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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

Biomarker δ(13)C values record consistent savanna vegetation and variable alkalinity of Lake Olduvai during Pleistocene wet/dry cycles

生物标志物δ(13)C值记录了更新世干湿循环期间奥杜威湖稳定的稀树草原植被和变化的碱度。

Doiron, Kelsey E; Colcord, Devon E; Shilling, Andrea M; Njau, Jackson K; Stanistreet, Ian G; Stollhofen, Harald; Schick, Kathy D; Toth, Nicholas P; Brassell, Simon C

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations

RNU6ATAC双等位基因变异会导致一种轻微的剪接病,其特征是转录组范围内的次要内含子保留和多系统表现。

Mendez, Rodrigo; Arriaga, Taylor M; Ma, Jialan; Bonner, Devon E; Emami, Sara; Levy, Rebecca J; Alsagheir, Afaf; Alhaddad, Bader; Bakur, Khadijah; Ungar, Rachel A; Matalon, Dena R; Miller, Alexander M; Nguyen, Jonathan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Ward, Alistair; Novacic, Danica; Alkuraya, Fowzan S; Bernstein, Jonathan A; Ganesh, Vijay S; O'Donnell-Luria, Anne; Montgomery, Stephen B; Wheeler, Matthew T

Does the definition of human ultra-processed foods apply to dog and cat foods? A review of pet food processing techniques, their impact on health, and a call for pet food processing classification

人类超加工食品的定义是否适用于犬猫食品?本文回顾了宠物食品加工技术及其对健康的影响,并呼吁对宠物食品加工进行分类。

Tanprasertsuk, Jirayu; Tate, Devon E; Tarr, Dominique S; Shmalberg, Justin

Reprogramming mRNA localization by targeted RNA-protein interference

通过靶向RNA-蛋白质干扰重编程mRNA定位

Mason, Devon E; Bandyopadhyay, Diptankar; Jiwnani, Neal; Meyer, Brigitte; Mili, Stavroula

Control of epithelial tissue organization by mRNA localization.

通过mRNA定位控制上皮组织结构

Mason Devon E, Madsen Thomas D, Gasparski Alexander N, Kong Dong, Jiwnani Neal, Lechler Terry, Loncarek Jadranka, Weigert Roberto, Iglesias-Bartolome Ramiro, Mili Stavroula

An RNA-binding regulatory cascade controls the switch from proliferation to differentiation in the Drosophila male germ cell lineage.

RNA 结合调控级联控制着果蝇雄性生殖细胞谱系从增殖到分化的转变

Harris Devon E, Kim Jongmin J, Stern Sarah R, Vicars Hannah M, Matias Neuza R, Gallicchio Lorenzo, Baker Catherine C, Fuller Margaret T

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S