Barbara Vona (B Vona)

Loop profile ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 83

Top Venues

European journal of human genetics : EJHG

Human genetics

International journal of molecular sciences

Brain : a journal of neurology

University of Tuebingen

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Tuebingen

Germany

Junior Group Leader :: Tuebingen Hearing Research Center, Dept. of Otolaryngology, Head and Neck Surgery

Publications

Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tobias Moser
Catching up but still miles behind-a patient registry for otoferlin. Experimental & molecular medicine (2024)
Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona
Gene therapy for deafness: are we there now? EMBO molecular medicine (2024)
Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona
Gene therapy for deafness: are we there now? EMBO molecular medicine 16 (4) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona
Gene therapy for deafness: are we there now? EMBO molecular medicine 16 (4) (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami 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
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Barbara Vona
Rethinking non-syndromic hearing loss and its mimics in the genomic era. European journal of human genetics : EJHG (2024)
Lan Ma, Xi Zhou, Siyue Yao, Xinyu Zhang, Ji Mao, Barbara Vona, Liwen Fan, Shu Lou, Dandan Li, Lin Wang, Yongchu Pan
METTL3-dependent m 6 A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway. Cell death & disease 15 (3) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben-Mahmoud, Vijay Gupta, Hyung-Goo Kim, Barbara Vona
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades. Journal of cellular and molecular medicine 28 (8) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tobias Moser
Catching up but still miles behind-a patient registry for otoferlin. Experimental & molecular medicine 56 (6) (2024)
Aboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola P Monteiro, Fernando Kok, Anneke T Vulto-van Silfhout, Michael C Kruer, Michael R Bowl, Barbara Vona
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature. Clinical genetics 106 (4) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami 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
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Lan Ma, Xi Zhou, Siyue Yao, Xinyu Zhang, Ji Mao, Barbara Vona, Liwen Fan, Shu Lou, Dandan Li, Lin Wang, Yongchu Pan
METTL3-dependent m 6 A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway. Cell death & disease 15 (3) (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, 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, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, 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, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona
Gene therapy for deafness: are we there now? EMBO molecular medicine 16 (4) (2024)
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tobias Moser
Catching up but still miles behind-a patient registry for otoferlin. Experimental & molecular medicine 56 (6) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami 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
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology 147 (5) (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics 143 (3) (2024)
Lan Ma, Xi Zhou, Siyue Yao, Xinyu Zhang, Ji Mao, Barbara Vona, Liwen Fan, Shu Lou, Dandan Li, Lin Wang, Yongchu Pan
METTL3-dependent m 6 A modification of PSEN1 mRNA regulates craniofacial development through the Wnt/β-catenin signaling pathway. Cell death & disease 15 (3) (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Stephanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L Komdeur, Robin A Liang, Mohamed S Abdel-Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan Sami 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
Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome. Brain : a journal of neurology (2024)
