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

A single BRCA2 BRC repeat supports viability while multiple repeats ensure resilience under stress.

单个 BRCA2 BRC 重复序列可维持生存能力,而多个重复序列可确保在压力下保持韧性。

Mishra Arun Prakash, Sahu Sounak, Sengodan Satheesh, Moore Gemma, Priya Swati, Oberoi Natasha, Jensen Julia R, Southon Eileen, Galloux Mellissa, Caylor Dylan, Sullivan Teresa, Burkett Sandra S, Albaugh Mary E, Awasthi Parirokh P, Tomassoni Ardori Francesco, Tessarollo Lino, Jensen Ryan B, Sharan Shyam K

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development

整合复合物亚基INTS6的破坏会导致神经发育障碍,并损害神经发生和突触发育。

Peng, Xiaoxia; Jia, Xiangbin; Wang, Hanying; Chen, Jingjing; Zhang, Xiaolei; Tan, Senwei; Duan, Xinyu; Qiu, Can; Hu, Mengyuan; Hou, Haiyan; Parenti, Ilaria; Kuechler, Alma; Kaiser, Frank J; Renck, Alicia; Caylor, Raymond; Skinner, Cindy; Peeden, Joseph; Cogne, Benjamin; Isidor, Bertrand; Mercier, Sandra; Nicolas, Gael; Guerrot, Anne-Marie; Faletra, Flavio; Musante, Luciana; Cohen, Lior; Bergant, Gaber; Čuturilo, Goran; Peterlin, Borut; Seeley, Andrea; Bachman, Kristine; Martinez-Agosto, Julian A; van Ravenswaaij-Arts, Conny; Bos, Dennis; Kim, Katherine H; Bartolomaeus, Tobias; Schmederer, Zelia; Abou Jamra, Rami; Aref-Eshghi, Erfan; Zhao, Wenjing; Zou, Yongyi; Hu, Zhengmao; Pan, Qian; Li, Faxiang; Chen, Guodong; Li, Jiada; Hu, Zhangxue; Xia, Kun; Tan, Jieqiong; Guo, Hui

Field-scale crop water consumption estimates reveal potential water savings in California agriculture

田间作物耗水量估算揭示加州农业潜在的节水潜力

Anna Boser, Kelly Caylor, Ashley Larsen, Madeleine Pascolini-Campbell, John T Reager, Tamma Carleton

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial

在新生儿重症监护室(NICU)的试点试验中,基于基因组的新生儿筛查对严重儿童遗传疾病具有较高的阳性预测值和敏感性。

Kingsmore, Stephen F; Wright, Meredith; Olsen, Lauren; Schultz, Brandan; Protopsaltis, Liana; Averbuj, Dan; Blincow, Eric; Carroll, Jeanne; Caylor, Sara; Defay, Thomas; Ellsworth, Katarzyna; Feigenbaum, Annette; Gover, Mia; Guidugli, Lucia; Hansen, Christian; Van Der Kraan, Lucita; Kunard, Chris M; Kwon, Hugh; Madhavrao, Lakshminarasimha; Leipzig, Jeremy; Liang, Yupu; Mardach, Rebecca; Mowrey, William R; Nguyen, Hung; Niemi, Anna-Kaisa; Oh, Danny; Saad, Muhammed; Scharer, Gunter; Schleit, Jennifer; Mehtalia, Shyamal S; Sanford, Erica; Smith, Laurie D; Willis, Mary J; Wigby, Kristen; Reimers, Rebecca

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

通过基于纯化超选择的联邦训练,对基于基因组的新生儿筛查进行严重儿童遗传疾病的预认证

Kingsmore Stephen F, Wright Meredith, Smith Laurie D, Liang Yupu, Mowrey William R, Protopsaltis Liana, Bainbridge Matthew, Baker Mei, Batalov Sergey, Blincow Eric, Cao Bryant, Caylor Sara, Chambers Christina, Ellsworth Katarzyna, Feigenbaum Annette, Frise Erwin, Guidugli Lucia, Hall Kevin P, Hansen Christian, Kiel Mark, Van Der Kraan Lucita, Krilow Chad, Kwon Hugh, Madhavrao Lakshminarasimha, Lefebvre Sebastien, Leipzig Jeremy, Mardach Rebecca, Moore Barry, Oh Danny, Olsen Lauren, Ontiveros Eric, Owen Mallory J, Reimers Rebecca, Scharer Gunter, Schleit Jennifer, Shelnutt Seth, Mehtalia Shyamal S, Oriol Albert, Sanford Erica, Schwartz Steve, Wigby Kristen, Willis Mary J, Yandell Mark, Kunard Chris M, Defay Thomas

Interleukin-10 enhances activity of ventral tegmental area dopamine neurons resulting in increased dopamine release

白细胞介素-10 增强腹侧被盖区多巴胺神经元的活动,从而增加多巴胺释放

Joakim W Ronström, Stephanie B Williams, Andrew Payne, Daniel J Obray, Caylor Hafen, Matthew Burris, K Scott Weber, Scott C Steffensen, Jordan T Yorgason

Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy

鉴定出 Renpenning 综合征 (RENS1) 的 DNA 甲基化特征,一种剪接病

Haghshenas, Sadegheh; Foroutan, Aidin; Bhai, Pratibha; Levy, Michael A; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Skinner, Cindy D; Caylor, Raymond C; Tedder, Matthew L; Stevenson, Roger E; Sadikovic, Bekim; Schwartz, Charles E

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders

对DEAF1相关神经发育障碍中新生DEAF1变异的扩展和机制性见解

Stacey R McGee,Shivakumar Rajamanickam,Sandeep Adhikari,Oluwatosin C Falayi, Theresa A Wilson,Brian J Shayota,Jessica A Cooley Coleman,Cindy Skinner,Raymond C Caylor,Roger E Stevenson,Caio Robledo D' Angioli Costa Quaio,Berenice Cunha Wilke,Jennifer M Bain,Kwame Anyane-Yeboa,Kaitlyn Brown,John M Greally,Emilia K Bijlsma,Claudia A L Ruivenkamp,Keren Politi,Lydia A Arbogast,Michael W Collard,Jodi I Huggenvik,Sarah H Elsea,Philip J Jensik

Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan's Project Baby Deer

突破儿科快速全基因组测序的障碍:密歇根州的“小鹿计划”

Bupp, Caleb P; Ames, Elizabeth G; Arenchild, Madison K; Caylor, Sara; Dimmock, David P; Fakhoury, Joseph D; Karna, Padmani; Lehman, April; Meghea, Cristian I; Misra, Vinod; Nolan, Danielle A; O'Shea, Jessica; Sharangpani, Aditi; Franck, Linda S; Scheurer-Monaghan, Andrea

Protocol for the saturation and multiplexing of genetic variants using CRISPR-Cas9

使用 CRISPR-Cas9 进行遗传变异饱和和复用的方案

Sounak Sahu, Teresa Sullivan, Eileen Southon, Dylan Caylor, Josephine Geh, Shyam K Sharan