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Auricular malformations are driven by copy number variations in a hierarchical enhancer cluster and a dominant enhancer recapitulates human pathogenesis Xu, Xiaopeng; Chen, Qi; Huang, Qingpei; Cox, Timothy C.; Zhu, Hao; Hu, Jintian; Han, Xi; Meng, Ziqiu; Wang, Bingqing; Liao, Zhiying; Xu, Wenxin; Xiao, Baichuan; Lang, Ruirui; Liu, Jiqiang; Huang, Jian; Tang, Xiaokai; Wang, Jinmo; Li, Qiang; Liu, Ting; Zhang, Qingguo; Antonarakis, Stylianos E.; Zhang, Jiao; Liu, Huisheng; Zhang, Yong-Biao Share Save
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Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia Zhu, Hao; Zhang, Jiao; Rao, Soumya; Durbin, Matthew D.; Li, Ying; Lang, Ruirui; Liu, Jiqiang; Xiao, Baichuan; Shan, Hailin; Meng, Ziqiu; Wang, Jinmo; Tang, Xiaokai; Shi, Zhenni; Cox, Liza L.; Zhao, Shouqin; Ware, Stephanie M.; Tan, Tiong Y.; de Silva, Michelle; Gallacher, Lyndon; Liu, Ting; Mi, Jie; Zeng, Changqing; Zheng, Hou-Feng; Zhang, Qingguo; Antonarakis, Stylianos E.; Cox, Timothy C.; Zhang, Yong-Biao Share Save
Genetic Variants in the TBC1D2B Gene Are Associated with Ramon Syndrome and Hereditary Gingival Fibromatosis (vol 25, 8867, 2024) Kularbkaew, Thatphicha; Thongmak, Tipaporn; Sandeth, Phan; Daroontum, Teerada; Durward, Callum S.; Vittayakittipong, Pichai; Duke, Paul; Iamaroon, Anak; Kintarak, Sompid; Intachai, Worrachet; Ngamphiw, Chumpol; Tongsima, Sissades; Jatooratthawichot, Peeranat; Cox, Timothy C.; Cairns, James R. Ketudat; Kantaputra, Piranit Share Save
PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans Li, Qing; Faux, Pierre; Winchester, Emma Wentworth; Yang, Guangrui; Chen, Yingjie; Ramirez, Luis Miguel; Fuentes-Guajardo, Macarena; Poloni, Lauriane; Steimetz, Emilie; Gonzalez-Jose, Rolando; Acuna, Victor; Bortolini, Maria-Catira; Poletti, Giovanni; Gallo, Carla; Rothhammer, Francisco; Rojas, Winston; Zheng, Youyi; Cox, James C.; Patel, Vaishali; Hoffman, Matthew P.; Ding, Li; Peng, Chenchen; Cotney, Justin; Navarro, Nicolas; Cox, Timothy C.; Delgado, Miguel; Adhikari, Kaustubh; Ruiz-Linares, Andres Share Save
A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development Wilderman, Andrea; D'haene, Eva; Baetens, Machteld; Yankee, Tara N.; Winchester, Emma Wentworth; Glidden, Nicole; Roets, Ellen; Van Dorpe, Jo; Janssens, Sandra; Miller, Danny E.; Galey, Miranda; Brown, Kari M.; Stottmann, Rolf W.; Vergult, Sarah; Weaver, K. Nicole; Brugmann, Samantha A.; Cox, Timothy C.; Cotney, Justin Share Save
Recapitulation of POLR3-related hypomyelinating leukodystrophy phenotypes in mice using a PDGFRA-dependent POLR3B exon-loss genetic model Michell-Robinson, Mackenzie; Watt, Kristin; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue; Liu, Hanwen; Cox, Timothy; Mueller, Christoph; Kennedy, Timothy; Coulombe, Benoit; Rudko, David; Trainor, Paul; Bernard, Genevieve Share Save
Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy Michell-Robinson, Mackenzie A.; Watt, Kristin E. N.; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue A.; Liu, Hanwen; Cox, Timothy C.; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David A.; Trainor, Paul A.; Bernard, Genevieve Share Save
Pdgfr α-dependent Polr3b Exon Loss Recapitulates POLR3-related Hypomyelinating Leukodystrophy Phenotypes in vivo Michell-Robinson, Mackenzie A.; Watt, Kristin E. N.; Grouza, Vladimir; Macintosh, Julia; Pinard, Maxime; Tuznik, Marius; Chen, Xiaoru; Darbelli, Lama; Wu, Chia-Lun; Perrier, Stefanie; Chitsaz, Daryan; Uccelli, Nonthue A.; Liu, Hanwen; Cox, Timothy; Mueller, Christoph W.; Kennedy, Timothy E.; Coulombe, Benoit; Rudko, David; Trainor, Paul A.; Bernard, Genevieve Share Save
FOXI3 pathogenic variants cause one form of craniofacial microsomia Mao, Ke; Borel, Christelle; Ansar, Muhammad; Jolly, Angad; Makrythanasis, Periklis; Froehlich, Christine; Iwaszkiewicz, Justyna; Wang, Bingqing; Xu, Xiaopeng; Li, Qiang; Blanc, Xavier; Zhu, Hao; Chen, Qi; Jin, Fujun; Ankamreddy, Harinarayana; Singh, Sunita; Zhang, Hongyuan; Wang, Xiaogang; Chen, Peiwei; Ranza, Emmanuelle; Paracha, Sohail Aziz; Shah, Syed Fahim; Guida, Valentina; Piceci-Sparascio, Francesca; Melis, Daniela; Dallapiccola, Bruno; Digilio, Maria Cristina; Novelli, Antonio; Magliozzi, Monia; Fadda, Maria Teresa; Streff, Haley; Machol, Keren; Lewis, Richard A.; Zoete, Vincent; Squeo, Gabriella Maria; Prontera, Paolo; Mancano, Giorgia; Gori, Giulia; Mariani, Milena; Selicorni, Angelo; Psoni, Stavroula; Fryssira, Helen; Douzgou, Sofia; Marlin, Sandrine; Biskup, Saskia; De Luca, Alessandro; Merla, Giuseppe; Zhao, Shouqin; Cox, Timothy C.; Groves, Andrew K.; Lupski, James R.; Zhang, Qingguo; Zhang, Yong-Biao; Antonarakis, Stylianos E. Share Save
Rare Variants in LRP4 Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans Kantaputra, Piranit Nik; Jatooratthawichot, Peeranat; Adisornkanj, Ploy; Kitsadayurach, Panita; Kaewgahya, Massupa; Olsen, Bjorn; Ohazama, Atsushi; Ngamphiw, Chumpol; Tongsima, Sissades; Cox, Timothy C.; Ketudat Cairns, James R. Share Save
TRIM18 is a critical regulator of viral myocarditis and organ inflammation Fang, Mingli; Zhang, Ao; Du, Yong; Lu, Wenting; Wang, Junying; Minze, Laurie J.; Cox, Timothy C.; Li, Xian Chang; Xing, Junji; Zhang, Zhiqiang Share Save
Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants Kanai, Stanley M.; Heffner, Caleb; Cox, Timothy C.; Cunningham, Michael L.; Perez, Francisco A.; Bauer, Aaron M.; Reigan, Philip; Carter, Cristan; Murray, Stephen A.; Clouthier, David E. Share Save
The E3 ligase TRIM1 ubiquitinates LRRK2 and controls its localization, degradation, and toxicity Stormo, Adrienne E. D.; Shavarebi, Farbod; FitzGibbon, Molly; Earley, Elizabeth M.; Ahrendt, Hannah; Lum, Lotus S.; Verschueren, Erik; Swaney, Danielle L.; Skibinski, Gaia; Ravisankar, Abinaya; van Haren, Jeffrey; Davis, Emily J.; Johnson, Jeffrey R.; Von Dollen, John; Balen, Carson; Porath, Jacob; Crosio, Claudia; Mirescu, Christian; Iaccarino, Ciro; Dauer, William T.; Nichols, R. Jeremy; Wittmann, Torsten; Cox, Timothy C.; Finkbeiner, Steve; Krogan, Nevan J.; Oakes, Scott A.; Hiniker, Annie Share Save
