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Auteur Stephen SCHERER |
Documents disponibles écrits par cet auteur (19)
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Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders / Catarina T. CORREIA in Molecular Autism, (April 2014)
[article]
Titre : Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders Type de document : Texte imprimé et/ou numérique Auteurs : Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur Article en page(s) : p.1-14 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276
in Molecular Autism > (April 2014) . - p.1-14[article] Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders [Texte imprimé et/ou numérique] / Catarina T. CORREIA, Auteur ; Inês C. CONCEIÇÃO, Auteur ; Bárbara OLIVEIRA, Auteur ; Joana COELHO, Auteur ; Inês SOUSA, Auteur ; Ana F. SEQUEIRA, Auteur ; Joana ALMEIDA, Auteur ; Cátia CAFÉ, Auteur ; Frederico DUQUE, Auteur ; Susana MOUGA, Auteur ; Wendy ROBERTS, Auteur ; Kun GAO, Auteur ; Jennifer K. LOWE, Auteur ; Bhooma THIRUVAHINDRAPURAM, Auteur ; Susan WALKER, Auteur ; Christian R. MARSHALL, Auteur ; Dalila PINTO, Auteur ; John I. NURNBERGER, Auteur ; Stephen SCHERER, Auteur ; Daniel H. GESCHWIND, Auteur ; Guiomar OLIVEIRA, Auteur ; Astrid M. VICENTE, Auteur . - p.1-14.
Langues : Anglais (eng)
in Molecular Autism > (April 2014) . - p.1-14
Index. décimale : PER Périodiques Résumé : Validating the potential pathogenicity of copy number variants (CNVs) identified in genome-wide studies of autism spectrum disorders (ASD) requires detailed assessment of case/control frequencies, inheritance patterns, clinical correlations, and functional impact. Here, we characterize a small recurrent duplication in the annexin A1 (ANXA1) gene, identified by the Autism Genome Project (AGP) study. En ligne : http://dx.doi.org/10.1186/2040-2392-5-28 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses / Joseph D. BUXBAUM in Molecular Autism, (May 2014)
[article]
Titre : The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses Type de document : Texte imprimé et/ou numérique Auteurs : Joseph D. BUXBAUM, Auteur ; Nadia BOLSHAKOVA, Auteur ; Jessica M. BROWNFELD, Auteur ; Richard ANNEY, Auteur ; Patrick BENDER, Auteur ; Raphael BERNIER, Auteur ; Edwin H. Jr COOK, Auteur ; Hilary COON, Auteur ; Michael L. CUCCARO, Auteur ; Christine M. FREITAG, Auteur ; Joachim F. HALLMAYER, Auteur ; Daniel GESCHWIND, Auteur ; Sabine M. KLAUCK, Auteur ; John I. NURNBERGER, Auteur ; Guiomar OLIVEIRA, Auteur ; Dalila PINTO, Auteur ; Fritz POUSTKA, Auteur ; Stephen SCHERER, Auteur ; Andy SHIH, Auteur ; James S. SUTCLIFFE, Auteur ; Peter SZATMARI, Auteur ; Astrid M. VICENTE, Auteur ; Veronica VIELAND, Auteur ; Louise GALLAGHER, Auteur Article en page(s) : p.1-8 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276
in Molecular Autism > (May 2014) . - p.1-8[article] The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses [Texte imprimé et/ou numérique] / Joseph D. BUXBAUM, Auteur ; Nadia BOLSHAKOVA, Auteur ; Jessica M. BROWNFELD, Auteur ; Richard ANNEY, Auteur ; Patrick BENDER, Auteur ; Raphael BERNIER, Auteur ; Edwin H. Jr COOK, Auteur ; Hilary COON, Auteur ; Michael L. CUCCARO, Auteur ; Christine M. FREITAG, Auteur ; Joachim F. HALLMAYER, Auteur ; Daniel GESCHWIND, Auteur ; Sabine M. KLAUCK, Auteur ; John I. NURNBERGER, Auteur ; Guiomar OLIVEIRA, Auteur ; Dalila PINTO, Auteur ; Fritz POUSTKA, Auteur ; Stephen SCHERER, Auteur ; Andy SHIH, Auteur ; James S. SUTCLIFFE, Auteur ; Peter SZATMARI, Auteur ; Astrid M. VICENTE, Auteur ; Veronica VIELAND, Auteur ; Louise GALLAGHER, Auteur . - p.1-8.
