未登录 分享 收藏
Heritability of Long-Term Complications in Classic Galactosemia 经典半乳糖血症长期并发症的遗传力 Garrett, Olivia S.; Smith, Nicole H.; Cutler, David J.; Wu, Yuhan; Knerr, Ina; Pereira, Doireann; Rubio-Gozalbo, M. Estela; Vos, E. Naomi; Harrison, Megan; Pappas, Kara; Coman, David; Stepien, Karolina M.; Karall, Daniela; Margreitter, Julian; Scholl-Burgi, Sabine; Heisler, Madison A.; Lam, Christina; Mills, Maria R.; Belanger, Emilia; Yu, Andrea C.; Fridovich-Keil, Judith L. 分享 收藏
分享 收藏
Altered inflammatory mucosal signatures within their spatial and cellular context during active ileal Crohn's disease 活动性回肠克罗恩病期间，其空间和细胞背景下改变的炎症性黏膜特征 Kolachala, Vasantha L.; Maddipatla, Sushma Chowdary; Murthy, Shanta; Hwang, Yeonjoo; Dodd, Anne F.; Sharma, Garima; Munasinghe, Sachith; Pelia, Ranjit Singh; Venkateswaran, Suresh; Anbazhagan, Murugadas; Koti, Tarun; Jhita, Navdeep; Joshi, Gaurav N.; Lopez, Chrissy A.; Geem, Duke; Yin, Hong; Cutler, David J.; Qiu, Peng; Matthews, Jason D.; Kugathasan, Subra 分享 收藏
THE ALLELIC ARCHITECTURE OF RARE VARIATION IN AUTISM AND OTHER NEURODEVELOPMENTAL CONDITIONS Fu, Jack; Satterstrom, F. Kyle; McWalter, Kirsty; Brand, Harrison; Kueffner, Robert; Cutler, David; Samocha, Kaitlin; Robinson, Elise; Buxbaum, Joseph; Devlin, Bernie; Roeder, Kathryn; Kruszka, Paul; Sanders, Stephan; Daly, Mark; Talkowski, Michael 分享 收藏
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting Perez, Kimberly K. Diaz; Curtis, Sarah W.; Sanchis-Juan, Alba; Zhao, Xuefang; Head, Taylor; Ho, Samantha; Carter, Bridget; McHenry, Toby; Bishop, Madison R.; Valencia-Ramirez, Luz C.; Restrepo, Claudia; Hecht, Jacqueline T.; Uribe, Lina M.; Wehby, George; Weinberg, Seth M.; Beaty, Terri H.; Murray, Jeffrey C.; Feingold, Eleanor; Marazita, Mary L.; Cutler, David J.; Epstein, Michael P.; Brand, Harrison; Leslie, Elizabeth J. 分享 收藏
Trio-based GWAS identifies novel associations and subtype-specific risk factors for cleft palate Robinson, Kelsey; Mosley, Trenell J.; Rivera-Gonzalez, Kenneth S.; Jabbarpour, Christopher R.; Curtis, Sarah W.; Adeyemo, Wasiu Lanre; Beaty, Terri H.; Butali, Azeez; Buxo, Carmen J.; Cutler, David J.; Epstein, Michael P.; Gowans, Lord J. J.; Hecht, Jacqueline T.; Murray, Jeffrey C.; Shaw, Gary M.; Uribe, Lina Moreno; Weinberg, Seth M.; Brand, Harrison; Marazita, Mary L.; Lipinski, Robert J.; Leslie, Elizabeth J. 分享 收藏
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes Curtis, Sarah W.; Carlson, Jenna C.; Beaty, Terri H.; Murray, Jeffrey C.; Weinberg, Seth M.; Marazita, Mary L.; Cotney, Justin L.; Cutler, David J.; Epstein, Michael P.; Leslie, Elizabeth J. 分享 收藏
Sex differences in brain protein expression and disease Wingo, Aliza P.; Liu, Yue; Gerasimov, Ekaterina S.; Vattathil, Selina M.; Liu, Jiaqi; Cutler, David J.; Epstein, Michael P.; Blokland, Gabriella A. M.; Thambisetty, Madhav; Troncoso, Juan C.; Duong, Duc M.; Bennett, David A.; Levey, Allan I.; Seyfried, Nicholas T.; Wingo, Thomas S. 分享 收藏
分享 收藏
Longitudinal DNA methylation profiling of the rectal mucosa identifies cell-specific signatures of disease status, severity and clinical outcomes in ulcerative colitis cell-specific DNA methylation signatures of UC Venkateswaran, Suresh; Somineni, Hari K. K.; Matthews, Jason D. D.; Kilaru, Varun; Hyams, Jeffrey S. S.; Denson, Lee A. A.; Kellamayer, Richard; Gibson, Greg; Cutler, David J. J.; Conneely, Karen N. N.; Smith, Alicia K. K.; Kugathasan, Subra 分享 收藏
Characterization of Intestinal Mesenchymal Stromal Cells From Patients With Inflammatory Bowel Disease for Autologous Cell Therapy Anbazhagan, Murugadas; Geem, Duke; Venkateswaran, Suresh; Pelia, Ranjit; Kolachala, Vasantha L.; Dodd, Anne; Maddipatla, Sushma C.; Cutler, David J.; Matthews, Jason D.; Chinnadurai, Raghavan; Kugathasan, Subra 分享 收藏
