Improved genetic testing for monogenic diabetes using targeted next-generation sequencing by Ellard, S., Lango Allen, H., De Franco, E., Flanagan, S. E., Hysenaj, G., Colclough, K., Houghton, J. A. L., Shepherd, M., Hattersley, A. T., Weedon, M. N., Caswell, R.

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia by Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S

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Improved genetic testing for monogenic diabetes using targeted next-generation sequencing by ELLARD, S, LANGO ALLEN, H, CASWELL, R, DE FRANCO, E, FLANAGAN, S. E, HYSENAJ, G, COLCLOUGH, K, HOUGHTON, J. A. L, SHEPHERD, M, HATTERSLEY, A. T, WEEDON, M. N

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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia: FLANAGAN et al by Flanagan, SE, Vairo, F, Johnson, MB, Caswell, R, Laver, TW, Lango Allen, H, Hussain, K, Ellard, S

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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development by De Franco, Elisa, Watson, Rachel A., Weninger, Wolfgang J., Wong, Chi C., Flanagan, Sarah E., Caswell, Richard, Green, Angela, Tudor, Catherine, Lelliott, Christopher J., Geyer, Stefan H., Maurer-Gesek, Barbara, Reissig, Lukas F., Lango Allen, Hana, Caliebe, Almuth, Siebert, Reiner, Holterhus, Paul Martin, Deeb, Asma, Prin, Fabrice, Hilbrands, Robert, Heimberg, Harry, Ellard, Sian, Hattersley, Andrew T., Barroso, Inês

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Allen, Hana Lango, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans by Tuijnenburg, Paul, Jansen, Machiel H., Carss, Keren J., Baxendale, Helen, Chandra, Anita, Seneviratne, Suranjith L., Oksenhendler, Eric, Tool, Anton T.J., Whitehorn, Deborah, Turro, Ernest, Thaventhiran, James E., Kuijpers, Taco W., Adhya, Zoe, Anantharachagan, Ariharan, Arumugakani, Gururaj, Bacchelli, Chiara, Baxendale, Helen, Bibi, Shahnaz, Booth, Claire, Browning, Michael, Burns, Siobhan, Clifford, Hayley, Cooper, Nichola, Davies, Sophie, Devlin, Lisa, Edgar, David, Egner, William, Ghurye, Rohit, Gilmour, Kimberley, Goddard, Sarah, Gordins, Pavel, Hackett, Scott, Hague, Rosie, Hayman, Grant, Jolles, Stephen, Jones, Julie, Kelleher, Peter, Klein, Nigel, Kuijpers, Taco, Kumararatne, Dinakantha, Laffan, James, Lango Allen, Hana, Lear, Sara, Longhurst, Hilary, Maimaris, Jesmeen, McDermott, Elizabeth, Morrisson, Valerie, Nasir, Iman, Noorani, Sadia, Oksenhendler, Eric, Ponsford, Mark, Qasim, Waseem, Quinn, Ellen, Quinti, Isabella, Samarghitean, Crina, Savic, Sinisa, Seneviratne, Suranjith, Simeoni, Ilenia, Staples, Emily, Steele, Cathal, Thaventhiran, James, Thomas, Moira, Thrasher, Adrian, Worth, Austen, Yong, Patrick, Bradley, John, Hammerton, Tracey, Ouwehand, Willem, Raymond, F Lucy, Veltman, Marijke, Clements-Brod, Naomi, Davis, John, Dewhurst, Eleanor, Erwood, Marie, Frary, Amy, Linger, Rachel, Papadia, Sofia, Rehnstrom, Karola, Astle, William, Attwood, Antony, Bleda, Marta, Carss, Keren, Daugherty, Louise, Deevi, Sri, Graf, Stefan, Greene, Daniel, Halmagyi, Csaba, Matser, Vera, Meacham, Stuart, Megy, Karyn, Shamardina, Olga, Titterton, Catherine, Tuna, Salih, Turro, Ernest, von Ziegenweldt, Julie, Furnell, Abigail, Staines, Simon, Stephens, Jonathan, Whitehorn, Deborah, Watt, Christopher

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Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children by French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy

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Germline selection shapes human mitochondrial DNA diversity by Wei, Wei, Tuna, Salih, Keogh, Michael J, Smith, Katherine R, Aitman, Timothy J, Beales, Phil L, Bennett, David L, Gale, Daniel P, Bitner-Glindzicz, Maria A K, Black, Graeme C, Brennan, Paul, Elliott, Perry, Flinter, Frances A, Floto, R Andres, Houlden, Henry, Irving, Melita, Koziell, Ania, Maher, Eamonn R, Markus, Hugh S, Morrell, Nicholas W, Newman, William G, Roberts, Irene, Sayer, John A, Smith, Kenneth G C, Taylor, Jenny C, Watkins, Hugh, Webster, Andrew R, Wilkie, Andrew O M, Williamson, Catherine, Ashford, Sofie, Penkett, Christopher J, Stirrups, Kathleen E, Rendon, Augusto, Ouwehand, Willem H, Bradley, John R, Raymond, F Lucy, Caulfield, Mark, Turro, Ernest, Chinnery, Patrick F

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Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2 by Cabezas, Oscar Rubio, Flanagan, Sarah E, Stanescu, Horia, García-Martínez, Elena, Caswell, Richard, Lango-Allen, Hana, Antón-Gamero, Montserrat, Argente, Jesús, Bussell, Anna-Marie, Brandli, Andre, Cheshire, Chris, Crowne, Elizabeth, Dumitriu, Simona, Drynda, Robert, Hamilton-Shield, Julian P, Hayes, Wesley, Hofherr, Alexis, Iancu, Daniela, Issler, Naomi, Jefferies, Craig, Jones, Peter, Johnson, Matthew, Kesselheim, Anne, Klootwijk, Enriko, Koettgen, Michael, Lewis, Wendy, Martos, José María, Mozere, Monika, Norman, Jill, Patel, Vaksha, Parrish, Andrew, Pérez-Cerdá, Celia, Pozo, Jesús, Rahman, Sofia A, Sebire, Neil, Tekman, Mehmet, Turnpenny, Peter D, Hoff, William Van't, Viering, Daan H H M, Weedon, Michael N, Wilson, Patricia, Guay-Woodford, Lisa, Kleta, Robert, Hussain, Khalid, Ellard, Sian, Bockenhauer, Detlef

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Pathogenic NFKB2 variant in the ankyrin repeat domain (R635X) causes a variable antibody deficiency by Tuijnenburg, Paul, Lango Allen, Hana, de Bree, Godelieve J., Savic, Sinisa, Jansen, Machiel H., Stockdale, Claire, Simeoni, Ilenia, ten Berge, Ineke J.M., van Leeuwen, Ester M.M., Thaventhiran, James E., Kuijpers, Taco W.

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene by Kuijpers, Taco W., de Vries, Andrica C. H., van Leeuwen, Ester M., Ermens, A. (Ton) A. M., de Pont, Saskia, Smith, Desirée E. C., Wamelink, Mirjam M. C., Mensenkamp, Arjen R., Nelen, Marcel R., Lango Allen, Hana, Pals, Steven T., Beverloo, Berna H. B., Huidekoper, Hidde H., Wagner, Anja

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Copy number variation of LINGO1 in familial dystonic tremor by 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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Erratum: Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus by Sansbury, Francis H, Kirel, Birgül, Caswell, Richard, Lango Allen, Hana, Flanagan, Sarah E, Hattersley, Andrew T, Ellard, Sian, Shaw-Smith, Charles J

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