Works by Vona, Barbara

Results: 52
    1

    Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1472, doi. 10.1002/humu.24435
    By:
    • Lin, Sheng‐Jia;
    • Vona, Barbara;
    • Porter, Hillary M.;
    • Izadi, Mahmoud;
    • Huang, Kevin;
    • Lacassie, Yves;
    • Rosenfeld, Jill A.;
    • Khan, Saadullah;
    • Petree, Cassidy;
    • Ali, Tayyiba A.;
    • Muhammad, Nazif;
    • Khan, Sher A.;
    • Muhammad, Noor;
    • Liu, Pengfei;
    • Haymon, Marie‐Louise;
    • Rüschendorf, Franz;
    • Kong, Il‐Keun;
    • Schnapp, Linda;
    • Shur, Natasha;
    • Chorich, Lynn
    Publication type:
    Article
    2

    Front Cover, Volume 43, Issue 10.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. i, doi. 10.1002/humu.24464
    By:
    • Lin, Sheng‐Jia;
    • Vona, Barbara;
    • Porter, Hillary M.;
    • Izadi, Mahmoud;
    • Huang, Kevin;
    • Lacassie, Yves;
    • Rosenfeld, Jill A.;
    • Khan, Saadullah;
    • Petree, Cassidy;
    • Ali, Tayyiba A.;
    • Muhammad, Nazif;
    • Khan, Sher A.;
    • Muhammad, Noor;
    • Liu, Pengfei;
    • Haymon, Marie‐Louise;
    • Rüschendorf, Franz;
    • Kong, Il‐Keun;
    • Schnapp, Linda;
    • Shur, Natasha;
    • Chorich, Lynn
    Publication type:
    Article
    3

    WARS1 and SARS1: Two tRNA synthetases implicated in autosomal recessive microcephaly.

    Published in:
    Human Mutation, 2022, v. 43, n. 10, p. 1454, doi. 10.1002/humu.24430
    By:
    • Bögershausen, Nina;
    • Krawczyk, Hannah E.;
    • Jamra, Rami A.;
    • Lin, Sheng‐Jia;
    • Yigit, Gökhan;
    • Hüning, Irina;
    • Polo, Anna M.;
    • Vona, Barbara;
    • Huang, Kevin;
    • Schmidt, Julia;
    • Altmüller, Janine;
    • Luppe, Johannes;
    • Platzer, Konrad;
    • Dörgeloh, Beate B.;
    • Busche, Andreas;
    • Biskup, Saskia;
    • Mendes, Marisa I.;
    • Smith, Desiree E. C.;
    • Salomons, Gajja S.;
    • Zibat, Arne
    Publication type:
    Article
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    Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

    Published in:
    Genes, 2020, v. 11, n. 11, p. 1329, doi. 10.3390/genes11111329
    By:
    • Doll, Julia;
    • Vona, Barbara;
    • Schnapp, Linda;
    • Rüschendorf, Franz;
    • Khan, Imran;
    • Khan, Saadullah;
    • Muhammad, Noor;
    • Alam Khan, Sher;
    • Nawaz, Hamed;
    • Khan, Ajmal;
    • Ahmad, Naseer;
    • Kolb, Susanne M.;
    • Kühlewein, Laura;
    • Labonne, Jonathan D. J.;
    • Layman, Lawrence C.;
    • Hofrichter, Michaela A. H.;
    • Röder, Tabea;
    • Dittrich, Marcus;
    • Müller, Tobias;
    • Graves, Tyler D.
    Publication type:
    Article
    10
    11

    Hereditary auditory disorders.

    Published in:
    Medizinische Genetik, 2020, p. 107, doi. 10.1515/medgen-2020-2017
    By:
    • Vona, Barbara;
    • Haaf, Thomas
    Publication type:
    Article
    12
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    Unraveling haplotype errors in the DFNA33 locus.

    Published in:
    Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1214736
    By:
    • Vona, Barbara;
    • Regele, Sabrina;
    • Rad, Aboulfazl;
    • Strenzke, Nicola;
    • Pater, Justin A.;
    • Neumann, Katrin;
    • Sturm, Marc;
    • Haack, Tobias B.;
    • Zehnhoff-Dinnesen, Antoinette G. Am
    Publication type:
    Article
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    Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 11, p. 1919, doi. 10.1093/hmg/ddz032
    By:
    • Hedberg-Oldfors, Carola;
    • Abramsson, Alexandra;
    • Osborn, Daniel P S;
    • Danielsson, Olof;
    • Fazlinezhad, Afsoon;
    • Nilipour, Yalda;
    • Hübbert, Laila;
    • Nennesmo, Inger;
    • Visuttijai, Kittichate;
    • Bharj, Jaipreet;
    • Petropoulou, Evmorfia;
    • Shoreim, Azza;
    • Vona, Barbara;
    • Ahangari, Najmeh;
    • López, Marcela Dávila;
    • Doosti, Mohammad;
    • Banote, Rakesh Kumar;
    • Maroofian, Reza;
    • Edling, Malin;
    • Taherpour, Mehdi
    Publication type:
    Article
    17

    Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis.

