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Practical challenges for functional validation of STAT1 gain of function genetic variants Albuquerque, Adriana S.; Maimaris, Jesmeen; McKenna, Alexander J.; Lambourne, Jonathan; Moreira, Fernando; Workman, Sarita; Megy, Karyn; Simeoni, Ilenia; Allen, Hana Lango; NIHR BioResource-Rare Dis Consortium; Morris, Emma C.; Burns, Siobhan O. 分享 收藏
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications CLDN5的变异引起以癫痫、小头畸形和脑钙化为特征的综合征 Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna 分享 收藏
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the DHFR gene Kuijpers, Taco W.; de Vries, Andrica C. H.; van Leeuwen, Ester M.; Ermens, A. (Ton) A. M.; de Pont, Saskia; Smith, Desiree E. C.; Wamelink, Mirjam M. C.; Mensenkamp, Arjen R.; Nelen, Marcel R.; Allen, Hana Lango; Pals, Steven T.; Beverloo, Berna H. B.; Huidekoper, Hidde H.; Wagner, Anja 分享 收藏
Detection and characterization of male sex chromosome abnormalities in the UK Biobank study 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.; Allen, Hana Lango; Day, Felix R.; Langenberg, Claudia; Frayling, Timothy M.; Weedon, Michael N.; Perry, John R. B.; Ong, Ken K.; Murray, Anna 分享 收藏
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations TRAF3突变的人的免疫缺陷，自身免疫和b细胞恶性肿瘤的风险增加 Rae, William; Sowerby, John M.; Verhoeven, Dorit; Youssef, Mariam; Kotagiri, Prasanti; Savinykh, Natalia; Coomber, Eve L.; Boneparth, Alexis; Chan, Angela; Gong, Chun; Jansen, Machiel H.; du Long, Romy; Santilli, Giorgia; Simeoni, Ilenia; Stephens, Jonathan; Wu, Kejia; Zinicola, Marta; Allen, Hana Lango; Baxendale, Helen; Kumararatne, Dinakantha; Gkrania-Klotsas, Effrossyni; Mendoza, Selma C. Scheffler; Yamazaki-Nakashimada, Marco Antonio; Ruiz, Laura Berron; Rojas-Maruri, Cesar Mauricio; Reyes, Saul O. Lugo; Lyons, Paul A.; Williams, Anthony P.; Hodson, Daniel J.; Bishop, Gail A.; Thrasher, Adrian J.; Thomas, David C.; Murphy, Michael P.; Vyse, Timothy J.; Milner, Joshua D.; Kuijpers, Taco W.; Smith, Kenneth G. C. 分享 收藏
GIGYF1 loss of function is associated with clonal mosaicism and adverse metabolic health GIGYF1功能丧失与克隆嵌合体和不良代谢健康有关 Zhao, Yajie; Stankovic, Stasa; Koprulu, Mine; Wheeler, Eleanor; Day, Felix R.; Allen, Hana Lango; Kerrison, Nicola D.; Pietzner, Maik; Loh, Po-Ru; Wareham, Nicholas J.; Langenberg, Claudia; Ong, Ken K.; Perry, John R. B. 分享 收藏
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations Lorenzini, Tiziana; Fliegauf, Manfred; Klammer, Nils; Frede, Natalie; Proietti, Michele; Bulashevska, Alla; Camacho-Ordonez, Nadezhda; Varjosalo, Markku; Kinnunen, Matias; de Vries, Esther; van der Meer, Jos W. M.; Ameratunga, Rohan; Roifman, Chaim M.; Schejter, Yael D.; Kobbe, Robin; Hautala, Timo; Atschekzei, Faranaz; Schmidt, Reinhold E.; Schroeder, Claudia; Stepensky, Polina; Shadur, Bella; Pedroza, Luis A.; van der Flier, Michiel; Martinez-Gallo, Monica; Gonzalez-Granado, Luis Ignacio; Allende, Luis M.; Shcherbina, Anna; Kuzmenko, Natalia; Zakharova, Victoria; Neves, Joao Farela; Svec, Peter; Fischer, Ute; Ip, Winnie; Bartsch, Oliver; Baris, Safa; Klein, Christoph; Geha, Raif; Chou, Janet; Alosaimi, Mohammed; Weintraub, Lauren; Boztug, Kaan; Hirschmugl, Tatjana; Dos Santos Vilela, Maria