (p = 1.3x10(-4)). But, it is notable that the encoded protein shows an unexpectedly high similarity to Contactin 4 (BLAST E-value = 3x10(-39)), which has also been linked to disease. That hundreds of distinct rare variants were each seen only once further highlights complexity in the ASDs and points to the continued need for larger cohorts.
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- 2009
16. Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations
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Li, Yun Rose, Glessner, Joseph T., Coe, Bradley P., Li, Jin, Mohebnasab, Maede, Chang, Xiao, Connolly, John, Kao, Charlly, Wei, Zhi, Bradfield, Jonathan, Kim, Cecilia, Hou, Cuiping, Khan, Munir, Mentch, Frank, Qiu, Haijun, Bakay, Marina, Cardinale, Christopher, Lemma, Maria, Abrams, Debra, Bridglall-Jhingoor, Andrew, Behr, Meckenzie, Harrison, Shanell, Otieno, George, Thomas, Alexandria, Wang, Fengxiang, Chiavacci, Rosetta, Wu, Lawrence, Hadley, Dexter, Goldmuntz, Elizabeth, Elia, Josephine, Maris, John, Grundmeier, Robert, Devoto, Marcella, Keating, Brendan, March, Michael, Pellagrino, Renata, Grant, Struan F. A., Sleiman, Patrick M. A., Li, Mingyao, Eichler, Evan E., and Hakonarson, Hakon
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- 2020
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17. Institutional specific smartphone application as a supplemental tool for an antimicrobial stewardship program in two large community hospitals: acceptance of physicians and pharmacists
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Cho, Sora, primary, Kim, Cecilia, additional, Kim, Sung Hwa, additional, Choi, Hee Jung, additional, Kim, Sun Ah, additional, Kim, Kyung Hee, additional, Kim, Choong-jong, additional, and Rhie, Sandy Jeong, additional
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- 2023
- Full Text
- View/download PDF
18. Burden of potentially pathologic copy number variants is higher in children with isolated congenital heart disease and significantly impairs covariate-adjusted transplant-free survival
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Kim, Daniel Seung, Kim, Jerry H., Burt, Amber A., Crosslin, David R., Burnham, Nancy, Kim, Cecilia E., McDonald-McGinn, Donna M., Zackai, Elaine H., Nicolson, Susan C., Spray, Thomas L., Stanaway, Ian B., Nickerson, Deborah A., Heagerty, Patrick J., Hakonarson, Hakon, Gaynor, J. William, and Jarvik, Gail P.
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- 2016
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19. AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
- Author
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Falk, Marni J., Li, Dong, Gai, Xiaowu, McCormick, Elizabeth, Place, Emily, Lasorsa, Francesco M., Otieno, Frederick G., Hou, Cuiping, Kim, Cecilia E., Abdel-Magid, Nada, Vazquez, Lyam, Mentch, Frank D., Chiavacci, Rosetta, Liang, Jinlong, Liu, Xuanzhu, Jiang, Hui, Giannuzzi, Giulia, Marsh, Eric D., Yiran, Guo, Tian, Lifeng, Palmieri, Ferdinando, Hakonarson, Hakon, Zschocke, Johannes, Editor-in-chief, Gibson, K Michael, Editor-in-chief, Gibson, K. Michael, editor, Brown, Garry, editor, Morava, Eva, editor, and Peters, Verena, editor
- Published
- 2014
- Full Text
- View/download PDF
20. Rare variants at 16p11.2 are associated with common variable immunodeficiency
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Maggadottir, S. Melkorka, Li, Jin, Glessner, Joseph T., Li, Yun Rose, Wei, Zhi, Chang, Xiao, Mentch, Frank D., Thomas, Kelly A., Kim, Cecilia E., Zhao, Yan, Hou, Cuiping, Wang, Fengxiang, Jørgensen, Silje F., Perez, Elena E., Sullivan, Kathleen E., Orange, Jordan S., Karlsen, Tom H., Chapel, Helen, Cunningham-Rundles, Charlotte, and Hakonarson, Hakon
- Published
- 2015
- Full Text
- View/download PDF
21. Phenotype Specific Association of the TGFBR3 Locus with Nonsyndromic Cryptorchidism
- Author
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Barthold, Julia S., Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzalez, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Mateson, Abigail B., Robbins, Alan K., Li, Jin, Akins, Robert E., Jr., Hakonarson, Hakon, and Devoto, Marcella
- Published
- 2015
- Full Text
- View/download PDF
22. New regulations for promoting Good City Form? Insights from the process and product of form-based code adoption
