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Genes|December 1, 2020
The Many Faces of DFNB9: Relating OTOF Variants to Hearing ImpairmentBarbara Vona, Aboulfazl Rad, Ellen Reisinger
Frontiers in Genetics|September 6, 2023
Unraveling haplotype errors in the DFNA33 locusBarbara Vona, Sabrina Regele, Aboulfazl Rad, et al.
Human Mutation|November 10, 2020
Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locusAboulfazl Rad, Thore Schade-Mann, Philipp Gamerdinger, et al.
Clinical Genetics|June 10, 2024
Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literatureAboulfazl Rad, Oliver Bartsch, Somayeh Bakhtiari, et al.
QJM : Monthly Journal of the Association of Physicians|October 15, 2025
Uncovering Dual Molecular Diagnoses in Families with Complex Phenotypes through Structural and Clinical Study of Novel COL4A6 VariantsDaniel Owrang, Aboulfazl Rad, Constantin Cretu, et al.
European Journal of Human Genetics : EJHG|December 12, 2024
Bi-allelic MYMX variants cause a syndromic congenital myopathy with recognizable facial palsy, growth restriction, and dysmorphismFatima Rahman, Luisa Marsili, Domizia Pasquetti, et al.
Orphanet Journal of Rare Diseases|March 4, 2022
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndromeAboulfazl Rad, Maryam Najafi, Fatemeh Suri, et al.
Molecular Neurobiology|January 9, 2026
Expansion of Molecular and Clinical Aspects of EPS8L2 (DFNB106)-Associated Hearing Loss Emphasizes a Potential Therapeutic WindowDaniel Owrang, Aboulfazl Rad, Masoome Alerasool, et al.
Human Genomics|March 6, 2024
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndromeAsuman Koparir, Caroline Lekszas, Kemal Keseroglu, et al.
International Journal of Molecular Sciences|January 8, 2020
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani PatientsJulia Doll, Susanne Kolb, Linda Schnapp, et al.
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