Francesca Magrinelli, Christelle Tesson, Plamena R Angelova, Ainara Salazar-Villacorta, Jose A Rodriguez, Annarita Scardamaglia, Brian Hon-Yin Chung, Matthew Jaconelli, Barbara Vona, Noemí Esteras, Anna Ka-Yee Kwong, Thomas Courtin, Reza Maroofian, Shahryar Alavi, Raja S Nirujogi, Mariasavina Severino, Patrick A Lewis, Stephanie Efthymiou, Benjamin J O'Callaghan, Rebecca Buchert, Linda Sofan, Pawel Lis, Chloé Pinon, Guido J Breedveld, Martin Man Chun Chui, David P Murphy, Vanessa Pitz, Mary B Makarious, Marlene Cassar, Bassem A Hassan, Sana Iftikhar, Clarissa Rocca, Peter Bauer, Michele Tinazzi, Marina Svetel, Bedia Samanci, Hasmet A Hanagasi, Basar Bilgiç, Jose A Obeso, Mónica M Kurtis, Guillaume Cogan, Ayse Nazli Basak, Güneş Kiziltan, Tuğçe Gül, Gül Yalçın Çakmaklı, Bülent Elibol, Nina Barisic, 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, Christine Fauth, Ulrich A Schatz, Thomas Zöggeler, Michael Zech, Karen L Stals, Vinod C Varghese, Sonia Gandhi, Cornelis Blauwendraat, John A Hardy, Suzanne Lesage, Vincenzo Bonifati, Tobias B Haack, Aida Maria Bertoli-Avella, Robert Steinfeld, Dario R Alessi, Hermann Steller, Alexis Brice, Andrey Y Abramov, Kailash P Bhatia, Henry Houlden
PSMF1 variants cause a phenotypic spectrum from early-onset Parkinson's disease to perinatal lethality by disrupting mitochondrial pathways. medRxiv : the preprint server for health sciences (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
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 S Al-Ajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmüller, Sahar Isa 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 Sami Alkuraya, Gaël Nicolas, null null, Thomas Arnesen, Henry Houlden
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications. Nature communications 15 (1) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Asuman Koparir, Caroline Lekszas, Kemal Keseroğlu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M Özbudak, Barbara Vona, Thomas Haaf, Daniel Liedtke
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human genomics 18 (1) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Madiha Shadab, Ansar Ahmed Abbasi, Ahsan Ejaz, Afif Ben-Mahmoud, Vijay Gupta, Hyung-Goo Kim, Barbara Vona
Autosomal recessive non-syndromic hearing loss genes in Pakistan during the previous three decades. Journal of cellular and molecular medicine 28 (8) (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG 32 (6) (2024)
Barbara Vona, Bernd Wollnik, Nicola Strenzke, Tobias Moser
Catching up but still miles behind-a patient registry for otoferlin. Experimental & molecular medicine 56 (6) (2024)
Masoome Alerasool, Atieh Eslahi, Barbara Vona, Mir Salar Kahaei, Nasrin Kaseb Mojaver, Mohsen Rajati, Alireza Pasdar, Mohammad Mehdi Ghasemi, Ehsan Saburi, Reza Mousavi Ardehaie, Majid Hadadi Aval, Mohammad Reza Tale, Navid Nourizadeh, Mohammad Reza Afzalzadeh, Hamid Tayarani Niknezhad, Majid Mojarrad
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis. Clinical genetics (2024)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hanjun Wang, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Hongen Xu, Wei Lu, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human genetics (2024)
Tobias Moser, Han Chen, Kathrin Kusch, Rüdiger Behr, Barbara Vona
Gene therapy for deafness: are we there now? EMBO molecular medicine 16 (4) (2024)
Aboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, Changlian Zhu, Yiran Xu, Fabíola P Monteiro, Fernando Kok, Anneke T Vulto-van Silfhout, Michael C Kruer, Michael R Bowl, Barbara Vona
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature. Clinical genetics (2024)
Memoona Ramzan, Mohammad Faraz Zafeer, Clemer Abad, Shengru Guo, Daniel Owrang, Ozgul Alper, Ahmet Mutlu, Tahir Atik, Duygu Duman, Guney Bademci, Barbara Vona, Mahmut Tayyar Kalcioglu, Katherina Walz, Mustafa Tekin
Genetic heterogeneity in hereditary hearing loss: Potential role of kinociliary protein TOGARAM2. European journal of human genetics : EJHG (2024)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Barbara Vona
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey. European journal of human genetics : EJHG (2023)
Shelby E Redfield, Pedro De-la-Torre, Mina Zamani, Hina Khan, Tyler Morris, Gholamreza Shariati, Majid Karimi, Margaret A Kenna, Go Hun Seo, Sadaf Naz, Hamid Galehdari, Artur A Indzhykulian, Aiden Eliot Shearer, Barbara Vona
PKHD1L1 , A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss. medRxiv : the preprint server for health sciences (2023)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Saadia Maryam Saadi, Elisa Cali, Lubaba Bintee Khalid, Hammad Yousaf, Ghazala Zafar, Haq Nawaz Khan, Muhammad Sher, Barbara Vona, Uzma Abdullah, Naveed Altaf Malik, Joakim Klar, Stephanie Efthymiou, Niklas Dahl, Henry Houlden, Mathias Toft, Shahid Mahmood Baig, Ambrin Fatima, Zafar Iqbal
Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders. Genes 14 (7) (2023)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Guarav K Varshney, Henry Houlden, Reza Maroofian
