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

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

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids.

MEF2C自闭症患者hiPSC神经元和脑类器官中miRNA表达和兴奋失调

Trudler Dorit, Ghatak Swagata, Bula Michael, Parker James, Talantova Maria, Luevanos Melissa, Labra Sergio, Grabauskas Titas, Noveral Sarah Moore, Teranaka Mayu, Schahrer Emily, Dolatabadi Nima, Bakker Clare, Lopez Kevin, Sultan Abdullah, Patel Parth, Chan Agnes, Choi Yongwook, Kawaguchi Riki, Stankiewicz Pawel, Garcia-Bassets Ivan, Kozbial Piotr, Rosenfeld Michael G, Nakanishi Nobuki, Geschwind Daniel H, Chan Shing Fai, Lin Wei, Schork Nicholas J, Ambasudhan Rajesh, Lipton Stuart A

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

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia

单细胞多组学鉴定肺泡毛细血管发育不良相关的细胞和基因网络

Guo, Minzhe; Wikenheiser-Brokamp, Kathryn A; Kitzmiller, Joseph A; Jiang, Cheng; Wang, Guolun; Wang, Allen; Preissl, Sebastian; Hou, Xiaomeng; Buchanan, Justin; Karolak, Justyna A; Miao, Yifei; Frank, David B; Zacharias, William J; Sun, Xin; Xu, Yan; Gu, Mingxia; Stankiewicz, Pawel; Kalinichenko, Vladimir V; Wambach, Jennifer A; Whitsett, Jeffrey A

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

Sin3/HDAC 核心抑制复合物成员 SIN3B 的单倍体不足会导致综合征型智力障碍/自闭症谱系障碍

Latypova, Xenia; Vincent, Marie; Mollé, Alice; Adebambo, Oluwadamilare A; Fourgeux, Cynthia; Khan, Tahir N; Caro, Alfonso; Rosello, Monica; Orellana, Carmen; Niyazov, Dmitriy; Lederer, Damien; Deprez, Marie; Capri, Yline; Kannu, Peter; Tabet, Anne Claude; Levy, Jonathan; Aten, Emmelien; den Hollander, Nicolette; Splitt, Miranda; Walia, Jagdeep; Immken, Ladonna L; Stankiewicz, Pawel; McWalter, Kirsty; Suchy, Sharon; Louie, Raymond J; Bell, Shannon; Stevenson, Roger E; Rousseau, Justine; Willem, Catherine; Retiere, Christelle; Yang, Xiang-Jiao; Campeau, Philippe M; Martinez, Francisco; Rosenfeld, Jill A; Le Caignec, Cédric; Küry, Sébastien; Mercier, Sandra; Moradkhani, Kamran; Conrad, Solène; Besnard, Thomas; Cogné, Benjamin; Katsanis, Nicholas; Bézieau, Stéphane; Poschmann, Jeremie; Davis, Erica E; Isidor, Bertrand

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

BPTF相关神经发育障碍的表型扩展,表现为面部畸形和远端肢体异常

Glinton, Kevin E; Hurst, Anna C E; Bowling, Kevin M; Cristian, Ingrid; Haynes, Devon; Adstamongkonkul, Dusit; Schnappauf, Oskar; Beck, David B; Brewer, Carole; Parikh, Aditi Shah; Shinde, Deepali N; Donaldson, Alan; Brautbar, Ariel; Koene, Saskia; van Haeringen, Arie; Piton, Amélie; Capri, Yline; Furlan, Margherita; Gardella, Elena; Møller, Rikke Steensbjerre; van de Beek, Irma; Zuurbier, Linda; Lakeman, Phillis; Bayat, Allan; Martinez, Julian; Signer, Rebecca; Torring, Pernille M; Engelund, Morten Buch; Gripp, Karen W; Amlie-Wolf, Louise; Henderson, Lindsay B; Midro, Alina T; Tarasów, Eugeniusz; Stasiewicz-Jarocka, Beata; Moskal-Jasinska, Diana; Vos, Paul; Boschann, Felix; Stoltenburg, Corinna; Puk, Oliver; Mero, Inger-Lise; Lossius, Kristine; Mignot, Cyril; Keren, Boris; Acosta Guio, Johanna C; Briceño, Ignacio; Gomez, Alberto; Yang, Yaping; Stankiewicz, Pawel

Clinical genomics and contextualizing genome variation in the diagnostic laboratory

临床基因组学及诊断实验室中基因组变异的背景分析

Lupski, James R; Liu, Pengfei; Stankiewicz, Pawel; Carvalho, Claudia M B; Posey, Jennifer E

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

高灵敏度阻断剂置换扩增和液滴数字PCR揭示了肺泡毛细血管发育不良伴肺静脉错位家族中低水平的亲代FOXF1体细胞嵌合现象

Karolak, Justyna A; Liu, Qian; Xie, Nina G; Wu, Lucia R; Rocha, Gustavo; Fernandes, Susana; Ho-Ming, Luk; Lo, Ivan F; Mowat, David; Fiorino, Elizabeth K; Edelman, Morris; Fox, Joyce; Hayes, Denise A; Witte, David; Parrott, Ashley; Popek, Edwina; Szafranski, Przemyslaw; Zhang, David Y; Stankiewicz, Pawel

The S52F FOXF1 Mutation Inhibits STAT3 Signaling and Causes Alveolar Capillary Dysplasia

S52F FOXF1 突变抑制 STAT3 信号传导并导致肺泡毛细血管发育不良

Pradhan, Arun; Dunn, Andrew; Ustiyan, Vladimir; Bolte, Craig; Wang, Guolun; Whitsett, Jeffrey A; Zhang, Yufang; Porollo, Alexey; Hu, Yueh-Chiang; Xiao, Rui; Szafranski, Przemyslaw; Shi, Donglu; Stankiewicz, Pawel; Kalin, Tanya V; Kalinichenko, Vladimir V

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

利用微阵列技术检测拷贝数变异和纯合性片段,可在11020例临床外显子组病例中实现更精确的分子诊断。

Dharmadhikari, Avinash V; Ghosh, Rajarshi; Yuan, Bo; Liu, Pengfei; Dai, Hongzheng; Al Masri, Sami; Scull, Jennifer; Posey, Jennifer E; Jiang, Allen H; He, Weimin; Vetrini, Francesco; Braxton, Alicia A; Ward, Patricia; Chiang, Theodore; Qu, Chunjing; Gu, Shen; Shaw, Chad A; Smith, Janice L; Lalani, Seema; Stankiewicz, Pawel; Cheung, Sau-Wai; Bacino, Carlos A; Patel, Ankita; Breman, Amy M; Wang, Xia; Meng, Linyan; Xiao, Rui; Xia, Fan; Muzny, Donna; Gibbs, Richard A; Beaudet, Arthur L; Eng, Christine M; Lupski, James R; Yang, Yaping; Bi, Weimin