1. Genetic basis of hearing loss in Spanish, Hispanic and Latino populations
   Rahul Mittal et al, 2018, Gene CrossRef
2. Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
   Marina T. DiStefano et al, 2018, The Journal of Molecular Diagnostics CrossRef
3. Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2
   Jie Sun et al, 2017, J Hum Genet CrossRef
4. Whole genome genotyping mapped regions on chromosome 2 and 18 in a family segregating Waardenburg syndrome type II
   Maan Abdullah Albarry et al, 2019, Saudi Journal of Ophthalmology CrossRef
5. The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families
   Qin Liu et al, 2019, International Journal of Pediatric Otorhinolaryngology CrossRef
6. 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
7. 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, Mol Genet Genomic Med CrossRef
8. 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 Pediatr CrossRef
9. 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
10. Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation
    Safoura Zardadi et al, 2021, BMC Med Genomics CrossRef
11. Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report
    Li Zhang et al, 2022, J Med Case Reports CrossRef
12. Waardenburg Syndrome and hirschsprung Disease in a child: A case report
    Rajesh Prasad Sah et al, 2024, Journal of Pediatric Surgery Case Reports CrossRef