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain : a journal of neurology (2023)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Martje G Pauly, Norbert Brüggemann, Stephanie Efthymiou, Anne Grözinger, Sokhna Haissatou Diaw, Viorica Chelban, Valentina Turchetti, Barbara Vona, Vera Tadic, Henry Houlden, Alexander Münchau, Katja Lohmann
Not to Miss: Intronic Variants, Treatment, and Review of the Phenotypic Spectrum in VPS13D -Related Disorder. International journal of molecular sciences 24 (3) (2023)
Eyyup Uctepe, Barbara Vona, Fatma Nisa Esen, F Mujgan Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yesilyurt
Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly. European journal of human genetics : EJHG (2023)
Jonas Engert, Julia Doll, Barbara Vona, Totta Ehret Kasemo, Bjoern Spahn, Rudolf Hagen, Kristen Rak, Johannes Völker
mRNA Abundance of Neurogenic Factors Correlates with Hearing Capacity in Auditory Brainstem Nuclei of the Rat. Life (Basel, Switzerland) 13 (9) (2023)
Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan G Karimiani, Anna-Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrosio Fock, Christian Beetz, Claudia A L Ruivenkamp, Alison J Eaton, Francois D Morneau-Jacob, Lena Sagi-Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad-Halloun, Daan J Kamphuis, Cacha M P C D Peeters-Scholte, Semra Hiz Kurul, Rita Horvath, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M Muir, Aboulfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna S Povolotskaya, Victoria Y Voinova, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Fowzan Sami Alkuraya, Heather C Mefford, Majid Alfadhel, Tobias B Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst-Hofstee, Henry Houlden
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. Brain : a journal of neurology 145 (7) (2022)
Bettina Julia Wolf, Katharina Kusch, Victoria T Hunniford, Barbara Vona, Robert Kühler, Daniel Keppeler, Nicola Strenzke, Tobias Moser
Is there an unmet medical need for improved hearing restoration? EMBO molecular medicine 14 (8) (2022)
Rauan Kaiyrzhanov, Luke Daniel Perry, Clarissa Rocca, Maha S Zaki, Heba Hosny, Cristiane Araujo Martins Moreno, Rahul Phadke, Irina T Zaharieva, Clara Camelo Gontijo, Christian Beetz, Veronica Pini, Mojtaba Movahedinia, Edmar Zanoteli, Stephanie DiTroia, Sandrine Vuillaumier-Barrot, Arnaud Isapof, Mohammad Yahya Vahidi Mehrjardi, Nasrin Ghasemi, Anna Sarkozy, Francesco Muntoni, Sandra Whalen, Barbara Vona, Henry Houlden, Reza Maroofian
GGPS1-associated muscular dystrophy with and without hearing loss. Annals of clinical and translational neurology 9 (9) (2022)
Barbara Vona, D A Schwartzbaum, A A Rodriguez, S S Lewis, M B Toosi, P Radhakrishnan, Nazim Bozan, Ramazan Akın, M Doosti, R Manju, Duygu Duman, C J Sineni, Sheela Nampoothiri, E G Karimiani, Henry Houlden, Güney Bademci, Mustafa Tekin, Katta Mohan Girisha, Reza Maroofian, Sofia Douzgou Houge
Biallelic KITLG variants lead to a distinct spectrum of hypomelanosis and sensorineural hearing loss. Journal of the European Academy of Dermatology and Venereology : JEADV 36 (9) (2022)
Luis Carlos Tábara, Fatema Al-Salmi, Reza Maroofian, Amna Mohammed Al-Futaisi, Fathiya Al-Murshedi, Joanna Kennedy, Jacob O Day, Thomas Courtin, Aisha Al-Khayat, Hamid Galedari, Neda Mazaheri, Margherita Protasoni, Mark Johnson, Joseph S Leslie, Claire G Salter, Lettie E Rawlins, James Fasham, Almundher Al-Maawali, Nikol Voutsina, Perrine Charles, Laura Harrold, Boris Keren, Edmund R S Kunji, Barbara Vona, Gholamreza Jelodar, Alireza Sedaghat, Gholamreza Shariati, Henry Houlden, Andrew H Crosby, Julien Prudent, Emma L Baple
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain : a journal of neurology 145 (9) (2022)
Siyue Yao, Xi Zhou, Barbara Vona, Liwen Fan, Chengcheng Zhang, Dandan Li, Hua Yuan, Yifei Du, Lan Ma, Yongchu Pan
Skeletal Class III Malocclusion Is Associated with ADAMTS2 Variants and Reduced Expression in a Familial Case. International journal of molecular sciences 23 (18) (2022)
Nina Bögershausen, Hannah E Krawczyk, Rami A Jamra, Sheng-Jia Lin, Gökhan Yigit, Irina Hüning, Anna M Polo, Barbara Vona, Kevin Huang, Julia Schmidt, Janine Altmüller, Johannes Luppe, Konrad Platzer, Beate B Dörgeloh, Andreas Busche, Saskia Biskup, Marisa I Mendes, Desiree E C Smith, Gajja S Salomons, Arne Zibat, Eva Bültmann, Peter Nürnberg, Malte Spielmann, Johannes R Lemke, Yun Li, Martin Zenker, Gaurav K Varshney, Hauke S Hillen, Christian P Kratz, Bernd Wollnik
WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly. Human mutation 43 (10) (2022)
Sheng-Jia Lin, Barbara Vona, Hillary M Porter, Mahmoud Izadi, Kevin Huang, Yves Lacassie, Jill Anne Rosenfeld, Saadullah Khan, Cassidy Petree, Tayyiba Akbar Ali, Nazif Muhammad, Sher Alam Khan, Noor Muhammad, Pengfei Liu, Marie-Louise Haymon, Franz Rüschendorf, Il-Keun Kong, Linda Schnapp, Natasha Shur, Lynn P Chorich, Lawrence C Layman, Thomas Haaf, Ehsan Pourkarimi, Hyung-Goo Kim, Guarav K Varshney
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human mutation 43 (10) (2022)
Barbara Vona
The Road Traveled and Journey Ahead for the Genetics and Genomics of Tinnitus. Molecular diagnosis & therapy 26 (2) (2022)
Stephanie Efthymiou, Marina Dutra-Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J Guillen Sacoto, Maha S Zaki, Joseph G Gleeson, Philippe M Campeau, Bianca E Russell, Henry Houlden
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia 62 (2) (2021)
Barbara Vona, Neda Mazaheri, Sheng-Jia Lin, Lucy A Dunbar, Reza Maroofian, Hela Azaiez, Kevin T A Booth, Sandrine Vitry, Aboulfazl Rad, Franz Rüschendorf, Pratishtha Varshney, Ben Fowler, Christian Beetz, Kumar N Alagramam, David P Murphy, Gholamreza Shariati, Alireza Sedaghat, Henry Houlden, Cassidy Petree, Shruthi VijayKumar, Richard J H Smith, Thomas Haaf, Aziz El-Amraoui, Michael R Bowl, Guarav K Varshney, Hamid Galehdari
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human genetics 140 (6) (2021)
Barbara Vona, Aboulfazl Rad, Ellen Reisinger
The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment. Genes 11 (12) (2020)
Julia Doll, Barbara Vona, Linda Schnapp, Franz Rüschendorf, Imran Khan, Saadullah Khan, Noor Muhammad, Sher Alam Khan, Hamed Nawaz, Ajmal Khan, Naseer Ahmad, Susanne M Kolb, Laura Kuehlewein, Jonathan D J Labonne, Lawrence C Layman, Michaela A H Hofrichter, Tabea Röder, Marcus Dittrich, Tobias Müller, Tyler D Graves, Il-Keun Kong, Indrajit Nanda, Hyung-Goo Kim, Thomas Haaf
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families. Genes 11 (11) (2020)
Julia Doll, Michaela A H Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf, Barbara Vona
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family. Molecular genetics & genomic medicine 8 (8) (2020)
Barbara Peixoto Pinheiro, Barbara Vona, Hubert Löwenheim, Lukas Rüttiger, Marlies Knipper, Youssef Adel
Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway. Pflugers Archiv : European journal of physiology 473 (5) (2020)
Sonal Prasad, Barbara Vona, Marta Diñeiro, María Costales, Rocío González-Aguado, Ana Fontalba, Clara Diego-Pérez, Asli Subasioglu, Guney Bademci, Mustafa Tekin, Rubén Cabanillas, Juan Cadiñanos, Anders Fridberger
Radixin modulates the function of outer hair cell stereocilia. Communications biology 3 (1) (2020)
Julia Doll, Susanne Kolb, Linda Schnapp, Aboulfazl Rad, Franz Rüschendorf, Imran Khan, Abolfazl Adli, Atefeh Hasanzadeh, Daniel Liedtke, Sabine Knaup, Michaela Ah Hofrichter, Tobias Müller, Marcus Dittrich, Il-Keun Kong, Hyung-Goo Kim, Thomas Haaf, Barbara Vona
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients. International journal of molecular sciences 21 (1) (2020)
Caroline Lekszas, Ombretta Foresti, Ishier Raote, Daniel Liedtke, Eva-Maria König, Indrajit Nanda, Barbara Vona, Peter De Coster, R G E C Cauwels, Vivek Malhotra, Thomas Haaf
Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion. eLife 9 (2020)
Aboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, Grigoriy A Yanus, Björn Schulte, Marcus Müller, Evgeny N Imyanitov, Saskia Biskup, Hubert Löwenheim, Anke Tropitzsch, Barbara Vona
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus. Human mutation 42 (1) (2020)
Barbara Vona, Michaela A H Hofrichter, Jörg Schröder, Wafaa Shehata-Dieler, Indrajit Nanda, Thomas Haaf
Hereditary hearing loss SNP-microarray pilot study. BMC research notes 11 (1) (2018)
Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W Taylor, Ehsan Ghayoor Karimiani
Expanding the clinical phenotype of IARS2-related mitochondrial disease. BMC medical genetics 19 (1) (2018)
Michaela A H Hofrichter, Majid Mojarad, Julia Doll, Clemens Grimm, Atiye Eslahi, Neda Sadat Hosseini, Mohsen Rajati, Tobias Müller, Marcus Dittrich, Reza Maroofian, Thomas Haaf, Barbara Vona
The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family. BMC medical genetics 19 (1) (2018)

Barbara Vona.css-eqlu8i{font-size:small;padding-left:4px;} (B Vona)

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Barbara Vona (B Vona)