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

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders

神经元黏附分子星形胶质细胞1基因(ASTN1)的双等位基因变异会导致多种神经发育障碍

Levine, Jesse M; Calame, Daniel G; Sangermano, Riccardo; Du, Haowei; Saad, Ahmed; Lisfeld, Jasmin; Bierhals, Tatjana; Denecke, Jonas; Uctepe, Eyyup; Celik, Merve Yoldas; Yesilyurt, Ahmet; Yildiz Er, Hilal; Yilmaz Gulec, Elif; Mushiba, Aziza; Almontashiri, Naif; Gawlinski, Pawel; Wiszniewski, Wojciech; Karaca, Ender; Alabdi, Lama; Pehlivan, Davut; Marafi, Dana; Zaki, Maha S; Alkuraya, Fowzan S; Gleeson, Joseph G; Jhangiani, Shalini N; Gibbs, Richard A; Posey, Jennifer E; Bujakowska, Kinga M; Lupski, James R

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian families

一个集成的平台可以同时检测结构变异和单核苷酸变异,从而提高拷贝数检测的准确性,并揭示未确诊孟德尔遗传病家族中的致病等位基因。

Du, Haowei; Lun, Ming Yin; Gagarina, Lidiia; Bengtsson, Jesse D; Grochowski, Christopher M; Mehaffey, Michele G; Hwang, James Paul; Jhangiani, Shalini N; Bhamidipati, Sravya V; Muzny, Donna M; Poli, M Cecilia; Ochoa, Sebastian; Chinn, Ivan K; Lindstrand, Anna; Posey, Jennifer E; Gibbs, Richard A; Liu, Pengfei; Lupski, James R; Carvalho, Claudia M B

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

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

开发并广泛测序经广泛认可的“瓶中基因组”匹配的肿瘤-正常组织对

Jennifer H McDaniel ,Vaidehi Patel ,Nathan D Olson ,Hua-Jun He ,Zhiyong He ,Kenneth D Cole ,Alexander A Gooden ,Anthony Schmitt ,Kristin Sikkink ,Fritz J Sedlazeck ,Harsha Doddapaneni ,Shalini N Jhangiani ,Donna M Muzny ,Marie-Claude Gingras ,Heer Mehta ,Sairam Behera ,Luis F Paulin ,Alex R Hastie ,Hung-Chun Yu ,Victor Weigman ,Alison Rojas ,Katie Kennedy ,Jamie Remington ,Isai Salas-González ,Mitch Sudkamp ,Kelly Wiseman ,Bryan R Lajoie ,Shawn Levy ,Miten Jain ,Stuart Akeson ,Giuseppe Narzisi ,Zoe Steinsnyder ,Catherine Reeves ,Jennifer Shelton ,Sarah B Kingan ,Christine Lambert ,Primo Baybayan ,Aaron M Wenger ,Ian J McLaughlin ,Aaron Adamson ,Christopher Kingsley ,Melanie Wescott ,Young Kim ,Benedict Paten ,Jimin Park ,Ivo Violich ,Karen H Miga ,Joshua Gardner ,Brandy McNulty ,Gail L Rosen ,Rajiv McCoy ,Francesco Brundu ,Erfan Sayyari ,Konrad Scheffler ,Sean Truong ,Severine Catreux ,Lesley Chapman Hannah ,Doron Lipson ,Hila Benjamin ,Nika Iremadze ,Ilya Soifer ,Gat Krieger ,Stephen Eacker ,Mary Wood ,Erin Cross ,Greg Husar ,Stephen Gross ,Michael Vernich ,Mikhail Kolmogorov ,Tanveer Ahmad ,Ayse G Keskus ,Asher Bryant ,Francoise Thibaud-Nissen ,Jonathan Trow ,Jacqueline Proszynski ,Jeremy Wain Hirschberg ,Krista Ryon ,Christopher E Mason ,Mital S Bhakta ,J Zachary Sanborn ,Elizabeth M Munding ,Justin Wagner ,Chunlin Xiao # ,Andrew S Liss # ,Justin M Zook #

Recent developments in cystic fibrosis drug discovery: where are we today?

囊性纤维化药物研发的最新进展:我们目前处于什么阶段?

Lopes-Pacheco, Miquéias; Winters, Ashlyn G; Jackson, JaNise J; Olson, John A 3rd; Kim, Minsoo; Ledwitch, Kaitlyn V; Tedman, Austin; Jhangiani, Ashish R; Schlebach, Jonathan P; Meiler, Jens; Plate, Lars; Oliver, Kathryn E

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

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E