Výsledky vyhledávání - Wakeling, Matthew

Annotating high-impact 5′untranslated region variants with the UTRannotator Autor Zhang, Xiaolei, Wakeling, Matthew, Ware, James, Whiffin, Nicola

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Misannotation of multiple-nucleotide variants risks misdiagnosis Autor Wakeling, Matthew N., Laver, Thomas W., Colclough, Kevin, Parish, Andrew, Ellard, Sian, Baple, Emma L.

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ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series Autor Ruark, Elise, Holt, Esty, Renwick, Anthony, Münz, Márton, Wakeling, Matthew, Ellard, Sian, Mahamdallie, Shazia, Yost, Shawn, Rahman, Nazneen

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Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia Autor Laver, Thomas W., Wakeling, Matthew N., Hua, Janet Hong Yeow, Houghton, Jayne A. L., Hussain, Khalid, Ellard, Sian, Flanagan, Sarah E.

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Balancing Bulkiness in Gold(I) Phosphino‐triazole Catalysis Autor Zhao, Yiming, Wakeling, Matthew G., Meloni, Fernanda, Sum, Tze Jing, van Nguyen, Huy, Buckley, Benjamin R., Davies, Paul W., Fossey, John S.

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SavvyCNV: Genome-wide CNV calling from off-target reads Autor Laver, Thomas W., De Franco, Elisa, Johnson, Matthew B., Patel, Kashyap A., Ellard, Sian, Weedon, Michael N., Flanagan, Sarah E., Wakeling, Matthew N.

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Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY Autor Laver, Thomas W., Wakeling, Matthew N., Knox, Olivia, Colclough, Kevin, Wright, Caroline F., Ellard, Sian, Hattersley, Andrew T., Weedon, Michael N., Patel, Kashyap A.

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Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease Autor Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian

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Correction: Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease Autor Wakeling, Matthew Neil, Laver, Thomas William, Wright, Caroline Fiona, De Franco, Elisa, Stals, Karen Lucy, Patch, Ann-Marie, Hattersley, Andrew Tym, Flanagan, Sarah Elizabeth, Ellard, Sian

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An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia Autor Rawlins, Lettie E., Jones, Hannah, Wenger, Olivia, Aye, Myat, Fasham, James, Harlalka, Gaurav V., Chioza, Barry A., Miron, Alexander, Ellard, Sian, Wakeling, Matthew, Crosby, Andrew H., Baple, Emma L.

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Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated Autor Johnson, Matthew B., De Franco, Elisa, Greeley, Siri Atma W., Letourneau, Lisa R., Gillespie, Kathleen M., Wakeling, Matthew N., Ellard, Sian, Flanagan, Sarah E., Patel, Kashyap A., Hattersley, Andrew T.

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InterMine: a flexible data warehouse system for the integration and analysis of heterogeneous biological data Autor Smith, Richard N., Aleksic, Jelena, Butano, Daniela, Carr, Adrian, Contrino, Sergio, Hu, Fengyuan, Lyne, Mike, Lyne, Rachel, Kalderimis, Alex, Rutherford, Kim, Stepan, Radek, Sullivan, Julie, Wakeling, Matthew, Watkins, Xavier, Micklem, Gos

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De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction Autor De Franco, Elisa, Caswell, Richard, Johnson, Matthew B, Wakeling, Matthew N, Zung, Amnon, Chí Dũng, Vũ, Bích Ngọc, Cấn Thị, Goonetilleke, Rajiv, Vivanco Jury, Maritza, El-Khateeb, Mohammed, Ellard, Sian, Flanagan, Sarah E, Ron, David, Hattersley, Andrew T

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Loss of MANF Causes Childhood-Onset Syndromic Diabetes Due to Increased Endoplasmic Reticulum Stress Autor Montaser, Hossam, Patel, Kashyap A., Balboa, Diego, Ibrahim, Hazem, Lithovius, Väinö, Näätänen, Anna, Chandra, Vikash, Demir, Korcan, Acar, Sezer, Ben-Omran, Tawfeg, Colclough, Kevin, Locke, Jonathan M., Wakeling, Matthew, Lindahl, Maria, Hattersley, Andrew T., Saarimäki-Vire, Jonna, Otonkoski, Timo

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FlyMine: an integrated database for Drosophila and Anopheles genomics Autor Lyne, Rachel, Smith, Richard, Rutherford, Kim, Wakeling, Matthew, Varley, Andrew, Guillier, Francois, Janssens, Hilde, Ji, Wenyan, Mclaren, Peter, North, Philip, Rana, Debashis, Riley, Tom, Sullivan, Julie, Watkins, Xavier, Woodbridge, Mark, Lilley, Kathryn, Russell, Steve, Ashburner, Michael, Mizuguchi, Kenji, Micklem, Gos

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Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood Autor French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy

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Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome Autor Wakeling, Emma, McEntagart, Meriel, Bruccoleri, Michael, Shaw-Smith, Charles, Stals, Karen L., Wakeling, Matthew, Barnicoat, Angela, Beesley, Clare, Hanson-Kahn, Andrea K., Kukolich, Mary, Stevenson, David A., Campeau, Philippe M., Ellard, Sian, Elsea, Sarah H., Yang, Xiang-Jiao, Caswell, Richard C.

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Copy number variation of LINGO1 in familial dystonic tremor Autor Alakbarzade, Vafa, Iype, Thomas, Chioza, Barry A., Singh, Royana, Harlalka, Gaurav V., Hardy, Holly, Sreekantan-Nair, Ajith, Proukakis, Christos, Peall, Kathryn, Clark, Lorraine N., Caswell, Richard, Lango Allen, Hana, Wakeling, Matthew, Chilton, John K., Baple, Emma L., Louis, Elan D., Warner, Thomas T., Crosby, Andrew H.

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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome Autor Banerjee, Indraneel, Senniappan, Senthil, Laver, Thomas W., Caswell, Richard, Zenker, Martin, Mohnike, Klaus, Cheetham, Tim, Wakeling, Matthew N., Ismail, Dunia, Lennerz, Belinda, Splitt, Miranda, Berberoğlu, Merih, Empting, Susann, Wabitsch, Martin, Pötzsch, Simone, Shah, Pratik, Siklar, Zeynep, Verge, Charles F., Weedon, Michael N., Ellard, Sian, Hussain, Khalid, Flanagan, Sarah E.

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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus Autor Iacovazzo, Donato, Flanagan, Sarah E., Walker, Emily, Quezado, Rosana, de Sousa Barros, Fernando Antonio, Caswell, Richard, Johnson, Matthew B., Wakeling, Matthew, Brändle, Michael, Guo, Min, Dang, Mary N., Gabrovska, Plamena, Niederle, Bruno, Christ, Emanuel, Jenni, Stefan, Sipos, Bence, Nieser, Maike, Frilling, Andrea, Dhatariya, Ketan, Chanson, Philippe, de Herder, Wouter W., Konukiewitz, Björn, Klöppel, Günter, Stein, Roland, Korbonits, Márta, Ellard, Sian

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