The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study von De Franco, Elisa, PhD, Flanagan, Sarah E, PhD, Houghton, Jayne AL, PhD, Allen, Hana Lango, PhD, Mackay, Deborah JG, PhD, Temple, I Karen, Prof, Ellard, Sian, Prof, Hattersley, Andrew T, Prof

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Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans von Cytlak, Urszula, Resteu, Anastasia, Pagan, Sarah, Green, Kile, Milne, Paul, Maisuria, Sheetal, McDonald, David, Hulme, Gillian, Filby, Andrew, Carpenter, Benjamin, Queen, Rachel, Hambleton, Sophie, Hague, Rosie, Lango Allen, Hana, Thaventhiran, James E.D., Doody, Gina, Collin, Matthew, Bigley, Venetia

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Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease von Flanagan, Sarah E, Haapaniemi, Emma, Russell, Mark A, Caswell, Richard, Allen, Hana Lango, De Franco, Elisa, McDonald, Timothy J, Rajala, Hanna, Ramelius, Anita, Barton, John, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Kajosaari, Merja, Murphy, Nuala P, Milenkovic, Tatjana, Seppänen, Mikko, Lernmark, Åke, Mustjoki, Satu, Otonkoski, Timo, Kere, Juha, Morgan, Noel G, Ellard, Sian, Hattersley, Andrew T

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GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health von Zhao, Yajie, Stankovic, Stasa, Koprulu, Mine, Wheeler, Eleanor, Day, Felix R., Lango Allen, Hana, Kerrison, Nicola D., Pietzner, Maik, Loh, Po-Ru, Wareham, Nicholas J., Langenberg, Claudia, Ong, Ken K., Perry, John R. B.

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Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes von Johnson, Matthew B, De Franco, Elisa, Lango Allen, Hana, Al Senani, Aisha, Elbarbary, Nancy, Siklar, Zeynep, Berberoglu, Merih, Imane, Zineb, Haghighi, Alireza, Razavi, Zahra, Ullah, Irfan, Alyaarubi, Saif, Gardner, Daphne, Ellard, Sian, Hattersley, Andrew T, Flanagan, Sarah E

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Thousands of missing variants in the UK Biobank are recoverable by genome realignment von Jia, Tongqiu, Munson, Brenton, Lango Allen, Hana, Ideker, Trey, Majithia, Amit R.

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GATA4 Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes von SHAW-SMITH, Charles, DE FRANCO, Elisa, MIEDZYBRODZKA, Zosia, DEJA, Grazyna, WLODARSKA, Iwona, MLYNARSKI, Wojciech, FERRER, Jorge, HATTERSLEY, Andrew T, ELLARD, Sian, ALLEN, Hana Lango, BATLLE, Marta, FLANAGAN, Sarah E, BOROWIEC, Maciej, TAPLIN, Craig E, VAN ALFEN-VAN DER VELDEN, Janiëlle, CRUZ-ROJO, Jaime, PEREZ DE NANCLARES, Guiomar

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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development von 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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Analysis of Transcription Factors Key for Mouse Pancreatic Development Establishes NKX2-2 and MNX1 Mutations as Causes of Neonatal Diabetes in Man von Flanagan, Sarah E., De Franco, Elisa, Lango Allen, Hana, Zerah, Michele, Abdul-Rasoul, Majedah M., Edge, Julie A., Stewart, Helen, Alamiri, Elham, Hussain, Khalid, Wallis, Sam, de Vries, Liat, Rubio-Cabezas, Oscar, Houghton, Jayne A.L., Edghill, Emma L., Patch, Ann-Marie, Ellard, Sian, Hattersley, Andrew T.