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Response to Biesecker et al. Biesecker, Leslie G.; Adam, Margaret P.; Alkuraya, Fowzan S.; Amemiya, Anne R.; Bamshad, Michael J.; Beck, Anita E.; Bennett, James T.; Bird, Lynne M.; Carey, John C.; Chung, Brian; Clark, Robin D.; Cox, Timothy C.; Curry, Cynthia; Dinulos, Mary Beth Palko; Dobyns, William B.; Giampietro, Philip F.; Girisha, Katta M.; Glass, Ian A.; Graham, John M., Jr.; Gripp, Karen W.; Haldeman-Englert, Chad R.; Hall, Bryan D.; Innes, A. Micheil; Kalish, Jennifer M.; Keppler-Noreuil, Kim M.; Kosaki, Kenjiro; Kozel, Beth A.; Mirzaa, Ghayda M.; Mulvihill, John J.; Nowaczyk, Malgorzata J. M.; Pagon, Roberta A.; Retterer, Kyle; Rope, Alan F.; Sanchez-Lara, Pedro A.; Seaver, Laurie H.; Shieh, Joseph T.; Slavotinek, Anne M.; Sobering, Andrew K.; Stevens, Cathy A.; Stevenson, David A.; Tan, Tiong Yang; Tan, Wen-Hann; Tsai, Anne C.; Weaver, David D.; Williams, Marc S.; Zackai, Elaine; Zarate, Yuri A. Share Save
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome Li, Dong; March, Michael E.; Fortugno, Paola; Cox, Liza L.; Matsuoka, Leticia S.; Monetta, Rosanna; Seiler, Christoph; Pyle, Louise C.; Bedoukian, Emma C.; Jose Sanchez-Soler, Maria; Caluseriu, Oana; Grand, Katheryn; Tam, Allison; Aycinena, Alicia R. P.; Camerota, Letizia; Guo, Yiran; Sleiman, Patrick; Callewaert, Bert; Kumps, Candy; Dheedene, Annelies; Buckley, Michael; Kirk, Edwin P.; Turner, Anne; Kamien, Benjamin; Patel, Chirag; Wilson, Meredith; Roscioli, Tony; Christodoulou, John; Cox, Timothy C.; Zackai, Elaine H.; Brancati, Francesco; Hakonarson, Hakon; Bhoj, Elizabeth J. Share Save
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation Bonfante, Betty; Faux, Pierre; Navarro, Nicolas; Mendoza-Revilla, Javier; Dubied, Morgane; Montillot, Charlotte; Wentworth, Emma; Poloni, Lauriane; Varon-Gonzalez, Ceferino; Jones, Philip; Xiong, Ziyi; Fuentes-Guajardo, Macarena; Palmal, Sagnik; Chacon-Duque, Juan Camilo; Hurtado, Malena; Villegas, Valeria; Granja, Vanessa; Jaramillo, Claudia; Arias, William; Barquera, Rodrigo; Everardo-Martinez, Paola; Sanchez-Quinto, Mirsha; Gomez-Valdes, Jorge; Villamil-Ramirez, Hugo; de Cerqueira, Caio C. Silva; Hunemeier, Tabita; Ramallo, Virginia; Liu, Fan; Weinber, Seth M.; Shaffer, John R.; Stergiakouli, Evie; Howe, Laurence J.; Hysi, Pirro G.; Spector, Timothy D.; Gonzalez-Jose, Rolando; Schuler-Faccini, Lavinia; Bortolini, Ria-Catira; Acuna-Alonzo, Victor; Canizales-Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Thauvin-Robinet, Christel; Faivre, Laurence; Costedoat, Caroline; Balding, David; Cox, Timothy; Kayser, Manfred; Duplomb, Laurence; Yalcin, Binnaz; Cotney, Justin; Adhikari, Kaustubh; Ruiz-Linares, Andres Share Save
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