Associated Papers
Using Xenopus to discover new candidate genes involved in BOR and other congenital hearing loss syndromes.
Neal SJ et al.
Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution, 2024
Impaired neutrophil-mediated cell death drives Ewing's Sarcoma in the background of Down syndrome.
Peirone S et al.
Frontiers in Oncology, 2024
39421445 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
Otological manifestations in branchiootorenal spectrum disorder: A systematic review and meta-analysis.
Chen A et al.
Clinical Genetics, 2021
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Hwang DY et al.
Kidney International, 2014
24429398 (PubMed )
Supplement: NIHMS543078-supplement-supplement_1.pdf
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome.
Wang SH et al.
The Laryngoscope, 2012
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations.
Krug P et al.
Human Mutation, 2011
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.
Hoskins BE et al.
American Journal of Human Genetics, 2007
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