Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients حسب Julia Doll (5237840)

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Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families حسب Julia Doll (5237840)

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Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function حسب Sheng‐Jia Lin (18877600)

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Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism حسب Hyung-Goo Kim (728597)

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