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Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitus von 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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Detection and characterization of male sex chromosome abnormalities in the UK Biobank study von Zhao, Yajie, Gardner, Eugene J, Tuke, Marcus A, Zhang, Huairen, Pietzner, Maik, Koprulu, Mine, Jia, Raina Y, Ruth, Katherine S, Wood, Andrew R, Beaumont, Robin N, Tyrrell, Jessica, Jones, Samuel E, Lango Allen, Hana, Day, Felix R, Langenberg, Claudia, Frayling, Timothy M, Weedon, Michael N, Perry, John R B, Ong, Ken K, Murray, Anna

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Predicting the Occurrence of Variants in RAG1 and RAG2 von Lawless, Dylan, Lango Allen, Hana, Thaventhiran, James, Hodel, Flavia, Anwar, Rashida, Fellay, Jacques, Walter, Jolan E., Savic, Sinisa

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Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing von Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian

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Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency von Lawless, Dylan, Geier, Christoph B., Farmer, Jocelyn R., Lango Allen, Hana, Thwaites, Daniel, Atschekzei, Faranaz, Brown, Matthew, Buchbinder, David, Burns, Siobhan O., Butte, Manish J., Csomos, Krisztian, Deevi, Sri V.V., Egner, William, Ehl, Stephan, Eibl, Martha M., Fadugba, Olajumoke, Foldvari, Zsofia, Green, Deanna M., Henrickson, Sarah E., Holland, Steven M., John, Tami, Klemann, Christian, Kuijpers, Taco W., Moreira, Fernando, Piller, Alexander, Rayner-Matthews, Paula, Romberg, Neil D., Sargur, Ravishankar, Schmidt, Reinhold E., Schröder, Claudia, Schuetz, Catharina, Sharapova, Svetlana O., Smith, Ken G.C., Sogkas, Georgios, Speckmann, Carsten, Stirrups, Kathleen, Thrasher, Adrian J., Wolf, Hermann M., Notarangelo, Luigi D., Anwar, Rashida, Boyes, Joan, Ujhazi, Boglarka, Thaventhiran, James, Walter, Jolan E., Savic, Sinisa

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GATA6 haploinsufficiency causes pancreatic agenesis in humans von Allen, Hana Lango, Flanagan, Sarah E, Shaw-Smith, Charles, De Franco, Elisa, Akerman, Ildem, Caswell, Richard, Ferrer, Jorge, Hattersley, Andrew T, Ellard, Sian

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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 von 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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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses von Spencer, Sarah, Köstel Bal, Sevgi, Egner, William, Lango Allen, Hana, Raza, Syed I, Ma, Chi A, Gürel, Meltem, Zhang, Yuan, Sun, Guangping, Sabroe, Ruth A, Greene, Daniel, Rae, William, Shahin, Tala, Kania, Katarzyna, Ardy, Rico Chandra, Thian, Marini, Staples, Emily, Pecchia-Bekkum, Annika, Worrall, William P M, Stephens, Jonathan, Brown, Matthew, Tuna, Salih, York, Melanie, Shackley, Fiona, Kerrin, Diarmuid, Sargur, Ravishankar, Condliffe, Alison, Tipu, Hamid Nawaz, Kuehn, Hye Sun, Rosenzweig, Sergio D, Turro, Ernest, Tavaré, Simon, Thrasher, Adrian J, Jodrell, Duncan Ian, Smith, Kenneth G C, Boztug, Kaan, Milner, Joshua D, Thaventhiran, James E D

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Polygenic Risk Variants for Type 2 Diabetes Susceptibility Modify Age at Diagnosis in Monogenic HNF1A Diabetes von HANA LANGO ALLEN, JOHANSSON, Stefan, HATTERSLEY, Andrew T, WEEDON, Michael N, ELLARD, Sian, SHIELDS, Beverley, HERTEL, Jens K, RAEDER, Helge, COLCLOUGH, Kevin, MOLVEN, Anders, FRAYLING, Timothy M, NJØLSTAD, Pål R

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Recessive mutations in a distal PTF1A enhancer cause isolated pancreatic agenesis von Weedon, Michael N, Cebola, Inês, Patch, Ann-Marie, Flanagan, Sarah E, De Franco, Elisa, Caswell, Richard, Rodríguez-Seguí, Santiago A, Shaw-Smith, Charles, Cho, Candy H-H, Allen, Hana Lango, Houghton, Jayne A L, Roth, Christian L, Chen, Rongrong, Hussain, Khalid, Marsh, Phil, Vallier, Ludovic, Murray, Anna, Ellard, Sian, Ferrer, Jorge, Hattersley, Andrew T

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An exome sequencing strategy to diagnose lethal autosomal recessive disorders von Ellard, Sian, Kivuva, Emma, Turnpenny, Peter, Stals, Karen, Johnson, Matthew, Xie, Weijia, Caswell, Richard, Lango Allen, Hana

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