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Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus Maroofian, Reza; Pagnamenta, Alistair T.; Navabazam, Alireza; Schwessinger, Ron; Roberts, Hannah E.; Lopopolo, Maria; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Haerian, Alireza; Soltanianzadeh, Mojtaba; Kooshki, Mohammad Hadi Noori; Knight, Samantha J. L.; Miller, Kerry A.; McGowan, Simon J.; Chatron, Nicolas; Timberlake, Andrew T.; Melo, Uira Souto; Mundlos, Stefan; Buck, David; Twigg, Stephen R. F.; Taylor, Jenny C.; Wilkie, Andrew O. M.; Calpena, Eduardo 分享 收藏
BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome Miller, Kerry A.; Cruz Walma, David A.; Pinkas, Daniel M.; Tooze, Rebecca S.; Bufton, Joshua C.; Richardson, William; Manning, Charlotte E.; Hunt, Alice E.; Cros, Julien; Hartill, Verity; Parker, Michael J.; Mcgowan, Simon J.; Twigg, Stephen R. F.; Chalk, Rod; Staunton, David; Johnson, David; Wilkie, Andrew O. M.; Bullock, Alex N. 分享 收藏
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design Tolonen, Jussi Pekka; Parolin Schnekenberg, Ricardo; McGowan, Simon; Sims, David; McEntagart, Meriel; Elmslie, Frances; Shears, Debbie; Stewart, Helen; Tofaris, George K.; Dabir, Tabib; Morrison, Patrick J.; Johnson, Diana; Hadjivassiliou, Marios; Ellard, Sian; Shaw-Smith, Charles; Znaczko, Anna; Dixit, Abhijit; Suri, Mohnish; Sarkar, Ajoy; Harrison, Rachel E.; Jones, Gabriela; Houlden, Henry; Ceravolo, Giorgia; Jarvis, Joanna; Williams, Jonathan; Shanks, Morag E.; Clouston, Penny; Rankin, Julia; Blumkin, Lubov; Lerman-Sagie, Tally; Ponger, Penina; Raskin, Salmo; Granath, Katariina; Uusimaa, Johanna; Conti, Hector; McCann, Emma; Joss, Shelagh; Blakes, Alexander J. M.; Metcalfe, Kay; Kingston, Helen; Bertoli, Marta; Kneen, Rachel; Lynch, Sally Ann; Martinez Albaladejo, Inmaculada; Moore, Austen Peter; Jones, Wendy D.; Becker, Esther B. E.; Nemeth, Andrea H. 分享 收藏
Single cell spatial analysis reveals inflammatory foci of immature neutrophil and CD8 T cells in COVID-19 lungs 单细胞空间分析揭示新型冠状病毒肺炎肺中不成熟中性粒细胞和CD8 T细胞的炎症灶 Weeratunga, Praveen; Denney, Laura; Bull, Joshua A.; Repapi, Emmanouela; Sergeant, Martin; Etherington, Rachel; Vuppussetty, Chaitanya; Turner, Gareth D. H.; Clelland, Colin; Woo, Jeongmin; Cross, Amy; Issa, Fadi; de Andrea, Carlos Eduardo; Melero Bermejo, Ignacio; Sims, David; McGowan, Simon; Zurke, Yasemin-Xiomara; Ahern, David J.; Gamez, Eddie C.; Whalley, Justin; Richards, Duncan; Klenerman, Paul; Monaco, Claudia; Udalova, Irina A.; Dong, Tao; Antanaviciute, Agne; Ogg, Graham; Knight, Julian C.; Byrne, Helen M.; Taylor, Stephen; Ho, Ling-Pei 分享 收藏
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance Tooze, Rebecca S.; Miller, Kerry A.; Swagemakers, Sigrid M. A.; Calpena, Eduardo; McGowan, Simon J.; Boute, Odile; Collet, Corinne; Johnson, David; Laffargue, Fanny; de Leeuw, Nicole; Morton, Jenny V.; Noons, Peter; Ockeloen, Charlotte W.; Phipps, Julie M.; Tan, Tiong Yang; Timberlake, Andrew T.; Vanlerberghe, Clemence; Wall, Steven A.; Weber, Astrid; Wilson, Louise C.; Zackai, Elaine H.; Mathijssen, Irene M. J.; Twigg, Stephen R. F.; Wilkie, Andrew O. M. 分享 收藏
Dissection of contiguous gene effects for deletions around ERF on chromosome 19 Calpena, Eduardo; McGowan, Simon J.; Blanco Kelly, Fiona; Boudry-Labis, Elise; Dieux-Coeslier, Anne; Harrison, Rachel; Johnson, Diana; Lachlan, Katherine; Morton, Jenny E. V.; Stewart, Helen; Vasudevan, Pradeep; Twigg, Stephen R. F.; Wilkie, Andrew O. M. 分享 收藏
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J.; Atique, Rodrigo; Bertola, Debora R.; Cunningham, Michael L.; Gustafson, Jonas A.; Johnson, David; Morton, Jenny E., V; Passos-Bueno, Maria Rita; Timberlake, Andrew T.; Lifton, Richard P.; Wall, Steven A.; Twigg, Stephen R. F.; Maire, Pascal; Wilkie, Andrew O. M. 分享 收藏
Patient-derived malignant pleural mesothelioma cell cultures: a tool to advance biomarker-driven treatments 患者来源的恶性胸膜间皮瘤细胞培养: 推进生物标志物驱动治疗的工具 Kanellakis, Nikolaos, I; Asciak, Rachelle; Hamid, Megat Abd; Yao, Xuan; McCole, Mark; McGowan, Simon; Seraia, Elena; Hatch, Stephanie; Hallifax, Rob J.; Mercer, Rachel M.; Bedawi, Eihab O.; Jones, Stephanie; Verrill, Clare; Dobson, Melissa; George, Vineeth; Stathopoulos, Georgios T.; Peng, Yanchun; Ebner, Daniel; Dong, Tao; Rahman, Najib M.; Psallidas, Ioannis 分享 收藏
