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

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

PTEN mutations impair CSF dynamics and cortical networks by dysregulating periventricular neural progenitors.

PTEN 突变会通过扰乱脑室周围神经祖细胞来损害脑脊液动力学和皮层网络

DeSpenza Tyrone Jr, Kiziltug Emre, Allington Garrett, Barson Daniel G, McGee Stephen, O'Connor David, Robert Stephanie M, Mekbib Kedous Y, Nanda Pranav, Greenberg Ana B W, Singh Amrita, Duy Phan Q, Mandino Francesca, Zhao Shujuan, Lynn Anna, Reeves Benjamin C, Marlier Arnaud, Getz Stephanie A, Nelson-Williams Carol, Shimelis Hermela, Walsh Lauren K, Zhang Junhui, Wang Wei, Prina Mackenzi L, OuYang Annaliese, Abdulkareem Asan F, Smith Hannah, Shohfi John, Mehta Neel H, Dennis Evan, Reduron Laetitia R, Hong Jennifer, Butler William, Carter Bob S, Deniz Engin, Lake Evelyn M R, Constable R Todd, Sahin Mustafa, Srivastava Siddharth, Winden Kellen, Hoffman Ellen J, Carlson Marina, Gunel Murat, Lifton Richard P, Alper Seth L, Jin Sheng Chih, Crair Michael C, Moreno-De-Luca Andres, Luikart Bryan W, Kahle Kristopher T

De novo variants disrupt an LDB1-regulated transcriptional network in congenital ventriculomegaly

新生变异破坏了先天性脑室扩大症中 LDB1 调控的转录网络

Allington, Garrett; Mehta, Neel H; Dennis, Evan; Mekbib, Kedous Y; Reeves, Benjamin; Kiziltug, Emre; Chen, Shuang; Zhao, Shujuan; Duy, Phan Q; Saleh, Maha; Ang, Lee C; Fan, Baojian; Nelson-Williams, Carol; Moreno-de-Luca, Andrés; Haider, Shozeb; Lifton, Richard P; Alper, Seth L; McGee, Stephen; Jin, Sheng Chih; Kahle, Kristopher T

A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus.

一种新型的SMARCC1 BAF病与人类脑积水相关的神经祖细胞表观遗传失调有关

Singh Amrita K, Allington Garrett, Viviano Stephen, McGee Stephen, Kiziltug Emre, Ma Shaojie, Zhao Shujuan, Mekbib Kedous Y, Shohfi John P, Duy Phan Q, DeSpenza Tyrone Jr, Furey Charuta G, Reeves Benjamin C, Smith Hannah, Sousa André M M, Cherskov Adriana, Allocco August, Nelson-Williams Carol, Haider Shozeb, Rizvi Syed R A, Alper Seth L, Sestan Nenad, Shimelis Hermela, Walsh Lauren K, Lifton Richard P, Moreno-De-Luca Andres, Jin Sheng Chih, Kruszka Paul, Deniz Engin, Kahle Kristopher T

Systematic analysis of variants escaping nonsense-mediated decay uncovers candidate Mendelian diseases

对逃脱无义介导衰变机制的变异体进行系统分析,揭示了候选孟德尔疾病

Torene, Rebecca I; Guillen Sacoto, Maria J; Millan, Francisca; Zhang, Zhancheng; McGee, Stephen; Oetjens, Matthew; Heise, Elizabeth; Chong, Karen; Sidlow, Richard; O'Grady, Lauren; Sahai, Inderneel; Martin, Christa L; Ledbetter, David H; Myers, Scott M; Mitchell, Kevin J; Retterer, Kyle

Multiomic analyses implicate a neurodevelopmental program in the pathogenesis of cerebral arachnoid cysts

多组学分析表明,神经发育程序与脑蛛网膜囊肿的发病机制有关。

Kundishora, Adam J; Allington, Garrett; McGee, Stephen; Mekbib, Kedous Y; Gainullin, Vladimir; Timberlake, Andrew T; Nelson-Williams, Carol; Kiziltug, Emre; Smith, Hannah; Ocken, Jack; Shohfi, John; Allocco, August; Duy, Phan Q; Elsamadicy, Aladine A; Dong, Weilai; Zhao, Shujuan; Wang, Yung-Chun; Qureshi, Hanya M; DiLuna, Michael L; Mane, Shrikant; Tikhonova, Irina R; Fu, Po-Ying; Castaldi, Christopher; López-Giráldez, Francesc; Knight, James R; Furey, Charuta G; Carter, Bob S; Haider, Shozeb; Moreno-De-Luca, Andres; Alper, Seth L; Gunel, Murat; Millan, Francisca; Lifton, Richard P; Torene, Rebecca I; Jin, Sheng Chih; Kahle, Kristopher T

De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

从头突变表明染色质修饰、转录调控和视黄酸信号传导与综合征性颅缝早闭症有关。

Timberlake, Andrew T; McGee, Stephen; Allington, Garrett; Kiziltug, Emre; Wolfe, Erin M; Stiegler, Amy L; Boggon, Titus J; Sanyoura, May; Morrow, Michelle; Wenger, Tara L; Fernandes, Erica M; Caluseriu, Oana; Persing, John A; Jin, Sheng Chih; Lifton, Richard P; Kahle, Kristopher T; Kruszka, Paul

Genetic background of Cambodian pneumococcal carriage isolates following pneumococcal conjugate vaccine 13

柬埔寨肺炎球菌结合疫苗 13 接种后肺炎球菌携带者分离株的遗传背景

Sophie Belman, Sona Soeng, Chansovannara Soputhy, Rebecca Gladstone, Paulina A Hawkins, Robert F Breiman, Lesley McGee, Stephen D Bentley, Stephanie W Lo, Paul Turner

Multiethnic Prediction of Nicotine Biomarkers and Association With Nicotine Dependence

多民族人群尼古丁生物标志物预测及其与尼古丁依赖的关联

Bergen, Andrew W; McMahan, Christopher S; McGee, Stephen; Ervin, Carolyn M; Tindle, Hilary A; Le Marchand, Loïc; Murphy, Sharon E; Stram, Daniel O; Patel, Yesha M; Park, Sungshim L; Baurley, James W