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

SnakeAltPromoter Facilitates Differential Alternative Promoter Analysis

SnakeAltPromoter 促进差异性替代启动子分析

Tan, Jiang; Wu, Yuqing; Barve, Ruteja; Lalmansingh, Jared; Li, Fuhai; Payne, Philip; Kong, Nahyun; Jin, Sheng Chih; Shan, Yuqi; Zhou, Ruiwen; Ge, Xinzhou; Li, Jingyi Jessica; Head, Richard; Sun, Yidan

Leveraging Human Pangenome for Improved Somatic Variant Detection

利用人类泛基因组改进体细胞变异检测

Fu, Qichen; Xin, Zilan; Miao, Benpeng; Zhang, Wenjin; Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Albracht, Derek; Belter, Edward A; Garza, John E; Tomlinson, Chad; Mehinovic, Elvisa; Shen, Jiawei; Zhuo, Xiaoyu; Dong, Shihua; Johnson, Benjamin K; Majewski, Mary F; Palmer, Theron; Jang, H Josh; Cheng, Yuchen; Li, Zefan; Lawson, Heather A; Lindsay, Tina; Li, Daofeng; Fulton, Robert; Shen, Hui; Jin, Sheng Chih; Macias-Velasco, Juan F; Wang, Ting

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

Unleashing the Power of Multiomics: Unraveling the Molecular Landscape of Peripheral Neuropathy

释放多组学的力量:揭示周围神经病变的分子图谱

Choi, Julie; Tang, Zitian; Dong, Wendy; Ulibarri, Jenna; Mehinovic, Elvisa; Thomas, Simone; Höke, Ahmet; Jin, Sheng Chih

Heterozygous and Homozygous RFC1 AAGGG Repeat Expansions are Common in Idiopathic Peripheral Neuropathy

杂合子和纯合子 RFC1 AAGGG 重复序列扩增在特发性周围神经病中很常见

Tang, Zitian; Ovunc, Sinem S; Mehinovic, Elle; Thomas, Simone; Ulibarri, Jenna; Li, Zefan; Baldridge, Dustin; Cruchaga, Carlos; Johnson, Matt; Milbrandt, Jeffrey; Callaghan, Brian; Höke, Ahmet; Todd, Peter K; Jin, Sheng Chih

A Pangenomic Method for Establishing a Somatic Variant Detection Resource in HapMap Mixtures

一种用于在HapMap混合物中建立体细胞变异检测资源的泛基因组方法

Kong, Nahyun; Tang, Zitian; Ruttenberg, Andrew; Macias-Velasco, Juan F; Li, Zefan; Zhang, Wenjin; Miao, Benpeng; Xin, Zilan; Fu, Qichen; Park, Haeorum; Zhuo, Xiaoyu; Mehinovic, Elvisa; Belter, Edward; Tomlinson, Chad; Garza, John E; Dong, Shihua; Casey, Emma; Johnson, Ben; Majewski, Mary F; Palmer, Theron; Cheng, Yuchen; Lindsay, Tina; Schedl, Tim; Li, Daofeng; Shen, Hui; Fulton, Robert; Wang, Ting; Jin, Sheng Chih

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy

近亲结婚家族中脑瘫患者的隐性基因组和表型变异

Bisarad, Pritha; Wang, Yung-Chun; Skidmore, Peter T; Galaz-Montoya, Carolina I; Lewis, Sara A; Alhaddad, Bader; Kong, Nahyun; Julian, Dominic; Magee, Helen; Kruer, Tyler N; Xie, Yuhan; Zheng, Wangjie; Li, Boyang; Rajabpour, Fatemeh V; Liu, James; Revanur, Anjali; Bakur, Khadijah; Firouzabadi, Saghar Ghasemi; Sharbatkhori, Sarina; Tafakhori, Abbas; Taghiabadi, Ehsan; Nezaminargabad, Ermia; Vosoogh, Shohreh; Jamshidi, Javad; Arefnia, Serajaddin; Hosseini, Seyed Ahmad; Khajehmirzaei, Alireza; Jamali, Faezeh; Ahmadifard, Azadeh; Khodadadi, Hamidreza; Daneshmand, Parvaneh; Bohlega, Saeed; Maddirevula, Sateesh; Nadeef, Seba Saleh; Hashem, Mais O; Salih, Mustafa A; Mohmed, Inaam N; Sticht, Heinrich; Morias, Sara Peres; Damásio, Joana; Santos, Mariana; Loureiro, José Leal; Rodrigues, Rita; Stevanin, Giovanni; Benkirane, Mehdi; Dauriat, Benjamin; Head, Nicholas; Baptista, Júlia; Shahhosseini, Saeid; Mohammad, Farhan; Zhao, Hongyu; Padilla-Lopez, Sergio; Alkuraya, Fowzan; Bakhtiari, Somayeh; Kruer, Michael C; Jin, Sheng Chih; Darvish, Hossein