1. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
   Marina T. DiStefano et al, 2018, The Journal of Molecular Diagnostics CrossRef
2. Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
   Li Zhang et al, 2022, Journal of Medical Case Reports CrossRef
3. Genetic basis of hearing loss in Spanish, Hispanic and Latino populations
   Rahul Mittal et al, 2018, Gene CrossRef
4. Expression and contribution of microphthalmia-associated transcription factor to the melanin deposition in Liancheng white ducks
   Qing-wu XIN et al, 2020, Journal of Integrative Agriculture CrossRef
5. A follow‐up study of a Chinese family with Waardenburg syndrome type II caused by a truncating mutation of MITF gene
   Shuzhi Yang et al, 2020, Molecular Genetics & Genomic Medicine CrossRef
6. Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
   Jie Sun et al, 2017, Journal of Human Genetics CrossRef
7. Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
   Safoura Zardadi et al, 2021, BMC Medical Genomics CrossRef
8. The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families
   Qin Liu et al, 2020, International Journal of Pediatric Otorhinolaryngology CrossRef
9. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report
   Safoura Zardadi et al, 2021, BMC Pediatrics CrossRef
10. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
    Maan Abdullah Albarry et al, 2021, PLOS ONE CrossRef
11. Waardenburg Syndrome and hirschsprung Disease in a child: A case report
    Rajesh Prasad Sah et al, 2024, Journal of Pediatric Surgery Case Reports CrossRef