Langues : Anglais (eng)
in Molecular Autism > (May 2014) . - p.1-8
Index. décimale : PER Périodiques Résumé : There is an urgent need for expanding and enhancing autism spectrum disorder (ASD) samples, in order to better understand causes of ASD. En ligne : http://dx.doi.org/10.1186/2040-2392-5-34 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=276 Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation / M. J. GAZZELLONE in Journal of Neurodevelopmental Disorders, 8-1 (December 2016)
[article]
Titre : Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation Type de document : Texte imprimé et/ou numérique Auteurs : M. J. GAZZELLONE, Auteur ; M. ZARREI, Auteur ; C. L. BURTON, Auteur ; S. WALKER, Auteur ; M. UDDIN, Auteur ; S. M. SHAHEEN, Auteur ; J. COSTE, Auteur ; R. RAJENDRAM, Auteur ; R. J. SCHACHTER, Auteur ; M. COLASANTO, Auteur ; G. L. HANNA, Auteur ; D. R. ROSENBERG, Auteur ; N. SORENI, Auteur ; K. D. FITZGERALD, Auteur ; C. R. MARSHALL, Auteur ; J. A. BUCHANAN, Auteur ; D. MERICO, Auteur ; P. D. ARNOLD, Auteur ; Stephen SCHERER, Auteur Article en page(s) : p.36 Langues : Anglais (eng) Mots-clés : Copy number variation Obsessive-compulsive disorder Pediatrics Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD. RESULTS: We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 x 10(-03); FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten "CNV positive" trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4. CONCLUSIONS: Our findings suggest that rare CNVs may contribute to the etiology of OCD. En ligne : http://dx.doi.org/10.1186/s11689-016-9170-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.36[article] Uncovering obsessive-compulsive disorder risk genes in a pediatric cohort by high-resolution analysis of copy number variation [Texte imprimé et/ou numérique] / M. J. GAZZELLONE, Auteur ; M. ZARREI, Auteur ; C. L. BURTON, Auteur ; S. WALKER, Auteur ; M. UDDIN, Auteur ; S. M. SHAHEEN, Auteur ; J. COSTE, Auteur ; R. RAJENDRAM, Auteur ; R. J. SCHACHTER, Auteur ; M. COLASANTO, Auteur ; G. L. HANNA, Auteur ; D. R. ROSENBERG, Auteur ; N. SORENI, Auteur ; K. D. FITZGERALD, Auteur ; C. R. MARSHALL, Auteur ; J. A. BUCHANAN, Auteur ; D. MERICO, Auteur ; P. D. ARNOLD, Auteur ; Stephen SCHERER, Auteur . - p.36.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 8-1 (December 2016) . - p.36
Mots-clés : Copy number variation Obsessive-compulsive disorder Pediatrics Whole-exome sequencing Index. décimale : PER Périodiques Résumé : BACKGROUND: Obsessive-compulsive disorder (OCD) is a heterogeneous neuropsychiatric condition, thought to have a significant genetic component. When onset occurs in childhood, affected individuals generally exhibit different characteristics from adult-onset OCD, including higher prevalence in males and increased heritability. Since neuropsychiatric conditions are associated with copy number variations (CNVs), we considered their potential role in the etiology of OCD. METHODS: We genotyped 307 unrelated pediatric probands with idiopathic OCD (including 174 that were part of complete parent-child trios) and compared their genotypes with those of 3861 population controls, to identify rare CNVs (<0.5 % frequency) of at least 15 kb in size that might contribute to OCD. RESULTS: We uncovered de novo CNVs in 4/174 probands (2.3 %). Our case cohort was enriched for CNVs in genes that encode targets of the fragile X mental retardation protein (nominal p = 1.85 x 10(-03); FDR=0.09), similar to previous findings in autism and schizophrenia. These results also identified deletions or duplications of exons in genes involved in neuronal migration (ASTN2), synapse formation (NLGN1 and PTPRD), and postsynaptic scaffolding (DLGAP1 and DLGAP2), which may be relevant to the pathogenesis of OCD. Four cases had CNVs involving known genomic disorder loci (1q21.1-21.2, 15q11.2-q13.1, 16p13.11, and 17p12). Further, we identified BTBD9 as a candidate gene for OCD. We also sequenced exomes of ten "CNV positive" trios and identified in one an additional plausibly relevant mutation: a 13 bp exonic deletion in DRD4. CONCLUSIONS: Our findings suggest that rare CNVs may contribute to the etiology of OCD. En ligne : http://dx.doi.org/10.1186/s11689-016-9170-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=349 Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 / A. S. L. MAK in Molecular Autism, 8 (2017)
