Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems
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| Published in | American journal of human genetics Vol. 96; no. 1; p. 178 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Elsevier Inc
08.01.2015
Elsevier |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0002-9297 1537-6605 |
| DOI | 10.1016/j.ajhg.2014.12.019 |
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| Author | Willaert, Andy Zweier, Christiane Carvill, Gemma L. Menten, Björn Huggenvik, Jodi I. Raghavan, Ramya Newhall, Kathryn J. Rajamanickam, Shivakumar Hoischen, Alexander Cai, Xiang Ownby, Stacy L. de Brouwer, Arjan P.M. de Vries, Bert B.A. de Vries, Petra F. Lugtenberg, Dorien Vulto-van Silfhout, Anneke T. Brunner, Han G. Reardon, Sara N. Collard, Michael W. Veltman, Joris A. Vergult, Sarah McIntyre, Tara Eichler, Evan E. Bulinski, Joseph Rauch, Anita Vissers, Lisenka E.L.M. Jarrett, Kelsey Jensik, Philip J. Endele, Sabine Rose, Gregory M. de Rocker, Nina de Ligt, Joep McKnight, G. Stanley van Bokhoven, Hans Mefford, Heather C. van Bon, Bregje W.M. |
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| Cites_doi | 10.1038/ng.3050 10.1038/nature13394 10.1111/epi.12554 10.1038/ng.3129 |
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| Copyright | 2015 The American Society of Human Genetics 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2015 The American Society of Human Genetics |
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| References | Samocha, Robinson, Sanders, Stevens, Sabo, McGrath, Kosmicki, Rehnström, Mallick, Kirby (bib2) 2014; 46 Baasch, Hüning, Gilissen, Klepper, Veltman, Gillessen-Kaesbach, Hoischen, Lohmann (bib1) 2014; 55 Feenstra, Pasternak, Geller, Carstensen, Wang, Huang, Eitson, Hollegaard, Svanström, Vestergaard (bib3) 2014; 46 Gilissen, Hehir-Kwa, Thung, van de Vorst, van Bon, Willemsen, Kwint, Janssen, Hoischen, Schenck (bib4) 2014; 511 Baasch (10.1016/j.ajhg.2014.12.019_bib1) 2014; 55 Gilissen (10.1016/j.ajhg.2014.12.019_bib4) 2014; 511 Samocha (10.1016/j.ajhg.2014.12.019_bib2) 2014; 46 Feenstra (10.1016/j.ajhg.2014.12.019_bib3) 2014; 46 |
| References_xml | – volume: 511 start-page: 344 year: 2014 end-page: 347 ident: bib4 article-title: Genome sequencing identifies major causes of severe intellectual disability publication-title: Nature – volume: 46 start-page: 1274 year: 2014 end-page: 1282 ident: bib3 article-title: Common variants associated with general and MMR vaccine-related febrile seizures publication-title: Nat. Genet. – volume: 55 start-page: e25 year: 2014 end-page: e29 ident: bib1 article-title: Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities publication-title: Epilepsia – volume: 46 start-page: 944 year: 2014 end-page: 950 ident: bib2 article-title: A framework for the interpretation of de novo mutation in human disease publication-title: Nat. Genet. – volume: 46 start-page: 944 year: 2014 ident: 10.1016/j.ajhg.2014.12.019_bib2 article-title: A framework for the interpretation of de novo mutation in human disease publication-title: Nat. Genet. doi: 10.1038/ng.3050 – volume: 511 start-page: 344 year: 2014 ident: 10.1016/j.ajhg.2014.12.019_bib4 article-title: Genome sequencing identifies major causes of severe intellectual disability publication-title: Nature doi: 10.1038/nature13394 – volume: 55 start-page: e25 year: 2014 ident: 10.1016/j.ajhg.2014.12.019_bib1 article-title: Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities publication-title: Epilepsia doi: 10.1111/epi.12554 – volume: 46 start-page: 1274 year: 2014 ident: 10.1016/j.ajhg.2014.12.019_bib3 article-title: Common variants associated with general and MMR vaccine-related febrile seizures publication-title: Nat. Genet. doi: 10.1038/ng.3129 |
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| Title | Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems |
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