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Barbara Vona

university medical center göttingen

28H指数
145论文数
2.2K被引数
收录论文 68
发表时间
TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non-Syndromic Hearing LossTECTB变异揭示显性非综合征性听力损失中盖膜易损性
err2026-09-07
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errOAAI
errEvan B. Hale; Barbara Vona; Richard J. Goodyear; Richard T. Osgood; Jun Shen; Sami S. Amr; Karen Mojica; Michaela A. H. Hofrichter; Jörg Schröder; Sophie Flandin; Paul Gratias; Ricardo Vera-Monroy; Katherine Callahan; Kerry L. Gudlewski; Rolen Quadros; Masato Ohtsuka; JoAnn McGee; Edward J. Walsh; Cynthia C. Morton; Thomas Haaf; Channabasavaiah Gurumurthy; James E. Saunders; Guy P. Richardson; Artur A. Indzhykulian
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PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discoveryPALM3与听力损失:一种可能干扰新基因发现的联合诊断
err2026-07-29
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errOAAI
errParia Najarzadeh Torbati; Lukas Hallbrucker; Michaela A. H. Hofrichter; Daniel Owrang; Jonas Setzke; Manfred W. Kilimann; Anahid Hemmatpour; Mohsen Rajati; Ehsan Ghayoor Karimiani; Thomas Haaf; Christian Vogl; Barbara Vona
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A comparative survey of functional evidence use in hearing and vision loss genetics听力和视力损失遗传学中功能证据使用的比较综述
err2026-05-30
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errOAAI
errR. Arda Inan; Marina T. DiStefano; Sami S. Amr; Tim Beißbarth; Lea M. Starita; Andrew B. Stergachis; Ahmad Abou Tayoun; Robert B. Hufnagel; Barbara Vona
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Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱
err2026-04-15
err0
errOAAI
errFrancesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden
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Clinical and genetic heterogeneity of syndromic hearing loss and its non-syndromic hearing loss mimics综合征性听力损失的临床和遗传异质性及其非综合征性听力损失的类似物
err2026-04-07
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errOAAI
errAsuman Koparir; Paulina Bahena Carbajal; Mina Zamini; Maryam Naghinejad; Paria Najarzadeh Torbati; Michaela A. H. Hofrichter; Stefanie Tovornik; Erkan Koparir; Neda Dragicevic Babic; Aboulfazl Rad; Daniel Owrang; Irem Kalay; Niloofar Chamanrou; Luis Nicolás Martínez Völter; Nele Christophersen; Tayebeh Baranzehi; Mohsen Rajati; Stephen Loum; Erdmute Kunstmann; Madiha Shadab; Ansar Ahmed Abbasi; Mohammad Doosti; Neda Alidadiani; Shahrooz Ghaderi; Tobias B. Haack; Shahryar Alavi; Julia Doll; Hannie Kremer; Dor Mohammad Kordi-Tamandani; David Murphy; Rahema Mohammad; Helge Hebestreit; Ehsan Ghayoor Karimiani; Sophie Flandin; Paola Linares; Daniel Villalobos; Henry Houlden; Hamid Galehdari; Wafaa Shehata-Dieler; Reza Maroofian; Thomas Haaf; Barbara Vona
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Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowEPS8L2 (DFNB106)相关听力损失的分子和临床方面扩展强调了潜在的治疗窗口
err2026-01-10
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errOAAI
errDaniel Owrang; Aboulfazl Rad; Masoome Alerasool; Susanne M. Kolb; Sheng-Jia Lin; Julia Doll; Neda Alidadiani; Shahrooz Ghaderi; Michaela A. H. Hofrichter; Reza Maroofian; Gaurav K. Varshney; Majid Mojarrad; Oliver Bartsch; Thomas Haaf; Barbara Vona
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International expert consensus on gene therapy for hereditary hearing loss: Based on clinical trials遗传性听力损失基因治疗国际专家共识:基于临床试验
errMed
