Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation

av Pyle, Angela, Griffin, Helen, Duff, Jennifer, Zwolinski, Simon, Smertenko, Tania, Yu-Wai-Man, Patrick, Santibanez-Koref, Mauro, Horvath, Rita, Chinnery, Patrick F.
Publicerad 2013

Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission

av Arefi, Majid, Wilson, Valerie, Muthiah, Siobhan, Zwolinski, Simon, Bajwa, Dalvir, Brennan, Paul, Blasdale, Katie, Bourn, David, Burn, John, Santibanez-Koref, Mauro, Rajan, Neil
I publikationen J Am Acad Dermatol (2019)

Human-specific NOTCH2NL genes affect Notch signaling and cortical neurogenesis

av Fiddes, Ian T., Lodewijk, Gerrald A., Mooring, Meghan, Bosworth, Colleen M., Ewing, Adam D., Mantalas, Gary L., Novak, Adam M., van den Bout, Anouk, Bishara, Alex, Rosenkrantz, Jimi L., Lorig-Roach, Ryan, Field, Andrew R., Haeussler, Maximilian, Russo, Lotte, Bhaduri, Aparna, Nowakowski, Tomasz J., Pollen, Alex A., Dougherty, Max L., Nuttle, Xander, Addor, Marie-Claude, Zwolinski, Simon, Katzman, Sol, Kriegstein, Arnold, Eichler, Evan E., Salama, Sofie R., Jacobs, Frank M.J., Haussler, David
I publikationen Cell (2018)

Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa

av Buskin, Adriana, Zhu, Lili, Chichagova, Valeria, Basu, Basudha, Mozaffari-Jovin, Sina, Dolan, David, Droop, Alastair, Collin, Joseph, Bronstein, Revital, Mehrotra, Sudeep, Farkas, Michael, Hilgen, Gerrit, White, Kathryn, Pan, Kuan-Ting, Treumann, Achim, Hallam, Dean, Bialas, Katarzyna, Chung, Git, Mellough, Carla, Ding, Yuchun, Krasnogor, Natalio, Przyborski, Stefan, Zwolinski, Simon, Al-Aama, Jumana, Alharthi, Sameer, Xu, Yaobo, Wheway, Gabrielle, Szymanska, Katarzyna, McKibbin, Martin, Inglehearn, Chris F., Elliott, David J., Lindsay, Susan, Ali, Robin R., Steel, David H., Armstrong, Lyle, Sernagor, Evelyne, Urlaub, Henning, Pierce, Eric, Lührmann, Reinhard, Grellscheid, Sushma-Nagaraja, Johnson, Colin A., Lako, Majlinda
I publikationen Nat Commun (2018)