A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family

by Julia Doll, Michaela A. H. Hofrichter, Paulina Bahena, Alfred Heihoff, Dennis Segebarth, Tobias Müller, Marcus Dittrich, Thomas Haaf, Barbara Vona
Published 2020-08-01

The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

by 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
Published 2018-05-01

Novel Loss-of-Function Variants in <i>CDC14A</i> are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

by 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
Published 2020-01-01

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families

by 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 Kühlewein, 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
Published 2020-11-01