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

Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics

综合征性听力损失及其非综合征性听力损失类似症状的临床和遗传异质性

Koparir, Asuman; Carbajal, Paulina Bahena; Zamini, Mina; Naghinejad, Maryam; Najarzadeh Torbati, Paria; Hofrichter, Michaela A H; Tovornik, Stefanie; Koparir, Erkan; Dragicevic Babic, Neda; Rad, Aboulfazl; Owrang, Daniel; Kalay, Irem; Chamanrou, Niloofar; Martínez Völter, Luis Nicolás; Christophersen, Nele; Baranzehi, Tayebeh; Rajati, Mohsen; Loum, Stephen; Kunstmann, Erdmute; Shadab, Madiha; Abbasi, Ansar Ahmed; Doosti, Mohammad; Alidadiani, Neda; Ghaderi, Shahrooz; Haack, Tobias B; Alavi, Shahryar; Doll, Julia; Kremer, Hannie; Kordi-Tamandani, Dor Mohammad; Murphy, David; Mohammad, Rahema; Hebestreit, Helge; Ghayoor Karimiani, Ehsan; Flandin, Sophie; Linares, Paola; Villalobos, Daniel; Houlden, Henry; Galehdari, Hamid; Shehata-Dieler, Wafaa; Maroofian, Reza; Haaf, Thomas; Vona, Barbara

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

Elucidating binding hot spots and structural stability in sirtuin family proteins for selective inhibitors: a computational approach