Marluce; Holzinger, Dirk; Seidl, Maximilian; Lougaris, Vassilios; Plebani, Alessandro; Alsina, Laia; Piquer-Gibert, Monica; Deya-Martinez, Angela; Slade, Charlotte A.; Aghamohammadi, Asghar; Abolhassani, Hassan; Hammarstrom, Lennart; Kuismin, Outi; Helminen, Merja; Allen, Hana Lango; Thaventhiran, James E.; Freeman, Alexandra F.; Cook, Matthew; Bakhtiar, Shahrzad; Christiansen, Mette; Cunningham-Rundles, Charlotte; Patel, Niraj C.; Rae, William; Niehues, Tim; Brauer, Nina; Syrjanen, Jaana; Seppanen, Mikko R. J.; Burns, Siobhan O.; Tuijnenburg, Paul; Kuijpers, Taco W.; Warnatz, Klaus; Grimbacher, Bodo 分享 收藏
Differential IRF8 Transcription Factor Requirement Defines Two Pathways of Dendritic Cell Development in Humans 差异IRF8转录因子需求定义了人类树突状细胞发育的两种途径 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; Allen, Hana Lango; Thaventhiran, James E. D.; Doody, Gina; Collin, Matthew; Bigley, Venetia 分享 收藏
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Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses Spencer, Sarah; Bal, Sevgi Koestel; Egner, William; Allen, Hana Lango; Raza, Syed I.; Ma, Chi A.; Gurel, 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; Tavare, Simon; Thrasher, Adrian J.; Jodrell, Duncan Ian; Smith, Kenneth G. C.; Boztug, Kaan; Milner, Joshua D.; Thaventhiran, James E. D. 分享 收藏
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development 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.; Allen, Hana Lango; Caliebe, Almuth; Siebert, Reiner; Holterhus, Paul Martin; Deeb, Asma; Prin, Fabrice; Hilbrands, Robert; Heimberg, Harry; Ellard, Sian; Hattersley, Andrew T.; Barroso, Ines 分享 收藏
Copy number variation of LINGO1 in familial dystonic tremor 家族性肌张力障碍性震颤中LINGO1的拷贝数变异 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; Allen, Hana Lango; Wakeling, Matthew; Chilton, John K.; Baple, Emma L.; Louis, Elan D.; Warner, Thomas T.; Crosby, Andrew H. 分享 收藏
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans Tuijnenburg, Paul; Allen, Hana Lango; Burns, Siobhan O.; Greene, Daniel; Jansen, Machiel H.; Staples, Emily; Stephens, Jonathan; Carss, Keren J.; Biasci, Daniele; Baxendale, Helen; Thomas, Moira; Chandra, Anita; Kiani-Alikhan, Sorena; Longhurst, Hilary J.; Seneviratne, Suranjith L.; Oksenhendler, Eric; Simeoni, Ilenia; de Bree, Godelieve J.; Tool, Anton T. J.; van Leeuwen, Ester M. M.; Ebberink, Eduard H. T. M.; Meijer, Alexander B.; Tuna, Salih; Whitehorn, Deborah; Brown, Matthew; Turro, Ernest; Thrasher, Adrian J.; Smith, Kenneth G. C.; Thaventhiran, James E.; Kuijpers, Taco W. 分享 收藏
Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (vol 8, 1300, 2018) Farmery, James H. R.; Smith, Mike L.; Lynch, Andy G.; Huissoon, Aarnoud; Furnell, Abigail; Mead, Adam; Levine, Adam P.; Manzur, Adnan; Thrasher, Adrian; Greenhalgh, Alan; Parker, Alasdair; Sanchis-Juan, Alba; Richter, Alex; Gardham, Alice; Lawrie, Allan; Sohal, Aman; Creaser-Myers, Amanda; Frary, Amy; Greinacher, Andreas; Themistocleous, Andreas; Peacock, Andrew J.; Marshall, Andrew; Mumford, Andrew; Rice, Andrew; Webster, Andrew; Brady, Angie; Koziell, Ania; Manson, Ania; Chandra, Anita; Hensiek, Anke; in't Veld, Anna Huis; Maw, Anna; Kelly, Anne M.; Moore, Anthony; Noordegraaf, Anton Vonk; Attwood, Antony; Herwadkar, Archana; Ghofrani, Ardi; Houweling, Arjan C.; Girerd, Barbara; Furie, Bruce; Treacy, Carmen