未登录 Biallelic GLTP mutations cause nonsyndromic epidermal differentiation disorder via disrupted epidermal glucosylceramide transport 双等位基因GLTP突变通过破坏表皮糖基鞘脂转运导致非综合征性表皮分化障碍 Zhang, Zeqiao; Huang, Shimiao; Jackson, Adam; Jones, Elizabeth A.; Banka, Siddharth; Yang, Chao; Zhao, Sisi; Lv, Kunlun; Peng, Sha; Lin, Zhimiao; Wang, Huijun 分享 收藏
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 Jackson, Adam; Lin, Sheng-Jia; Jones, Elizabeth A.; Chandler, Kate E.; Orr, David; Moss, Celia; Haider, Zahra; Ryan, Gavin; Holden, Simon; Harrison, Mike; Burrows, Nigel; Jones, Wendy D.; Loveless, Mary; Petree, Cassidy; Stewart, Helen; Low, Karen; Donnelly, Deirdre; Lovell, Simon; Drosou, Konstantina; Varshney, Gaurav K.; Banka, Siddharth 分享 收藏
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Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders Rowlands, Charlie; Thomas, Huw B.; Lord, Jenny; Wai, Htoo A.; Arno, Gavin; Beaman, Glenda; Sergouniotis, Panagiotis; Gomes-Silva, Beatriz; Campbell, Christopher; Gossan, Nicole; Hardcastle, Claire; Webb, Kevin; O'Callaghan, Christopher; Hirst, Robert A.; Ramsden, Simon; Jones, Elizabeth; Clayton-Smith, Jill; Webster, Andrew R.; Douglas, Andrew G. L.; O'Keefe, Raymond T.; Newman, William G.; Baralle, Diana; Black, Graeme C. M.; Ellingford, Jamie M. 分享 收藏
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Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders Molina-Ramirez, Leslie Patricia; Kyle, Claire; Ellingford, Jamie M.; Wright, Ronnie; Taylor, Algy; Bhaskar, Sanjeev S.; Campbell, Christopher; Jackson, Harriet; Fairclough, Adele; Rousseau, Abigail; Burghel, George J.; Dutton, Laura; Banka, Siddharth; Briggs, Tracy A.; Clayton-Smith, Jill; Douzgou, Sofia; Jones, Elizabeth A.; Kingston, Helen M.; Kerr, Bronwyn; Ealing, John; Somarathi, Suresh; Chandler, Kate E.; Stuart, Helen M.; Burkitt-Wright, Emma M. M.; Newman, William G.; Bruce, Iain A.; Black, Graeme C.; Gokhale, David 分享 收藏
GNA11 Mutation as a Cause of Sturge-Weber Syndrome: Expansion of the Phenotypic Spectrum of Gα/11 Mosaicism and the Associated Clinical Diagnoses Polubothu, Satyamaanasa; Al-Olabi, Lara; Carmen del Boente, Maria; Chacko, Alisha; Eleftheriou, Georgios; Glover, Mary; Jimenez-Gallo, David; Jones, Elizabeth A.; Lomas, Debra; Foelster-Holst, Regina; Syed, Samira; Tasani, Monika; Thomas, Anna; Tisdall, Martin; Torrelo, Antonio; Aylett, Sarah; Kinsler, Veronica A. 分享 收藏
Genotype-phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis Simpson, J. K.; Martinez-Queipo, M.; Onoufriadis, A.; Tso, S.; Glass, E.; Liu, L.; Higashino, T.; Scott, W.; Tierney, C.; Simpson, M. A.; Desomchoke, R.; Youssefian, L.; Saeldian, A. H.; Vahidnezhad, H.; Bisquera, A.; Ravenscroft, J.; Moss, C.; O'Toole, E. A.; Burrows, N.; Leech, S.; Jones, E. A.; Lim, D.; Ilchyshyn, A.; Goldstraw, N.; Cork, M. J.; Darne, S.; Uitto, J.; Martinez, A. E.; Mellerio, J. E.; McGrath, J. A. 分享 收藏
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Further delineation of the KBG syndrome caused by ANKRD11 aberrations (vol 23, pg 1176, 2015) Ockeloen, Charlotte W.; Willemsen, Marjolein H.; de Munnik, Sonja; van Bon, Bregje W. M.; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; van Loon, Rosa L. E.; Smeets, Eric E. J.; van Haelst, Mieke M.; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J. J.; van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E. L.; Kleefstra, Tjitske 分享 收藏
Mosaic structural variation in children with developmental disorders King, Daniel A.; Jones, Wendy D.; Crow, Yanick J.; Dominiczak, Anna F.; Foster, Nicola A.; Gaunt, Tom R.; Harris, Jade; Hellens, Stephen W.; Homfray, Tessa; Innes, Josie; Jones, Elizabeth A.; Joss, Shelagh; Kulkarni, Abhijit; Mansour, Sahar; Morris, Andrew D.; Parker, Michael J.; Porteous, David J.; Shihab, Hashem A.; Smith, Blair H.; Tatton-Brown, Katrina; Tolmie, John L.; Trzaskowski, Maciej; Vasudevan, Pradeep C.; Wakeling, Emma; Wright, Michael; Plomin, Robert; Timpson, Nicholas J.; Hurles, Matthew E. 分享 收藏
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations Ockeloen, Charlotte W.; Willemsen, Marjolein H.; de Munnik, Sonja; van Bon, Bregje W. M.; de Leeuw, Nicole; Verrips, Aad; Kant, Sarina G.; Jones, Elizabeth A.; Brunner, Han G.; van Loon, Rosa L. E.; Smeets, Eric E. J.; van Haelst, Mieke M.; van Haaften, Gijs; Nordgren, Ann; Malmgren, Helena; Grigelioniene, Giedre; Vermeer, Sascha; Louro, Pedro; Ramos, Lina; Maal, Thomas J. J.; van Heumen, Celeste C.; Yntema, Helger G.; Carels, Carine E. L.; Kleefstra, Tjitske 分享 收藏
New Hyperekplexia Mutations Provide Insight into Glycine Receptor Assembly, Trafficking, and Activation Mechanisms Bode, Anna; Wood, Sian-Elin; Mullins, Jonathan G. L.; Keramidas, Angelo; Cushion, Thomas D.; Thomas, Rhys H.; Pickrell, William O.; Drew, Cheney J. G.; Masri, Amira; Jones, Elizabeth A.; Vassallo, Grace; Born, Alfred P.; Alehan, Fusun; Aharoni, Sharon; Bannasch, Gerald; Bartsch, Marius; Kara, Bulent; Krause, Amanda; Karam, Elie G.; Matta, Stephanie; Jain, Vivek; Mandel, Hanna; Freilinger, Michael; Graham, Gail E.; Hobson, Emma; Chatfield, Sue; Vincent-Delorme, Catherine; Rahme, Jubran E.; Afawi, Zaid; Berkovic, Samuel F.; Howell, Owain W.; Vanbellinghen, Jean-Francois; Rees, Mark I.; Chung, Seo-Kyung; Lynch, Joseph W. 分享 收藏
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