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Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria 简化Bardet-Biedl综合征的诊断：具有更新标准的新的诊断算法 Pomeroy, Jeremy J.; Richards, Jesse; Sweeney, Brooke R.; Kumar, Seema; Queen, Katie E.; Zaritsky, Joshua; Cramer, Carl H.; Traboulsi, Elias I.; Scruggs, Brittni A.; Davis, Erica E.; Keifer, Ekaterina; McGibbon, Emma; Ogden, Timothy; De Graaf, Bendert; Hymers, Tonia; Forsythe, Elizabeth; Beales, Philip 分享 收藏
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Impact of Setmelanotide on Metabolic Syndrome Risk in Patients With Bardet-Biedl Syndrome Setmelanotide对bardet-biedl综合征患者代谢综合征风险的影响 Haqq, Andrea M.; Poitou, Christine; Chung, Wendy K.; Forsythe, Elizabeth; Conroy, Rushika; Dollfus, Helene; Malhotra, Sonali; Touchot, Nicolas; Okorie, Uzoma; Beales, Philip; Clement, Karine; Argente, Jesus 分享 收藏
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De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1 Freke, Grace Mercedes; Martins, Tiago; Davies, Rosalind Jane; Beyer, Tina; Seda, Marian; Peskett, Emma; Haq, Naila; Prasai, Avishek; Otto, Georg; Srikaran, Jeshmi Jeyabalan; Hernandez, Victor; Diwan, Gaurav D.; Russell, Robert B.; Ueffing, Marius; Huranova, Martina; Boldt, Karsten; Beales, Philip L.; Jenkins, Dagan 分享 收藏
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans IFT74变体导致小鼠和人类的骨骼纤毛病和运动纤毛缺陷 Bakey, Zeineb; Cabrera, Oscar A.; Hoefele, Julia; Antony, Dinu; Wu, Kaman; Stuck, Michael W.; Micha, Dimitra; Eguether, Thibaut; Smith, Abigail O.; van der Wel, Nicole N.; Wagner, Matias; Strittmatter, Lara; Beales, Philip L.; Jonassen, Julie A.; Thiffault, Isabelle; Cadieux-Dion, Maxime; Boyes, Laura; Sharif, Saba; Tuysuz, Beyhan; Dunstheimer, Desiree; Niessen, Hans W. M.; Devine, William; Lo, Cecilia W.; Mitchison, Hannah M.; Schmidts, Miriam; Pazour, Gregory J. 分享 收藏
Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet-Biedl syndrome: phase 3 trial results Forsythe, Elizabeth; Haws, Robert M.; Argente, Jesus; Beales, Philip; Martos-Moreno, Gabriel A.; Dollfus, Helene; Chirila, Costel; Gnanasakthy, Ari; Buckley, Brieana C.; Mallya, Usha G.; Clement, Karine; Haqq, Andrea M. 分享 收藏
Quality of life in patients with Bardet-Biedl syndrome in a setmelanotide phase 3 trial Forsythe, Elizabeth; Haws, Robert; Argente, Jesus; Beales, Philip; Chirila, Costel; Clement, Karine; Dollfus, Helene; Martos-Moreno, Gabriel; Gnanasakthy, Ari; Buckley, Brieana; Mallya, Usha; Haqq, Andrea 分享 收藏
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesia Lee, Dani Do Hyang; Cardinale, Daniela; Nigro, Ersilia; Butler, Colin R.; Rutman, Andrew; Fassad, Mahmoud R.; Hirst, Robert A.; Moulding, Dale; Agrotis, Alexander; Forsythe, Elisabeth; Peckham, Daniel; Robson, Evie; Smith, Claire M.; Somavarapu, Satyanarayana; Beales, Philip L.; Hart, Stephen L.; Janes, Sam M.; Mitchison, Hannah M.; Ketteler, Robin; Hynds, Robert E.; O'Callaghan, Christopher 分享 收藏
Bardet-Biedl Syndrome ciliopathy is linked to altered hematopoiesis and dysregulated self-tolerance Tsyklauri, Oksana; Niederlova, Veronika; Forsythe, Elizabeth; Prasai, Avishek; Drobek, Ales; Kasparek, Petr; Sparks, Kathryn; Trachtulec, Zdenek; Prochazka, Jan; Sedlacek, Radislav; Beales, Philip; Huranova, Martina; Stepanek, Ondrej 分享 收藏
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CD19+CD24hiCD38hi B Cells Are Expanded in Juvenile Dermatomyositis and Exhibit a Pro-Inflammatory Phenotype After Activation Through Toll-Like Receptor 7 and Interferon-α Piper, Christopher J. M.; Li Wilkinson, Meredyth G.; Deakin, Claire T.; Otto, Georg W.; Dowle, Stefanie; Duurland, Chantal L.; Adams, Stuart; Marasco, Emiliano; Rosser, Elizabeth C.; Radziszewska, Anna; Carsetti, Rita; Ioannou, Yiannis; Beales, Philip L.; Kelberman, Daniel; Isenberg, David A.; Mauri, Claudia; Nistala, Kiran; Wedderburn, Lucy R. 分享 收藏
