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Author/Creator Bonthron, David T.

1. A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing. Issue 6 (4th October 2015)

Authors:
Poulter, James A.; Smith, Claire E. L.; Murrillo, Gina; Silva, Sandra; Feather, Sally; Howell, Marianella; Crinnion, Laura; Bonthron, David T.; Carr, Ian M.; Watson, Christopher M.; Inglehearn, Chris F.; Mighell, Alan J.
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 3:Issue 6(2015:Nov.)
Page Start:
543
Record Type:
Journal Article
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2. An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities. (3rd April 2019)

Authors:
Walker, Lesley; Watson, Christopher M.; Hewitt, Sarah; Crinnion, Laura A.; Bonthron, David T.; Cohen, Kelly E.
Journal:
Journal of obstetrics and gynaecology
Issue:
Volume 39:Number 3(2019)
Page Start:
328
Record Type:
Journal Article
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4. 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
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5. 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
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6. High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase. Issue 5 (8th October 2013)

Authors:
Ishimoto, Takuji; Lanaspa, Miguel A.; Rivard, Christopher J.; Roncal‐Jimenez, Carlos A.; Orlicky, David J.; Cicerchi, Christina; McMahan, Rachel H.; Abdelmalek, Manal F.; Rosen, Hugo R.; Jackman, Matthew R.; MacLean, Paul S.; Diggle, Christine P.; Asipu, Aruna; Inaba, Shinichiro; Kosugi, Tomoki; ...
Journal:
Hepatology
Issue:
Volume 58:Issue 5(2013:Nov.)
Page Start:
1632
Record Type:
Journal Article
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7. High‐fat and high‐sucrose (western) diet induces steatohepatitis that is dependent on fructokinase. Issue 5 (8th October 2013)

Authors:
Ishimoto, Takuji; Lanaspa, Miguel A.; Rivard, Christopher J.; Roncal‐Jimenez, Carlos A.; Orlicky, David J.; Cicerchi, Christina; McMahan, Rachel H.; Abdelmalek, Manal F.; Rosen, Hugo R.; Jackman, Matthew R.; MacLean, Paul S.; Diggle, Christine P.; Asipu, Aruna; Inaba, Shinichiro; Kosugi, Tomoki; ...
Journal:
Hepatology
Issue:
Volume 58:Issue 5(2013:Nov.)
Page Start:
1632
Record Type:
Journal Article
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10. 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
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