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

Time trends in the male to female ratio for autism incidence: population based, prospectively collected, birth cohort study

自闭症发病率男女比例的时间趋势:基于人群的前瞻性出生队列研究

Fyfe, Caroline; Winell, Henric; Dougherty, Joseph; Gutmann, David H; Kolevzon, Alexander; Marrus, Natasha; Tedroff, Kristina; Turner, Tychele N; Weiss, Lauren A; Yip, Benjamin H K; Yin, Weiyao; Sandin, Sven

De Novo Variation in Autism by Sex and Diagnostic Status in 41,367 Parent-Child Trios

41367个亲子三人组中自闭症的性别和诊断状态的新生变异

Turner, Tychele N

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

Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer

对神经发育障碍和癌症中差异性错义变异聚类的蛋白质组学评估

Ng, Jeffrey K; Chen, Yilin; Akinwe, Titilope M; Heins, Hillary B; Mehinovic, Elvisa; Chang, Yoonhoo; Gutmann, David H; Gurnett, Christina A; Payne, Zachary L; Manuel, Juana G; Karchin, Rachel; Turner, Tychele N

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder

HECTD1基因序列变异会导致不同的神经发育障碍

Zerafati-Jahromi, Gazelle; Oxman, Elias; Hoang, Hieu D; Charng, Wu-Lin; Kotla, Tanvitha; Yuan, Weimin; Ishibashi, Keito; Sebaoui, Sonia; Luedtke, Kathryn; Winrow, Bryce; Ganetzky, Rebecca D; Ruiz, Anna; Manso-Basúz, Carmen; Spataro, Nino; Kannu, Peter; Athey, Taryn; Peroutka, Christina; Barnes, Caitlin; Sidlow, Richard; Anadiotis, George; Magnussen, Kari; Valenzuela, Irene; Moles-Fernandez, Alejandro; Berger, Seth; Grant, Christina L; Vilain, Eric; Arnadottir, Gudny A; Sulem, Patrick; Sulem, Telma S; Stefansson, Kari; Massey, Shavonne; Ginn, Natalie; Poduri, Annapurna; D'Gama, Alissa M; Valentine, Rozalia; Trowbridge, Sara K; Murali, Chaya N; Franciskovich, Rachel; Tran, Yen; Webb, Bryn D; Keppler-Noreuil, Kim M; Hall, April L; McGivern, Bobbi; Monaghan, Kristin G; Guillen Sacoto, Maria J; Baldridge, Dustin; Silverman, Gary A; Dahiya, Sonika; Turner, Tychele N; Schedl, Tim; Corbin, Joshua G; Pak, Stephen C; Zohn, Irene E; Gurnett, Christina A

CNPI: Rapid Analyses of Human Copy Number Data

CNPI:人类拷贝数数据的快速分析

Ustanik, Jack; Turner, Tychele N