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

Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants

通过对新型 COL4A6 变异体的结构和临床研究,揭示具有复杂表型家族的双重分子诊断

Owrang, Daniel; Rad, Aboulfazl; Cretu, Constantin; Lin, Sheng-Jia; Mustafa, Hafiz Muhammad; Huang, Kevin; Waheed, Nadia; Hussain, Maqbool; Riaz, Sadia; Preobraschenski, Julia; Varshney, Gaurav K; Oprea, Gabriela; Vona, Barbara

Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window

EPS8L2 (DFNB106) 相关性听力损失的分子和临床方面的研究拓展,凸显了潜在的治疗窗口

Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A H; Maroofian, Reza; Varshney, Gaurav K; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara

Translating multi-omics into healthcare: requisites for scalable and equitable implementation

将多组学转化为医疗保健:可扩展和公平实施的必要条件

Tumiene, Birute; Adams, David R; Allaway, Robert; Barrero, Maria J; Chan, Chun-Hung; Faundes, Víctor; Fear, Vanessa S; Glezer, Polina; Fuchs, Claudia; Groza, Tudor; Houwink, Elisa J F; Jamuar, Saumya Shekhar; Letinturier, Mary Catherine V; Lomash, Richa Madan; Puri, Ratna Dua; Reichardt, Juergen K V; Mehrian-Shai, Ruty; van der Westhuizen, Francois H; Varshney, Gaurav K; Yamamoto, Shinya; Baynam, Gareth

Rationally Designed TadA-Derived Cytosine Editors Enable Context-Independent Zebrafish Genome Editing

合理设计的TadA衍生胞嘧啶编辑器实现了与上下文无关的斑马鱼基因组编辑

Qin, Wei; Lin, Sheng-Jia; Zhang, Yu; Huang, Kevin; Petree, Cassidy; Boyd, Kevin; Varshney, Pratishtha; Varshney, Gaurav K

Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function.

优化 gRNA 选择,以进行高渗透性 F0 CRISPR 筛选,从而探究疾病基因功能

Lin Sheng-Jia, Huang Kevin, Petree Cassidy, Qin Wei, Varshney Pratishtha, Varshney Gaurav K

CRISPR-based functional genomics tools in vertebrate models

基于 CRISPR 的功能基因组学工具在脊椎动物模型中的应用

Varshney, Gaurav K; Burgess, Shawn M

Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder

TRMT1基因的双等位致病变异会破坏tRNA修饰并诱发神经发育障碍。

Efthymiou, Stephanie; Leo, Cailyn P; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; Derrick, Anna V; Rees, Mark I; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans; Frykholm, Carina; Bozdoğan, Sevcan Tuğ; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tümer, Zeynep; Hjortshøj, Tina D; Rønde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J; Zaki, Maha S; Gleeson, Joseph G; Calame, Daniel G; Pehlivan, Davut; Yilmaz, Halil I; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoğlu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K; Glazunova, Olga O; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E; Varshney, Gaurav K; Houlden, Henry; Fu, Dragony

Cytosine base editors with increased PAM and deaminase motif flexibility for gene editing in zebrafish

用于斑马鱼基因编辑的胞嘧啶碱基编辑器,具有更高的PAM和脱氨酶基序灵活性

Zhang, Yu; Liu, Yang; Qin, Wei; Zheng, Shaohui; Xiao, Jiawang; Xia, Xinxin; Yuan, Xuanyao; Zeng, Jingjing; Shi, Yu; Zhang, Yan; Ma, Hui; Varshney, Gaurav K; Fei, Ji-Feng; Liu, Yanmei

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders

ACBD6双等位基因变异会导致一种神经发育综合征,伴有进行性且复杂的运动障碍。

Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; Huang, Kevin; Lau, Tracy; Petree, Cassidy; Efthymiou, Stephanie; Karimiani, Ehsan Ghayoor; Hempel, Maja; Normand, Elizabeth A; Rudnik-Schöneborn, Sabine; Schatz, Ulrich A; Baggelaar, Marc P; Ilyas, Muhammad; Sultan, Tipu; Alvi, Javeria Raza; Ganieva, Manizha; Fowler, Ben; Aanicai, Ruxandra; Tayfun, Gulsen Akay; Al Saman, Abdulaziz; Alswaid, Abdulrahman; Amiri, Nafise; Asilova, Nilufar; Shotelersuk, Vorasuk; Yeetong, Patra; Azam, Matloob; Babaei, Meisam; Monajemi, Gholamreza Bahrami; Mohammadi, Pouria; Samie, Saeed; Banu, Selina Husna; Pinto Basto, Jorge; Kortüm, Fanny; Bauer, Mislen; Bauer, Peter; Beetz, Christian; Garshasbi, Masoud; Issa, Awatif Hameed; Eyaid, Wafaa; Ahmed, Hind; Hashemi, Narges; Hassanpour, Kazem; Herman, Isabella; Ibrohimov, Sherozjon; Abdul-Majeed, Ban A; Imdad, Maria; Isrofilov, Maksudjon; Kaiyal, Qassem; Khan, Suliman; Kirmse, Brian; Koster, Janet; Lourenço, Charles Marques; Mitani, Tadahiro; Moldovan, Oana; Murphy, David; Najafi, Maryam; Pehlivan, Davut; Rocha, Maria Eugenia; Salpietro, Vincenzo; Schmidts, Miriam; Shalata, Adel; Mahroum, Mohammad; Talbeya, Jawabreh Kassem; Taylor, Robert W; Vazquez, Dayana; Vetro, Annalisa; Waterham, Hans R; Zaman, Mashaya; Schrader, Tina A; Chung, Wendy K; Guerrini, Renzo; Lupski, James R; Gleeson, Joseph; Suri, Mohnish; Jamshidi, Yalda; Bhatia, Kailash P; Vona, Barbara; Schrader, Michael; Severino, Mariasavina; Guille, Matthew; Tate, Edward W; Varshney, Gaurav K; Houlden, Henry; Maroofian, Reza

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

WDR83OS基因的纯合变异会导致伴有高胆汁酸血症的神经发育障碍。

Barish, Scott; Lin, Sheng-Jia; Maroofian, Reza; Gezdirici, Alper; Alhebby, Hamoud; Trimouille, Aurélien; Biderman Waberski, Marta; Mitani, Tadahiro; Huber, Ilka; Tveten, Kristian; Holla, Øystein L; Busk, Øyvind L; Houlden, Henry; Ghayoor Karimiani, Ehsan; Beiraghi Toosi, Mehran; Shervin Badv, Reza; Najarzadeh Torbati, Paria; Eghbal, Fatemeh; Akhondian, Javad; Al Safar, Ayat; Alswaid, Abdulrahman; Zifarelli, Giovanni; Bauer, Peter; Marafi, Dana; Fatih, Jawid M; Huang, Kevin; Petree, Cassidy; Calame, Daniel G; von der Lippe, Charlotte; Alkuraya, Fowzan S; Wali, Sami; Lupski, James R; Varshney, Gaurav K; Posey, Jennifer E; Pehlivan, Davut