No Cover Image

Journal article 442 views 42 downloads

Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy / Andrew E. Fry; Elliott Rees; Rose Thompson; Kiran Mantripragada; Penny Blake; Glyn Jones; Sian Morgan; Sian Jose; Hood Mugalaasi; Hayley Archer; Emma McCann; Angus Clarke; Clare Taylor; Sally Davies; Frances Gibbon; Johann Te Water Naude; Louise Hartley; Gareth Thomas; Catharine White; Jaya Natarajan; Rhys H. Thomas; Cheney Drew; Seo-Kyung Chung; Mark I. Rees; Peter Holmans; Michael J. Owen; George Kirov; Daniela T. Pilz; Michael P. Kerr

BMC Medical Genetics, Volume: 17, Issue: 1

Swansea University Author: Rees, Mark

  • FryPathogenicCopyNumberVariants.pdf

    PDF | Version of Record

    This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.

    Download (416.14KB)
Published in: BMC Medical Genetics
ISSN: 1471-2350
Published: 2016
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa27423
Tags: Add Tag
No Tags, Be the first to tag this record!
first_indexed 2016-04-27T01:14:50Z
last_indexed 2018-02-09T05:10:31Z
id cronfa27423
recordtype SURis
fullrecord <?xml version="1.0"?><rfc1807><datestamp>2016-11-04T13:36:36Z</datestamp><bib-version>v2</bib-version><id>27423</id><entry>2016-04-26</entry><title>Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy</title><alternativeTitle></alternativeTitle><author>Mark Rees</author><firstname>Mark</firstname><surname>Rees</surname><active>true</active><ORCID/><ethesisStudent>false</ethesisStudent><sid>10f39a4e9c2ee00d453cd84c10667ac8</sid><email>7f0bfdbd334926ced539088ae92eb115</email><emailaddr>yeFyvVMT6rlDRRKXFB1YZdyvqZQRJmUl2lxhnzSZE7o=</emailaddr><date>2016-04-26</date><deptcode>PMSC</deptcode><abstract></abstract><type>Journal article</type><journal>BMC Medical Genetics</journal><volume>17</volume><journalNumber>1</journalNumber><paginationStart/><paginationEnd/><publisher></publisher><placeOfPublication/><isbnPrint/><isbnElectronic/><issnPrint/><issnElectronic>1471-2350</issnElectronic><keywords></keywords><publishedDay>0</publishedDay><publishedMonth>3</publishedMonth><publishedYear>2016</publishedYear><publishedDate>2016-03-01</publishedDate><doi>10.1186/s12881-016-0294-2</doi><url></url><notes></notes><college>Swansea University Medical School</college><department>Medicine</department><CollegeCode>CMED</CollegeCode><DepartmentCode>PMSC</DepartmentCode><institution/><researchGroup>Biomarkers and genes</researchGroup><supervisor/><sponsorsfunders/><grantnumber/><degreelevel/><degreename>None</degreename><lastEdited>2016-11-04T13:36:36Z</lastEdited><Created>2016-04-26T13:17:14Z</Created><path><level id="1">Swansea University Medical School</level><level id="2">Medicine</level></path><authors><author><firstname>Andrew E.</firstname><surname>Fry</surname><orcid/><order>1</order></author><author><firstname>Elliott</firstname><surname>Rees</surname><orcid/><order>2</order></author><author><firstname>Rose</firstname><surname>Thompson</surname><orcid/><order>3</order></author><author><firstname>Kiran</firstname><surname>Mantripragada</surname><orcid/><order>4</order></author><author><firstname>Penny</firstname><surname>Blake</surname><orcid/><order>5</order></author><author><firstname>Glyn</firstname><surname>Jones</surname><orcid/><order>6</order></author><author><firstname>Sian</firstname><surname>Morgan</surname><orcid/><order>7</order></author><author><firstname>Sian</firstname><surname>Jose</surname><orcid/><order>8</order></author><author><firstname>Hood</firstname><surname>Mugalaasi</surname><orcid/><order>9</order></author><author><firstname>Hayley</firstname><surname>Archer</surname><orcid/><order>10</order></author><author><firstname>Emma</firstname><surname>McCann</surname><orcid/><order>11</order></author><author><firstname>Angus</firstname><surname>Clarke</surname><orcid/><order>12</order></author><author><firstname>Clare</firstname><surname>Taylor</surname><orcid/><order>13</order></author><author><firstname>Sally</firstname><surname>Davies</surname><orcid/><order>14</order></author><author><firstname>Frances</firstname><surname>Gibbon</surname><orcid/><order>15</order></author><author><firstname>Johann</firstname><surname>Te Water Naude</surname><orcid/><order>16</order></author><author><firstname>Louise</firstname><surname>Hartley</surname><orcid/><order>17</order></author><author><firstname>Gareth</firstname><surname>Thomas</surname><orcid/><order>18</order></author><author><firstname>Catharine</firstname><surname>White</surname><orcid/><order>19</order></author><author><firstname>Jaya</firstname><surname>Natarajan</surname><orcid/><order>20</order></author><author><firstname>Rhys H.