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A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability Benson, Katherine A.; White, Maire; Allen, Nicholas M.; Byrne, Susan; Carton, Robert; Comerford, Elizabeth; Costello, Daniel; Doherty, Colin; Dunleavey, Brendan; El-Naggar, Hany; Gangadharan, Nisha; Heavin, Sinead; Kearney, Hugh; Lench, Nicholas J.; Lynch, John; McCormack, Mark; O'Regan, Mary; Podesta, Karl; Power, Kevin; Rogers, Anthony S.; Steward, Charles A.; Sweeney, Brian; Webb, David; Fitzsimons, Mary; Greally, Marie; Delanty, Norman; Cavalleri, Gianpiero L. 分享 收藏
Diagnostic implications of genetic copy number variation in epilepsy plus 遗传拷贝数变异对癫痫plus的诊断意义 Coppola, Antonietta; Cellini, Elena; Stamberger, Hannah; Saarentaus, Elmo; Cetica, Valentina; Lal, Dennis; Djemie, Tania; Bartnik-Glaska, Magdalena; Ceulemans, Berten; Cross, J. Helen; Deconinck, Tine; De Masi, Salvatore; Dorn, Thomas; Guerrini, Renzo; Hoffman-Zacharska, Dorotha; Kooy, Frank; Lagae, Lieven; Lench, Nicholas; Lemke, Johannes R.; Lucenteforte, Ersilia; Madia, Francesca; Mefford, Heather C.; Morrogh, Deborah; Nuernberg, Peter; Palotie, Aarno; Schoonjans, An-Sofie; Striano, Pasquale; Szczepanik, Elzbieta; Tostevin, Anna; Vermeesch, Joris R.; Van Esch, Hilde; Van Paesschen, Wim; Waters, Jonathan J.; Weckhuysen, Sarah; Zara, Federico; Jonghe, Peter De; Sisodiya, Sanjay M.; Marini, Carla; Lehesjioki, Anna-Elina; Craiu, Dana; Talvik, Tiina; Caglayan, Hande; Serratosa, Jose; Sterbova, Katalin; Moller, Rikke S.; Hjalgrim, Helle; Lerche, Holger; Weber, Yvonne; Helbig, Ingo; von Spiczak, Sarah; Barba, Carmen; Bogaerts, Anneleen; Boni, Antonella; Galizia, Elisabeth Caruana; Chiari, Sara; Clementella, Claudia; Di Gacomo, Gianpiero; Ferrari, Annarita; Guarducci, Silvia; Giglio, Sabrina; Holmgren, Philip; Leu, Costin; Mari, Francesco; Melani, Federico; Novara, Francesca; Pantaleo, Marilena; Peeters, Elke; Pisano, Tiziana; Rosati, Anna; Sander, Josemir; Schoeler, Natasha; Stankiewicz, Pawel; Striano, Salvatore; Suls, Arvid; Traverso, Monica; Vandeweyer, Geert; Van Dijck, Anke; Zuffardi, Orsetta 分享 收藏
Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes Pigors, Manuela; Common, John E. A.; Wong, Xuan Fei Colin C.; Malik, Sajid; Scott, Claire A.; Tabarra, Niloofar; Liany, Herty; Liu, Jianjun; Limviphuvadh, Vachiranee; Maurer-Stroh, Sebastian; Tang, Mark B. Y.; Lench, Nicholas; Margolis, David J.; van Heel, David A.; Mein, Charles A.; Novak, Natalija; Baurecht, Hansjoerg; Weidinger, Stephan; McLean, W. H. Irwin; Irvine, Alan D.; O'Toole, Edel A.; Simpson, Michael A.; Kelsell, David P. 分享 收藏
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CHD2 variants are a risk factor for photosensitivity in epilepsy CHD2变异是癫痫患者光敏性的危险因素 Galizia, Elizabeth C.; Myers, Candace T.; Leu, Costin; de Kovel, Carolien G. F.; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G.; Jacmin, Maxime; Drury, Suzanne; Chinthapalli, V. Krishna; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Moller, Rikke S.; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nuernberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Del Gaudio, Luigi; Boustred, Christopher; Schneider, Amy L.; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G.; Mullen, Saul A.; Berkovic, Samuel F.; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D.; Esguerra, Camila V.; Trenite, Dorothee G. A. Kasteleijn-Nolst; Koeleman, Bobby P. C.; Mefford, Heather C.; Scheffer, Ingrid E.; Sisodiya, Sanjay M. 分享 收藏
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Targeted gene panel sequencing in children with very early onset inflammatory bowel disease-evaluation and prospective analysis Kammermeier, Jochen; Drury, Suzanne; James, Chela T.; Dziubak, Robert; Ocaka, Louise; Elawad, Mamoun; Beales, Philip; Lench, Nicholas; Uhlig, Holm H.; Bacchelli, Chiara; Shah, Neil 分享 收藏
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations Futema, Marta; Plagnol, Vincent; Li, KaWah; Whittall, Ros A.; Neil, H. Andrew W.; Seed, Mary; Bertolini, Stefano; Calandra, Sebastiano; Descamps, Olivier S.; Graham, Colin A.; Hegele, Robert A.; Karpe, Fredrik; Durst, Ronen; Leitersdorf, Eran; Lench, Nicholas; Nair, Devaki R.; Soran, Handrean; Van Bockxmeer, Frank M.; Humphries, Steve E. 分享 收藏
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome Cross, J. Helen; Arora, Ruchi; Heckemann, Rolf A.; Gunny, Roxana; Chong, Kling; Carr, Lucinda; Baldeweg, Torsten; Differ, Ann-Marie; Lench, Nicholas; Varadkar, Sophie; Sirimanna, Tony; Wassmer, Evangeline; Hulton, Sally A.; Ognjanovic, Milos; Ramesh, Venkateswaran; Feather, Sally; Kleta, Robert; Hammers, Alexander; Bockenhauer, Detlef 分享 收藏
Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study Talmud, Philippa J.; Shah, Sonia; Whittall, Ros; Futema, Marta; Howard, Philip; Cooper, Jackie A.; Harrison, Seamus C.; Li, KaWah; Drenos, Fotios; Karpe, Frederik; Neil, H. Andrew W.; Descamps, Olivier S.; Langenberg, Claudia; Lench, Nicholas; Kivimaki, Mika; Whittaker, John; Hingorani, Aroon D.; Kumari, Meena; Humphries, Steve E. 分享 收藏
Filaggrin mutations are associated with ichthyosis vulgaris in the Bangladeshi population Sinclair, C.; O'Toole, E. A.; Paige, D.; El Bashir, H.; Robinson, J.; Dobson, R.; Lench, N.; Stevens, H. P.; Hitman, G. A.; Booy, R.; Mein, C. A.; Kelsell, D. P. 分享 收藏
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Single-point haplotype scores telomeric to human leukocyte antigen-C give a high susceptibility major histocompatability complex haplotype for psoriasis in a Caucasian population Lench, N; Iles, MM; Mackay, I; Patel, R; Sagoo, GS; Ward, SJ; Dechairo, B; Olavesen, M; Carey, A; Duff, GW; Cork, MJ; Tazi-Ahnini, R 分享 收藏
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Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3) 炎症性肠病易感区域的复制和延伸研究证实与6p染色体 (IBD3) 连锁 Dechairo, B; Dimon, C; van Heel, D; Mackay, I; Edwards, M; Scambler, P; Jewell, D; Cardon, L; Lench, N; Carey, A 分享 收藏
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