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Select item 70446271.

Association of GDNF and CNTNAP2 gene variants with gambling

Arundhuti Das, Luca Pagliaroli, Andrea Vereczkei, Eszter Kotyuk, Banrida Langstieh, Zsolt Demetrovics, Csaba Barta

J Behav Addict. 2019 Sep; 8(3): 471–478. Published online 2019 Aug 26. doi: 10.1556/2006.8.2019.40

PMCID:: PMC7044627

Abstract Article PDF–119K

Select item 63248192.

Comprehensive cross-disorder analyses of CNTNAP2 suggest it is unlikely to be a primary risk gene for psychiatric disorders

Claudio Toma, Kerrie D. Pierce, Alex D. Shaw, Anna Heath, Philip B. Mitchell, Peter R. Schofield, Janice M. Fullerton

PLoS Genet. 2018 Dec; 14(12): e1007535. Published online 2018 Dec 26. doi: 10.1371/journal.pgen.1007535

PMCID:: PMC6324819

Abstract Article PDF–1.3M

Select item 61163473.

Genetic variants in the CNTNAP2 gene are associated with gender differences among dyslexic children in China

Huaiting Gu, Fang Hou, Lingfei Liu, Xiu Luo, Pauline Denis Nkomola, Xinyan Xie, Xin Li, Ranran Song

EBioMedicine. 2018 Aug; 34: 165–170. Published online 2018 Jul 13. doi: 10.1016/j.ebiom.2018.07.007

PMCID:: PMC6116347

Abstract Article PDF–325K

Select item 1875424.

Protein–Protein Interactions Between Large Proteins: Two-Hybrid Screening Using a Functionally Classified Library Composed of Long cDNAs

Manabu Nakayama, Reiko Kikuno, Osamu Ohara

Genome Res. 2002 Nov; 12(11): 1773–1784. doi: 10.1101/gr.406902

PMCID:: PMC187542

Abstract Article PDF–374K

Select item 61343385.

Stage 2 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: testing the double hit hypothesis

Dianne F. Newbury, Nuala H. Simpson, Paul A. Thompson, Dorothy V. M. Bishop

Version 4. Wellcome Open Res. 2018; 3: 85. Published online 2021 Jun 1. doi: 10.12688/wellcomeopenres.14677.4

PMCID:: PMC6134338

Abstract Article PDF–2.1M

Select item 59047306.

Stage 1 Registered Report: Variation in neurodevelopmental outcomes in children with sex chromosome trisomies: protocol for a test of the double hit hypothesis

Dianne F. Newbury, Nuala H. Simpson, Paul A. Thompson, Dorothy V. M. Bishop

Version 2. Wellcome Open Res. 2018; 3: 10. Published online 2018 Apr 24. doi: 10.12688/wellcomeopenres.13828.2

PMCID:: PMC5904730

Abstract Article PDF–1.5M

Select item 54043307.

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

Xiaowei Sylvia Chen, Rose H. Reader, Alexander Hoischen, Joris A. Veltman, Nuala H. Simpson, Clyde Francks, Dianne F. Newbury, Simon E. Fisher

Sci Rep. 2017; 7: 46105. Published online 2017 Apr 25. doi: 10.1038/srep46105

PMCID:: PMC5404330

Abstract Article PDF–1.2M

Select item 48210788.

Epilepsy with auditory features: A heterogeneous clinico-molecular disease

Tommaso Pippucci, Laura Licchetta, Sara Baldassari, Flavia Palombo, Veronica Menghi, Romina D'Aurizio, Chiara Leta, Carlotta Stipa, Giovanni Boero, Giuseppe d'Orsi, Alberto Magi, Ingrid Scheffer, Marco Seri, Paolo Tinuper, Francesca Bisulli

Neurol Genet. 2015 Jun; 1(1): e5. Published online 2015 May 14. doi: 10.1212/NXG.0000000000000005

PMCID:: PMC4821078

Abstract Article PDF–492K

Select item 47891659.

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells

Inkyu S Lee, Claudia M B Carvalho, Panagiotis Douvaras, Seok-Man Ho, Brigham J Hartley, Luciana W Zuccherato, Ian G Ladran, Arthur J Siegel, Shane McCarthy, Dheeraj Malhotra, Jonathan Sebat, Judith Rapoport, Valentina Fossati, James R Lupski, Deborah L Levy, Kristen J Brennand

NPJ Schizophr. 2015; 1: 15019. Published online 2015 Jun 24. doi: 10.1038/npjschz.2015.19

PMCID:: PMC4789165

Abstract Article PDF–2.8M

Select item 469487710.

Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics

Sarah Munchel, Yen Hoang, Yue Zhao, Joseph Cottrell, Brandy Klotzle, Andrew K. Godwin, Devin Koestler, Peter Beyerlein, Jian-Bing Fan, Marina Bibikova, Jeremy Chien

Oncotarget. 2015 Sep 22; 6(28): 25943–25961. Published online 2015 Jul 31. doi: 10.18632/oncotarget.4671

PMCID:: PMC4694877

Abstract Article PDF–6.7M

Select item 377466711.

Performance Comparison of Bench-Top Next Generation Sequencers Using Microdroplet PCR-Based Enrichment for Targeted Sequencing in Patients with Autism Spectrum Disorder

Eriko Koshimizu, Satoko Miyatake, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto

PLoS One. 2013; 8(9): e74167. Published online 2013 Sep 16. doi: 10.1371/journal.pone.0074167

PMCID:: PMC3774667

Abstract Article PDF–173K

Select item 336670912.

