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Matthew Wakeling

Showing results (1-10 of 14) with videos related to

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Bioinformatics (Oxford, England)|September 14, 2020
Annotating high-impact 5'untranslated region variants with the UTRannotatorXiaolei Zhang, Matthew Wakeling, James Ware, et al.
ACS Catalysis|July 5, 2023
Nickel-Catalyzed 1,1-Aminoborylation of Unactivated Terminal AlkenesLaura Talavera, Robert R A Freund, Huihui Zhang, et al.
Wellcome Open Research|December 4, 2018
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesElise Ruark, Esty Holt, Anthony Renwick, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Bioinformatics (Oxford, England)|October 2, 2012
InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological dataRichard N Smith, Jelena Aleksic, Daniela Butano, et al.
Diabetes|January 27, 2021
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum StressHossam Montaser, Kashyap A Patel, Diego Balboa, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
Genome Biology|July 7, 2007
FlyMine: an integrated database for Drosophila and Anopheles genomicsRachel Lyne, Richard Smith, Kim Rutherford, et al.
HGG Advances|May 19, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodCourtney E French, Helen Dolling, Karyn Mégy, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Bioinformatics (Oxford, England)|September 14, 2020
Annotating high-impact 5'untranslated region variants with the UTRannotatorXiaolei Zhang, Matthew Wakeling, James Ware, et al.
ACS Catalysis|July 5, 2023
Nickel-Catalyzed 1,1-Aminoborylation of Unactivated Terminal AlkenesLaura Talavera, Robert R A Freund, Huihui Zhang, et al.
Wellcome Open Research|December 4, 2018
ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation seriesElise Ruark, Esty Holt, Anthony Renwick, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasiaLettie E Rawlins, Hannah Jones, Olivia Wenger, et al.
Bioinformatics (Oxford, England)|October 2, 2012
InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological dataRichard N Smith, Jelena Aleksic, Daniela Butano, et al.
Diabetes|January 27, 2021
Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum StressHossam Montaser, Kashyap A Patel, Diego Balboa, et al.
HGG Advances|February 4, 2021
Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndromeEmma Wakeling, Meriel McEntagart, Michael Bruccoleri, et al.
Genome Biology|July 7, 2007
FlyMine: an integrated database for Drosophila and Anopheles genomicsRachel Lyne, Richard Smith, Kim Rutherford, et al.
HGG Advances|May 19, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhoodCourtney E French, Helen Dolling, Karyn Mégy, et al.
Neurology. Genetics|March 8, 2019
Copy number variation of <i>LINGO1</i> in familial dystonic tremorVafa Alakbarzade, Thomas Iype, Barry A Chioza, et al.
Pageof 2