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Owrang, Daniel and Rad, Aboulfazl and Alerasool, Masoome and M. Kolb, Susanne and Lin, Sheng-Jia and Doll, Julia and Alidadiani, Neda and Ghaderi, Shahrooz and Hofrichter, Michaela A. H. and Maroofian, Reza and Varshney, Gaurav K. and Mojarrad, Majid and Bartsch, Oliver and Haaf, Thomas and Vona, Barbara (2025) Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic Window. Molecular Neurobiology.
Kaiyrzhanov, Rauan and Rad, Aboulfazl and Lin, Sheng-Jia and Bertoli-Avella, Aida and W Kallemeijn, Wouter and Godwin, Annie (2024) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain.
Koparir, Asuman and Lekszas, Caroline and Keseroglu, Kemal and Rose, Thalia and Rappl, Lena and Rad, Aboulfazl and Maroofian, Reza and Narendran, Nakul and Hasanzadeh, Atefeh and Ghayoor Karimiani, Ehsan and Boschann, Felix and Kornak, Uwe and Klopocki, Eva and Vona, Barbara and Haaf, Thomas and Liedtke, Daniel (2024) Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome. Human Genomics.
Najafi, Maryam and Riedhammer, Korbinian Maria and Rad, Aboulfazl and Najarzadeh Torbati, Paria and Berutti, Riccardo and Schüle, Isabel and Schroda, Sophie and Meitinger, Thomas and Ćomić, Jasmina and Sadeghi-Bojd, Simin and Baranzehi, Tayebeh and Shojaei, Azadeh and Azarfar, Anoush and Khazaei, Mahmood Reza and Köttgen, Anna and Backofen, Rolf and Ghayoor Karimiani, Ehsan and Hoefele, Julia and Schmidts, Miriam (2022) High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases. Frontiers in Pediatrics.