- Author
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Kim, Cecilia Joung Un
- Subjects
Urban planning ,Public policy ,Political science ,form-based code ,good city form ,growth machine ,urban politics ,zoning reform - Abstract
The main purpose of this dissertation is to assess the effectiveness of form-based codes in contributing to good urban form. Cities are increasingly adopting form-based codes as an alternative to conventional zoning to guide future development, however there is yet not a comprehensive evaluation of its effectiveness in doing so. Moreover, there is little empirical evidence that form-based codes are being adopted for the public good. I use a two-pronged approach to examine the planning process involved in developing form-based codes and the product of this process, the adopted codes, within the theoretical frameworks of the theory of good city form (Lynch, 1984) and the theory of the city as a growth machine (Logan & Molotch, 2007). I use mixed methods to examine multiple case studies for the extent to which form-based codes integrate principles of good city form, and for evidence of the influence of the growth machine in the planning process of form-based codes. Through analysis of planning documents, interviews, and other media sources, the findings reveal that form-based codes do not necessarily promote principles of good city form to a greater extent than conventional zoning regulations and that the growth machine does appear to compromise the potential of form-based codes in contributing to good city form. Thus, form-based codes can effectively address certain issues but are not in themselves a panacea. In the context of zoning reform efforts and policies addressing contemporary urban issues at various government levels, the adoption of form-based codes is essentially an institutional response to the contemporary problems of urban development that does not go far enough in contributing more positively to facilitate good city form. Thus, the adoption of new development regulations such as form-based codes can be seen as a missed opportunity to adopt regulations that mitigate the effects of existing conventional zoning and contribute to an urban form that meets the needs and desires of the community and society at large. This research cautions policymakers and planners contemplating the adoption of form-based codes of the potential ineffectiveness of form-based regulations in achieving certain objectives for their community.
- Published
- 2018
23. Strong synaptic transmission impact by copy number variations in schizophrenia
- Author
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Glessner, Joseph T., Reilly, Muredach P., Kim, Cecilia E., Takahashi, Nagahide, Albano, Anthony, Hou, Cuiping, Bradfield, Jonathan P., Zhang, Haitao, Sleiman, Patrick M. A., Flory, James H., Imielinski, Marcin, Frackelton, Edward C., Chiavacci, Rosetta, Thomas, Kelly A., Garris, Maria, Otieno, Frederick G., Davidson, Michael, Weiser, Mark, Reichenberg, Abraham, Davis, Kenneth L., Friedman, Joseph I., Cappola, Thomas P., Margulies, Kenneth B., Rader, Daniel J., Grant, Struan F. A., Buxbaum, Joseph D., Gur, Raquel E., Hakonarson, Hakon, and Lupski, James R.
- Published
- 2010
24. Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism
- Author
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Li, Dong, Tian, Lifeng, Hou, Cuiping, Kim, Cecilia E., Hakonarson, Hakon, and Levine, Michael A.
- Published
- 2016
25. I grew up in the South. As an Asian, I was never welcome
- Author
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Kim, Cecilia
- Subjects
Asian Americans -- Crimes against -- Statistics ,Hate crimes -- Statistics -- Casualties ,General interest ,News, opinion and commentary - Abstract
Byline: Cecilia Kim For Print Use Only. When I heard the news Wednesday morning of the shootings that took place in Georgia, I was getting ready to catch a flight [...]
- Published
- 2021
26. Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome
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Bhoj, Elizabeth J., Li, Dong, Harr, Margaret H., Tian, Lifeng, Wang, Tiancheng, Zhao, Yan, Qiu, Haijun, Kim, Cecilia, Hoffman, Jodi D., Hakonarson, Hakon, and Zackai, Elaine H.