阐明sirtuin家族蛋白的结合热点和结构稳定性,以开发选择性抑制剂:一种计算方法

Rawlins, Lettie E; Maroofian, Reza; Cannon, Stuart J; Daana, Muhannad; Zamani, Mina; Ghani, Shamsul; Leslie, Joseph S; Ubeyratna, Nishanka; Khan, Nasar; Khan, Hamid; Scardamaglia, Annarita; Cloarec, Robin; Khan, Shujaat Ali; Umair, Muhammad; Sadeghian, Saeid; Galehdari, Hamid; Al-Maawali, Almundher; Al-Kindi, Adila; Azizimalamiri, Reza; Shariati, Gholamreza; Ahmad, Faraz; Al-Futaisi, Amna; Rodriguez Cruz, Pedro M; Salazar-Villacorta, Ainara; Ndiaye, Moustapha; Diop, Amadou G; Sedaghat, Alireza; Saberi, Alihossein; Hamid, Mohammad; Zaki, Maha S; Vona, Barbara; Owrang, Daniel; Alhashem, Abdullah M; Obeid, Makram; Khan, Amjad; Beydoun, Ahmad; Najjar, Marwan; Tajsharghi, Homa; Zifarelli, Giovanni; Bauer, Peter; Hakami, Wejdan S; Al Hashem, Amal M; Boustany, Rose-Mary N; Burglen, Lydie; Alavi, Shahryar; Gunning, Adam C; Owens, Martina; Karimiani, Ehsan G; Gleeson, Joseph G; Milh, Mathieu; Salah, Somaya; Khan, Jahangir; Haucke, Volker; Wright, Caroline F; McGavin, Lucy; Elpeleg, Orly; Shabbir, Muhammad I; Houlden, Henry; Ebner, Michael; Baple, Emma L; Crosby, Andrew H; Dhar, Atika; Kitani, Atsushi; Strober, Warren; Bohall, Bradley S; Gorbis, Alexander; Gorbis, Eda; Chopra, Pradeep; Kandeel, Samah; El-Beltagi, Eman M; Wang, Wei-ren; Yan, Lin; Zhao, Chuan-ying; He, Cong-cong; Gao, Xing-Hua; Li, Linhui; Zhang, Shuangxi; Yue, Jianghuan; Wang, Xiuli; Li, Cuiting; Wang, Lulu; Li, Xiaoling; Lin, Aifen; Yan, Wei-Hua; Ouyang, Chaowei; Zhang, Dandan; Lei, Changbin; Morey, Manoviraj Gajendra; Illanad, Gouri H; Rasool, Mahaboobkhan; Chooklin, Serge; Chuklin, Serhii; An, Lina; Han, Yidi; Sun, Xiaohui; Wang, Lili; Guo, Lei; Long, Yu; Li, Dan; Jian, Xuemin; Yang, Zhi; Leng, Ting; Wang, Xilian; Zhang, Wanxue; Ge, Xinyun; Li, Nan; Yin, Yuan; Li, Xiaoan; Wang, Chunying; Zhang, Meihua; Bode, Erik L; Krasniqi, Samanda; Rosenthal, Annika; Friedel, Eva; Schlagenhauf, Florian; Sebold, Miriam; Wei, Hongxia; Li, Zhe; Liu, Zi'ang; Wu, Baofeng; Li, Ru; Xu, Ming; Yang, Xifeng; Yin, Jianhong; Zhang, Yi; Liu, Yunfeng; Kitase, Yukiko; Ji, Jia; Bonewald, Lynda F; Prideaux, Matthew; Roh, Hyun Cheol; Peng, Gang; Lin, Ying; Wen, Deng-tai; Huang, Jianhuang; Wang, Qixiu; Chen, Jianning; Parri, Muralidhar; Singh, Kiratmeet; Xing, Yun; Liu, Jiaxin; Wu, Linrui; Zhang, Ke; Yang, Shengbo; Srisuwan, Tanida; Kornsuthisopon, Chatvadee; Nowwarote, Nunthawan; Zhu, Xiaofei; Dissanayaka, Waruna Lakmal; Osathanon, Thanaphum; Sun, Jingjing; Zhang, Kai; Li, Panpan; Xu, Wenyue; Ding, Kaimo; Zhang, Bidan; Zhao, Bei; Zhang, Danwei; Sirajo, Mujittapha Umar; Obie, Rukevwe; Mukhtar, Abubakar I; Abdullahi, Nasiru M; Taniyohwo, Enaohwo M; Oyem, John C; Badamasi, Ibrahim M; Deb, Vishal Kumar; Mukherjee, Abhishek; Pathak, Surajit; Paul, Sujay; Duttaroy, Asim K; Adhikari, Suman; Gao, Huiquan; Ma, Tao; Jiang, Qinqin; Gao, Lanfang; Li, Jinfang; Wang, Shubo; Liu, Ziyong; Zhang, Zhixin; Wu, Gang; He, Wenxin; Zhou, Fuxin; Xu, XiuRong; Lai, JiuXin; Cheng, Shiming; Shuai, Qi; Tian, Jun; Yang, Wenlong; Huang, Santing; Tutu, Paul; Altamura, Gennaro; Daraban Bocaneti, Florentina; Hritcu, Ozana Maria; Pasca, Aurelian-Sorin; Dascalu, Mihaela Anca; Horodincu, Loredana; Tanase, Oana Irina; Mares, Mihai; Borzacchiello, Giuseppe; Yang, Guanhao; Huang, Xuan; Qiu, Duorun; Wang, Anzhao; Liu, Denghui; Liu, Zhongtang; Nuccio, Daniel A; Grippo, Angela; Singh, Pallavi; Gao, Xiaomeng; Wu, Yihan; Zheng, Ronglian; Kou, Yining; Xing, Huili; Li, Kun; Zhang, Meng; Priyadharshini, Eswaran; Sandhya, Maddi; Anand, Theerthagiri; Angamuthu, Mahalingam; Murugan, Marimuthu; Tharmalingam, Nagendran; Senthilraja, Govindasamy; Meng, Yonghui; He, Jinjun; Yan, An; Che, Bangwei; Tang, Kaifa; Zhang, Tao; Vukić, Dragana; Du, Qiupei; Cherian, Anna; Amoruso, Damiano; Brožinová, Květoslava; Wacheul, Ludivine; Lacovich, Valentina; Zorbas, Christiane; Yadav, Leena; Sedmík, Jiří; Keskitalo, Salla; Hajji, Khadija; Stejskal, Stanislav; Varjosalo, Markku; Lafontaine, Denis L J; Keegan, Liam P; O’Connell, Mary A; Allichon, Marie-Charlotte; Espinosa, Jeanne; Cole, Rebecca H; Ko, Mei-Chuan; Vanhoutte, Peter; Joffe, Max E; Abd El-kader, Marwa; Farrag, Eman A E; El-Gamal, Randa; El Nashar, Eman Mohamed; Alshehri, Areej M; Aldahhan, Rashid A; Al-khater, Khulood M; El-Desouky, Sara; El-Sherbeni, M W; Ebrahim, Neven A; Truitt, Kate; Walsh, McKenna E; Dalton, Michelle R; Cai, Jiali; Zhang, Yaojian; Zhang, Tian; Wu, Mengyi; Wang, Dijun; Yin, Chunyan; Nie, Xueke; Chen, Lan; Sun, Zhihu; Liu, Chanming; Yan, Xiaojing; Kong, Weihao; Wang, Jiawen; Zhang, Kangjie; Wang, Xingyu; Zhang, Jianlin; Sharma, Deepak; Muniyan, Rajiniraja