Severe Intellectual Disability Associated with Recessive Defects in CNTNAP2 and NRXN1

C. Zweier

Mol Syndromol. 2012 Apr; 2(3-5): 181–185. Published online 2011 Sep 8. doi: 10.1159/000331270

PMCID:: PMC3366709

Abstract Article PDF–179K

Select item 332242713.

MAPT Isoforms: Differential Transcriptional Profiles Related to 3R and 4R Splice Variants

Shufen Chen, Kirk Townsend, Terry E. Goldberg, Peter Davies, Concepcion Conejero-Goldberg

J Alzheimers Dis. Author manuscript; available in PMC 2012 Apr 10.

Published in final edited form as: J Alzheimers Dis. 2010; 22(4): 1313–1329. doi: 10.3233/JAD-2010-101155

PMCID:: PMC3322427

Abstract Article PDF–1.2M

Select item 316251714.

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

Anne Gregor, Beate Albrecht, Ingrid Bader, Emilia K Bijlsma, Arif B Ekici, Hartmut Engels, Karl Hackmann, Denise Horn, Juliane Hoyer, Jakub Klapecki, Jürgen Kohlhase, Isabelle Maystadt, Sandra Nagl, Eva Prott, Sigrid Tinschert, Reinhard Ullmann, Eva Wohlleber, Geoffrey Woods, André Reis, Anita Rauch, Christiane Zweier

BMC Med Genet. 2011; 12: 106. Published online 2011 Aug 9. doi: 10.1186/1471-2350-12-106

PMCID:: PMC3162517

Abstract Article PDF–533K

Select item 302578115.

Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

Mandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, Steffen Uebe, Matthias Zenkel, Christian Y Mardin, Nicole Weisschuh, Daniela Paoli, Eugen Gramer, Christian Becker, Arif B Ekici, Bernhard HF Weber, Peter Nürnberg, Friedrich E Kruse, André Reis

Eur J Hum Genet. 2011 Feb; 19(2): 186–193. Published online 2010 Sep 1. doi: 10.1038/ejhg.2010.144

PMCID:: PMC3025781

Abstract Article PDF–707K

Select item 282350116.

SAFB1 Mediates Repression of Immune Regulators and Apoptotic Genes in Breast Cancer Cells

Stephanie Hammerich-Hille, Benny A. Kaipparettu, Anna Tsimelzon, Chad J. Creighton, Shiming Jiang, Jose M. Polo, Ari Melnick, Rene Meyer, Steffi Oesterreich

J Biol Chem. 2010 Feb 5; 285(6): 3608–3616. Published online 2009 Nov 9. doi: 10.1074/jbc.M109.066431

PMCID:: PMC2823501

Abstract Article PDF–1.4M

Select item 277583417.

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

Christiane Zweier, Eiko K. de Jong, Markus Zweier, Alfredo Orrico, Lilian B. Ousager, Amanda L. Collins, Emilia K. Bijlsma, Merel A.W. Oortveld, Arif B. Ekici, André Reis, Annette Schenck, Anita Rauch

Am J Hum Genet. 2009 Nov 13; 85(5): 655–666. doi: 10.1016/j.ajhg.2009.10.004

PMCID:: PMC2775834

Abstract Article PDF–1.1M

Select item 274370418.

Verification of genes differentially expressed in neuroblastoma tumours: a study of potential tumour suppressor genes

Kaisa Thorell, Annika Bergman, Helena Carén, Staffan Nilsson, Per Kogner, Tommy Martinsson, Frida Abel

BMC Med Genomics. 2009; 2: 53. Published online 2009 Aug 17. doi: 10.1186/1755-8794-2-53

PMCID:: PMC2743704

Abstract Article PDF–1.6M

Select item 257111219.

Genomics and proteomics of immune modulatory effects of a butanol fraction of echinacea purpurea in human dendritic cells

Chien-Yu Wang, Vanisree Staniforth, Ming-Tsang Chiao, Chia-Chung Hou, Han-Ming Wu, Kuo-Chen Yeh, Chun-Houh Chen, Pei-Ing Hwang, Tuan-Nan Wen, Lie-Fen Shyur, Ning-Sun Yang

BMC Genomics. 2008; 9: 479. Published online 2008 Oct 13. doi: 10.1186/1471-2164-9-479

PMCID:: PMC2571112

Abstract Article PDF–1.3M

Select item 225397420.

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

Betul Bakkaloglu, Brian J. O'Roak, Angeliki Louvi, Abha R. Gupta, Jesse F. Abelson, Thomas M. Morgan, Katarzyna Chawarska, Ami Klin, A. Gulhan Ercan-Sencicek, Althea A. Stillman, Gamze Tanriover, Brett S. Abrahams, Jackie A. Duvall, Elissa M. Robbins, Daniel H. Geschwind, Thomas Biederer, Murat Gunel, Richard P. Lifton, Matthew W. State

Am J Hum Genet. 2008 Jan 10; 82(1): 165–173. Published online 2008 Jan 5. doi: 10.1016/j.ajhg.2007.09.017

PMCID:: PMC2253974

Abstract Article PDF–1.0M

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