M.; Millar, Carolyn M.; Sewell, Carrock; Roughley, Catherine; Titterton, Catherine; Williamson, Catherine; Hadinnapola, Charaka; Deshpande, Charu; Toh, Cheng-Hock; Bacchelli, Chiara; Patch, Chris; Van Geet, Chris; Babbs, Christian; Bryson, Christine; Penkett, Christopher J.; Rhodes, Christopher J.; Watt, Christopher; Bethune, Claire; Booth, Claire; Lentaigne, Claire; McJannet, Coleen; Church, Colin; French, Courtney; Samarghitean, Crina; Halmagyi, Csaba; Gale, Daniel; Greene, Daniel; Hart, Daniel; Allsup, David; Bennett, David; Edgar, David; Kiely, David G.; Gosal, David; Perry, David J.; Keeling, David; Montani, David; Shipley, Debbie; Whitehorn, Deborah; Fletcher, Debra; Krishnakumar, Deepa; Grozeva, Detelina; Kumararatne, Dinakantha; Thompson, Dorothy; Josifova, Dragana; Maher, Eamonn; Wong, Edwin K. S.; Murphy, Elaine; Dewhurst, Eleanor; Louka, Eleni; Rosser, Elisabeth; Chalmers, Elizabeth; Colby, Elizabeth; Drewe, Elizabeth; McDermott, Elizabeth; Thomas, Ellen; Staples, Emily; Clement, Emma; Matthews, Emma; Wakeling, Emma; Oksenhendler, Eric; Turro, Ernest; Reid, Evan; Wassmer, Evangeline; Raymond, F. Lucy; Hu, Fengyuan; Kennedy, Fiona; Soubrier, Florent; Flinter, Frances; Kovacs, Gabor; Polwarth, Gary; Ambegaonkar, Gautum; Arno, Gavin; Hudson, Gavin; Woods, Geoff; Coghlan, Gerry; Hayman, Grant; Arumugakani, Gururaj; Schotte, Gwen; Cook, H. Terry; Alachkar, Hana; Allen, Hana Lango; Lango-Allen, Hana; Stark, Hannah; Stauss, Hans; Schulze, Harald; Boggard, Harm J.; Baxendale, Helen; Dolling, Helen; Firth, Helen; Gall, Henning; Watson, Henry; Longhurst, Hilary; Markus, Hugh S.; Watkins, Hugh; Simeoni, Ilenia; Emmerson, Ingrid; Roberts, Irene; Quinti, Isabella; Wanjiku, Ivy; Gibbs, J. Simon R.; Thaventhiran, James; Whitworth, James; Hurst, Jane; Collins, Janine; Suntharalingam, Jay; Payne, Jeanette; Thachil, Jecko; Martin, Jennifer M.; Martin, Jennifer; Carmichael, Jenny; Maimaris, Jesmeen; Paterson, Joan; Pepke-Zaba, Joanna; Heemskerk, Johan W. M.; Gebhart, Johanna; Davis, John; Pasi, John; Bradley, John R.; Wharton, John; Stephens, Jonathan; Rankin, Julia; Anderson, Julie; Vogt, Julie; von Ziegenweldt, Julie; Rehnstrom, Karola; Megy, Karyn; Talks, Kate; Peerlinck, Kathelijne; Yates, Katherine; Freson, Kathleen; Stirrups, Kathleen; Gomez, Keith; Smith, Kenneth G. C.; Carss, Keren; Rue-Albrecht, Kevin; Gilmour, Kimberley; Masati, Larahmie; Scelsi, Laura; Southgate, Laura; Ranganathan, Lavanya; Ginsberg, Lionel; Devlin, Lisa; Willcocks, Lisa; Ormondroyd, Liz; Lorenzo, Lorena; Harper, Lorraine; Allen, Louise; Daugherty, Louise; Chitre, Manali; Kurian, Manju; Humbert, Marc; Tischkowitz, Marc; Bitner-Glindzicz, Maria; Erwood, Marie; Scully, Marie; Veltman, Marijke; Caulfield, Mark; Layton, Mark; McCarthy, Mark; Ponsford, Mark; Toshner, Mark; Bleda, Marta; Wilkins, Martin; Mathias, Mary; Reilly, Mary; Afzal, Maryam; Brown, Matthew; Rondina, Matthew; Stubbs, Matthew; Haimel, Matthias; Lees, Melissa; Laffan, Michael A.; Browning, Michael; Gattens, Michael; Richards, Michael; Michaelides, Michel; Lambert, Michele P.; Makris, Mike; De Vries, Minka; Mahdi-Rogers, Mohamed; Saleem, Moin; Thomas, Moira; Holder, Muriel; Eyries, Melanie; Clements-Brod, Naomi; Canham, Natalie; Dormand, Natalie; Van Zuydam, Natalie; Kingston, Nathalie; Ghali, Neeti; Cooper, Nichola; Morrell, Nicholas