The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity

Bằng Damgaard, Rune Busk, Walker, Jennifer A., Marco-Casanova, Paola, Morgan, Neil V., Titheradge, Hannah L., Elliott, Paul R., McHale, Duncan, Maher, Eamonn R., McKenzie, Andrew N.J., Komander, David
Xuất bản năm Cell (2016)

Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature

Bằng Petrovski, Slavé, Parrott, Roberta E., Roberts, Joseph L., Huang, Hongxiang, Yang, Jialong, Gorentla, Balachandra, Mousallem, Talal, Wang, Endi, Armstrong, Martin, McHale, Duncan, MacIver, Nancie J., Goldstein, David B., Zhong, Xiao-Ping, Buckley, Rebecca H.
Xuất bản năm J Clin Immunol (2016)

An SCN9A channelopathy causes congenital inability to experience pain

Bằng Cox, James J., Reimann, Frank, Nicholas, Adeline K., Thornton, Gemma, Roberts, Emma, Springell, Kelly, Karbani, Gulshan, Jafri, Hussain, Mannan, Jovaria, Raashid, Yasmin, Al-Gazali, Lihadh, Hamamy, Henan, Valente, Enza Maria, Gorman, Shaun, Williams, Richard, McHale, Duncan P., Wood, John N., Gribble, Fiona M., Woods, C. Geoffrey
Xuất bản năm Nature (2006)

Pain perception is altered by a nucleotide polymorphism in SCN9A

Bằng Reimann, Frank, Cox, James J., Belfer, Inna, Diatchenko, Luda, Zaykin, Dmitri V., McHale, Duncan P., Drenth, Joost P. H., Dai, Feng, Wheeler, Jerry, Sanders, Frances, Wood, Linda, Wu, Tian-Xia, Karppinen, Jaro, Nikolajsen, Lone, Männikkö, Minna, Max, Mitchell B., Kiselycznyk, Carly, Poddar, Minakshi, te Morsche, Rene H.M., Smith, Shad, Gibson, Dustin, Kelempisioti, Anthi, Maixner, William, Gribble, Fiona M., Woods, C. Geoffrey
Được phát hành 2010

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Bằng Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Xuất bản năm Genet Med (2015)

Human biallelic MFN2 mutations induce mitochondrial dysfunction, upper body adipose hyperplasia, and suppression of leptin expression

Bằng Rocha, Nuno, Bulger, David A, Frontini, Andrea, Titheradge, Hannah, Gribsholt, Sigrid Bjerge, Knox, Rachel, Page, Matthew, Harris, Julie, Payne, Felicity, Adams, Claire, Sleigh, Alison, Crawford, John, Gjesing, Anette Prior, Bork-Jensen, Jette, Pedersen, Oluf, Barroso, Inês, Hansen, Torben, Cox, Helen, Reilly, Mary, Rossor, Alex, Brown, Rebecca J, Taylor, Simeon I, McHale, Duncan, Armstrong, Martin, Oral, Elif A, Saudek, Vladimir, O’Rahilly, Stephen, Maher, Eamonn R, Richelsen, Bjørn, Savage, David B, Semple, Robert K
Xuất bản năm eLife (2017)

Clinical spectrum of STX1B-related epileptic disorders

Bằng Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S., Balestrini, Simona, Helbig, Katherine L., Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A., Numis, Adam, Cilio, Maria R., Van Paesschen, Wim, Svendsen, Lene L., Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T., Vavoulis, Dimitris V., Knight, Samantha J.L., Taylor, Jenny C., Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H., Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W., Kluger, Gerhard J., Lowenstein, Daniel H., Weckhuysen, Sarah, Pal, Deb K., Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H., Rees, Mark I., Lesca, Gaetan, Sisodiya, Sanjay M., Weber, Yvonne G., Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Xuất bản năm Neurology (2019)