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Author/Creator Seal, Sheila

1. CSN and CAVA: variant annotation tools for rapid, robust next-generation sequencing analysis in the clinical setting. Issue 1 (December 2015)

Authors:
Münz, Márton; Ruark, Elise; Renwick, Anthony; Ramsay, Emma; Clarke, Matthew; Mahamdallie, Shazia; Cloke, Victoria; Seal, Sheila; Strydom, Ann; Lunter, Gerton; Rahman, Nazneen
Journal:
Genome medicine
Issue:
Volume 7:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. Identification of new Wilms tumour predisposition genes: an exome sequencing study. (May 2019)

Authors:
Mahamdallie, Shazia; Yost, Shawn; Poyastro-Pearson, Emma; Holt, Esty; Zachariou, Anna; Seal, Sheila; Elliott, Anna; Clarke, Matthew; Warren-Perry, Margaret; Hanks, Sandra; Anderson, John; Bomken, Simon; Cole, Trevor; Farah, Roula; Furtwaengler, Rhoikos; Glaser, Adam; Grundy, Richard; Hayden, Jame...
Journal:
Lancet
Issue:
Volume 3:Number 5(2019)
Page Start:
322
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013)

Authors:
Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
2972
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype. Issue 12 (8th November 2013)

Authors:
Tatton‐Brown, Katrina; Murray, Anne; Hanks, Sandra; Douglas, Jenny; Armstrong, Ruth; Banka, Siddharth; Bird, Lynne M.; Clericuzio, Carol L.; Cormier‐Daire, Valerie; Cushing, Tom; Flinter, Frances; Jacquemont, Marie‐Line; Joss, Shelagh; Kinning, Esther; Lynch, Sally Ann; Magee, Alex; McConnell, Vi...
Journal:
American journal of medical genetics
Issue:
Volume 161:Issue 12(2013:Dec.)
Page Start:
2972
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