    Published in:
    Clinical Genetics, 2024, v. 106, n. 6, p. 693, doi. 10.1111/cge.14599
    By:
    • Alerasool, Masoome;
    • Eslahi, Atieh;
    • Vona, Barbara;
    • Kahaei, Mir Salar;
    • Mojaver, Nasrin Kaseb;
    • Rajati, Mohsen;
    • Pasdar, Alireza;
    • Ghasemi, Mohammad Mehdi;
    • Saburi, Ehsan;
    • Ardehaie, Reza Mousavi;
    • Aval, Majid Hadadi;
    • Tale, Mohammad Reza;
    • Nourizadeh, Navid;
    • Afzalzadeh, Mohammad Reza;
    • Niknezhad, Hamid Tayarani;
    • Mojarrad, Majid
    Publication type:
    Article
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    Novel loss-of-function variants expand ABCC9-related intellectual disability and myopathy syndrome.

    Published in:
    Brain: A Journal of Neurology, 2024, v. 147, n. 5, p. 1822, doi. 10.1093/brain/awae010
    By:
    • Efthymiou, Stephanie;
    • Scala, Marcello;
    • Nagaraj, Vini;
    • Ochenkowska, Katarzyna;
    • Komdeur, Fenne L;
    • Liang, Robin A;
    • Abdel-Hamid, Mohamed S;
    • Sultan, Tipu;
    • Barøy, Tuva;
    • Ghelue, Marijke Van;
    • Vona, Barbara;
    • Maroofian, Reza;
    • Zafar, Faisal;
    • Alkuraya, Fowzan S;
    • Zaki, Maha S;
    • Severino, Mariasavina;
    • Duru, Kingsley C;
    • Tryon, Robert C;
    • Brauteset, Lin Vigdis;
    • Ansari, Morad
    Publication type:
    Article
    23

    Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome.

    Published in:
    Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00593-w
    By:
    • Koparir, Asuman;
    • Lekszas, Caroline;
    • Keseroglu, Kemal;
    • Rose, Thalia;
    • Rappl, Lena;
    • Rad, Aboulfazl;
    • Maroofian, Reza;
    • Narendran, Nakul;
    • Hasanzadeh, Atefeh;
    • Karimiani, Ehsan Ghayoor;
    • Boschann, Felix;
    • Kornak, Uwe;
    • Klopocki, Eva;
    • Özbudak, Ertuğrul M.;
    • Vona, Barbara;
    • Haaf, Thomas;
    • Liedtke, Daniel
    Publication type:
    Article
    24
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    Ca<sup>2+</sup> binding to the C<sub>2</sub>E domain of otoferlin is required for hair cell exocytosis and hearing.

    Published in:
    Protein & Cell, 2024, v. 15, n. 4, p. 305, doi. 10.1093/procel/pwad058
    By:
    • Chen, Han;
    • Monga, Mehar;
    • Fang, Qinghua;
    • Slitin, Loujin;
    • Neef, Jakob;
    • Chepurwar, Shashank S;
    • Netto, Regina Célia Mingroni;
    • Lezirovitz, Karina;
    • Tabith, Alfredo;
    • Benseler, Fritz;
    • Brose, Nils;
    • Kusch, Kathrin;
    • Wichmann, Carolin;
    • Strenzke, Nicola;
    • Vona, Barbara;
    • Preobraschenski, Julia;
    • Moser, Tobias
    Publication type:
    Article
    26

    Revisiting multiple erroneous genetic testing results and clinical misinterpretations in a patient with Li-Fraumeni syndrome: lessons for translational medicine.

    Published in:
    Hereditary Cancer in Clinical Practice, 2021, v. 19, n. 1, p. 1, doi. 10.1186/s13053-020-00157-8
    By:
    • Sokolova, Tatiana N.;
    • Breder, Valeriy V.;
    • Shumskaya, Irina S.;
    • Suspitsin, Evgeny N.;
    • Aleksakhina, Svetlana N.;
    • Yanus, Grigoriy A.;
    • Tiurin, Vladislav I.;
    • Ivantsov, Alexandr O.;
    • Vona, Barbara;
    • Raskin, Grigoriy A.;
    • Gamajunov, Sergey V.;
    • Imyanitov, Evgeny N.
    Publication type:
    Article
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    The First Inherited Retinal Disease Registry in Iran: Research Protocol and Results of a Pilot Study.