IF11.8
err2025-10-23
err0
errOAAI
errXintai Fan; Ziwen Gao; Jiake Zhong; Yuxin Chen; Xiaoyun Chen; Lukas D. Landegger; Tobias Moser; Fan-Gang Zeng; Yu Sun; Xin Jin; Robert Nash; Wade W. Chien; Dan Jiang; John H. Greinwald; Manohar Bance; Manuel Manrique Rodríguez; Sang-Yeon Lee; Guodong Feng; Haidi Yang; Chen-Chi Wu; Lei Xu; Wei Yuan; Yong Feng; Yu Zhao; Barbara Vona; Nicola Strenzke; Dirk Beutner; Nikul Amin; James Arwyn-Jones; Deepak Chandrasekeharan; Dazhi Shi; Di Zhang; Jianming Yang; Jieyu Qi; Qin Wang; Yanbo Yin; Yen-Fu Cheng; Yong Tao; Yongfu Yu; Daqi Wang; Luoying Jiang; Luo Guo; Liheng Chen; Xiaoting Cheng; Chong Cui; Jun Lv; Shuang Han; Wuqing Wang; Yongxin Li; Xia Gao; Xue Zhong Liu; Dingjun Zha; Haibo Shi; Bing Chen; Qiuju Wang; Huijun Yuan; Shiming Yang; Shankai Yin; Hao Wu; Zhengmin Wang; Huawei Li; Jay T. Rubinstein; Lawrence R. Lustig; Renjie Chai; Zheng-Yi Chen; Yilai Shu
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Uncovering dual molecular diagnoses in families with complex phenotypes through structural and clinical studies of novel COL4A6 variants通过结构分析和临床研究揭示复杂表型家族中新型COL4A6变异体的双重分子诊断
err2025-10-15
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errOAAI
errDaniel Owrang; Aboulfazl Rad; Constantin Cretu; Sheng-Jia Lin; Hafiz Muhammad Mustafa; Kevin Huang; Nadia Waheed; Maqbool Hussain; Sadia Riaz; Julia Preobraschenski; Gaurav K Varshney; Gabriela Oprea; Barbara Vona
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Protocol for a minigene splice assay using the pET01 vector使用pET01载体的最小基因剪接分析协议
err2025-09-19
err1
errOAAI
errAndreae, Hannah; Curcio, Marialessandra; Owrang, Daniel; Esmaeelpour, Sahar; Jahnke, Friederike; Benseler, Fritz; Brose, Nils; Vona, Barbara
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A clinical and genotype-phenotype analysis of MACF1 variantsMACF1变异的临床与基因型-表型分析
err2025-09-08
err0
PREAI
errJordy Dekker; Rachel Schot; Kimberly A. Aldinger; David B. Everman; Camerun Washington; Julie R. Jones; Jennifer A. Sullivan; Rebecca C. Spillmann; Vandana Shashi; Antonio Vitobello; Anne-Sophie Denommé-Pichon; Anne-Laure Mosca-Boidron; Laurence Perrin; Stéphane Auvin; Maha S. Zaki; Joseph G. Gleeson; Naomi Meave; Cassidy Wallace; Sophie Nambot; Julian Delanne; Sarah M. Ruggiero; Ingo Helbig; Mark P. Fitzgerald; Richard J. Leventer; Dorothy K. Grange; Emanuela Argilli; Elliott H. Sherr; Supraja Prakash; Derek E. Neilson; Francesco Nicita; Antonella Sferra; Enrico S. Bertini; Chiara Aiello; Knut Brockmann; Alexander B. Kuranov; Silke Kaulfuss; Sulman Basit; Majed Alluqmani; Ahmad Almatrafi; Jan M. Friedman; Colleen Guimond; Faruq Mohammed; Pooja Sharma; Divya Goel; Thomas Wirth; Mathieu Anheim; Paulina Bahena; Asuman Koparir; Konstantinos Kolokotronis; Barbara Vona; Thomas Haaf; Erdmute Kunstmann; Reza Maroofian; Henrike L. Sczakiel; Felix Boschann; Mala Misra-Isrie; Raymond J. Louie; Elliot S. Stolerman; Pedro A. Sanchez-Lara; Sandra Mergler; Renske Oegema; Yuri A. Zarate; Ariana Kariminejad; Homa Tajsharghi; Shimriet Zeidler; Anneke J.A. Kievit; Arjan Bouman; Gerarda Cappuccio; Nicola Brunetti-Pierri; Kyra E. Stuurman; Dayna Morel Swols; Mustafa Tekin; Jariya Upadia; Donna M. Martin; Daniel Craven; Susan M. Hiatt; Laura A. van de Pol; Felice D'Arco; Henri Margot; Martina Wilke; Soheil Yousefi; Tahsin Stefan Barakat; Monique M. van Veghel-Plandsoen; Eleonora Aronica; Jasper Anink; Stephen L. Rogers; Kevin C. Slep; Dan Doherty; William B. Dobyns; Grazia M.S. Mancini
