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Material Type: Artigo
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Data quality control in genetic case-control association studiesAnderson, Carl A ; Zondervan, Krina T ; Pettersson, Fredrik H ; Clarke, Geraldine M ; Cardon, Lon R ; Morris, Andrew PNature protocols, 2010-09, Vol.5 (9), p.1564-1573 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Human SNP Links Differential Outcomes in Inflammatory and Infectious Disease to a FOXO3-Regulated PathwayLee, James C. ; Espéli, Marion ; Anderson, Carl A. ; Linterman, Michelle A. ; Pocock, Joanna M. ; Williams, Naomi J. ; Roberts, Rebecca ; Viatte, Sebastien ; Fu, Bo ; Peshu, Norbert ; Hien, Tran Tinh ; Phu, Nguyen Hoan ; Wesley, Emma ; Edwards, Cathryn ; Ahmad, Tariq ; Mansfield, John C. ; Gearry, Richard ; Dunstan, Sarah ; Williams, Thomas N. ; Barton, Anne ; Vinuesa, Carola G. ; Phillips, Anne ; Mowat, Craig ; Drummond, Hazel ; Kennedy, Nick ; Lees, Charlie W. ; Satsangi, Jack ; Taylor, Kirstin ; Prescott, Natalie J. ; Mathew, Christopher G. ; Simpson, Peter ; Simmons, Alison ; Khan, Mohammed ; Newman, William G. ; Hawkey, Christopher ; Hart, Ailsa ; Wilson, David C. ; Henderson, Paul ; Barrett, Jeffrey C. ; Parkes, Miles ; Lyons, Paul A. ; Smith, Kenneth G.C.Cell, 2013-09, Vol.155 (1), p.57-69 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Capacitance spectroscopy enables real‐time monitoring of early cell death in mammalian cell cultureWu, Suyang ; Ketcham, Stephanie A ; Corredor, Claudia C. ; Both, Douglas ; Drennen, James K. ; Anderson, Carl A.Biotechnology journal, 2023-03, Vol.18 (3), p.e2200231-n/a [Periódico revisado por pares]GermanyTexto completo disponível |
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Material Type: Artigo
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Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibilityParkes, Miles ; Barrett, Jeffrey C ; Prescott, Natalie J ; Tremelling, Mark ; Anderson, Carl A ; Fisher, Sheila A ; Roberts, Roland G ; Nimmo, Elaine R ; Cummings, Fraser R ; Soars, Dianne ; Drummond, Hazel ; Lees, Charlie W ; Khawaja, Saud A ; Bagnall, Richard ; Burke, Denis A ; Todhunter, Catherine E ; Ahmad, Tariq ; Onnie, Clive M ; McArdle, Wendy ; Strachan, David ; Bethel, Graeme ; Bryan, Claire ; Lewis, Cathryn M ; Deloukas, Panos ; Forbes, Alastair ; Sanderson, Jeremy ; Jewell, Derek P ; Satsangi, Jack ; Mansfield, John C ; Cardon, Lon ; Mathew, Christopher GNature genetics, 2007-07, Vol.39 (7), p.830-832 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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Material Type: Artigo
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Genetics in PSC: What Do the “Risk Genes” Teach Us?Folseraas, Trine ; Liaskou, Evaggelia ; Anderson, Carl. A. ; Karlsen, Tom H.Clinical reviews in allergy & immunology, 2015-06, Vol.48 (2-3), p.154-164 [Periódico revisado por pares]Boston: Springer USTexto completo disponível |
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Material Type: Artigo
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Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidismCangul, Hakan ; Liao, Xiao-Hui ; Schoenmakers, Erik ; Kero, Jukka ; Barone, Sharon ; Srichomkwun, Panudda ; Iwayama, Hideyuki ; Serra, Eva G ; Saglam, Halil ; Eren, Erdal ; Tarim, Omer ; Nicholas, Adeline K ; Zvetkova, Ilona ; Anderson, Carl A ; Frankl, Fiona E Karet ; Boelaert, Kristien ; Ojaniemi, Marja ; Jääskeläinen, Jarmo ; Patyra, Konrad ; Löf, Christoffer ; Williams, E Dillwyn ; Soleimani, Manoocher ; Barrett, Timothy ; Maher, Eamonn R ; Chatterjee, V Krishna ; Refetoff, Samuel ; Schoenmakers, NadiaJCI insight, 2018-10, Vol.3 (20) [Periódico revisado por pares]United States: American Society for Clinical InvestigationTexto completo disponível |