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

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

FRMPD4是导致智力障碍和癫痫的致病基因,也与X连锁非综合征性听力损失有关。

Liedtke, Daniel; Rak, Kristen; Schrode, Katrina M; Hehlert, Philip; Chamanrou, Niloofar; Bengl, Daniel; Katana, Radoslaw; Heydaran, Soganad; Doll, Julia; Han, Mei; Nanda, Indrajit; Senthilan, Pingkalai R; Jürgens, Lukas; Bieniussa, Linda; Voelker, Johannes; Neuner, Cordula; Hofrichter, Michaela Ah; Schröder, Jörg; Schellens, Renske T W; de Vrieze, Erik; van Wijk, Erwin; Zechner, Ulrich; Herms, Stefan; Hoffmann, Per; Müller, Tobias; Dittrich, Marcus; Bartsch, Oliver; Krawitz, Peter M; Klopocki, Eva; Shehata-Dieler, Wafaa; Maroofian, Reza; Wang, Tao; Worley, Paul F; Göpfert, Martin C; Galehdari, Hamid; Lauer, Amanda M; Haaf, Thomas; Vona, Barbara

Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry

CABP2相关性听力损失(DFNB93)是基因治疗靶点吗?临床前进展和患者登记

Vona, Barbara; Wollnik, Bernd; Strenzke, Nicola; Pangršič, Tina; Moser, Tobias

A clinical and genotype-phenotype analysis of MACF1 variants

MACF1变异体的临床和基因型-表型分析

Dekker, Jordy; Schot, Rachel; Aldinger, Kimberly A; Everman, David B; Washington, Camerun; Jones, Julie R; Sullivan, Jennifer A; Spillmann, Rebecca C; Shashi, Vandana; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Mosca-Boidron, Anne-Laure; Perrin, Laurence; Auvin, Stéphane; Zaki, Maha S; Gleeson, Joseph G; Meave, Naomi; Wallace, Cassidy; Nambot, Sophie; Delanne, Julian; Ruggiero, Sarah M; Helbig, Ingo; Fitzgerald, Mark P; Leventer, Richard J; Grange, Dorothy K; Argilli, Emanuela; Sherr, Elliott H; Prakash, Supraja; Neilson, Derek E; Nicita, Francesco; Sferra, Antonella; Bertini, Enrico S; Aiello, Chiara; Brockmann, Knut; Kuranov, Alexander B; Kaulfuss, Silke; Basit, Sulman; Alluqmani, Majed; Almatrafi, Ahmad; Friedman, Jan M; Guimond, Colleen; Mohammed, Faruq; Sharma, Pooja; Goel, Divya; Wirth, Thomas; Anheim, Mathieu; Bahena, Paulina; Koparir, Asuman; Kolokotronis, Konstantinos; Vona, Barbara; Haaf, Thomas; Kunstmann, Erdmute; Maroofian, Reza; Sczakiel, Henrike L; Boschann, Felix; Misra-Isrie, Mala; Louie, Raymond J; Stolerman, Elliot S; Sanchez-Lara, Pedro A; Mergler, Sandra; Oegema, Renske; Zarate, Yuri A; Kariminejad, Ariana; Tajsharghi, Homa; Zeidler, Shimriet; Kievit, Anneke J A; Bouman, Arjan; Cappuccio, Gerarda; Brunetti-Pierri, Nicola; Stuurman, Kyra E; Swols, Dayna Morel; Tekin, Mustafa; Upadia, Jariya; Martin, Donna M; Craven, Daniel; Hiatt, Susan M; van de Pol, Laura A; D'Arco, Felice; Margot, Henri; Wilke, Martina; Yousefi, Soheil; Barakat, Tahsin Stefan; van Veghel-Plandsoen, Monique M; Aronica, Eleonora; Anink, Jasper; Rogers, Stephen L; Slep, Kevin C; Doherty, Dan; Dobyns, William B; Mancini, Grazia M S

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

ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time

ClinGen对听力损失相关基因的重新整理表明,随着时间的推移,基因-疾病有效性发生了显著变化。

Tshering, Kezang C; DiStefano, Marina T; Oza, Andrea M; Ajuyah, Pamela; Webb, Ryan; Edoh, Enyonam; Broeren, Ellie; Ratliff, Julie; Gitau, Vanessa; Paris, Kelley; Aburyyan, Amal; Alexander, John; Albano, Victoria; Bai, Donglin; Booth, Kevin T A; Buonfiglio, Paula I; Charfeddine, Cherine; Dalamón, Viviana; Castillo, Ignacio Del; Moreno-Pelayo, Miguel Angel; Duzkale, Hatice; Dorshorst, Ben; Faridi, Rabia; Kenna, Margaret; Lewis, Morag A; Luo, Minjie; Lu, Yu; Mkaouar, Rahma; Matsunaga, Tatsuo; Nara, Kiyomitsu; Pandya, Arti; Redfield, Shelby; Roux, Isabelle; Schimmenti, Lisa A; Schrauwen, Isabelle; Shaaban, Sherin; Shen, Jun; Vona, Barbara; Smith, Richard J; Rehm, Heidi L; Azaiez, Hela; Abou Tayoun, Ahmad N; Amr, Sami S

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights

伴有听力损失的神经遗传性疾病:机制、分类和新见解

Owrang, Daniel; Vona, Barbara