- Published
- 2015
- Full Text
- View/download PDF
27. Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions
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Barthold, Julia Spencer, Wang, Yanping, Kolon, Thomas F., Kollin, Claude, Nordenskjöld, Agneta, Olivant Fisher, Alicia, Figueroa, T. Ernesto, BaniHani, Ahmad H., Hagerty, Jennifer A., Gonzaléz, Ricardo, Noh, Paul H., Chiavacci, Rosetta M., Harden, Kisha R., Abrams, Debra J., Kim, Cecilia E., Li, Jin, Hakonarson, Hakon, and Devoto, Marcella
- Published
- 2015
- Full Text
- View/download PDF
28. Genome-wide association study of maternal and inherited effects on left-sided cardiac malformations
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Mitchell, Laura E., Agopian, A.J., Bhalla, Angela, Glessner, Joseph T., Kim, Cecilia E., Swartz, Michael D., Hakonarson, Hakon, and Goldmuntz, Elizabeth
- Published
- 2015
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- View/download PDF
29. Salt at Dawn, Salt in my Veins
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Kim, Cecilia Hankyeol
- Abstract
VCU Theses and Dissertations
- Published
- 2021
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30. Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate
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Falk, Marni J., primary, Li, Dong, additional, Gai, Xiaowu, additional, McCormick, Elizabeth, additional, Place, Emily, additional, Lasorsa, Francesco M., additional, Otieno, Frederick G., additional, Hou, Cuiping, additional, Kim, Cecilia E., additional, Abdel-Magid, Nada, additional, Vazquez, Lyam, additional, Mentch, Frank D., additional, Chiavacci, Rosetta, additional, Liang, Jinlong, additional, Liu, Xuanzhu, additional, Jiang, Hui, additional, Giannuzzi, Giulia, additional, Marsh, Eric D., additional, Guo, Yiran, additional, Tian, Lifeng, additional, Palmieri, Ferdinando, additional, and Hakonarson, Hakon, additional
- Published
- 2014
- Full Text
- View/download PDF
31. Integrative genomics identifies LMO1 as a neuroblastoma oncogene
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Wang, Kai, Diskin, Sharon J., Zhang, Haitao, Attiyeh, Edward F., Winter, Cynthia, Hou, Cuiping, Schnepp, Robert W., Diamond, Maura, Bosse, Kristopher, Mayes, Patrick A., Glessner, Joseph, Kim, Cecilia, Frackelton, Edward, Garris, Maria, Wang, Qun, Glaberson, Wendy, Chiavacci, Rosetta, Nguyen, Le, Jagannathan, Jayanti, Saeki, Norihisa, Sasaki, Hiroki, Grant, Struan F.A., Iolascon, Achille, Mosse, Yael P., Cole, Kristina A., Li, Hongzhe, Devoto, Marcella, McGrady, Patrick W., London, Wendy B., Capasso, Mario, Rahman, Nazneen, Hakonarson, Hakon, and Maris, John M.
- Subjects
Genomics -- Research -- Genetic aspects ,Neuroblastoma -- Genetic aspects -- Research ,Oncogenes -- Identification and classification -- Research -- Genetic aspects ,Environmental issues ,Science and technology ,Zoology and wildlife conservation - Abstract
Neuroblastoma is a childhood cancer of the sympathetic nervous system that accounts for approximately 10% of all paediatric oncology deaths (1,2). To identify genetic risk factors for neuroblastoma, we performed a genome-wide association study (GWAS) on 2,251 patients and 6,097 control subjects of European ancestry from four case series. Here we report a significant association within LIM domain only 1 (LMO1) at 11p15.4 (rs110419, combined P= 5.2 X [10.sup-16], odds ratio of risk allele = 1.34 (95% confidence interval 1.25-1.44)). The signal was enriched in the subset ofpatients with the most aggressive form of the disease. LMO1 encodes a cysteine-rich transcriptional regulator, and its paralogues (LMO2, LMO3 and LMO4) have each been previously implicated in cancer. In parallel, we analysed genome-wide DNA copy number alterations in 701 primary tumours. We found that the LMO1 locus was aberrant in 12.4% through a duplication event, and that this event was associated with more advanced disease (P < 0.0001) and survival (P = 0.041). The germline single nucleotide polymorphism (SNP) risk alleles and somatic copy number gains were associated with increased LMO1expression in neuroblastoma cell lines and primary tumours, consistent with a gain-of-function role in tumorigenesis. Short hairpin RNA (shRNA)-mediated depletion of LMO1 inhibited growth of neuroblastoma cells with high LMO1 expression, whereas forced expression of LMO1 in neuroblastoma cells with low LMO1expression enhanced proliferation. These data show that common polymorphisms at the LMO1 locus are strongly associated with susceptibility to developing neuroblastoma, but also may influence the likelihood of further somatic alterations at this locus, leading to malignant progression., Multiple somatically acquired chromosomal rearrangements, such as focal amplification of the MYCN oncogene or deletions at chromosome arms 1p or 11q, are each associated with an aggressive neuroblastoma phenotype (2). [...]
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- 2011
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32. A genome-wide study reveals copy number variants exclusive to childhood obesity cases
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Glessner, Joseph T., Bradfield, Jonathan P., Kai Wang, Takahashi, Nagahide, Haitao Zhang, Sleiman, Patrick M., Mentch, Frank D., Kim, Cecilia E., Cuiping Hou, Thomas, Kelly A., Garris, Maria L., Deliard, Sandra, Frackelton, Edward C., Otieno, F. George, Jainhua Zhao, Chiavacci, Rosetta M., Mingyao Li, Buxbaum, Joseph D., Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.
- Subjects
Obesity in children -- Genetic aspects ,Obesity in children -- Demographic aspects ,Single nucleotide polymorphisms -- Analysis ,Biological sciences - Abstract
A whole-genome copy number variations (CNV) study in a large cohort of child hood-obesity cases and lean controls of European ancestry who were genotyped with the Illumina Infinium II HumanHap550K BeadChip was performed to examine the CNVs in a large pediatric cohort presenting with common obesity that is primarily nonsyndromic. The results indicated that CNVs contributed to the genetic susceptibility of common childhood obesity in subjects of both European and African ancestry.
