日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Multi-omics Differential Inference for Functional Interpretation (MoDIFI): A Statistical Framework to Prioritize Cell Lines for Neurodevelopmental Variants

用于功能解释的多组学差异推断(MoDIFI):一种用于优先筛选神经发育变异细胞系的统计框架

Vr, Arvinden; Shaw, Grace Tzun-Wen; Manuel, Juana; Mosbruger, Timothy L; Heins, Hillary; Ng, Jeffrey K; Kim, Haedong; Hayeck, Tristan J; Turner, Tychele N

Whole Genome Sequencing Reveals a RET Enhancer Risk Haplotype Associated with Hirschsprung Disease in Mowat Wilson Syndrome

全基因组测序揭示了与莫瓦特-威尔逊综合征中的先天性巨结肠相关的RET增强子风险单倍型

Collins, Sydney; Bah, Ibrahim; Pysar, Ryan; Mowat, David; Turner, Tychele N; Chatterjee, Sumantra

Human-specific gene expansions contribute to brain evolution.

人类特有的基因扩增促进了大脑的进化

Soto Daniela C, Uribe-Salazar José M, Kaya Gulhan, Valdarrago Ricardo, Sekar Aarthi, Haghani Nicholas K, Hino Keiko, La Gabriana, Mariano Natasha Ann F, Ingamells Cole, Baraban Aidan, Jamal Zoeb, Turner Tychele N, Green Eric D, Simó Sergi, Quon Gerald, Andrés Aida M, Dennis Megan Y

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Generation and characterization of a knockout mouse of an enhancer of EBF3

EBF3增强子敲除小鼠的构建与表征

Cordova Hurtado, Emily; Wotton, Janine M; Gulka, Alexander; Burke, Crystal; Ng, Jeffrey K; Bah, Ibrahim; Manuel, Juana; Heins, Hillary; Murray, Stephen A; Gorkin, David U; White, Jacqueline K; Peterson, Kevin A; Turner, Tychele N

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Examining Sex Differences in Autism Heritability

研究自闭症遗传性的性别差异

Sandin, Sven; Yip, Benjamin H K; Yin, Weiyao; Weiss, Lauren A; Dougherty, Joseph D; Fass, Stuart; Constantino, John N; Hailin, Zhu; Turner, Tychele N; Marrus, Natasha; Gutmann, David H; Sanders, Stephan J; Christoffersson, Benjamin

Using a new analytic approach for genotyping and phenotyping chromosome 9p deletion syndrome

利用一种新的分析方法对9p染色体缺失综合征进行基因分型和表型分析

Starosta, Rodrigo Tzovenos; Jensen, Nathaniel; Couteranis, Sophia; Slaugh, Rachel; Easterlin, Dawn; Tate, Victoria; Sams, Eleanor I; Valle, Kostandin; Akinwe, Titilope; Hou, Ying-Chen Claire; Turner, Tychele N; Cole, F Sessions; Milbrandt, Jeffrey; Dickson, Patricia

The Impact of Patterns in Linkage Disequilibrium and Sequencing Quality on the Imprint of Balancing Selection

连锁不平衡模式和测序质量对平衡选择印记的影响

Hayeck, Tristan J; Li, Yang; Mosbruger, Timothy L; Bradfield, Jonathan P; Gleason, Adam G; Damianos, George; Shaw, Grace Tzun-Wen; Duke, Jamie L; Conlin, Laura K; Turner, Tychele N; Fernández-Viña, Marcelo A; Sarmady, Mahdi; Monos, Dimitri S