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation (vol 33, pg 751, 2020) Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E. V.; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boardman-Pretty, Freya; Boyadjiev, Simeon A.; Wilkie, Andrew O. M. 分享 收藏
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation Calpena, Eduardo; Cuellar, Araceli; Bala, Krithi; Swagemakers, Sigrid M. A.; Koelling, Nils; McGowan, Simon J.; Phipps, Julie M.; Balasubramanian, Meena; Cunningham, Michael L.; Douzgou, Sofia; Lattanzi, Wanda; Morton, Jenny E., V; Shears, Deborah; Weber, Astrid; Wilson, Louise C.; Lord, Helen; Lester, Tracy; Johnson, David; Wall, Steven A.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Boyadjiev, Simeon A.; Wilkie, Andrew O. M. 分享 收藏
Patient derived pleural mesothelioma cell lines, can be used as tools, to guide patient stratification Kanellakis, Nikolaos I.; Asciak, Rachelle; Yao, Xuan; Peng, Yanchun; Mccole, Mark; Mcgowan, Simon; Mercer, Rachel; Hallifax, Rob; Sherrill, Taylor; Maldonado, Fabien; Ebner, Daniel; Blackwell, Timothy S.; Stathopoulos, Georgios T.; Dong, Tao; Rahman, Najib M.; Psallidas, Loannis 分享 收藏
A Comprehensive Analysis of Key Immune Checkpoint Receptors on Tumor-Infiltrating T Cells From Multiple Types of Cancer 多种癌症肿瘤浸润T细胞上关键免疫检查点受体的综合分析 Li, Xi; Wang, Rouzheng; Fan, Peiwen; Yao, Xuan; Qin, Ling; Peng, Yanchun; Ma, Miaomiao; Asley, Neil; Chang, Xuimei; Feng, Yaning; Hu, Yunhui; Zhang, Yonghong; Li, Chris; Fanning, Gregory; Jones, Stephanie; Verrill, Clare; Maldonado-Perez, David; Sopp, Paul; Waugh, Craig; Taylor, Stephen; Mcgowan, Simon; Cerundolo, Vincenzo; Conlon, Christopher; McMichael, Andrew; Lu, Shichun; Wang, Xiyan; Li, Ning; Dong, Tao 分享 收藏
Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing Rodriguez-Meira, Alba; Buck, Gemma; Clark, Sally-Ann; Povinelli, Benjamin J.; Alcolea, Veronica; Louka, Eleni; McGowan, Simon; Hamblin, Angela; Sousos, Nikolaos; Barkas, Nikolaos; Giustacchini, Alice; Psaila, Bethan; Jacobsen, Sten Eirik W.; Thongjuea, Supat; Mead, Adam J. 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
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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder Reijnders, Margot R. F.; Miller, Kerry A.; Alvi, Mohsan; Goos, Jacqueline A. C.; Lees, Melissa M.; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert B. A.; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia A. L.; Wieczorek, Dagmar; Baralle, Diana; Blair, Edward M.; Engels, Hartmut; Luedecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs W. E.; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M.; Cremer, Kirsten; Strom, Tim M.; Bird, Lynne M.; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F.; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L.; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S.; Edery, Patrick; Yap, Patrick; Terhal, Paulien A.; van der Spek, Peter J.; Lakeman, Phillis; Taylor, Rachel L.; Littlejohn, Rebecca O.; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander P. A.; Kant, Sarina G.; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid M. A.; Douzgou, Sofia; Wall, Steven A.; Kury, Sebastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J.; Twigg, Stephen R. F.; Mathijssen, Irene M. J.; Nellaker, Christoffer; Brunner, Han G.; Wilkie, Andrew O. M. 分享 收藏
Sequencing of human genomes extracted from single cancer cells isolated in a valveless microfluidic device Marie, Rodolphe; Podenphant, Marie; Koprowska, Kamila; Baerlocher, Loic; Vulders, Roland C. M.; Wilding, Jennifer; Ashley, Neil; McGowan, Simon J.; van Strijp, Dianne; van Hemert, Freek; Olesen, Tom; Agersnap, Niels; Bilenberg, Brian; Sabatel, Celine; Schira, Julien; Kristensen, Anders; Bodmer, Walter; van der Zaag, Pieter J.; Mir, Kalim U. 分享 收藏
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