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David R Bentley

Showing results (21-30 of 46) with videos related to

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Haematologica|May 30, 2013
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type IChristian Babbs, Nigel A Roberts, Luis Sanchez-Pulido, et al.
BMC Medical Genomics|January 30, 2025
A dedicated caller for DUX4 rearrangements from whole-genome sequencing dataPascal Grobecker, Stefano Berri, John F Peden, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentFabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'Fabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
Leukemia|December 22, 2022
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trialClaire Schwab, Ruth E Cranston, Sarra L Ryan, et al.
Leukemia|January 19, 2023
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemiaSarra L Ryan, John F Peden, Zoya Kingsbury, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Science Translational Medicine|June 8, 2012
A validated tumorgraft model reveals activity of dovitinib against renal cell carcinomaSharanya Sivanand, Samuel Peña-Llopis, Hong Zhao, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Haematologica|May 30, 2013
Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type IChristian Babbs, Nigel A Roberts, Luis Sanchez-Pulido, et al.
BMC Medical Genomics|January 30, 2025
A dedicated caller for DUX4 rearrangements from whole-genome sequencing dataPascal Grobecker, Stefano Berri, John F Peden, et al.
European Journal of Human Genetics : EJHG|February 13, 2014
Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairmentFabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
NPJ Genomic Medicine|February 23, 2019
Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in MexicoAlicia Scocchia, Kristen M Wigby, Diane Masser-Frye, et al.
European Journal of Human Genetics : EJHG|December 25, 2014
Reply to Pembrey et al: 'ZNF277 microdeletions, specific language impairment and the meiotic mismatch methylation (3M) hypothesis'Fabiola Ceroni, Nuala H Simpson, Clyde Francks, et al.
Leukemia|December 22, 2022
Integrative genomic analysis of childhood acute lymphoblastic leukaemia lacking a genetic biomarker in the UKALL2003 clinical trialClaire Schwab, Ruth E Cranston, Sarra L Ryan, et al.
Leukemia|January 19, 2023
Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemiaSarra L Ryan, John F Peden, Zoya Kingsbury, et al.
Genome Biology|April 30, 2020
ExpansionHunter Denovo: a computational method for locating known and novel repeat expansions in short-read sequencing dataEgor Dolzhenko, Mark F Bennett, Phillip A Richmond, et al.
Science Translational Medicine|June 8, 2012
A validated tumorgraft model reveals activity of dovitinib against renal cell carcinomaSharanya Sivanand, Samuel Peña-Llopis, Hong Zhao, et al.
Bioinformatics (Oxford, England)|May 29, 2019
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regionsEgor Dolzhenko, Viraj Deshpande, Felix Schlesinger, et al.
Pageof 5