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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

扩大儿科全基因组测序的应用:来自SeqFirst服务提供商的见解,有助于实现精准基因诊断的公平获取。

Yu, Joon-Ho; MacDuffie, Katherine E; Sommerland, Olivia; Theoryn, Tesla; Murali, Priyanka; Anderson, Kailyn; Sikes, Megan; Kruidenier, Lukas; Gildersleeve, Heidi I S; Scott, Abbey; Buckingham, Kati J; McWalter, Kirsty; Kruszka, Paul; Keefe, Alexandra C; Chong, Jessica X; Veenstra, David L; Dipple, Katrina M; Wenger, Tara; Doherty, Dan; Bamshad, Michael J

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Clinical Utility of [F18]-Fluciclovine PET/MRI for Differentiating True Progression from Treatment-Related Changes in Patients with Glioblastoma

[F18]-氟西洛文PET/MRI在鉴别胶质母细胞瘤患者真实进展与治疗相关改变中的临床应用价值

Ivanidze, Jana; Vu, Kellen Vo; Fu, Rongwei; Brandmaier, Andrew; Szidonya, Laszlo; Choudhary, Gagandeep; Starkey, Jay; Wang, Tony J; Sisti, Michael; McKhann, L Guy; Puri, Sushant; Konner, Marcus; Roytman, Michelle; Lin, Eaton; Kuhn, Andrew; Osborne, Joseph R; Stieg, Philip E; Beal, Kathryn; Ramakrishna, Rohan R; Singh, Gagandeep; Lignelli-Dipple, Angela; Doubrovin, Mikhail; Vo, Anh Huan; Welch, Mary; Iwamoto, Fabio; Haggiagi, Aya; Donovan, Laura; Diaz, Maria; Gill, Brian; Liechty, Benjamin; Pisapia, David J; Walker, Josh; Magge, Rajiv S; Wood, Matthew; Corzo, Valentina Marulanda; Sanusi, Olabisi R; Raslan, Ahmed; Dogan, Aclan; Bowden, Stephen; Nehmeh, Sadek A; Nickerson, Joshua; Mallak, Nadine; Ruiz, Amber; Ambady, Prakash; Nabavizadeh, Ali; Barajas, Ramon F Jr

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder

拓展复制因子C复合物相关疾病的遗传和表型图谱:RFC4缺陷与多系统疾病相关

Marie Morimoto,Eunjin Ryu,Benjamin J Steger,Abhijit Dixit,Yoshihiko Saito,Juyeong Yoo,Amelie T van der Ven,Natalie Hauser,Peter J Steinbach,Kazumasa Oura,Alden Y Huang,Fanny Kortüm,Shinsuke Ninomiya,Elisabeth A Rosenthal,Hannah K Robinson,Katie Guegan,Jonas Denecke,Sankarasubramoney H Subramony,Callie J Diamonstein,Jie Ping,Mark Fenner,Elsa V Balton,Sam Strohbehn,Aimee Allworth,Michael J Bamshad,Mahi Gandhi,Katrina M Dipple,Elizabeth E Blue,Gail P Jarvik  ; University of Washington Center for Rare Disease Research; C Christopher Lau,Ingrid A Holm,Monika Weisz-Hubshman,Benjamin D Solomon  ; Undiagnosed Diseases Network; Stanley F Nelson,Ichizo Nishino,David R Adams,Sukhyun Kang,William A Gahl,Camilo Toro,Kyungjae Myung,May Christine V Malicdan

A techno-economic analysis of diesel exhaust injection into mine tailings for carbon sequestration

柴油机尾气注入矿山尾矿进行碳封存的技术经济分析

Baidya, Durjoy; Dipple, Gregory; Ghoreishi-Madiseh, Seyed Ali

A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families

ATP5PO 中的纯合剪接变体会破坏线粒体复合体 V 的功能,并在两个不相关的家庭中引起 Leigh 综合征

Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blond

COVID-19 neuropathology at Columbia University Irving Medical Center/New York Presbyterian Hospital.

哥伦比亚大学欧文医学中心/纽约长老会医院的 COVID-19 神经病理学研究

Thakur Kiran T, Miller Emily Happy, Glendinning Michael D, Al-Dalahmah Osama, Banu Matei A, Boehme Amelia K, Boubour Alexandra L, Bruce Samuel S, Chong Alexander M, Claassen Jan, Faust Phyllis L, Hargus Gunnar, Hickman Richard A, Jambawalikar Sachin, Khandji Alexander G, Kim Carla Y, Klein Robyn S, Lignelli-Dipple Angela, Lin Chun-Chieh, Liu Yang, Miller Michael L, Moonis Gul, Nordvig Anna S, Overdevest Jonathan B, Prust Morgan L, Przedborski Serge, Roth William H, Soung Allison, Tanji Kurenai, Teich Andrew F, Agalliu Dritan, Uhlemann Anne-Catrin, Goldman James E, Canoll Peter

Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations

转录共抑制因子ZMYM2的突变导致综合征性泌尿道畸形

Dervla M Connaughton,Rufeng Dai,Danielle J Owen,Jonathan Marquez,Nina Mann,Adda L Graham-Paquin,Makiko Nakayama,Etienne Coyaud,Estelle M N Laurent,Jonathan R St-Germain,Lot Snijders Blok,Arianna Vino,Verena Klämbt,Konstantin Deutsch,Chen-Han Wilfred Wu,Caroline M Kolvenbach,Franziska Kause,Isabel Ottlewski,Ronen Schneider,Thomas M Kitzler,Amar J Majmundar,Florian Buerger,Ana C Onuchic-Whitford,Mao Youying,Amy Kolb,Daanya Salmanullah,Evan Chen,Amelie T van der Ven,Jia Rao,Hadas Ityel,Steve Seltzsam,Johanna M Rieke,Jing Chen,Asaf Vivante,Daw-Yang Hwang,Stefan Kohl,Gabriel C Dworschak,Tobias Hermle,Mariëlle Alders,Tobias Bartolomaeus,Stuart B Bauer,Michelle A Baum,Eva H Brilstra,Thomas D Challman,Jacob Zyskind,Carrie E Costin , Katrina M Dipple , Floor A Duijkers , Marcia Ferguson , David R Fitzpatrick , Roger Fick , Ian A Glass , Peter J Hulick , Antonie D Kline , Ilona Krey , Selvin Kumar , Weining Lu , Elysa J Marco , Ingrid M Wentzensen,Heather C Mefford , Konrad Platzer,Inna S Povolotskaya , Juliann M Savatt,Natalia V Shcherbakova , Prabha Senguttuvan , Audrey E Squire , Deborah R Stein,Isabelle Thiffault , Victoria Y Voinova , Michael J G Somers,Michael A Ferguson,Avram Z Traum,Ghaleb H Daouk,Ankana Daga,Nancy M Rodig,Paulien A Terhal,Ellen van Binsbergen,Loai A Eid , Velibor Tasic , Hila Milo Rasouly , Tze Y Lim , Dina F Ahram , Ali G Gharavi , Heiko M Reutter , Heidi L Rehm , Daniel G MacArthur , Monkol Lek , Kristen M Laricchia , Richard P Lifton , Hong Xu,Shrikant M Mane , Simone Sanna-Cherchi , Andrew D Sharrocks,Brian Raught,Simon E Fisher , Maxime Bouchard,Mustafa K Khokha,Shirlee Shril,Friedhelm Hildebrandt