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

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

Recessive genetic contribution to congenital heart disease in 5,424 probands

5424例先证者中隐性遗传因素对先天性心脏病的影响

Dong, Weilai; Jin, Sheng Chih; Sierant, Michael C; Lu, Ziyu; Li, Boyang; Lu, Qiongshi; Morton, Sarah U; Zhang, Junhui; López-Giráldez, Francesc; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; Cnota, James F; Wagner, Michael; Srivastava, Deepak; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Seidman, Jonathan; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Lifton, Richard P; Brueckner, Martina

Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes

对 11,555 名先证者的基因组分析鉴定出 60 个显性先天性心脏病基因

Sierant, Michael C; Jin, Sheng Chih; Bilguvar, Kaya; Morton, Sarah U; Dong, Weilai; Jiang, Wei; Lu, Ziyu; Li, Boyang; López-Giráldez, Francesc; Tikhonova, Irina; Zeng, Xue; Lu, Qiongshi; Choi, Jungmin; Zhang, Junhui; Nelson-Williams, Carol; Knight, James R; Zhao, Hongyu; Cao, Junyue; Mane, Shrikant; Sedore, Stanley C; Gruber, Peter J; Lek, Monkol; Goldmuntz, Elizabeth; Deanfield, John; Giardini, Alessandro; Mital, Seema; Russell, Mark; Gaynor, J William; King, Eileen; Wagner, Michael; Srivastava, Deepak; Shen, Yufeng; Bernstein, Daniel; Porter, George A Jr; Newburger, Jane W; Seidman, Jonathan G; Roberts, Amy E; Yandell, Mark; Yost, H Joseph; Tristani-Firouzi, Martin; Kim, Richard; Chung, Wendy K; Gelb, Bruce D; Seidman, Christine E; Brueckner, Martina; Lifton, Richard P

Clinical phenotypes among patients with familial forms of Chiari malformation type 1

家族性小脑扁桃体下疝畸形1型患者的临床表型

Mekbib, Kedous Y; Muñoz, William; Allington, Garrett; Zhao, Shujuan; Mehta, Neel H; Fortes, Carla; Shohfi, John P; Fan, Baojian; Nelson-Williams, Carol; DeSpenza, Tyrone; Butler, William E; Alper, Seth L; Jackson, Eric M; Kahle, Kristopher T

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 基因突变会导致以脑室扩大和脑积水为特征的神经发育综合征

Duy Phan Q, Jux Bettina, Zhao Shujuan, Mekbib Kedous Y, Dennis Evan, Dong Weilai, Nelson-Williams Carol, Mehta Neel H, Shohfi John P, Juusola Jane, Allington Garrett, Smith Hannah, Marlin Sandrine, Belhous Kahina, Monteleone Berrin, Schaefer G Bradley, Pisarska Margareta D, Vásquez Jaime, Estrada-Veras Juvianee I, Keren Boris, Mignot Cyril, Flore Leigh A, Palafoll Irene V, Alper Seth L, Lifton Richard P, Haider Shozeb, Moreno-De-Luca Andres, Jin Sheng Chih, Kolanus Waldemar, 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

Pathogenic variants in autism gene KATNAL2 cause hydrocephalus and disrupt neuronal connectivity by impairing ciliary microtubule dynamics

自闭症基因KATNAL2的致病变异会导致脑积水,并通过损害纤毛微管动力学来破坏神经元连接。

DeSpenza, Tyrone Jr; Singh, Amrita; Allington, Garrett; Zhao, Shujuan; Lee, Junghoon; Kiziltug, Emre; Prina, Mackenzi L; Desmet, Nicole; Dang, Huy Q; Fields, Jennifer; Nelson-Williams, Carol; Zhang, Junhui; Mekbib, Kedous Y; Dennis, Evan; Mehta, Neel H; Duy, Phan Q; Shimelis, Hermela; Walsh, Lauren K; Marlier, Arnaud; Deniz, Engin; Lake, Evelyn M R; Constable, R Todd; Hoffman, Ellen J; Lifton, Richard P; Gulledge, Allan; Fiering, Steven; Moreno-De-Luca, Andres; Haider, Shozeb; Alper, Seth L; Jin, Sheng Chih; Kahle, Kristopher T; Luikart, Bryan W

Bridging the mismatch: observing the introduction of new anesthesia technology for a low-resource environment

弥合资源不匹配:观察低资源环境下新型麻醉技术的引入

Sampson, John Burthorne; Koka, Rahul; Tomobi, Oluwakemi; Chima, Adaora; Jackson, Eric Vincent; Rosen, Michael; Koroma, Michael; Nelson-Williams, Howard; David, Elizabeth; Lee, Benjamin

Neighborhood Poverty and Access to Total Knee Arthroplasty in Maryland

马里兰州社区贫困与全膝关节置换术的可及性

Lemos, Jeconias Neiva; Lemos, Lavínia Dantas Cardoso Neiva; Solla, Davi Jorge Fontoura; Lemos, Danilo Dantas Cardoso Neiva; Módolo, Norma Sueli Pinheiro; Lasisi, Oluwatobi; Akinyemi, Oluwasegun; Odusanya, Eunice; Nelson-Williams, Howard; Amadife, N Stacy; Oduwole, Modupe; Otolorin, Abiodun; Ekezie, Chinemere; Olaniran, Oyeyemi; Nzeako, Chidiebube; Ojinnaka, Ugochi