Browsing Universitätsbibliographie by Author "Vona, Barbara"

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Browsing Universitätsbibliographie by Author "Vona, Barbara"

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  • A Novel Homozygous ADCY5 Variant is Associated with a Neurodevelopmental Disorder and Movement Abnormalities
    Kaiyrzhanov, Rauan; Zaki, Maha S.; Maroofian, Reza; Dominik, Natalia; Rad, Aboulfazl; Vona, Barbara; Houlden, Henry (2021)
  • A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German family
    Doll, Julia; Hofrichter, Michaela A. H.; Bahena, Paulina; Heihoff, Alfred; Segebarth, Dennis; Mueller, Tobias; Dittrich, Marcus; Haaf, Thomas; Vona, Barbara (2020)
  • Age-related hearing loss pertaining to potassium ion channels in the cochlea and auditory pathway
    Peixoto Pinheiro, Barbara; Vona, Barbara; Loewenheim, Hubert; Ruettiger, Lukas; Knipper, Marlies; Adel, Youssef (2021)
  • Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders
    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-Schoeneborn, 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; Basto, Jorge Pinto; Kortuem, 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; Lourenco, 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 (2024)
  • Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
    Yap, Zheng Yie; Efthymiou, Stephanie; Seiffert, Simone; Parra, Karen Vargas; Lee, Sukyeong; Nasca, Alessia; Maroofian, Reza; Schrauwen, Isabelle; Pendziwiat, Manuela; Jung, Sunhee; Bhoj, Elizabeth; Striano, Pasquale; Mankad, Kshitij; Vona, Barbara; Cuddapah, Sanmati; Wagner, Anja; Alvi, Javeria Raza; Davoudi-Dehaghani, Elham; Fallah, Mohammad-Sadegh; Gannavarapu, Srinitya; Lamperti, Costanza; Legati, Andrea; Murtaza, Bibi Nazia; Nadeem, Muhammad Shahid; Rehman, Mujaddad Ur; Saeidi, Kolsoum; Salpietro, Vincenzo; von Spiczak, Sarah; Sandoval, Abigail; Zeinali, Sirous; Zeviani, Massimo; Reich, Adi; Jang, Cholsoon; Helbig, Ingo; Barakat, Tahsin Stefan; Ghezzi, Daniele; Leal, Suzanne M.; Weber, Yvonne; Houlden, Henry; Yoon, Wan Hee (2021)
  • Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
    Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B. (2021)
  • Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion
    Lekszas, Caroline; Foresti, Ombretta; Raote, Ishier; Lietdke, Daniel; Koenig, Eva-Maria; Nanda, Indrajit; Vona, Barbara; De Coster, Peter; Cauwels, Rita; Malhotra, Vivek; Haaf, Thomas (2020)
  • Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
    Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G.; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T.; Aubertin, Gudrun; Estrada-Veras, Juvianee I.; Hernandez, Hector Adrian Diaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L.; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S.; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z.; Mora, Sara; Palculict, Timothy B.; Yang, Hui; Wren, Jonathan D.; Fowler, Ben; Joshi, Manali; Behra, Martine; Burgess, Shawn M.; Nath, Swapan K.; Hanna, Michael G.; Kenna, Margaret; Merritt, J. Lawrence, II; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S.; Haaf, Thomas; Alkuraya, Fowzan S.; Gleeson, Joseph G.; Varshney, Gaurav K. (2021)
  • Big data in der Diagnostik genetischer Schwerhörigkeit
    Vona, Barbara; Mueller, Marcus; Dofek, Saskia; Holderried, Martin; Loewenheim, Hubert; Tropitzsch, Anke (2019)
  • Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study
    Tropitzsch, Anke; Schade-Mann, Thore; Gamerdinger, Philipp; Dofek, Saskia; Schulte, Bjoern; Schulze, Martin; Battke, Florian; Fehr, Sarah; Biskup, Saskia; Heyd, Andreas; Mueller, Marcus; Loewenheim, Hubert; Vona, Barbara; Holderried, Martin (2022)
  • Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity
    Lin, Sheng-Jia; Vona, Barbara; Lau, Tracy; Huang, Kevin; Zaki, Maha S.; Aldeen, Huda Shujaa; Karimiani, Ehsan Ghayoor; Rocca, Clarissa; Noureldeen, Mahmoud M.; Saad, Ahmed K.; Petree, Cassidy; Bartolomaeus, Tobias; Abou Jamra, Rami; Zifarelli, Giovanni; Gotkhindikar, Aditi; Wentzensen, Ingrid M.; Liao, Mingjuan; Cork, Emalyn Elise; Varshney, Pratishtha; Hashemi, Narges; Mohammadi, Mohammad Hasan; Rad, Aboulfazl; Neira, Juanita; Toosi, Mehran Beiraghi; Knopp, Cordula; Kurth, Ingo; Challman, Thomas D.; Smith, Rebecca; Abdalla, Asmahan; Haaf, Thomas; Suri, Mohnish; Joshi, Manali; Chung, Wendy K.; Moreno-De-Luca, Andres; Houlden, Henry; Maroofian, Reza; Varshney, Gaurav K. (2023)
