未登录 Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve Yang, Bo; Zhou, Wei; Jiao, Jiao; Nielsen, Jonas B.; Mathis, Michael R.; Heydarpour, Mahyar; Lettre, Guillaume; Folkersen, Lasse; Prakash, Siddharth; Schurmann, Claudia; Fritsche, Lars; Farnum, Gregory A.; Lin, Maoxuan; Othman, Mohammad; Hornsby, Whitney; Driscoll, Anisa; Levasseur, Alexandra; Thomas, Marc; Farhat, Linda; Dube, Marie-Pierre; Isselbacher, Eric M.; Franco-Cereceda, Anders; Guo, Dong-Chuan; Bottinger, Erwin P.; Deeb, G. Michael; Booher, Anna; Kheterpal, Sachin; Chen, Y. Eugene; Kang, Hyun Min; Kitzman, Jacob; Cordell, Heather J.; Keavney, Bernard D.; Goodship, Judith A.; Ganesh, Santhi K.; Abecasis, Goncalo; Eagle, Kim A.; Boyle, Alan P.; Loos, Ruth J. F.; Eriksson, Per; Tardif, Jean-Claude; Brummett, Chad M.; Milewicz, Dianna M.; Body, Simon C.; Willer, Cristen J. 分享 收藏
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care Cockayne综合征自然史 (CoSyNH) 研究: 102个人的临床发现和护理建议 Wilson, Brian T.; Stark, Zornitza; Sutton, Ruth E.; Danda, Sumita; Ekbote, Alka V.; Elsayed, Solaf M.; Gibson, Louise; Goodship, Judith A.; Jackson, Andrew P.; Keng, Wee Teik; King, Mary D.; McCann, Emma; Motojima, Toshino; Murray, Jennifer E.; Omata, Taku; Pilz, Daniela; Pope, Kate; Sugita, Katsuo; White, Susan M.; Wilson, Ian J. 分享 收藏
A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20 Hanchard, Neil A.; Swaminathan, Shanker; Bucasas, Kristine; Furthner, Dieter; Fernbach, Susan; Azamian, Mahshid S.; Wang, Xueqing; Lewin, Mark; Towbin, Jeffrey A.; D'Alessandro, Lisa C. A.; Morris, Shaine A.; Dreyer, William; Denfield, Susan; Ayres, Nancy A.; Franklin, Wayne J.; Justino, Henri; Lantin-Hermoso, M. Regina; Ocampo, Elena C.; Santos, Alexia B.; Parekh, Dhaval; Moodie, Douglas; Jeewa, Aamir; Lawrence, Emily; Allen, Hugh D.; Penny, Daniel J.; Fraser, Charles D.; Lupski, James R.; Popoola, Mojisola; Wadhwa, Lalita; Brook, J. David; Bu'Lock, Frances A.; Bhattacharya, Shoumo; Lalani, Seema R.; Zender, Gloria A.; Fitzgerald-Butt, Sara M.; Bowman, Jessica; Corsmeier, Don; White, Peter; Lecerf, Kelsey; Zapata, Gladys; Hernandez, Patricia; Goodship, Judith A.; Garg, Vidu; Keavney, Bernard D.; Leal, Suzanne M.; Cordell, Heather J.; Belmont, John W.; McBride, Kim L. 分享 收藏
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Association analysis identifies new risk loci for congenital heart disease in Chinese populations Lin, Yuan; Guo, Xuejiang; Zhao, Bijun; Liu, Juanjuan; Da, Min; Wen, Yang; Hu, Yuanli; Ni, Bixian; Zhang, Kai; Yang, Shiwei; Xu, Jing; Dai, Juncheng; Wang, Xiaowei; Xia, Yankai; Ma, Hongxia; Jin, Guangfu; Yu, Shiqiang; Liu, Jiayin; Keavney, Bernard D.; Goodship, Judith A.; Cordell, Heather J.; Wang, Xinru; Shen, Hongbing; Sha, Jiahao; Zhou, Zuomin; Chen, Yijiang; Mo, Xuming; Luo, Lingfei; Hu, Zhibin 分享 收藏
Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development Vivante, Asaf; Kleppa, Marc-Jens; Schulz, Julian; Kohl, Stefan; Sharma, Amita; Chen, Jing; Shril, Shirlee; Hwang, Daw-Yang; Weiss, Anna-Carina; Kaminski, Michael M.; Shukrun, Rachel; Kemper, Markus J.; Lehnhardt, Anja; Beetz, Rolf; Sanna-Cherchi, Simone; Verbitsky, Miguel; Gharavi, All G.; Stuart, Helen M.; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Woolf, Adrian S.; Westra, Sjirk J.; Doody, Daniel P.; Bauer, Stuart B.; Lee, Richard S.; Adam, Rosalyn M.; Lu, Weining; Reutter, Heiko M.; Kehinde, Elijah O.; Mancini, Erika J.; Lifton, Richard P.; Tasic, Velibor; Lienkamp, Soeren S.; Jueppner, Harald; Kispert, Andreas; Hildebrandt, Friedhelm 分享 收藏
Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium Caparros-Martin, Jose A.; De Luca, Alessandro; Cartault, Francois; Aglan, Mona; Temtamy, Samia; Otaify, Ghada A.; Mehrez, Mennat; Valencia, Maria; Vazquez, Laura; Alessandri, Jean-Luc; Nevado, Julian; Rueda-Arenas, Inmaculada; Heath, Karen E.; Digilio, Maria Cristina; Dallapiccola, Bruno; Goodship, Judith A.; Mill, Pleasantine; Lapunzina, Pablo; Ruiz-Perez, Victor L. 分享 收藏
Urinary Tract Effects of HPSE2 Mutations Stuart, Helen M.; Roberts, Neil A.; Hilton, Emma N.; McKenzie, Edward A.; Daly, Sarah B.; Hadfield, Kristen D.; Rahal, Jeffery S.; Gardiner, Natalie J.; Tanley, Simon W.; Lewis, Malcolm A.; Sites, Emily; Angle, Brad; Alves, Claudia; Lourenco, Teresa; Rodrigues, Marcia; Calado, Angelina; Amado, Marta; Guerreiro, Nancy; Serras, Ines; Beetz, Christian; Varga, Rita-Eva; Silay, Mesrur Selcuk; Darlow, John M.; Dobson, Mark G.; Barton, David E.; Hunziker, Manuela; Puri, Prem; Feather, Sally A.; Goodship, Judith A.; Goodship, Timothy H. J.; Lambert, Heather J.; Cordell, Heather J.; Saggar, Anand; Kinali, Maria; Lorenz, Christian; Moeller, Kristina; Schaefer, Franz; Bayazit, Aysun K.; Weber, Stefanie; Newman, William G.; Woolf, Adrian S. 分享 收藏
Factors determining penetrance in familial atypical haemolytic uraemic syndrome Sansbury, Francis H.; Cordell, Heather J.; Bingham, Coralie; Bromilow, Gilly; Nicholls, Anthony; Powell, Roy; Shields, Bev; Smyth, Lucy; Warwicker, Paul; Strain, Lisa; Wilson, Valerie; Goodship, Judith A.; Goodship, Timothy H. J.; Turnpenny, Peter D. 分享 收藏
Genotype/Phenotype Correlations in Complement Factor H Deficiency Arising From Uniparental Isodisomy Wilson, Valerie; Darlay, Rebecca; Wong, William; Wood, Katrina M.; McFarlane, Jeannette; Schejbel, Lone; Schmidt, Ida M.; Harris, Claire L.; Tellez, James; Hunze, Eva-Maria; Marchbank, Kevin; Goodship, Judith A.; Goodship, Timothy H. J. 分享 收藏
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16 Cordell, Heather J.; Bentham, Jamie; Topf, Ana; Zelenika, Diana; Heath, Simon; Mamasoula, Chrysovalanto; Cosgrove, Catherine; Blue, Gillian; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Breckpot, Jeroen; Soemedi, Rachel; Martin, Ruairidh; Rahman, Thahira J.; Hall, Darroch; van Engelen, Klaartje; Moorman, Antoon F. M.; Zwinderman, Aelko H.; Barnett, Phil; Koopmann, Tamara T.; Adriaens, Michiel E.; Varro, Andras; George, Alfred L., Jr.; dos Remedios, Christobal; Bishopric, Nanette H.; Bezzina, Connie R.; O'Sullivan, John; Gewillig, Marc; Bu'Lock, Frances A.; Winlaw, David; Bhattacharya, Shoumo; Devriendt, Koen; Brook, J. David; Mulder, Barbara J. M.; Mital, Seema; Postma, Alex V.; Lathrop, G. Mark; Farrall, Martin; Goodship, Judith A.; Keavney, Bernard D. 分享 收藏