- Published
- 2010
33. Copy number variation at 1q21.1 associated with neuroblastoma
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Diskin, Sharon J., Hou, Cuiping, Glessner, Joseph T., Attiyeh, Edward F., Laudenslager, Marci, Bosse, Kristopher, Cole, Kristina, Mossé, Yaël P., Wood, Andrew, Lynch, Jill E., Pecor, Katlyn, Diamond, Maura, Winter, Cynthia, Wang, Kai, Kim, Cecilia, Geiger, Elizabeth A., McGrady, Patrick W., Blakemore, Alexandra I. F., London, Wendy B., Shaikh, Tamim H., Bradfield, Jonathan, Grant, Struan F. A., Li, Hongzhe, Devoto, Marcella, Rappaport, Eric R., Hakonarson, Hakon, and Maris, John M.
- Published
- 2009
- Full Text
- View/download PDF
34. Variants of DENND1B associated with asthma in children
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Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Kai Wang, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Haitao Zhang, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Cuiping Hou, Otieno, F. George, Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, WIlliam O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Hongzhe Li, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon
- Subjects
Asthma in children -- Genetic aspects ,Corticosteroids -- Usage ,Single nucleotide polymorphisms -- Analysis - Abstract
A study was conducted to evaluate whether variants of DENND1B locus may influence the onset of asthma in children. Results have indicated that the locus DENND1B is associated with susceptibility to asthma.
- Published
- 2009
35. Common genetic variants on 5p14.1 associate with autism spectrum disorders
- Author
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Wang, Kai, Zhang, Haitao, Ma, Deqiong, Bucan, Maja, Glessner, Joseph T., Abrahams, Brett S., Salyakina, Daria, Imielinski, Marcin, Bradfield, Jonathan P., Sleiman, Patrick M.A., Kim, Cecilia E., Hou, Cuiping, Frackelton, Edward, Chiavacci, Rosetta, Takahashi, Nagahide, Sakurai, Takeshi, Rappaport, Eric, Lajonchere, Clara M., Munson, Jeffrey, Estes, Annette, Korvatska, Olena, Piven, Joseph, Sonnenblick, Lisa I., Retuerto, Ana I. Alvarez, Herman, Edward I., Hutman, Ted, Sigman, Marian, Ozonoff, Sally, Klin, Ami, Owley, Thomas, Sweeney, John A., Brune, Camille W., Cantor, Rita M., Bernier, Raphael, Gilbert, John R., Cuccaro, Michael L., McMahon, William M., Miller, Judith, State, Matthew W., Wassink, Thomas H., Coon, Hilary, Levy, Susan E., Schult, Robert T., Nurnberger, John I. Jr., Haines, Jonathan L., Sutcliffe, James S., Cook, Edwin H., Minshew, Nancy J., Buxbaums, Joseph D., Dawson, Geraldine, Grant, Struan F.A., Geschwind, Daniel H., Pericak-Vance, Margaret A., Schellenberg, Gerard D., and Hakonarson, Hakon
- Subjects
Pervasive developmental disorders -- Genetic aspects -- Risk factors ,Genetic research -- Genetic aspects ,Environmental issues ,Science and technology ,Zoology and wildlife conservation ,Genetic aspects ,Risk factors - Abstract
Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental and neuropsychiatric disorders characterized by deficits in verbal communication, impairment of social interaction, and restricted and repetitive patterns of interests and behaviour. To identify common genetic risk factors underlying ASDs, here we present the results of genome-wide association studies on a cohort of 780 families (3,101 subjects) with affected children, and a second cohort of 1,204 affected subjects and 6,491 control subjects, all of whom were of European ancestry. Six single nucleotide polymorphisms between cadherin 10 (CDH10) and cadherin 9 (CDH9)-two genes encoding neuronal cell-adhesion molecules-revealed strong association signals, with the most significant SNP being rs4307059 (P = 3.4 X [10.sup.-8], odds ratio =1.19). These signals were replicated in two independent cohorts, with combined Pvalues ranging from 7.4 X [10.sup.-8] to 2.1 X [10.sup.-10]. Our results implicate neuronal cell-adhesion molecules in the pathogenesis of ASDs, and represent, to our knowledge, the first demonstration of genome-wide significant association of common variants with susceptibility to ASDs., ASDs encompass a range of clinically defined conditions, including autism and pervasive developmental disorder not otherwise specified, which are more common and severe, as well as Asperger's syndrome, which appears [...]
