A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

Dissecting the pre-placodal transcriptome to reveal presumptive direct targets of Six1 and Eya1 in cranial placodes

(2016) Nick Riddiford et al.   eLife

Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders

(2015) Sally A. Moody et al.   COMPARATIVE BIOCHEMISTRY AND PHYSIOLOGY C-TOXICOLOGY & PHARMACOLOGY

EYA1-related disorders: Two clinical cases and a literature review

(2014) Alessandro Castiglione et al.   INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Branchio-oto-renal syndrome: Comprehensive review based on nationwide surveillance in Japan

(2014) Naoya Morisada et al.   PEDIATRICS INTERNATIONAL

Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

(2013) Mee Hyun Song et al.   PLoS One

Mutation screening of the EYA1, SIX1, and SIX5 genes in an east asian cohort with branchio-oto-renal syndrome

(2012) Shih-Hao Wang et al.   LARYNGOSCOPE

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

(2010) Pauline Krug et al.   HUMAN MUTATION

Branchio-oto-renal syndrome (BOR): novel mutations in theEYA1gene, and a review of the mutational genetics of BOR

(2008) Dana J. Orten et al.   HUMAN MUTATION