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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia Hall, Hildegard Nikki; Parry, David; Halachev, Mihail; Williamson, Kathleen A.; Donnelly, Kevin; Campos Parada, Jose; Bhatia, Shipra; Joseph, Jeffrey; Holden, Simon; Prescott, Trine E.; Bitoun, Pierre; Kirk, Edwin P.; Newbury-Ecob, Ruth; Lachlan, Katherine; Bernar, Juan; van Heyningen, Veronica; Fitzpatrick, David R.; Meynert, Alison 分享 收藏
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction 复发性杂合PAX6错义变异通过对DNA-蛋白质相互作用的可预测影响导致严重的双侧小眼症 Williamson, Kathleen A.; Hall, H. Nikki; Owen, Liusaidh J.; Livesey, Benjamin J.; Hanson, Isabel M.; Adams, G. G. W.; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T.; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T.; Parker, Michael; Reiff, Charlotte M.; Self, Jay; Tobias, Edward S.; Verheij, Joke B. G. M.; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A.; FitzPatrick, David R. 分享 收藏
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Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy Silva, Raquel S.; Arno, Gavin; Cipriani, Valentina; Pontikos, Nikolas; Defoort-Dhellemmes, Sabine; Kalhoro, Ambreen; Carss, Keren J.; Raymone, F. Lucy; Dhaenens, Claire Marie; Jensen, Hanne; Rosenberg, Thomas; van Heyningen, Veronica; Moore, Anthony T.; Puech, Bernard; Webster, Andrew R. 分享 收藏
Duplication events downstream of IRX1 cause North Carolina macular dystrophy at the MCDR3 locus Cipriani, Valentina; Silva, Raquel S.; Arno, Gavin; Pontikos, Nikolas; Kalhoro, Ambreen; Valeina, Sandra; Inashkina, Inna; Audere, Mareta; Rutka, Katrina; Puech, Bernard; Michaelides, Michel; van Heyningen, Veronica; Lace, Baiba; Webster, Andrew R.; Moore, Anthony T. 分享 收藏
A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma Rainger, Joe; Williamson, Kathleen A.; Soares, Dinesh C.; Truch, Julia; Kurian, Dominic; Gillessen-Kaesbach, Gabriele; Seawright, Anne; Prendergast, James; Halachev, Mihail; Wheeler, Ann; McTeir, Lynn; Gill, Andrew C.; van Heyningen, Veronica; Davey, Megan G.; FitzPatrick, David R. 分享 收藏
KDM3A coordinates actin dynamics with intraflagellar transport to regulate cilia stability KDM3A协调肌动蛋白动力学与鞭毛内运输以调节纤毛稳定性 Yeyati, Patricia L.; Schiller, Rachel; Mali, Girish; Kasioulis, Ioannis; Kawamura, Akane; Adams, Ian R.; Playfoot, Christopher; Gilbert, Nick; van Heyningen, Veronica; Wills, Jimi; von Kriegsheim, Alex; Finch, Andrew; Sakai, Juro; Schofield, Christopher J.; Jackson, Ian J.; Mill, Pleasantine 分享 收藏
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome Shaw, Natalie D.; Brand, Harrison; Kupchinsky, Zachary A.; Bengani, Hemant; Plummer, Lacey; Jones, Takako I.; Erdin, Serkan; Williamson, Kathleen A.; Rainger, Joe; Stortchevoi, Alexei; Samocha, Kaitlin; Curra, Benjamin B.; Dunican, Donncha S.; Collins, Ryan L.; Willer, Jason R.; Lek, Angela; Lek, Monkol; Nassan, Malik; Pereira, Shahrin; Kammin, Tammy; Lucente, Diane; Silva, Alexandra; Seabra, Catarina M.; Chiang, Colby; Ana, Yu; Ansari, Morad; Rainger, Jacqueline K.; Joss, Shelagh; Smith, Jill Clayton; Lippincott, Margaret F.; Singh, Sylvia S.; Patel, Nirav; Jing, Jenny W.; Law, Jennifer R.; Ferraro, Nalton; Verloes, Main; Rauch, Anita; Steindl, Katharina; Zweier, Markus; Scheer, Ianina; Sato, Daisuke; Okamoto, Nobuhiko; Jacobsen, Christina; Tryggestad, Jeanie; Chernausek, Steven; Schimmenti, Lisa A.; Brasseur, Benjamin; Cesaretti, Claudia; Garcia-Ortiz, Jose E.; Pineda Buitrago, Tatiana; Perez Silva, Orlando; Hoffman, Jodi D.; Muehlbauer, Wolfgang; Ruprecht, Klaus W.; Loeys, Bart L.; Shino, Masato; Kaind, Angela M.; Cho, Chie-Hee; Morton, Cynthia C.; Meehan, Richard R.; van Heyningen, Veronica; Liao, Eric C.; Balasubramanian, Ravikumar; Hall, Janet E.; Seminara, Stephanie B.; Macarthur, Daniel; Moore, Steven A.; Yoshiura, Koh-ichiro; Gusella, James F.; Marsh, Joseph A.; Graham, John M., Jr.; Lin, Angela E.; Katsanis, Nicholas; Jones, Peter L.; Crowley, William F., Jr.; Davis, Erica E.; FitzPatrick, David R.; Talkowski, Michael E. 分享 收藏
