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

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

Pathogenic morphological signatures of perturbations in mitochondrial-related genes revealed by pooled imaging assay.

通过联合成像分析揭示线粒体相关基因扰动的致病形态学特征

Kremitzki Colin, Waligorski Jason, Bachman Graham, Ali Lina Mohammed, Bramley John, Vakaki Maria, Chandrasekaran Vinay, Patel Purva, Mathur Dhruv, Hime Paul, Mitra Robi, Milbrandt Jeff, Buchser William

Pooled image-base screening of mitochondria with microraft isolation distinguishes pathogenic mitofusin 2 mutations

利用微筏分离技术对线粒体进行基于图像的混合筛选,可区分致病性线粒体融合蛋白2突变

Alex L Yenkin ,John C Bramley ,Colin L Kremitzki ,Jason E Waligorski ,Mariel J Liebeskind ,Xinyuan E Xu ,Vinay D Chandrasekaran ,Maria A Vakaki ,Graham W Bachman ,Robi D Mitra ,Jeffrey D Milbrandt ,William J Buchser

The structure, function and evolution of a complete human chromosome 8

人类8号染色体的完整结构、功能和进化

Glennis A Logsdon, Mitchell R Vollger, PingHsun Hsieh, Yafei Mao, Mikhail A Liskovykh, Sergey Koren, Sergey Nurk, Ludovica Mercuri, Philip C Dishuck, Arang Rhie, Leonardo G de Lima, Tatiana Dvorkina, David Porubsky, William T Harvey, Alla Mikheenko, Andrey V Bzikadze, Milinn Kremitzki, Tina A Graves

A new domestic cat genome assembly based on long sequence reads empowers feline genomic medicine and identifies a novel gene for dwarfism

基于长序列读取的新型家猫基因组组装为猫科动物基因组医学提供了助力,并鉴定出了一种新的侏儒症基因

Reuben M Buckley, Brian W Davis, Wesley A Brashear, Fabiana H G Farias, Kei Kuroki, Tina Graves, LaDeana W Hillier, Milinn Kremitzki, Gang Li, Rondo P Middleton, Patrick Minx, Chad Tomlinson, Leslie A Lyons, William J Murphy, Wesley C Warren

Higher-order genome organization in platypus and chicken sperm and repositioning of sex chromosomes during mammalian evolution

鸭嘴兽和鸡精子中高级基因组的组织结构以及哺乳动物进化过程中性染色体的重新定位

Tsend-Ayush, Enkhjargal; Dodge, Natasha; Mohr, Julia; Casey, Aaron; Himmelbauer, Heinz; Kremitzki, Colin L; Schatzkamer, Kyriena; Graves, Tina; Warren, Wesley C; Grützner, Frank

Bird-like sex chromosomes of platypus imply recent origin of mammal sex chromosomes

鸭嘴兽的性染色体与鸟类相似,这表明哺乳动物的性染色体起源于近期。

Veyrunes, Frédéric; Waters, Paul D; Miethke, Pat; Rens, Willem; McMillan, Daniel; Alsop, Amber E; Grützner, Frank; Deakin, Janine E; Whittington, Camilla M; Schatzkamer, Kyriena; Kremitzki, Colin L; Graves, Tina; Ferguson-Smith, Malcolm A; Warren, Wes; Marshall Graves, Jennifer A