- Published
- 2009
36. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
- Author
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Wang, Kai, Cai, Guiqing, Korvatska, Olena, Kim, Cecilia E., Wood, Shawn, Zhang, Haitao, Estes, Annette, Brune, Camille W., Bradfield, Jonathan P., Imielinski, Marcin, Frackelton, Edward C., Reichert, Jennifer, Crawford, Emily L., Munson, Jeffrey, Sleiman, Patrick M.A., Chiavacci, Rosetta, Annaiah, Kiran, Thomas, Kelly, Hou, Cuiping, Glaberson, Wendy, Flory, James, Otieno, Frederick, Garris, Maria, Soorya, Latha, Klei, Lambertus, Piven, Joseph, Meyer, Kacie J., Anagnostou, Evdokia, Sakurai, Takeshi, Game, Rachel M., Rudd, Danielle S., Zurawiecki, Danielle, McDouglelo, Christopher J., Davis, Lea K., Miller, Judith, Posey, David J., Michaels, Shana, Kolevzon, Alexander, Silverman, Jeremy M., Bernier, Raphael, Levy, Susan E., Schultz, Robert T., Dawson, Geraldine, Owleys, Thomas, McMahon, William M., Wassink, Thomas H., Sweeney, John A., Nurnberger, Jr., John I., Coon, Hilary, Sutcliffe, James S., Minshew, Nancy J., Grant, Struan F.A., Bucan, Maja, Cook, Jr., Edwin H., Buxbaum, Joseph D., Devlin, Bernie D., Schellenberg, Gerard D., and Hakonarson, Hakon
- Subjects
Neurons -- Properties -- Genetic aspects ,Ubiquitin -- Properties -- Genetic aspects ,Autism -- Genetic aspects ,Environmental issues ,Science and technology ,Zoology and wildlife conservation ,Genetic aspects ,Properties - Abstract
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins(1-4). Previous studies focusing on candidate genes or genomic regions have identified several copy number variations (CNVs) that are associated with an increased risk of ASDs(5-9). Here we present the results from a whole-genome CNV study on a cohort of 859 ASD cases and 1,409 healthy children of European ancestry who were genotyped with 550,000 single nucleotide polymorphism markers, in an attempt to comprehensively identify CNVs conferring susceptibility to ASDs. Positive findings were evaluated in an independent cohort of 1,336 ASD cases and 1,110 controls of European ancestry. Besides previously reported ASD candidate genes, such as NRXNI (ref. 10) and CNTN4 (refs 11, 12), several new susceptibility genes encoding neuronal cell-adhesion molecules, including NLGNI and ASTN2, were enriched with CNVs in ASD cases compared to controls (P = 9.5 x [10.sup.-3]). Furthermore, CNVs within or surrounding genes involved in the ubiquitin pathways, including UBE3A, PARKZ RFWD2 and FBX040, were affected by CNVs not observed in controls (P= 3.3 x [10.sup.-3]). We also identified duplications 55 kilobases upstream of complementary DNA AK123120 (P=3.6 x [10.sup.-6]). Although these variants may be individually rare, they target genes involved in neuronal cell-adhesion or ubiquitin degradation, indicating that these two important gene networks expressed within the central nervous system may contribute to the genetic susceptibility of ASD., ASDs, including autism, are neurodevelopmental disorders characterized by impairments in social and communication skills, as well as stereotyped and repetitive behaviours and/or a restricted range of interests. Current prevalence estimates [...]
- Published
- 2009
37. Identification of ALK as a major familial neuroblastoma predisposition gene
- Author
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Mosse, Yael P., Laudenslager, Marci, Longo, Luca, Cole, Kristina A., Wood, Andrew, Attiyeh, Edward F., Laquaglia, Michael J., Sennett, Rachel, Lynch, Jill E., Perri, Patrizia, Laureys, Genevieve, Speleman, Frank, Kim, Cecilia, Hou, Cuiping, Hakonarson, Hakon, Torkamani, Ali, Schork, Nicholas J., Brodeur, Garrett M., Tonini, Gian P., Rappaport, Eric, Devoto, Marcella, and Maris, John M.
- Subjects
Gene mutations -- Identification and classification -- Research -- Genetic aspects ,Neuroblastoma -- Genetic aspects -- Risk factors -- Research ,Environmental issues ,Science and technology ,Zoology and wildlife conservation ,Identification and classification ,Genetic aspects ,Research ,Risk factors - Abstract
Neuroblastoma is a childhood cancer that can be inherited, but the genetic aetiology is largely unknown. Here we show that germline mutations in the anaplastic lymphoma kinase (ALK) gene explain [...]
