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

Lin, Sheng-Jia; Vona, Barbara; Porter, Hillary M.; Izadi, Mahmoud; Huang, Kevin; Lacassie, Yves; Rosenfeld, Jill A.; Khan, Saadullah; Petree, Cassidy; Ali, Tayyiba A., et al.

ArticleIssue Date2022CitationHuman Mutation, v.43, no.10, pp 1472 - 1489PublisherJohn Wiley & Sons Inc.
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Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Familiesopen access

Doll, Julia; Vona, Barbara; Schnapp, Linda; Rueschendorf, Franz; Khan, Imran; Khan, Saadullah; Muhammad, Noor; Alam Khan, Sher; Nawaz, Hamed; Khan, Ajmal, et al.

ArticleIssue Date2020CitationGENES, v.11, no.11, pp 1 - 16PublisherMDPI
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Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patientsopen access

Doll, Julia; Kolb, Susanne; Schnapp, Linda; Rad, Aboulfazl; Ruschendorf, Franz; Khan, Imran; Adli, Abolfazl; Hasanzadeh, Atefeh; Liedtke, Daniel; Knaup, Sabine, et al.

ArticleIssue Date2020CitationINTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, v.21, no.1PublisherMDPI
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