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

Widespread distribution of Alu/Alu-mediated genomic rearrangement predisposing to a broad range of Mendelian disease and cancer in human populations

Alu/Alu介导的基因组重排在人类群体中广泛分布,导致多种孟德尔遗传病和癌症的发生。

Duan, Ruizhi Vince; Du, Haowei; Pande, Shruti; Saad, Ahmed K; Atik, Meryem M; Jamsandekar, Minal; Coveler, Karen J; Dardas, Zain; Jhangiani, Shalini N; Posey, Jennifer E; Gibbs, Richard A; Lupski, James R

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach

先天性心脏侧向性缺陷的基因组罕见变异机制:双基因模型方法

Rai, Archana; Klonowski, Jonathan; Yuan, Bo; Coveler, Karen J; Dardas, Zain; Egab, Iman; Xu, Jiaoyang; Lupo, Philip J; Agopian, A J; Kostka, Dennis; Lo, Cecilia W; Yi, S Stephen; Gelb, Bruce D; Seidman, Christine E; Boerwinkle, Eric; Posey, Jennifer E; Gibbs, Richard A; Lupski, James R; Morris, Shaine A; Coban-Akdemir, Zeynep

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

UGGT1 双等位基因变异会导致先天性糖基化障碍

Dardas Zain, Harrold Laura, Calame Daniel G, Salter Claire G, Kikuma Takashi, Guay Kevin P, Ng Bobby G, Sano Kanae, Saad Ahmad K, Du Haowei, Sangermano Riccardo, Patankar Sohil G, Jhangiani Shalini N, Gürsoy Semra, Abdel-Hamid Mohamed S, Ahmed Mahmoud K H, Maroofian Reza, Kaiyrzhanov Rauan, Salayev Kamran, Jones Wendy D, Pérez Caballero Ana, McGavin Lucy, Spiller Michael, Durkie Miranda, Wood Nick, O'Grady Lauren, Goldenberg Paula, Neumeyer Ann M, Begtrup Amber, Abdel-Ghafar Sherif F, Zaki Maha S, Van Esch Hilde, Posey Jennifer E, Wenger Olivia K, Scott Ethan M, Bujakowska Kinga M, Gibbs Richard A, Pehlivan Davut, Marafi Dana, Leslie Joseph S, Ubeyratna Nishanka, Day Jacob, Owens Martina, Settle Jessica, Balkhy Soher, Tamim Abdullah, Alabdi Lama, Alkuraya Fowzan S, Takeda Yoichi, Freeze Hudson H, Hebert Daniel N, Lupski James R, Crosby Andrew H, Baple Emma L

Genomic Balancing Act: deciphering DNA rearrangements in the complex chromosomal aberration involving 5p15.2, 2q31.1, and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid M; El-Rashidy, Omnia F; Grochowski, Christopher M; Carvalho, Claudia M B; Jhangiani, Shalini N; Bi, Weimin; Du, Haowei; Gibbs, Richard A; Posey, Jennifer E; Calame, Daniel G; Zaki, Maha S; Lupski, James R

Pathogenic DVL frameshifting variants in Robinow syndrome disrupt WNT signaling and cellular dynamics

Robinow综合征中的致病性DVL移码变异会破坏WNT信号传导和细胞动力学。

Zhang, Chaofan; Roy, Rituparna Sinha; Lun, Ming Yin; Mazzeu, Juliana F; White, Janson; Charng, Wu-Lin; Peters, Nathaniel; Gustafson, Jonas A; Iyer, Harshini; Dardas, Zain; Lee, Hyun Kyoung; Sutton, V Reid; Lupski, James R; Carvalho, Claudia M B

Whole-Genome Sequencing Reveals Individual and Cohort Level Insights into Chromosome 9p Syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Tzovenos, Rodrigo Starosta; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

HMZDupFinder:一种用于从外显子组测序数据中检测基因内纯合重复的稳健计算方法

Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M; Jhangiani, Shalini N; Li, He; Muzny, Donna; Fatih, Jawid M; Yesil, Gozde; Elçioglu, Nursel H; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G; Carvalho, Claudia M B; Posey, Jennifer E; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

NODAL基因变异与一系列侧位缺陷相关,从简单的D型大动脉转位到异位症。

Dardas, Zain; Fatih, Jawid M; Jolly, Angad; Dawood, Moez; Du, Haowei; Grochowski, Christopher M; Jones, Edward G; Jhangiani, Shalini N; Wehrens, Xander H T; Liu, Pengfei; Bi, Weimin; Boerwinkle, Eric; Posey, Jennifer E; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Coban-Akdemir, Zeynep; Morris, Shaine A

Genomic Balancing Act: Deciphering DNA rearrangements in the Complex Chromosomal Aberration involving 5p15.2, 2q31.1 and 18q21.32

基因组平衡之道:解读涉及 5p15.2、2q31.1 和 18q21.32 的复杂染色体畸变中的 DNA 重排

Lupski, James; Dardas, Zain; Marafi, Dana; Duan, Ruizhi; Fatih, Jawid; El-Rashidy, Omnia; Grochowski, Christopher; Carvalho, Claudia; Jhangiani, Shalini; Bi, Weimin; Du, Haowei; Gibbs, Richard; Posey, Jennifer; Calame, Daniel; Zaki, Maha