Search Results - Wakeling, Matthew N

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

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Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia by 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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SavvyCNV: Genome-wide CNV calling from off-target reads by 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 by 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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Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated by 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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De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction by 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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Refinement of the critical genomic region for congenital hyperinsulinism in the Chromosome 9p deletion syndrome by 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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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism by Wakeling, Matthew N., Owens, Nick D. L., Hopkinson, Jessica R., Johnson, Matthew B., Houghton, Jayne A.L., Dastamani, Antonia, Flaxman, Christine S., Wyatt, Rebecca C., Hewat, Thomas I., Hopkins, Jasmin J., Laver, Thomas W., van Heugten, Rachel, Weedon, Michael N., De Franco, Elisa, Patel, Kashyap A., Ellard, Sian, Morgan, Noel G., Cheesman, Edmund, Banerjee, Indraneel, Hattersley, Andrew T., Dunne, Mark J., Richardson, Sarah J., Flanagan, Sarah E.

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YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress by De Franco, Elisa, Lytrivi, Maria, Ibrahim, Hazem, Montaser, Hossam, Wakeling, Matthew N., Fantuzzi, Federica, Patel, Kashyap, Demarez, Céline, Cai, Ying, Igoillo-Esteve, Mariana, Cosentino, Cristina, Lithovius, Väinö, Vihinen, Helena, Jokitalo, Eija, Laver, Thomas W., Johnson, Matthew B., Sawatani, Toshiaki, Shakeri, Hadis, Pachera, Nathalie, Haliloglu, Belma, Ozbek, Mehmet Nuri, Unal, Edip, Yıldırım, Ruken, Godbole, Tushar, Yildiz, Melek, Aydin, Banu, Bilheu, Angeline, Suzuki, Ikuo, Flanagan, Sarah E., Vanderhaeghen, Pierre, Senée, Valérie, Julier, Cécile, Marchetti, Piero, Eizirik, Decio L., Ellard, Sian, Saarimäki-Vire, Jonna, Otonkoski, Timo, Cnop, Miriam, Hattersley, Andrew T.

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Biallelic PI4KA variants cause neurological, intestinal and immunological disease by Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogli, Andrea, Zara, Federico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo P, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Ward Melver, Catherine, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew N, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin, Valcheva, Deyana, Deal, Christin, Van Meerbeke, Sara, Walsh Vockley, Catherine, Butte, Manish J, Acar, Utkucan, van der Knaap, Marjo S, Korenke, G Christoph, Kotzaeridou, Urania, Balla, Tamas, Simons, Cas, Uhlig, Holm H, Crosby, Andrew H, De Camilli, Pietro, Wolf, Nicole I, Baple, Emma L

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