User talk:Melaniebrazil

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Reference Errors on 13 November

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References

We at Wikipedia love evidence-based medicine. Please cite high-quality reliable sources. We typically use review articles, major textbooks and position statements of national or international organizations. A list of resources to help edit such articles can be found here. The edit box has a build in citation tool to easily format references based on the PMID or ISBN. WP:MEDHOW walks through editing step by step. We also provide style advice about the structure and content of medicine-related encyclopedia articles. The welcome page is another good place to learn about editing the encyclopedia. If you have any questions, please feel free to drop me a note. Doc James (talk · contribs · email) 19:41, 14 November 2014 (UTC)[reply]

Primary sources

Extended content
More recent exome and genome sequencing studies have begun to reveal a number of de novo gene mutations that are responsible for some epileptic encephalopathies, including CHD2 and SYNGAP1 ^[1] ^[2] ^[3] and DMN1, GABBR2, FASN and RYR3.^[4]

These are all primary sources. Is there a secondary source that covers this? Doc James (talk · contribs · email) 19:41, 14 November 2014 (UTC)[reply]

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^ Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S Møller, Deepak Gill, Danielle M Andrade, Jeremy L Freeman, Lynette G Sadleir, Jay Shendure, Samuel F Berkovic, Ingrid E Scheffer & Heather C Mefford (2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2, SYNGAP1". Nature Genet. 45: 825–830. PMC 3704157. PMID 3704157. {{cite journal}}: horizontal tab character in |author= at position 17 (help)CS1 maint: multiple names: authors list (link)
^ Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". J Neurodev Disord. 6: 9. PMC 4022362. PMID 24834135.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium (2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". Am J Hum Genet. 93: 967-975. PMC 3824114. PMID 24207121.{{cite journal}}: CS1 maint: multiple names: authors list (link)
^ EuroEPINOMICS-RES Consortium (2014). "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies". Am J Hum Genet. 95: 360–370. PMC 4185114. PMID 25262651.

[1] Gemma L Carvill, Sinéad B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M E Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S Møller, Deepak Gill, Danielle M Andrade, Jeremy L Freeman, Lynette G Sadleir, Jay Shendure, Samuel F Berkovic, Ingrid E Scheffer & Heather C Mefford (2013). "Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2, SYNGAP1". Nature Genet. 45: 825–830. PMC 3704157. PMID 3704157. {{cite journal}}: horizontal tab character in |author= at position 17 (help)CS1 maint: multiple names: authors list (link)

[2] Chénier S, Yoon G, Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, Ogilvie CM, Lionel AC, Marshall CR, Vaags AK, Hashemi B, Boisvert K, Mathonnet G, Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems". J Neurodev Disord. 6: 9. PMC 4022362. PMID 24834135.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[3] Suls A, Jaehn JA, Kecskés A, Weber Y, Weckhuysen S, Craiu DC, Siekierska A, Djémié T, Afrikanova T, Gormley P, von Spiczak S, Kluger G, Iliescu CM, Talvik T, Talvik I, Meral C, Caglayan HS, Giraldez BG, Serratosa J, Lemke JR, Hoffman-Zacharska D, Szczepanik E, Barisic N, Komarek V, Hjalgrim H, Møller RS, Linnankivi T, Dimova P, Striano P, Zara F, Marini C, Guerrini R, Depienne C, Baulac S, Kuhlenbäumer G, Crawford AD, Lehesjoki AE, de Witte PA, Palotie A, Lerche H, Esguerra CV, De Jonghe P, Helbig I; EuroEPINOMICS RES Consortium (2013). "De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome". Am J Hum Genet. 93: 967-975. PMC 3824114. PMID 24207121.{{cite journal}}: CS1 maint: multiple names: authors list (link)

[4] EuroEPINOMICS-RES Consortium (2014). "De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies". Am J Hum Genet. 95: 360–370. PMC 4185114. PMID 25262651.

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