[article]
Titre : Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 Type de document : Texte imprimé et/ou numérique Auteurs : A. S. L. MAK, Auteur ; A. T. G. CHIU, Auteur ; G. K. C. LEUNG, Auteur ; C. C. Y. MAK, Auteur ; Y. W. Y. CHU, Auteur ; G. T. K. MOK, Auteur ; W. F. TANG, Auteur ; K. Y. K. CHAN, Auteur ; M. H. Y. TANG, Auteur ; E. T. LAU YIM, Auteur ; K. W. SO, Auteur ; V. Q. TAO, Auteur ; C. W. FUNG, Auteur ; Virginia C.N. WONG, Auteur ; M. UDDIN, Auteur ; S. L. LEE, Auteur ; C. R. MARSHALL, Auteur ; Stephen SCHERER, Auteur ; A. S. Y. KAN, Auteur ; B. H. Y. CHUNG, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder (ASD) Chinese Copy number variations (CNVs) Dpp10 Index. décimale : PER Périodiques Résumé : BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings. En ligne : http://dx.doi.org/10.1186/s13229-017-0136-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330
in Molecular Autism > 8 (2017) . - 31p.[article] Use of clinical chromosomal microarray in Chinese patients with autism spectrum disorder-implications of a copy number variation involving DPP10 [Texte imprimé et/ou numérique] / A. S. L. MAK, Auteur ; A. T. G. CHIU, Auteur ; G. K. C. LEUNG, Auteur ; C. C. Y. MAK, Auteur ; Y. W. Y. CHU, Auteur ; G. T. K. MOK, Auteur ; W. F. TANG, Auteur ; K. Y. K. CHAN, Auteur ; M. H. Y. TANG, Auteur ; E. T. LAU YIM, Auteur ; K. W. SO, Auteur ; V. Q. TAO, Auteur ; C. W. FUNG, Auteur ; Virginia C.N. WONG, Auteur ; M. UDDIN, Auteur ; S. L. LEE, Auteur ; C. R. MARSHALL, Auteur ; Stephen SCHERER, Auteur ; A. S. Y. KAN, Auteur ; B. H. Y. CHUNG, Auteur . - 31p.
Langues : Anglais (eng)
in Molecular Autism > 8 (2017) . - 31p.
Mots-clés : Array comparative genomic hybridization (aCGH) Autism spectrum disorder (ASD) Chinese Copy number variations (CNVs) Dpp10 Index. décimale : PER Périodiques Résumé : BACKGROUND: Array comparative genomic hybridization (aCGH) is recommended as a first-tier genetic test for children with autism spectrum disorder (ASD). However, interpretation of results can often be challenging partly due to the fact that copy number variants (CNVs) in non-European ASD patients are not well studied. To address this literature gap, we report the CNV findings in a cohort of Chinese children with ASD. METHODS: DNA samples were obtained from 258 Chinese ASD patients recruited from a child assessment center between January 2011 and August 2014. aCGH was performed using NimbleGen-CGX-135k or Agilent-CGX 60k oligonucleotide array. Results were classified based on existing guidelines and literature. RESULTS: Ten pathogenic CNVs and one likely pathogenic CNV were found in nine patients, with an overall diagnostic yield of 3.5%. A 138 kb duplication involving 3' exons of DPP10 (arr[GRCh37] 2q14.1(116534689_116672358)x3), reported to be associated with ASD, was identified in one patient (0.39%). The same CNV was reported as variant of uncertain significance (VUS) in DECIPHER database. Multiple individuals of typical development carrying a similar duplication were identified among our ancestry-matched control with a frequency of 6/653 (0.92%) as well as from literature and genomic databases. CONCLUSIONS: The DPP10 duplication is likely a benign CNV polymorphism enriched in Southern Chinese with a population frequency of ~1%. This highlights the importance of using ancestry-matched controls in interpretation of aCGH findings. En ligne : http://dx.doi.org/10.1186/s13229-017-0136-x Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=330