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect McEntagart, Meriel; Williamson, Kathleen A.; Rainger, Jacqueline K.; Wheeler, Ann; Seawright, Anne; De Baere, Elfride; Verdin, Hannah; Bergendahl, L. Therese; Quigley, Alan; Rainger, Joe; Dixit, Abhijit; Sarkar, Ajoy; Lopez Laso, Eduardo; Sanchez-Carpintero, Rocio; Barrio, Jesus; Bitoun, Pierre; Prescott, Trine; Riise, Ruth; McKee, Shane; Cook, Jackie; McKie, Lisa; Ceulemans, Berten; Meire, Francoise; Temple, I. Karen; Prieur, Fabienne; Williams, Jonathan; Clouston, Penny; Nemeth, Andrea H.; Banka, Siddharth; Bengani, Hemant; Handley, Mark; Freyer, Elisabeth; Ross, Allyson; van Heyningen, Veronica; Marsh, Joseph A.; Elmslie, Frances; FitzPatrick, David R. 分享 收藏
PAX6, brain structure and function in human adults: advanced MRI in aniridia Yogarajah, Mahinda; Matarin, Mar; Vollmar, Christian; Thompson, Pamela J.; Duncan, John S.; Symms, Mark; Moore, Anthony T.; Liu, Joan; Thom, Maria; van Heyningen, Veronica; Sisodiya, Sanjay M. 分享 收藏
Long-range evolutionary constraints reveal cis-regulatory interactions on the human X chromosome Naville, Magali; Ishibashi, Minaka; Ferg, Marco; Bengani, Hemant; Rinkwitz, Silke; Krecsmarik, Monika; Hawkins, Thomas A.; Wilson, Stephen W.; Manning, Elizabeth; Chilamakuri, Chandra S. R.; Wilson, David I.; Louis, Alexandra; Raymond, F. Lucy; Rastegar, Sepand; Straehle, Uwe; Lenhard, Boris; Bally-Cuif, Laure; van Heyningen, Veronica; FitzPatrick, David R.; Becker, Thomas S.; Roest Crollius, Hugues 分享 收藏
Identification of Novel Craniofacial Regulatory Domains Located far Upstream of SOX9 and Disrupted in Pierre Robin Sequence 鉴定位于SOX9上游并在Pierre Robin序列中被破坏的新型颅面调节域 Gordon, Christopher T.; Attanasio, Catia; Bhatia, Shipra; Benko, Sabina; Ansari, Morad; Tan, Tiong Y.; Munnich, Arnold; Pennacchio, Len A.; Abadie, Veronique; Temple, I. Karen; Goldenberg, Alice; van Heyningen, Veronica; Amiel, Jeanne; FitzPatrick, David; Kleinjan, Dirk A.; Visel, Axel; Lyonnet, Stanislas 分享 收藏
Monoallelic and Biallelic Mutations in MAB21L2 Cause a Spectrum of Major Eye Malformations Rainger, Joe; Pehlivan, Davut; Johansson, Stefan; Bengani, Hemant; Sanchez-Pulido, Luis; Williamson, Kathleen A.; Ture, Mehmet; Barker, Heather; Rosendahl, Karen; Spranger, Juergen; 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; 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. 分享 收藏
Kdm3a lysine demethylase is an Hsp90 client required for cytoskeletal rearrangements during spermatogenesis Kasioulis, Ioannis; Syred, Heather M.; Tate, Peri; Finch, Andrew; Shaw, Joseph; Seawright, Anne; Fuszard, Matt; Botting, Catherine H.; Shirran, Sally; Adams, Ian R.; Jackson, Ian J.; van Heyningen, Veronica; Yeyati, Patricia L. 分享 收藏
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects Williamson, 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. 分享 收藏
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia Bhatia, Shipra; Bengani, Hemant; Fish, Margaret; Brown, Alison; Divizia, Maria Teresa; de Marco, Riccardo; Damante, Guiseppe; Grainger, Robert; van Heyningen, Veronica; Kleinjan, Dirk A. 分享 收藏
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