Auflistung Universitätsbibliographie nach Autor "Vona, Barbara"

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Auflistung Universitätsbibliographie nach Autor "Vona, Barbara"

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  • A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
    Vona, Barbara; Mazaheri, Neda; Lin, Sheng-Jia; Dunbar, Lucy A.; Maroofian, Reza; Azaiez, Hela; Booth, Kevin T.; Vitry, Sandrine; Rad, Aboulfazl; Rueschendorf, Franz; Varshney, Pratishtha; Fowler, Ben; Beetz, Christian; Alagramam, Kumar N.; Murphy, David; Shariati, Gholamreza; Sedaghat, Alireza; Houlden, Henry; Petree, Cassidy; VijayKumar, Shruthi; Smith, Richard J. H.; Haaf, Thomas; El-Amraoui, Aziz; Bowl, Michael R.; Varshney, Gaurav K.; Galehdari, Hamid (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)
  • Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus
    Rad, Aboulfazl; Schade-Mann, Thore; Gamerdinger, Philipp; Yanus, Grigoriy A.; Schulte, Bjoern; Mueller, Marcus; Imyanitov, Evgeny N.; Biskup, Saskia; Loewenheim, Hubert; Tropitzsch, Anke; Vona, Barbara (2021)
  • 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 variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
    Ziegler, Alban; Duclaux-Loras, Remi; Revenu, Celine; Charbit-Henrion, Fabienne; Begue, Bernadette; Duroure, Karine; Grimaud, Linda; Guihot, Anne Laure; Desquiret-Dumas, Valerie; Zarhrate, Mohammed; Cagnard, Nicolas; Mas, Emmanuel; Breton, Anne; Edouard, Thomas; Billon, Clarisse; Frank, Michael; Colin, Estelle; Lenaers, Guy; Henrion, Daniel; Lyonnet, Stanislas; Faivre, Laurence; Alembik, Yves; Philippe, Anais; Moulin, Bruno; Reinstein, Eyal; Tzur, Shay; Attali, Ruben; McGillivray, George; White, Susan M.; Gallacher, Lyndon; Kutsche, Kerstin; Schneeberger, Pauline; Girisha, Katta M.; Nayak, Shalini S.; Pais, Lynn; Maroofian, Reza; Rad, Aboulfazl; Vona, Barbara; Karimiani, Ehsan Ghayoor; Lekszas, Caroline; Haaf, Thomas; Martin, Ludovic; Ruemmele, Frank; Bonneau, Dominique; Cerf-Bensussan, Nadine; Del Bene, Filippo; Parlato, Marianna (2021)
  • 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 ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy
    van der Knoop, Marieke M.; Maroofian, Reza; Fukata, Yuko; van Ierland, Yvette; Karimiani, Ehsan G.; Lehesjoki, Anna Elina; Muona, Mikko; Paetau, Anders; Miyazaki, Yuri; Hirano, Yoko; Selim, Laila; de Franca, Marina; Fock, Rodrigo Ambrosio; Beetz, Christian; Ruivenkamp, Claudia A. L.; Eaton, Alison J.; Morneau-Jacob, Francois D.; Sagi-Dain, Lena; Shemer-Meiri, Lilach; Peleg, Amir; Haddad-Halloun, Jumana; Kamphuis, Daan J.; Peeters-Scholte, Cacha M. P. C. D.; Kurul, Semra Hiz; Horvath, Rita; Lochmueller, Hanns; Murphy, David; Waldmueller, Stephan; Spranger, Stephanie; Overberg, David; Muir, Alison M.; Rad, Aboulfazl; Vona, Barbara; Abdulwahad, Firdous; Maddirevula, Sateesh; Povolotskaya, Inna S.; Voinova, Victoria Y.; Gowda, Vykuntaraju K.; Srinivasan, Varunvenkat M.; Alkuraya, Fowzan S.; Mefford, Heather C.; Alfadhel, Majid; Haack, Tobias B.; Striano, Pasquale; Severino, Mariasavina; Fukata, Masaki; Hilhorst-Hofstee, Yvonne; Houlden, Henry (2022)
  • 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)
  • Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss
    Trpchevska, Natalia; Freidin, Maxim B.; Broer, Linda; Oosterloo, Berthe C.; Yao, Shuyang; Zhou, Yitian; Vona, Barbara; Bishop, Charles; Bizaki-Vallaskangas, Argyro; Canlon, Barbara; Castellana, Fabio; Chasman, Daniel I.; Cherny, Stacey; Christensen, Kaare; Concas, Maria Pina; Correa, Adolfo; Elkon, Ran; Mengel-From, Jonas; Gao, Yan; Giersch, Anne B. S.; Girotto, Giorgia; Gudjonsson, Alexander; Gudnason, Vilmundur; Heard-Costa, Nancy L.; Hertzano, Ronna; v.B. Hjelmborg, Jacob; Hjerling-Leffler, Jens; Hoffman, Howard J.; Kaprio, Jaakko; Kettunen, Johannes; Krebs, Kristi; Kahler, Anna K.; Lallemend, Francois; Launer, Lenore J.; Lee, I-Min; Leonard, Hampton; Li, Chuan-Ming; Lowenheim, Hubert; Magnusson, Patrik K. E.; van Meurs, Joyce; Milani, Lili; Morton, Cynthia C.; Makitie, Antti; Nalls, Mike A.; Nardone, Giuseppe Giovanni; Nygaard, Marianne; Palviainen, Teemu; Pratt, Sheila; Quaranta, Nicola; Ramo, Joel; Saarentaus, Elmo; Sardone, Rodolfo; Satizabal, Claudia L.; Schweinfurth, John M.; Seshadri, Sudha; Shiroma, Eric; Shulman, Eldad; Simonsick, Eleanor; Spankovich, Christopher; Tropitzsch, Anke; Lauschke, Volker M.; Sullivan, Patrick F.; Goedegebure, Andre; Cederroth, Christopher R.; Williams, Frances M. K.; Nagtegaal, Andries Paul (2022)
  • Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
    Rad, Aboulfazl; Najafi, Maryam; Suri, Fatemeh; Abedini, Soheila; Loum, Stephen; Karimiani, Ehsan Ghayoor; Daftarian, Narsis; Murphy, David; Doosti, Mohammad; Moghaddasi, Afrooz; Ahmadieh, Hamid; Sabbaghi, Hamideh; Rajati, Mohsen; Hashemi, Narges; Vona, Barbara; Schmidts, Miriam (2022)
  • 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)