</firstname><surname>Thomas</surname><orcid/><order>21</order></author><author><firstname>Cheney</firstname><surname>Drew</surname><orcid/><order>22</order></author><author><firstname>Seo-Kyung</firstname><surname>Chung</surname><orcid/><order>23</order></author><author><firstname>Mark I.</firstname><surname>Rees</surname><orcid/><order>24</order></author><author><firstname>Peter</firstname><surname>Holmans</surname><orcid/><order>25</order></author><author><firstname>Michael J.</firstname><surname>Owen</surname><orcid/><order>26</order></author><author><firstname>George</firstname><surname>Kirov</surname><orcid/><order>27</order></author><author><firstname>Daniela T.</firstname><surname>Pilz</surname><orcid/><order>28</order></author><author><firstname>Michael P.</firstname><surname>Kerr</surname><orcid/><order>29</order></author></authors><documents><document><filename>0027423-25102016125314.pdf</filename><originalFilename>FryPathogenicCopyNumberVariants.pdf</originalFilename><uploaded>2016-10-25T12:53:14Z</uploaded><type>Output</type><contentLength>480761</contentLength><contentType>application/pdf</contentType><version>VoR</version><cronfaStatus>true</cronfaStatus><action>Updated Copyright</action><actionDate>04/11/2016</actionDate><embargoDate>2016-10-25T00:00:00</embargoDate><documentNotes>This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.</documentNotes><copyrightCorrect>true</copyrightCorrect><language/></document></documents></rfc1807>
spelling 2016-11-04T13:36:36Z v2 27423 2016-04-26 Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy Mark Rees Mark Rees true false 10f39a4e9c2ee00d453cd84c10667ac8 7f0bfdbd334926ced539088ae92eb115 yeFyvVMT6rlDRRKXFB1YZdyvqZQRJmUl2lxhnzSZE7o= 2016-04-26 PMSC Journal article BMC Medical Genetics 17 1 1471-2350 0 3 2016 2016-03-01 10.1186/s12881-016-0294-2 Swansea University Medical School Medicine CMED PMSC Biomarkers and genes None 2016-11-04T13:36:36Z 2016-04-26T13:17:14Z Swansea University Medical School Medicine Andrew E. Fry 1 Elliott Rees 2 Rose Thompson 3 Kiran Mantripragada 4 Penny Blake 5 Glyn Jones 6 Sian Morgan 7 Sian Jose 8 Hood Mugalaasi 9 Hayley Archer 10 Emma McCann 11 Angus Clarke 12 Clare Taylor 13 Sally Davies 14 Frances Gibbon 15 Johann Te Water Naude 16 Louise Hartley 17 Gareth Thomas 18 Catharine White 19 Jaya Natarajan 20 Rhys H. Thomas 21 Cheney Drew 22 Seo-Kyung Chung 23 Mark I. Rees 24 Peter Holmans 25 Michael J. Owen 26 George Kirov 27 Daniela T. Pilz 28 Michael P. Kerr 29 0027423-25102016125314.pdf FryPathogenicCopyNumberVariants.pdf 2016-10-25T12:53:14Z Output 480761 application/pdf VoR true Updated Copyright 04/11/2016 2016-10-25T00:00:00 This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. true
title Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
spellingShingle Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Rees, Mark
title_short Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
title_full Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
title_fullStr Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
title_full_unstemmed Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
title_sort Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
author_id_str_mv 10f39a4e9c2ee00d453cd84c10667ac8
author_id_fullname_str_mv 10f39a4e9c2ee00d453cd84c10667ac8_***_Rees, Mark
author Rees, Mark
author2 Andrew E. Fry
Elliott Rees
Rose Thompson
Kiran Mantripragada
Penny Blake
Glyn Jones
Sian Morgan
Sian Jose
Hood Mugalaasi
Hayley Archer
Emma McCann
Angus Clarke
Clare Taylor
Sally Davies
Frances Gibbon
Johann Te Water Naude
Louise Hartley
Gareth Thomas
Catharine White
Jaya Natarajan
Rhys H. Thomas
Cheney Drew
Seo-Kyung Chung
Mark I. Rees
Peter Holmans
Michael J. Owen
George Kirov
Daniela T. Pilz
Michael P. Kerr
format Journal article
container_title BMC Medical Genetics
container_volume 17
container_issue 1
publishDate 2016
institution Swansea University
issn 1471-2350
doi_str_mv 10.1186/s12881-016-0294-2
college_str Swansea University Medical School
hierarchytype
hierarchy_top_id swanseauniversitymedicalschool
hierarchy_top_title Swansea University Medical School
hierarchy_parent_id swanseauniversitymedicalschool
hierarchy_parent_title Swansea University Medical School
department_str Medicine{{{_:::_}}}Swansea University Medical School{{{_:::_}}}Medicine
document_store_str 1
active_str 1
researchgroup_str Biomarkers and genes
published_date 2016-03-01T14:37:42Z
_version_ 1645201759132450816
score 10.847392