- Published
- 2008
38. Association of Variants of the Interleukin-23 Receptor Gene With Susceptibility to Pediatric Crohn’s Disease
- Author
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Baldassano, Robert N., Bradfield, Jonathan P., Monos, Dimitri S., Kim, Cecilia E., Glessner, Joseph T., Casalunovo, Tracy, Frackelton, Edward C., Otieno, F. George, Kanterakis, Stathis, Shaner, Julie L., Smith, Ryan M., Eckert, Andrew W., Robinson, Luke J., Onyiah, Chioma C., Abrams, Debra J., Chiavacci, Rosetta M., Skraban, Robert, Devoto, Marcella, Grant, Struan F.A., and Hakonarson, Hakon
- Published
- 2007
- Full Text
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39. GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children
- Author
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Li, Jin, Glessner, Joseph T., Zhang, Haitao, Hou, Cuiping, Wei, Zhi, Bradfield, Jonathan P., Mentch, Frank D., Guo, Yiran, Kim, Cecilia, Xia, Qianghua, Chiavacci, Rosetta M., Thomas, Kelly A., Qiu, Haijun, Grant, Struan F.A., Furth, Susan L., Hakonarson, Hakon, and Sleiman, Patrick M.A.
- Published
- 2013
- Full Text
- View/download PDF
40. Methylation microarray studies of biliary atresia livers uncover potential role for platelet-derived growth factor (PDGF): 1271
- Author
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Matthews, Randolph P., Eau Claire, Steven F., Alloy, Alyssa, Kim, Cecilia E., and Hakonarson, Hakon
- Published
- 2012
41. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
- Author
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Couthouis, Julien, Hart, Michael P., Erion, Renske, King, Oliver D., Diaz, Zamia, Nakaya, Tadashi, Ibrahim, Fadia, Kim, Hyung-Jun, Mojsilovic-Petrovic, Jelena, Panossian, Saarene, Kim, Cecilia E., Frackelton, Edward C., Solski, Jennifer A., Williams, Kelly L., Clay-Falcone, Dana, Elman, Lauren, McCluskey, Leo, Greene, Robert, Hakonarson, Hakon, Kalb, Robert G., Lee, Virginia M.Y., Trojanowski, John Q., Nicholson, Garth A., Blair, Ian P., Bonini, Nancy M., Van Deerlin, Vivianna M., Mourelatos, Zissimos, Shorter, James, and Gitler, Aaron D.
- Published
- 2012
- Full Text
- View/download PDF
42. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
- Author
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Sawcer, Stephen, Hellenthal, Garrett, Pirinen, Matti, Spencer, Chris C. A., Patsopoulos, Nikolaos A., Moutsianas, Loukas, Dilthey, Alexander, Su, Zhan, Freeman, Colin, Hunt, Sarah E., Edkins, Sarah, Gray, Emma, Booth, David R., Potter, Simon C., Goris, An, Band, Gavin, Bang Oturai, Annette, Strange, Amy, Saarela, Janna, Bellenguez, Céline, Fontaine, Bertrand, Gillman, Matthew, Hemmer, Bernhard, Gwilliam, Rhian, Zipp, Frauke, Jayakumar, Alagurevathi, Martin, Roland, Leslie, Stephen, Hawkins, Stanley, Giannoulatou, Eleni, D’alfonso, Sandra, Blackburn, Hannah, Martinelli Boneschi, Filippo, Liddle, Jennifer, Harbo, Hanne F., Perez, Marc L., Spurkland, Anne, Waller, Matthew J., Mycko, Marcin P., Ricketts, Michelle, Comabella, Manuel, Hammond, Naomi, Kockum, Ingrid, McCann, Owen T., Ban, Maria, Whittaker, Pamela, Kemppinen, Anu, Weston, Paul, Hawkins, Clive, Widaa, Sara, Zajicek, John, Dronov, Serge, Robertson, Neil, Bumpstead, Suzannah J., Barcellos, Lisa F., Ravindrarajah, Rathi, Abraham, Roby, Alfredsson, Lars, Ardlie, Kristin, Aubin, Cristin, Baker, Amie, Baker, Katharine, Baranzini, Sergio E., Bergamaschi, Laura, Bergamaschi, Roberto, Bernstein, Allan, Berthele, Achim, Boggild, Mike, Bradfield, Jonathan P., Brassat, David, Broadley, Simon A., Buck, Dorothea, Butzkueven, Helmut, Capra, Ruggero, Carroll, William M., Cavalla, Paola, Celius, Elisabeth G., Cepok, Sabine, Chiavacci, Rosetta, Clerget-Darpoux, Françoise, Clysters, Katleen, Comi, Giancarlo, Cossburn, Mark, Cournu-Rebeix, Isabelle, Cox, Mathew B., Cozen, Wendy, Cree, Bruce A. C., Cross, Anne H., Cusi, Daniele, Daly, Mark J., Davis, Emma, de Bakker, Paul I. W., Debouverie, Marc, D’hooghe, Marie