W.; Yeatman, Nigel; Roy, Noemi; Shamardina, Olga; Alavijeh, Omid S.; Gresele, Paolo; Nurden, Paquita; Chinnery, Patrick; Deegan, Patrick; Yong, Patrick; Yu-Wai-Man, Patrick; Corris, Paul A.; Calleja, Paul; Gissen, Paul; Bolton-Maggs, Paula; Rayner-Matthews, Paula; Ghataorhe, Pavandeep K.; Gordins, Pavel; Stein, Penelope; Collins, Peter; Dixon, Peter; Kelleher, Peter; Ancliff, Phil; Yu, Ping; Tait, R. Campbell; Linger, Rachel; Doffinger, Rainer; Machado, Rajiv; Kazmi, Rashid; Sargur, Ravishankar; Favier, Remi; Tan, Rhea; Liesner, Ri; Antrobus, Richard; Sandford, Richard; Scott, Richard; Trembath, Richard; Horvath, Rita; Hadden, Rob; MackenzieRoss, Rob V.; Henderson, Robert; MacLaren, Robert; James, Roger; Ghurye, Rohit; DaCosta, Rosa; Hague, Rosie; Mapeta, Rutendo; Armstrong, Ruth; Noorani, Sadia; Murng, Sai; Santra, Saikat; Tuna, Salih; Johnson, Sally; Chong, Sam; Lear, Sara; Walker, Sara; Goddard, Sarah; Mangles, Sarah; Westbury, Sarah; Mehta, Sarju; Hackett, Scott; Nejentsev, Sergey; Moledina, Shahin; Bibi, Shahnaz; Meehan, Sharon; Othman, Shokri; Revel-Vilk, Shoshana; Holden, Simon; McGowan, Simon; Staines, Simon; Savic, Sinisa; Burns, Siobhan; Grigoriadou, Sofia; Papadia, Sofia; Ashford, Sofie; Schulman, Sol; Ali, Sonia; Park, Soo-Mi; Davies, Sophie; Stock, Sophie; Ali, Souad; Deevi, Sri V. V.; Graf, Stefan; Ghio, Stefano; Wort, Stephen J.; Jolles, Stephen; Austin, Steve; Welch, Steve; Meacham, Stuart; Rankin, Stuart; Walker, Suellen; Seneviratne, Suranjith; Holder, Susan; Sivapalaratnam, Suthesh; Richardson, Sylvia; Kuijpers, Taco; Kuijpers, Taco W.; Bariana, Tadbir K.; Bakchoul, Tamam; Everington, Tamara; Renton, Tara; Young, Tim; Aitman, Timothy; Warner, Timothy Q.; Vale, Tom; Hammerton, Tracey; Pollock, Val; Matser, Vera; Cookson, Victoria; Clowes, Virginia; Qasim, Waseem; Wei, Wei; Erber, Wendy N.; Ouwehand, Willem H.; Astle, William; Egner, William; Turek, Wojciech; Henskens, Yvonne; Tan, Yvonne 分享 收藏
Prevalence and clinical challenges among adults with primary immunodeficiency and recombination-activating gene deficiency Lawless, Dylan; Geier, Christoph B.; Farmer, Jocelyn R.; Allen, Hana Lango; 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.; Schroder, 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 分享 收藏
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes (vol 66, pg 2316, 2017) Johnson, Matthew B.; De Franco, Elisa; Allen, Hana Lango; Al Senani, Aisha; Elbarbary, Nancy; Siklar, Zeynep; Berberoglu, Merih; Imane, Zineb; Haghighi, Alireza; Razavi, Zahra; Ullah, Irfan; Alyaarubi, Saif; Gardner, Daphne; Guven, Ayla; Ellard, Sian; Hattersley, Andrew T.; Flanagan, Sarah E. 分享 收藏
Recessively Inherited LRBA Mutations Cause Autoimmunity Presenting as Neonatal Diabetes Johnson, Matthew B.; De Franco, Elisa; Allen, Hana Lango; Al Senani, Aisha; Elbarbary, Nancy; Siklar, Zeynep; Berberoglu, Merih; Imane, Zineb; Haghighi, Alireza; Razavi, Zahra; Ullah, Irfan; Alyaarubi, Saif; Gardner, Daphne; Guven, Ayla; Ellard, Sian; Hattersley, Andrew T.; Flanagan, Sarah E. 分享 收藏
A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia Flanagan, S. E.; Vairo, F.; Johnson, M. B.; Caswell, R.; Laver, T. W.; Allen, H. Lango; Hussain, K.; Ellard, S. 分享 收藏
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