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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over timeClinGen对听力损失相关基因的再注释表明基因-疾病有效性随时间发生显著变化
err2025-09-07
err0
PREAI
errKezang C. Tshering; Marina T. DiStefano; Andrea M. Oza; Pamela Ajuyah; Ryan Webb; Enyonam Edoh; Ellie Broeren; Julie Ratliff; Vanessa Gitau; Kelley Paris; Amal Aburyyan; John Alexander; Victoria Albano; Donglin Bai; Kevin T.A. Booth; Paula I. Buonfiglio; Cherine Charfeddine; Viviana Dalamón; Ignacio del Castillo; Miguel Angel Moreno-Pelayo; Hatice Duzkale; Ben Dorshorst; Rabia Faridi; Margaret Kenna; Morag A. Lewis; Minjie Luo; Yu Lu; Rahma Mkaouar; Tatsuo Matsunaga; Kiyomitsu Nara; Arti Pandya; Shelby Redfield; Isabelle Roux; Lisa A. Schimmenti; Isabelle Schrauwen; Sherin Shaaban; Jun Shen; Barbara Vona; Richard J. Smith; Heidi L. Rehm; Hela Azaiez; Ahmad N. Abou Tayoun; Sami S. Amr
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A programmed decline in ribosome levels governs human early neurodevelopment程序性核糖体水平下降调控人类早期神经发育
err2025-08-04
err0
errOAAI
errChunyang Ni; Yudong Wei; Barbara Vona; Dayea Park; Yulei Wei; Daniel A. Schmitz; Yi Ding; Masahiro Sakurai; Emily Ballard; Leijie Li; Yan Liu; Ashwani Kumar; Chao Xing; Shenlu Qin; Sangin Kim; Martina Foglizzo; Jianchao Zhao; Hyung-Goo Kim; Cumhur Ekmekci; Ehsan Ghayoor Karimiani; Shima Imannezhad; Fatemeh Eghbal; Reza Shervin Badv; Eva Maria Christina Schwaibold; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Zahra Metanat; Hosein Eslamiyeh; Ebtissal Khouj; Saleh Mohammed Nasser Alhajj; Aziza Chedrawi; Khushnooda Ramzan; Jamil A. Hashmi; Majed M. Alluqmani; Sulman Basit; Danai Veltra; Nikolaos M. Marinakis; Georgios Niotakis; Pelagia Vorgia; Christalena Sofocleous; Hane Lee; Won Chan Jeong; Muhammad Umair; Muhammad Bilal; César Augusto Pinheiro Ferreira Alves; Matthew Sieber; Michael Kruer; Henry Houlden; Fowzan S. Alkuraya; Elton Zeqiraj; Roger A. Greenberg; Can Cenik; Leqian Yu; Reza Maroofian; Jun Wu; Michael Buszczak
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Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population巴基斯坦人群中与听力损失相关的基因中的复发和新型致病性变异
err2025-05-16
err0
errOAAI
errMadiha Shadab; Afif Ben-Mahmoud; Luis Nicolás Martínez Völter; Ansar Ahmed Abbasi; Bonsu Ku; Ahsan Ejaz; Zahid Latif; Vijay Gupta; Daniel Owrang; Mi-Hyeon Jang; Zijin Zhang; Rahema Mohammad; Henry Houlden; Hyung-Goo Kim; Barbara Vona
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A TAF11 variant contributes to non-syndromic cleft lip only through modulating neural crest cell migration
err2024-12-27
err0
PREAI
errLi, Dandan; Tian, Yu; Vona, Barbara; Yu, Xin; Lin, Junyan; Ma, Lan; Lou, Shu; Li, Xiaofeng; Zhu, Guirong; Wang, Yuting; Du, Mulong; Wang, Lin; Pan, Yongchu
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Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphism
err2024-12-12
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errOAAI
errRahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Anjum, Muhammad Nadeem; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Alves, Cesar Augusto; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza
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Catching up but still miles behind-a patient registry for otoferlin
err2024-06-03
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errOAAI
errVona, Barbara; Wollnik, Bernd; Strenzke, Nicola; Moser, Tobias
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