Beatrice, Dixon, Katherine, Dobosi, Rita, Dubois, Bénédicte, Ellinghaus, David, Elovaara, Irina, Esposito, Federica, Fontenille, Claire, Foote, Simon, Franke, Andre, Galimberti, Daniela, Ghezzi, Angelo, Glessner, Joseph, Gomez, Refujia, Gout, Olivier, Graham, Colin, Grant, Struan F. A., Rosa Guerini, Franca, Hakonarson, Hakon, Hall, Per, Hamsten, Anders, Hartung, Hans-Peter, Heard, Rob N., Heath, Simon, Hobart, Jeremy, Hoshi, Muna, Infante-Duarte, Carmen, Ingram, Gillian, Ingram, Wendy, Islam, Talat, Jagodic, Maja, Kabesch, Michael, Kermode, Allan G., Kilpatrick, Trevor J., Kim, Cecilia, Klopp, Norman, Koivisto, Keijo, Larsson, Malin, Lathrop, Mark, Lechner-Scott, Jeannette S., Leone, Maurizio A., Leppä, Virpi, Liljedahl, Ulrika, Lima Bomfim, Izaura, Lincoln, Robin R., Link, Jenny, Liu, Jianjun, Lorentzen, Åslaug R., Lupoli, Sara, Macciardi, Fabio, Mack, Thomas, Marriott, Mark, Martinelli, Vittorio, Mason, Deborah, McCauley, Jacob L., Mentch, Frank, Mero, Inger-Lise, Mihalova, Tania, Montalban, Xavier, Mottershead, John, Myhr, Kjell-Morten, Naldi, Paola, Ollier, William, Page, Alison, Palotie, Aarno, Pelletier, Jean, Piccio, Laura, Pickersgill, Trevor, Piehl, Fredrik, Pobywajlo, Susan, Quach, Hong L., Ramsay, Patricia P., Reunanen, Mauri, Reynolds, Richard, Rioux, John D., Rodegher, Mariaemma, Roesner, Sabine, Rubio, Justin P., Rückert, Ina-Maria, Salvetti, Marco, Salvi, Erika, Santaniello, Adam, Schaefer, Catherine A., Schreiber, Stefan, Schulze, Christian, Scott, Rodney J., Sellebjerg, Finn, Selmaj, Krzysztof W., Sexton, David, Shen, Ling, Simms-Acuna, Brigid, Skidmore, Sheila, Sleiman, Patrick M. A., Smestad, Cathrine, Sørensen, Per Soelberg, Søndergaard, Helle Bach, Stankovich, Jim, Strange, Richard C., Sulonen, Anna-Maija, Sundqvist, Emilie, Syvänen, Ann-Christine, Taddeo, Francesca, Taylor, Bruce, Blackwell, Jenefer M., Tienari, Pentti, Bramon, Elvira, Tourbah, Ayman, Brown, Matthew A., Tronczynska, Ewa, Casas, Juan P., Tubridy, Niall, Corvin, Aiden, Vickery, Jane, Jankowski, Janusz, Villoslada, Pablo, Markus, Hugh S., Wang, Kai, Mathew, Christopher G., Wason, James, Palmer, Colin N. A., Wichmann, H-Erich, Plomin, Robert, Willoughby, Ernest, Rautanen, Anna, Winkelmann, Juliane, Wittig, Michael, Trembath, Richard C., Yaouanq, Jacqueline, Viswanathan, Ananth C., Zhang, Haitao, Wood, Nicholas W., Zuvich, Rebecca, Deloukas, Panos, Langford, Cordelia, Duncanson, Audrey, Oksenberg, Jorge R., Pericak-Vance, Margaret A., Haines, Jonathan L., Olsson, Tomas, Hillert, Jan, Ivinson, Adrian J., De Jager, Philip L., Peltonen, Leena, Stewart, Graeme J., Hafler, David A., Hauser, Stephen L., McVean, Gil, Donnelly, Peter, and Compston, Alastair
- Published
- 2011
- Full Text
- View/download PDF
43. SOCIAL COGNITIVE PROCESSING IN COUPLES COPING WITH HEAD AND NECK CANCERS (HNC): Paper Session 02 2:54 PM-3:12 PM 2054
- Author
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Badr, Hoda, Milbury, Kathrin, Lee, Catherine, Kim, Cecilia, Sallam, Aminah, and Manne, Sharon
- Published
- 2011
44. Information Needs of Patients Diagnosed with Head and Neck Cancer Undergoing Radiation Therapy: a Survey of Patient Satisfaction
- Author
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Kim, Cecilia, primary, Dillon, Ruth, additional, Nica, Luminita, additional, Berthelet, Eric, additional, Keyes, Mira, additional, and Hamilton, Sarah Nicole, additional
- Published
- 2020
- Full Text
- View/download PDF
45. Functional impact of global rare copy number variation in autism spectrum disorders
- Author
