Research & Literature

Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome.

Ginat DT, Ferro L, Gluth MB

Clinical neuroradiology 2016; (26(4)):481-483 doi:10.1007/s00062-016-0502-7.

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome.

Spahiu L, Merovci B, Ismaili Jaha V, et al.

Balkan journal of medical genetics : BJMG 2016; (19(2)):91-94 doi:10.1515/bjmg-2016-0042.

Novel EYA1 variants causing Branchio-oto-renal syndrome.

Klingbeil KD, Greenland CM, Arslan S, et al.

International journal of pediatric otorhinolaryngology 2017; (98()):59-63 doi:10.1016/j.ijporl.2017.04.037.

Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.

Gettelfinger JD, Dahl JP

Journal of pediatric genetics 2018; (7(1)):1-8 doi:10.1055/s-0037-1617454.

Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Unzaki A, Morisada N, Nozu K, et al.

Journal of human genetics 2018; (63(5)):647-656 doi:10.1038/s10038-018-0429-8.

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome.

Li G, Shen Q, Sun L, et al.

Intractable & rare diseases research 2018; (7(1)):42-45 doi:10.5582/irdr.2017.01075.

Transmastoid access in branchio-oto-renal syndrome: A reappraisal of computed tomography imaging.

Parkes WJ, Cushing SL, Blaser SI, Papsin BC

International journal of pediatric otorhinolaryngology 2018; (114()):92-96 doi:10.1016/j.ijporl.2018.08.030.

[Emphasizing the application of genetic diagnosis in branchio-oto-renal syndrome].

Wen YY, Sun Y, Kong WJ

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2018; (32(16)):1226-1231 doi:10.13201/j.issn.1001-1781.2018.16.005.

The Unwound Cochlea: A Specific Imaging Marker of Branchio-Oto-Renal Syndrome.

Hsu A, Desai N, Paldino MJ

AJNR. American journal of neuroradiology 2018; (39(12)):2345-2349 doi:10.3174/ajnr.A5856.

Identification of a Novel CNV at 8q13 in a Family With Branchio-Oto-Renal Syndrome and Epilepsy.

Men M, Li W, Chen H, et al.

The Laryngoscope 2020; (130(2)):526-532 doi:10.1002/lary.27941.

Multimodality depiction of findings in branchio-oto-renal syndrome: two case reports.

Williams LE, Sohner MT, Sibley RC, Pfeifer CM

Acta radiologica open 2019; (8(7)):2058460119861606 doi:10.1177/2058460119861606.

[Prenatal diagnosis of a case with Branchi-oto-renal syndrome].

Mi X, Yang S, Shen X

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(12)):1210-1212 doi:10.3760/cma.j.issn.1003-9406.2019.12.015.

Mcrs1 interacts with Six1 to influence early craniofacial and otic development.

Neilson KM, Keer S, Bousquet N, et al.

Developmental biology 2020; (467(1-2)):39-50 doi:10.1016/j.ydbio.2020.08.013.

Identification and Characterization of a Cryptic Genomic Deletion-Insertion in EYA1 Associated with Branchio-Otic Syndrome.

Zheng H, Xu J, Wang Y, et al.

Neural plasticity 2021; (2021()):5524381 doi:10.1155/2021/5524381.

[Novel duplication mutation of EYA1 causes branchio-oto-renal syndrome in a Chinese family].

Li J, Zhao P, Xia Z, et al.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2021; (35(7)):607-612 doi:10.13201/j.issn.2096-7993.2021.07.007.

Sobp modulates the transcriptional activation of Six1 target genes and is required during craniofacial development.

Tavares ALP, Jourdeuil K, Neilson KM, et al.

Development (Cambridge, England) 2021; (148(17)) doi:10.1242/dev.199684.

A Perihilar Variant of Focal Segmental Glomerulosclerosis Due to De novo Branchio-oto-renal Syndrome.

Saiki R, Katayama K, Kitano M, et al.

Internal medicine (Tokyo, Japan) 2022; (61(13)):2033-2038 doi:10.2169/internalmedicine.8508-21.

Genetic and Phenotypic Variability in Chinese Patients With Branchio-Oto-Renal or Branchio-Oto Syndrome.

Feng H, Xu H, Chen B, et al.

Frontiers in genetics 2021; (12()):765433 doi:10.3389/fgene.2021.765433.

X-linked deafness/incomplete partition type 3: Radiological evaluation of temporal bone and intracranial findings.

Parlak S, Gumeler E, Sennaroglu L, Ozgen B

Diagnostic and interventional radiology (Ankara, Turkey) 2022; (28(1)):50-57 doi:10.5152/dir.2021.20791.

Re-Examining the Cochlea in Branchio-Oto-Renal Syndrome: Genotype-Phenotype Correlation.

Pao J, D'Arco F, Clement E, et al.

