Franz Rüschendorf
10PUBLICATIONS
109CO-AUTHORS
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Publications (10)
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|Apr 14, 2025
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).Seda Susgun, Afif Ben-Mahmoud, Franz Rüschendorf
|Jul 11, 2022
Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.Sheng-Jia Lin, Barbara Vona, Hillary M Porter
|Nov 17, 2021
Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.Sarah Grosche, Ingo Marenholz, Jorge Esparza-Gordillo
|Jan 26, 2021
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans.Barbara Vona, Neda Mazaheri, Sheng-Jia Lin
|Nov 14, 2020
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.Julia Doll, Barbara Vona, Linda Schnapp
|Jan 08, 2020
Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients.Julia Doll, Susanne Kolb, Linda Schnapp
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Frequent Collaborators
4 joint publications
Barbara Vona
3 joint publications
Klaus Bønnelykke
3 joint publications
Carol A Wang
3 joint publications
Tarunveer S Ahluwalia
2 joint publications
Supinda Bunyavanich
2 joint publications
Andre Franke
2 joint publications
Andre F S Amaral
2 joint publications
Markus J Ege
2 joint publications
Leon E Jessen
2 joint publications
Jonathan Thorsen