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome Elias-Mas, Andrea; Potrony, Miriam; Bague, Jaume; Cutler, David J. J.; Alvarez-Mora, Maria Isabel; Torres, Teresa; Barcos, Tamara; Puig-Butille, Joan Anton; Rubio, Marta; Madrigal, Irene; Puig, Susana; Allen, Emily G. G.; Rodriguez-Revenga, Laia 分享 收藏
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism 罕见的编码变异提供了对自闭症遗传结构和表型背景的洞察 Fu, Jack M.; Satterstrom, F. Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P.; Stevens, Christine R.; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B.; Gauthier, Laura; Lee, Samuel K.; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N.; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H. Y.; Cook, Edwin H.; Cuccaro, Michael L.; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J. Jay; Herman, Gail E.; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S.; Passos-Bueno, Maria Rita; Persico, Antonio M.; Renieri, Alessandra; Sutcliffe, James S.; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C. Y.; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N.; Schmidt, Rebecca J.; Smith, Moyra; Costa, Claudia I. S.; Trajkova, Slavica; Wang, Jaqueline Y. T.; Yu, Mullin H. C.; Cutler, David J.; De Rubeis, Silvia; Buxbaum, Joseph D.; Daly, Mark J.; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J.; Talkowski, Michael E. 分享 收藏
Loss of function of OTUD7A in the schizophrenia-associated 15q13.3 deletion impairs synapse development and function in human neurons 精神分裂症相关的15 q13.3缺失中OTUD7A的功能丧失会损害人类神经元的突触发育和功能 Kozlova, Alena; Zhang, Siwei; Kotlar, Alex, V; Jamison, Brendan; Zhang, Hanwen; Shi, Serena; Forrest, Marc P.; McDaid, John; Cutler, David J.; Epstein, Michael P.; Zwick, Michael E.; Pang, Zhiping P.; Sanders, Alan R.; Warren, Stephen T.; Gejman, Pablo, V; Mulle, Jennifer G.; Duan, Jubao 分享 收藏
LDL cholesterol is associated with higher AD neuropathology burden independent of APOE Wingo, Aliza P.; Vattathil, Selina M.; Liu, Jiaqi; Fan, Wen; Cutler, David J.; Levey, Allan, I; Schneider, Julie A.; Bennett, David A.; Wingo, Thomas S. 分享 收藏
Identification of PSMB5 as a genetic modifier of fragile X-associated tremor/ataxia syndrome 鉴定PSMB5作为脆性X相关震颤/共济失调综合征的遗传调节剂 Kong, Ha Eun; Lim, Junghwa; Linsalata, Alexander; Kang, Yunhee; Malik, Indranil; Allen, Emily G.; Cao, Yiqu; Shubeck, Lisa; Johnston, Rich; Huang, Yanting; Gu, Yanghong; Guo, Xiangxue; Zwick, Michael E.; Qin, Zhaohui; Wingo, Thomas S.; Juncos, Jorge; Nelson, David L.; Epstein, Michael P.; Cutler, David J.; Todd, Peter K.; Sherman, Stephanie L.; Warren, Stephen T.; Jin, Peng 分享 收藏
分享 收藏
MODELING THE LOSS-OF-FUNCTION MUTATION OF OTUD7A WITHIN THE SCHIZOPHRENIA-ASSOCIATED 15Q13.3 MICRODELETION IN HUMAN NEURONS Kozlova, Alena; Zhang, Siwei; Kotlar, Alex; McDaid, John; Forrest, Marc P.; Zhang, Hanwen; Jamison, Brendan; Cutler, David; Zwick, Michael; Pang, Zhiping; Sanders, Alan R.; Warren, Stephen T.; Gejman, Pablo V.; Mulle, Jennifer G.; Duan, Jubao 分享 收藏
GENE DISCOVERY FROM EXOME SEQUENCING IN AUTISM AND COMPARISON TO DEVELOPMENTAL DELAY AND SCHIZOPHRENIA Satterstrom, F. Kyle; Fu, Jack; Peng, Minshi; Brand, Harrison; Collins, Ryan L.; Dong, Shan; Borglum, Anders D.; Robinson, Elise B.; Cutler, David J.; Buxbaum, Joseph D.; Daly, Mark J.; Roeder, Kathryn; Devlin, Bernie; Sanders, Stephan J.; Talkowski, Michael E. 分享 收藏
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
分享.png){kind=icon}
收藏
未登录.png){kind=icon}