AJNR. American journal of neuroradiology 2022; (43(2)):309-314 doi:10.3174/ajnr.A7396.

Genetic research progress in branchio-oto syndrome/ branchio-oto-renal syndrome.

Chen A, Ling J, Feng Y

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2022; (47(1)):129-138 doi:10.11817/j.issn.1672-7347.2022.210251.

The Cochlea in Branchio-Oto-Renal Syndrome: An Objective Method for the Diagnosis of Offset Cochlear Turns.

Juliano AF, D'Arco F, Pao J, et al.

AJNR. American journal of neuroradiology 2022; (43(11)):1646-1652 doi:10.3174/ajnr.A7653.

From clinical to molecular diagnosis: relevance of diagnostic strategy in two cases of branchio-oto-renal syndrome - case report.

Cacciatori E, Aleo S, Scuvera G, et al.

Italian journal of pediatrics 2022; (48(1)):177 doi:10.1186/s13052-022-01369-5.

An infant with congenital heart defects and proteinuria: a case report.

Liu D, Wang Y

BMC pediatrics 2022; (22(1)):636 doi:10.1186/s12887-022-03705-4.

[Branchio-oto-renal syndrome or branchio-oto syndrome: the clinical and genetic analysis in five Chinese families].

Feng HF, Xu GE, Chen B, et al.

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2022; (57(12)):1433-1441 doi:10.3760/cma.j.cn115330-20221119-00694.

Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea.

Lee S, Yun Y, Cha JH, et al.

Scientific reports 2023; (13(1)):11776 doi:10.1038/s41598-023-38909-w.

Misdiagnosed Branchio-Oto-Renal syndrome presenting as proteinuria and renal insufficiency with insidious signs since early childhood: a report of three cases.

Lin Z, Li J, Pei Y, et al.

BMC nephrology 2023; (24(1)):248 doi:10.1186/s12882-023-03193-3.

Age-related outcomes after pediatric branchial cleft cyst excision via NSQIP-P.

Raghavan M, Carr MM

International journal of pediatric otorhinolaryngology 2024; (176()):111811 doi:10.1016/j.ijporl.2023.111811.

Identification and Functional Study of Enhancers of EYA1: The Causative Gene of Branchio-Oto-Renal Syndrome.

Wang F, Zhang R, Jian J, et al.

Developmental neuroscience 2024; (46(5)):333-340 doi:10.1159/000536260.

[Clinical features and temporal CT findings in patients with Branchio-Oto-Renal or Branchio-Oto Syndrome].

Yang H, Feng HF, Lu W

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2024; (59(4)):366-372 doi:10.3760/cma.j.cn115330-20231019-00160.

Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms.

Zhang H, Gao J, Wang H, et al.

BMC medical genomics 2024; (17(1)):89 doi:10.1186/s12920-024-01858-y.

A Novel Classification System and Surgical Strategies of First Branchial Cleft Anomalies.

Kong D, Li W, Zhou P, et al.

The Laryngoscope 2024; (134(10)):4246-4251 doi:10.1002/lary.31477.

Genomic Landscape of Branchio-Oto-Renal Syndrome through Whole-Genome Sequencing: A Single Rare Disease Center Experience in South Korea.

Cho SH, Jeong SH, Choi WH, Lee SY

International journal of molecular sciences 2024; (25(15)) doi:10.3390/ijms25158149.

Analysis of Clinical Diagnosis and Treatment Modes for Congenital Branchial Cleft Anomalies.

Cai JS, Wang YE, Wu YQ, et al.

The Journal of craniofacial surgery 2025; (36(1)):273-278 doi:10.1097/SCS.0000000000010667.

Branchio-oto-renal syndrome in a young Han Chinese female: a case report and review of the literature.

Yi J, Wei Y, Fu S, et al.

Journal of medical case reports 2025; (19(1)):430 doi:10.1186/s13256-025-05515-5.

Case report of a novel GREB1L gene mutation in a patient with branchio-oto-renal syndrome.

Chen S, Yang Z, Wang M, Zhong C

Journal of otology 2025; (20(2)):67-71 doi:10.26599/JOTO.2025.9540011.

Impact of preoperative infection severity on surgical outcomes in branchial cleft anomalies: A retrospectie cohort study.

Chen J, Xu H, Xu B, et al.

International journal of pediatric otorhinolaryngology 2026; (200()):112684 doi:10.1016/j.ijporl.2025.112684.

Hearing characteristics of Branchio-oto-renal syndrome in Japan.

Goto SI, Sasaki A, Nishio SY, et al.

Acta oto-laryngologica 2026; 1-10 doi:10.1080/00016489.2026.2635665.

Recurrent abdominal pain as a leading symptom for branchio-oto-renal syndrome: a case report.

Senjab A, Al Ayoubi O, Tannous G, Alsharef Y

Journal of medical case reports 2026; (20(1)).