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Material Type: Artigo
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Metabolic trends of Chinese hamster ovary cells in biopharmaceutical production under batch and fed‐batch conditionsRish, Adam J. ; Drennen, James K. ; Anderson, Carl A.Biotechnology progress, 2022-01, Vol.38 (1), p.e3220-n/a [Periódico revisado por pares]Hoboken, USA: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye MalformationsRainger, Joe ; Pehlivan, Davut ; Johansson, Stefan ; Bengani, Hemant ; Sanchez-Pulido, Luis ; Williamson, Kathleen A. ; Ture, Mehmet ; Barker, Heather ; Rosendahl, Karen ; Spranger, Jürgen ; Horn, Denise ; Meynert, Alison ; Floyd, James A.B. ; Prescott, Trine ; Anderson, Carl A. ; Rainger, Jacqueline K. ; Karaca, Ender ; Gonzaga-Jauregui, Claudia ; Jhangiani, Shalini ; Muzny, Donna M. ; Seawright, Anne ; Soares, Dinesh C. ; Kharbanda, Mira ; Murday, Victoria ; Finch, Andrew ; Hurles, Matthew ; FitzPatrick, David R. ; Al-Turki, Saeed ; Anderson, Carl ; Barroso, Inês ; Beales, Philip ; Bentham, Jamie ; Bhattacharya, Shoumo ; Carss, Keren ; Chatterjee, Krishna ; Cirak, Sebhattin ; Cosgrove, Catherine ; Daly, Allan ; Floyd, Jamie ; Franklin, Chris ; Futema, Marta ; Humphries, Steve ; McCarthy, Shane ; Mitchison, Hannah ; Muntoni, Francesco ; Onoufriadis, Alexandros ; Parker, Victoria ; Payne, Felicity ; Plagnol, Vincent ; Raymond, Lucy ; Savage, David ; Scambler, Peter ; Schmidts, Miriam ; Semple, Robert ; Serra, Eva ; Stalker, Jim ; van Kogelenberg, Margriet ; Vijayarangakannan, Parthiban ; Walter, Klaudia ; Wood, Gretta ; Gibbs, Richard A. ; van Heyningen, Veronica ; Taylor, Martin S. ; Yakut, Tahsin ; Knappskog, Per M. ; Hurles, Matthew E. ; Ponting, Chris P. ; Lupski, James R. ; Houge, Gunnar ; FitzPatrick, David R.American journal of human genetics, 2014-06, Vol.94 (6), p.915-923 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure DefectsWilliamson, Kathleen A. ; Rainger, Joe ; Floyd, James A.B. ; Ansari, Morad ; Meynert, Alison ; Aldridge, Kishan V. ; Rainger, Jacqueline K. ; Anderson, Carl A. ; Moore, Anthony T. ; Hurles, Matthew E. ; Clarke, Angus ; van Heyningen, Veronica ; Verloes, Alain ; Taylor, Martin S. ; Wilkie, Andrew O.M. ; FitzPatrick, David R.American journal of human genetics, 2014-02, Vol.94 (2), p.295-302 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3Olcese, Chiara ; Patel, Mitali P ; Shoemark, Amelia ; Kiviluoto, Santeri ; Legendre, Marie ; Williams, Hywel J ; Vaughan, Cara K ; Hayward, Jane ; Goldenberg, Alice ; Emes, Richard D ; Munye, Mustafa M ; Dyer, Laura ; Cahill, Thomas ; Bevillard, Jeremy ; Gehrig, Corinne ; Guipponi, Michel ; Chantot, Sandra ; Duquesnoy, Philippe ; Thomas, Lucie ; Jeanson, Ludovic ; Copin, Bruno ; Tamalet, Aline ; Thauvin-Robinet, Christel ; Papon, Jean-François ; Garin, Antoine ; Pin, Isabelle ; Vera, Gabriella ; Aurora, Paul ; Fassad, Mahmoud R ; Jenkins, Lucy ; Boustred, Christopher ; Cullup, Thomas ; Dixon, Mellisa ; Onoufriadis, Alexandros ; Bush, Andrew ; Chung, Eddie M K ; Antonarakis, Stylianos E ; Loebinger, Michael R ; Wilson, Robert ; Armengot, Miguel ; Escudier, Estelle ; Hogg, Claire ; Amselem, Serge ; Sun, Zhaoxia ; Bartoloni, Lucia ; Blouin, Jean-Louis ; Mitchison, Hannah MNature communications, 2017-02, Vol.8 (1), p.14279-15, Article 14279 [Periódico revisado por pares]England: Nature Publishing GroupTexto completo disponível |