    Published in:
    Archives of Iranian Medicine (AIM), 2020, v. 23, n. 7, p. 445, doi. 10.34172/aim.2020.41
    By:
    • Sabbaghi, Hamideh;
    • Daftarian, Narsis;
    • Suri, Fatemeh;
    • Mirrahimi, Mehraban;
    • Madani, Sina;
    • Sheikhtaheri, Abbas;
    • Khorrami, Farid;
    • Saviz, Proshat;
    • Nejad, Mohammad Zarei;
    • Tivay, Ali;
    • Shahriari, Hossein Ali;
    • Maleki, Alireza;
    • Ahmadi, Seyed Sajad;
    • Sargazi, Monireh;
    • Cremers, Frans P. M.;
    • Najafi, Maryam;
    • Vona, Barbara;
    • Haaf, Thomas;
    • Bahena-Carbajal, Paulina;
    • Moghadasi, Afrooz
    Publication type:
    Article
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    Gene therapy for deafness: are we there now?

    Published in:
    EMBO Molecular Medicine, 2024, v. 16, n. 4, p. 675, doi. 10.1038/s44321-024-00058-6
    By:
    • Moser, Tobias;
    • Chen, Han;
    • Kusch, Kathrin;
    • Behr, Rüdiger;
    • Vona, Barbara
    Publication type:
    Article
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    Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.

    Published in:
    Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01258-4
    By:
    • 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
    Publication type:
    Article
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    Expanding the clinical phenotype of IARS2-related mitochondrial disease.

    Published in:
    BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0709-3
    By:
    • 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
    Publication type:
    Article
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    Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.

    Published in:
    International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 311, doi. 10.3390/ijms21010311
    By:
    • Doll, Julia;
    • Kolb, Susanne;
    • Schnapp, Linda;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Khan, Imran;
    • Adli, Abolfazl;
    • Hasanzadeh, Atefeh;
    • Liedtke, Daniel;
    • Knaup, Sabine;
    • Hofrichter, Michaela AH;
    • Müller, Tobias;
    • Dittrich, Marcus;
    • Kong, Il-Keun;
    • Kim, Hyung-Goo;
    • Haaf, Thomas;
    • Vona, Barbara
    Publication type:
    Article
    45
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    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
    47

    Radixin modulates the function of outer hair cell stereocilia.

    Published in:
    Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-01506-y
    By:
    • Prasad, Sonal;
    • Vona, Barbara;
    • Diñeiro, Marta;
    • Costales, María;
    • González-Aguado, Rocío;
    • Fontalba, Ana;
    • Diego-Pérez, Clara;
    • Subasioglu, Asli;
    • Bademci, Guney;
    • Tekin, Mustafa;
    • Cabanillas, Rubén;
    • Cadiñanos, Juan;
    • Fridberger, Anders
    Publication type:
    Article
    48
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    Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

    Published in:
    Human Genetics, 2022, v. 141, n. 3/4, p. 431, doi. 10.1007/s00439-022-02444-x
    By:
    • Pater, Justin A.;
    • Penney, Cindy;
    • O'Rielly, Darren D.;
    • Griffin, Anne;
    • Kamal, Lara;
    • Brownstein, Zippora;
    • Vona, Barbara;
    • Vinkler, Chana;
    • Shohat, Mordechai;
    • Barel, Ortal;
    • French, Curtis R.;
    • Singh, Sushma;
    • Werdyani, Salem;
    • Burt, Taylor;
    • Abdelfatah, Nelly;
    • Houston, Jim;
    • Doucette, Lance P.;
    • Squires, Jessica;
    • Glaser, Fabian;
    • Roslin, Nicole M.
    Publication type:
    Article
    50

    A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 915, doi. 10.1007/s00439-020-02254-z
    By:
    • Vona, Barbara;
    • Mazaheri, Neda;
    • Lin, Sheng-Jia;
    • Dunbar, Lucy A.;
    • Maroofian, Reza;
    • Azaiez, Hela;
    • Booth, Kevin T.;
    • Vitry, Sandrine;
    • Rad, Aboulfazl;
    • Rüschendorf, Franz;
    • Varshney, Pratishtha;
    • Fowler, Ben;
    • Beetz, Christian;
    • Alagramam, Kumar N.;
    • Murphy, David;
    • Shariati, Gholamreza;
    • Sedaghat, Alireza;
    • Houlden, Henry;
    • Petree, Cassidy;
    • VijayKumar, Shruthi
    Publication type:
    Article