COLEC10 is mutated in 3MC patients and regulates early craniofacial development Munye, Mustafa M.; Diaz-Font, Anna; Ocaka, Louise; Henriksen, Maiken L.; Lees, Melissa; Brady, Angela; Jenkins, Dagan; Morton, Jenny; Hansen, Soren W.; Bacchelli, Chiara; Beales, Philip L.; Hernandez-Hernandez, Victor 分享 收藏
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes Wheway, Gabrielle; Schmidts, Miriam; Mans, Dorus A.; Szymanska, Katarzyna; Nguyen, Thanh-Minh T.; Racher, Hilary; Phelps, Ian G.; Toedts, Grischa; Kennedy, Julie; Wunderlich, Kirsten A.; Sorusch, Nasrin; Abdelhamed, Zakia A.; Natarajan, Subaashini; Herridge, Warren; van Reeuwijk, Jeroen; Horn, Nicola; Boldt, Karsten; Parry, David A.; Letteboer, Stef J. F.; Roosing, Susanne; Adams, Matthew; Bell, Sandra M.; Bond, Jacquelyn; Higgins, Julie; Morrison, Ewan E.; Tomlinson, Darren C.; Slaats, Gisela G.; van Dam, Teunis J. P.; Huang, Lijia; Kessler, Kristin; Giessl, Andreas; Logan, Clare V.; Boyle, Evan A.; Shendure, Jay; Anazi, Shamsa; Aldahmesh, Mohammed; Al Hazzaa, Selwa; Hegele, Robert A.; Ober, Carole; Frosk, Patrick; Mhanni, Aizeddin A.; Chodirker, Bernard N.; Chudley, Albert E.; Lamont, Ryan; Bernier, Francois P.; Beaulieu, Chandree L.; Gordon, Paul; Pon, Richard T.; Donahue, Clem; Barkovich, A. James; Wolf, Louis; Toomes, Carmel; Thiel, Christian T.; Boycott, Kym M.; McKibbin, Martin; Inglehearn, Chris F.; Stewart, Fiona; Omran, Heymut; Huynen, Martijn A.; Sergouniotis, Panagiotis I.; Alkuraya, Fowzan S.; Parboosingh, Jillian S.; Innes, A. Micheil; Willoughby, Cohn E.; Giles, Rachel H.; Webster, Andrew R.; Ueffing, Marius; Blacque, Oliver; Gleeson, Joseph G.; Wolfrum, Uwe; Beales, Philip L.; Gibson, Toby; Doherty, Dan; Mitchison, Hannah M.; Roepman, Ronald; Johnson, Colin A. 分享 收藏
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport Schmidts, Miriam; Hou, Yuqing; Cortes, Claudio R.; Mans, Dorus A.; Huber, Celine; Boldt, Karsten; Patel, Mitali; van Reeuwijk, Jeroen; Plaza, Jean-Marc; van Beersum, Sylvia E. C.; Yap, Zhi Min; Letteboer, Stef J. F.; Taylor, S. Paige; Herridge, Warren; Johnson, Colin A.; Scambler, Peter J.; Ueffing, Marius; Kayserili, Hulya; Krakow, Deborah; King, Stephen M.; Beales, Philip L.; Al-Gazali, Lihadh; Wicking, Carol; Cormier-Daire, Valerie; Roepman, Ronald; Mitchison, Hannah M.; Witman, George B. 分享 收藏
The kinetochore protein, CENPF, is mutated in human ciliopathy and microcephaly phenotypes Waters, Aoife M.; Asfahani, Rowan; Carroll, Paula; Bicknell, Louise; Lescai, Francesco; Bright, Alison; Chanudet, Estelle; Brooks, Anthony; Christou-Savina, Sonja; Osman, Guled; Walsh, Patrick; Bacchelli, Chiara; Chapgier, Ariane; Vernay, Bertrand; Bader, David M.; Deshpande, Charu; O' Sullivan, Mary; Ocaka, Louise; Stanescu, Horia; Stewart, Helen S.; Hildebrandt, Friedhelm; Otto, Edgar; Johnson, Colin A.; Szymanska, Katarzyna; Katsanis, Nicholas; Davis, Erica; Kleta, Robert; Hubank, Mike; Doxsey, Stephen; Jackson, Andrew; Stupka, Elia; Winey, Mark; Beales, Philip L. 分享 收藏
Ciliary dysfunction impairs beta-cell insulin secretion and promotes development of type 2 diabetes in rodents Gerdes, Jantje M.; Christou-Savina, Sonia; Xiong, Yan; Moede, Tilo; Moruzzi, Noah; Karlsson-Edlund, Patrick; Leibiger, Barbara; Leibiger, Ingo B.; Ostenson, Claes-Goran; Beales, Philip L.; Berggren, Per-Olof 分享 收藏
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