Resultados da busca - Wakeling, Matthew

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

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Misannotation of multiple-nucleotide variants risks misdiagnosis por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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 por 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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