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Author/Creator Harrison, Sally M.

1. Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. Issue 10 (16th July 2014)

Authors:
Watson, Christopher M.; Crinnion, Laura A.; Tzika, Antigoni; Mills, Alison; Coates, Andrea; Pendlebury, Maria; Hewitt, Sarah; Harrison, Sally M.; Daly, Catherine; Roberts, Paul; Carr, Ian M.; Sheridan, Eamonn G.; Bonthron, David T.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2649
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Diagnostic whole genome sequencing and split‐read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome. Issue 10 (16th July 2014)

Authors:
Watson, Christopher M.; Crinnion, Laura A.; Tzika, Antigoni; Mills, Alison; Coates, Andrea; Pendlebury, Maria; Hewitt, Sarah; Harrison, Sally M.; Daly, Catherine; Roberts, Paul; Carr, Ian M.; Sheridan, Eamonn G.; Bonthron, David T.
Journal:
American journal of medical genetics
Issue:
Volume 164:Issue 10(2014.)
Page Start:
2649
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data. Issue 9 (22nd July 2015)

Authors:
Watson, Christopher M.; Crinnion, Laura A.; Gurgel‐Gianetti, Juliana; Harrison, Sally M.; Daly, Catherine; Antanavicuite, Agne; Lascelles, Carolina; Markham, Alexander F.; Pena, Sergio D. J.; Bonthron, David T.; Carr, Ian M.
Journal:
Human mutation
Issue:
Volume 36:Issue 9(2015:Sep.)
Page Start:
823
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Robust Diagnostic Genetic Testing Using Solution Capture Enrichment and a Novel Variant‐Filtering Interface. Issue 4 (April 2014)

Authors:
Watson, Christopher M.; Crinnion, Laura A.; Morgan, Joanne E.; Harrison, Sally M.; Diggle, Christine P.; Adlard, Julian; Lindsay, Helen A.; Camm, Nick; Charlton, Ruth; Sheridan, Eamonn; Bonthron, David T.; Taylor, Graham R.; Carr, Ian M.
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
434
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Simple and Efficient Identification of Rare Recessive Pathologically Important Sequence Variants from Next Generation Exome Sequence Data. Issue 7 (29th April 2013)

Authors:
Carr, Ian M.; Morgan, Joanne; Watson, Christopher; Melnik, Svitlana; Diggle, Christine P.; Logan, Clare V.; Harrison, Sally M.; Taylor, Graham R.; Pena, Sergio D.J.; Markham, Alexander F.; Alkuraya, Fowzan S.; Black, Graeme C.M.; Ali, Manir; Bonthron, David T.
Journal:
Human mutation
Issue:
Volume 34:Issue 7(2013:Jul.)
Page Start:
945
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