  • Exome-wide copy number variation analysis identifies a COL9A1 in frame deletion that is associated with hearing loss
    Hofrichter, Michaela A. H.; Doll, Julia; Habibi, Haleh; Enayati, Samaneh; Mehrjardi, Mohammad Yahya Vahidi; Mueller, Tobias; Dittrich, Marcus; Haaf, Thomas; Vona, Barbara (2019)
  • Expanding the clinical phenotype of IARS2-related mitochondrial disease
    Vona, Barbara; Maroofian, Reza; Bellacchio, Emanuele; Najafi, Maryam; Thompson, Kyle; Alahmad, Ahmad; He, Langping; Ahangari, Najmeh; Rad, Abolfazl; Shahrokhzadeh, Sima; Bahena, Paulina; Mittag, Falk; Traub, Frank; Movaffagh, Jebrail; Amiri, Nafise; Doosti, Mohammad; Boostani, Reza; Shirzadeh, Ebrahim; Haaf, Thomas; Diodato, Daria; Schmidts, Miriam; Taylor, Robert W.; Karimiani, Ehsan Ghayoor (2018)
  • Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy
    Efthymiou, Stephanie; Dutra-Clarke, Marina; Maroofian, Reza; Kaiyrzhanov, Rauan; Scala, Marcello; Alvi, Javeria Reza; Sultan, Tipu; Christoforou, Marilena; Nguyen, Thi Tuyet Mai; Mankad, Kshitij; Vona, Barbara; Rad, Aboulfazl; Striano, Pasquale; Salpietro, Vincenzo; Sacoto, Maria J. Guillen; Zaki, Maha S.; Gleeson, Joseph G.; Campeau, Philippe M.; Russell, Bianca E.; Houlden, Henry (2021)
  • Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
    Doll, Julia; Vona, Barbara; Schnapp, Linda; Rueschendorf, Franz; Khan, Imran; Khan, Saadullah; Muhammad, Noor; Alam Khan, Sher; Nawaz, Hamed; Khan, Ajmal; Ahmad, Naseer; Kolb, Susanne M.; Kuehlewein, Laura; Labonne, Jonathan D. J.; Layman, Lawrence C.; Hofrichter, Michaela A. H.; Roder, Tabea; Dittrich, Marcus; Mueller, Tobias; Graves, Tyler D.; Kong, Il-Keun; Nanda, Indrajit; Kim, Hyung-Goo; Haaf, Thomas (2020)
  • MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss
    Bademci, Guney; Abad, Clemer; Incesulu, Armagan; Rad, Abolfazl; Alper, Ozgul; Kolb, Susanne M.; Cengiz, Filiz B.; Diaz-Horta, Oscar; Silan, Fatma; Mihci, Ercan; Ocak, Emre; Najafi, Maryam; Maroofian, Reza; Yilmaz, Elanur; Nur, Banu G.; Duman, Duygu; Guo, Shengru; Sant, David W.; Wang, Gaofeng; Monje, Paula V.; Haaf, Thomas; Blanton, Susan H.; Vona, Barbara; Walz, Katherina; Tekin, Mustafa (2018)
  • Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients
    Doll, Julia; Kolb, Susanne; Schnapp, Linda; Rad, Aboulfazl; Ruschendorf, Franz; Khan, Imran; Adli, Abolfazl; Hasanzadeh, Atefeh; Liedtke, Daniel; Knaup, Sabine; Hofrichter, Michaela A. H.; Mueller, Tobias; Dittrich, Marcus; Kong, Il-Keun; Kim, Hyung-Goo; Haaf, Thomas; Vona, Barbara (2020)
  • Radixin modulates the function of outer hair cell stereocilia
    Prasad, Sonal; Vona, Barbara; Dineiro, Marta; Costales, Maria; Gonzalez-Aguado, Rocio; Fontalba, Ana; Diego-Perez, Clara; Subasioglu, Asli; Bademci, Guney; Tekin, Mustafa; Cabanillas, Ruben; Cadinanos, Juan; Fridberger, Anders (2020)
  • SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
    Lin, Yuh-Charn; Niceta, Marcello; Muto, Valentina; Vona, Barbara; Pagnamenta, Alistair T.; Maroofian, Reza; Beetz, Christian; van Duyvenvoorde, Hermine; Dentici, Maria Lisa; Lauffer, Peter; Vallian, Sadeq; Ciolfi, Andrea; Pizzi, Simone; Bauer, Peter; Gruening, Nana-Maria; Bellacchio, Emanuele; Del Fattore, Andrea; Petrini, Stefania; Shaheen, Ranad; Tiosano, Dov; Halloun, Rana; Ben Pode-Shakked; Albayrak, Hatice Mutlu; Isik, Emreguel; Wit, Jan M.; Dittrich, Marcus; Freire, Bruna L.; Bertola, Debora R.; Jorge, Alexander A. L.; Barel, Ortal; Sabir, Ataf H.; Al Tenaiji, Amal M. J.; Taji, Sulaima M.; Al-Sannaa, Nouriya; Al-Abdulwahed, Hind; Digilio, Maria Cristina; Irving, Melita; Anikster, Yair; Bhavani, Gandham S. L.; Girisha, Katta M.; Haaf, Thomas; Taylor, Jenny C.; Dallapiccola, Bruno; Alkuraya, Fowzan S.; Yang, Ruey-Bing; Tartaglia, Marco (2021)
  • The Many Faces of DFNB9: Relating OTOF Variants to Hearing Impairment
    Vona, Barbara; Rad, Aboulfazl; Reisinger, Ellen (2020)