Evc Regulates a Symmetrical Response to Shh Signaling in Molar Development Nakatomi, M.; Hovorakova, M.; Gritli-Linde, A.; Blair, H. J.; MacArthur, K.; Peterka, M.; Lesot, H.; Peterkova, R.; Ruiz-Perez, V. L.; Goodship, J. A.; Peters, H. 分享 收藏
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Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization Twigg, Stephen R. F.; Lloyd, Deborah; Jenkins, Dagan; Elcioglu, Nurse E.; Cooper, Christopher D. O.; Al-Sannaa, Nouriya; Annagur, Ali; Gillessen-Kaesbach, Gabriele; Huening, Irina; Knight, Samantha J. L.; Goodship, Judith A.; Keavney, Bernard D.; Beales, Philip L.; Gileadi, Opher; McGowan, Simon J.; Wilkie, Andrew O. M. 分享 收藏
The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia Caparros-Martin, Jose A.; Valencia, Maria; Reytor, Edel; Pacheco, Maria; Fernandez, Margarita; Perez-Aytes, Antonio; Gean, Esther; Lapunzina, Pablo; Peters, Heiko; Goodship, Judith A.; Ruiz-Perez, Victor L. 分享 收藏
Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease 全球罕见拷贝数变异对散发性先天性心脏病风险的贡献 Soemedi, Rachel; Wilson, Ian J.; Bentham, Jamie; Darlay, Rebecca; Toepf, Ana; Zelenika, Diana; Cosgrove, Catherine; Setchfield, Kerry; Thornborough, Chris; Granados-Riveron, Javier; Blue, Gillian M.; Breckpot, Jeroen; Hellens, Stephen; Zwolinkski, Simon; Glen, Elise; Mamasoula, Chrysovalanto; Rahman, Thahira J.; Hall, Darroch; Rauch, Anita; Devriendt, Koenraad; Gewillig, Marc; O' Sullivan, John; Winlaw, David S.; Bu'Lock, Frances; Brook, J. David; Bhattacharya, Shoumo; Lathrop, Mark; Santibanez-Koref, Mauro; Cordell, Heather J.; Goodship, Judith A.; Keavney, Bernard D. 分享 收藏
Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation Tan, Huay L.; Glen, Elise; Toepf, Ana; Hall, Darroch; O'Sulliyan, John J.; Sneddon, Linda; Wren, Christopher; Avery, Peter; Lewis, Richard J.; ten Dijke, Peter; Arthur, Helen M.; Goodship, Judith A.; Keayney, Bernard D. 分享 收藏
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Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls Soemedi, Rachel; Topf, Ana; Wilson, Ian J.; Darlay, Rebecca; Rahman, Thahira; Glen, Elise; Hall, Darroch; Huang, Ni; Bentham, Jamie; Bhattacharya, Shoumo; Cosgrove, Catherine; Brook, J. David; Granados-Riveron, Javier; Setchfield, Kerry; Bu'Lock, Frances; Thornborough, Chris; Devriendt, Koenraad; Breckpot, Jeroen; Hofbeck, Michael; Lathrop, Mark; Rauch, Anita; Blue, Gillian M.; Winlaw, David S.; Hurles, Matthew; Santibanez-Koref, Mauro; Cordell, Heather J.; Goodship, Judith A.; Keavney, Bernard D. 分享 收藏
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