תוצאות חיפוש - Wakeling, Matthew

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

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