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Pinto, Dalila, Pagnamenta, Alistair T., Klei, Lambertus, Anney, Richard, Merico, Daniele, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bader, Gary D., Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Bryson, Susan E., Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chung, Brian H.Y., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Cytrynbaum, Cheryl, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Andrew, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Pilorge, Marion, Piven, Joseph, Ponting, Chris P., Posey, David J., Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Sequeira, Ana F., Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stein, Olaf, Sykes, Nuala, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Webber, Caleb, Weksberg, Rosanna, Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Wu, Jing, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Devlin, Bernie, Ennis, Sean, Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Hallmayer, Joachim, Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Jr, Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Scherer, Stephen W., Sutcliffe, James S., and Betancur, Catalina
- Published
- 2010
- Full Text
- View/download PDF
46. In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium
- Author
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Qu, Hui-Qi, Bradfield, Jonathan P., Li, Quan, Kim, Cecilia, Frackelton, Edward, Grant, Struan F.A., Hakonarson, Hakon, and Polychronakos, Constantin
- Published
- 2010
- Full Text
- View/download PDF
47. Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects
- Author
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Wang, Kai, Baldassano, Robert, Zhang, Haitao, Qu, Hui-Qi, Imielinski, Marcin, Kugathasan, Subra, Annese, Vito, Dubinsky, Marla, Rotter, Jerome I., Russell, Richard K., Bradfield, Jonathan P., Sleiman, Patrick M.A., Glessner, Joseph T., Walters, Thomas, Hou, Cuiping, Kim, Cecilia, Frackelton, Edward C., Garris, Maria, Doran, James, Romano, Claudio, Catassi, Carlo, Van Limbergen, Johan, Guthery, Stephen L., Denson, Lee, Piccoli, David, Silverberg, Mark S., Stanley, Charles A., Monos, Dimitri, Wilson, David C., Griffiths, Anne, Grant, Struan F.A., Satsangi, Jack, Polychronakos, Constantin, and Hakonarson, Hakon
- Published
- 2010
- Full Text
- View/download PDF
48. Examination of All Type 2 Diabetes GWAS Loci Reveals HHEX-IDE as a Locus Influencing Pediatric BMI
- Author
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Zhao, Jianhua, Bradfield, Jonathan P., Zhang, Haitao, Annaiah, Kiran, Wang, Kai, Kim, Cecilia E., Glessner, Joseph T., Frackelton, Edward C., Otieno, F. George, Doran, James, Thomas, Kelly A., Garris, Maria, Hou, Cuiping, Chiavacci, Rosetta M., Li, Mingyao, Berkowitz, Robert I., Hakonarson, Hakon, and Grant, Struan F.A.
- Published
- 2010
49. Variants of DENND1B Associated with Asthma in Children
- Author
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Sleiman, Patrick M.A., Flory, James, Imielinski, Marcin, Bradfield, Jonathan P., Annaiah, Kiran, Willis-Owen, Saffron A.G., Wang, Kai, Rafaels, Nicholas M., Michel, Sven, Bonnelykke, Klaus, Zhang, Haitao, Kim, Cecilia E., Frackelton, Edward C., Glessner, Joseph T., Hou, Cuiping, Otieno, George F., Santa, Erin, Thomas, Kelly, Smith, Ryan M., Glaberson, Wendy R., Garris, Maria, Chiavacci, Rosetta M., Beaty, Terri H., Ruczinski, Ingo, Orange, Jordan M., Allen, Julian, Spergel, Jonathan M., Grundmeier, Robert, Mathias, Rasika A., Christie, Jason D., von Mutius, Erika, Cookson, William O.C., Kabesch, Michael, Moffatt, Miriam F., Grunstein, Michael M., Barnes, Kathleen C., Devoto, Marcella, Magnusson, Mark, Li, Hongzhe, Grant, Struan F.A., Bisgaard, Hans, and Hakonarson, Hakon
- Published
- 2010
- Full Text
- View/download PDF
50. A Genome-Wide Association Study Identifies a Locus for Nonsyndromic Cleft Lip with or without Cleft Palate on 8q24
- Author
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Grant, Struan F.A., Wang, Kai, Zhang, Haitao, Glaberson, Wendy, Annaiah, Kiran, Kim, Cecilia E., Bradfield, Jonathan P., Glessner, Joseph T., Thomas, Kelly A., Garris, Maria, Frackelton, Edward C., Otieno, George F., Chiavacci, Rosetta M., Nah, Hyun-Duck, Kirschner, Richard E., and Hakonarson, Hakon
- Published
- 2009
Catalog
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