基本信息
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个人简介
I am interested characterizing human Mendelian disorders using modern molecular techniques. My interests involve characterizing novel genes and variants that are implicated in hereditary hearing loss and using mouse models and cell-based approaches to study gene and variant function. I am particularly interested in studying splicing variants. Longer-term interests involve the incorporation of experimental therapeutic strategies for preventing or treating hearing loss.
研究兴趣
论文共 133 篇作者统计合作学者相似作者
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Kezang 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, ClinGen Hearing Loss Clinical Domain Working Group
Genetics in medicine official journal of the American College of Medical Geneticsno. 5 (2025): 101392-101392
Hannah Andreae, Marialessandra Curcio, Sahar Esmaeelpour, Friederike Jahnke, Fritz Benseler, Nils Brose,Barbara Vona
biorxiv(2025)
Reza Maroofian,Mina Zamani,Rauan Kaiyrzhanov,Lutz Liebmann,Ehsan Ghayoor Karimiani,Barbara Vona,Antje K. Huebner,Daniel G. Calame,Vinod K. Misra,Saeid Sadeghian,Reza Azizimalamiri,Mohammad Hasan Mohammadi,Jawaher Zeighami,Sogand Heydaran,Mehran Beiraghi Toosi,Javad Akhondian,Meisam Babaei,Narges Hashemi,Rhonda E. Schnur,Mohnish Suri, Jonas Setzke,Matias Wagner,Theresa Brunet,Christopher M. Grochowski,Lisa Emrick,Wendy K. Chung,Ute A. Hellmich,Miriam Schmidts,James R. Lupski,Hamid Galehdari,Mariasavina Severino,Henry Houlden,Christian A. Huebner
GENETICS IN MEDICINEno. 3 (2024)
Stephanie Efthymiou,Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska,Fenne L. Komdeur, Robin A. Liang,Mohamed S. Abdel-Hamid,Tipu Sultan,Tuva Baroy,Marijke Van Ghelue,Barbara Vona,Reza Maroofian,Faisal Zafar,Fowzan S. Alkuraya,Maha S. Zaki,Mariasavina Severino, Kingsley C. Duru,Robert C. Tryon, Lin Vigdis Brauteset,Morad Ansari,Mark Hamilton,Mieke M. van Haelst,Gijs van Haaften,Federico Zara,Henry Houlden,Eric Samarut,Colin G. Nichols,Marie F. Smeland,Conor Mcclenaghan
Brain (2024)
Dandan Li, Yu Tian,Barbara Vona,Xin Yu, Junyan Lin,Lan Ma,Shu Lou, Xiaofeng Li,Guirong Zhu, Yuting Wang,Mulong Du,Lin Wang,Yongchu Pan
Chunyang Ni,Leqian Yu,Barbara Vona, Dayea Park,Yulei Wei,Daniel A Schmitz, Yudong Wei,Yi Ding,Masahiro Sakurai,Emily Ballard,Yan Liu,Ashwani Kumar,Chao Xing,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,César Augusto Pinheiro Ferreira Alves,Henry Houlden,Michael Kruer,Fowzan S Alkuraya,Can Cenik,Reza Maroofian,Jun Wu,Michael Buszczak
bioRxiv the preprint server for biology (2024)
CLINICAL GENETICSno. 4 (2024): 413-426
Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica,Luis Seabra, Anette Siggervåg,Perrine Devic,Hanan E. Shamseldin,Jana Vandrovcova,David Murphy,Anne-Claire Richard,Olivier Quenez,Antoine Bonnevalle,M. Natalia Zanetti,Rauan Kaiyrzhanov,Vincenzo Salpietro,Stephanie Efthymiou,Lucia V. Schottlaender,Heba Morsy,Annarita Scardamaglia,Ambreen Tariq,Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella,Nina Glomnes,Kirsten M. Brønstad,Sandrine Tury,Andrés Moreno De Luca,Anne Boland-Auge,Robert Olaso,Jean-François Deleuze,Mathieu Anheim,Benjamin Cretin,Barbara Vona, Fahad Alajlan,Firdous Abdulwahab,Jean-Luc Battini,Rojan İpek,Peter Bauer,Giovanni Zifarelli,Serdal Gungor,Semra Hiz Kurul,Hanns Lochmuller,Sahar I. Da’as,Khalid A. Fakhro,Alicia Gómez-Pascual,Juan A. Botía,Nicholas W. Wood,Rita Horvath,Andreas M. Ernst,James E. Rothman,Meriel McEntagart,Yanick J. Crow,Fowzan S. Alkuraya,Gaël Nicolas,Henry Houlden,Thomas Arnesen
NATURE COMMUNICATIONSno. 1 (2024)
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作者统计
#Papers: 134
#Citation: 1032
H-Index: 17
G-Index: 28
Sociability: 7
Diversity: 3
Activity: 40
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