Tim Hutchin
Birmingham Children's Hospital(GB)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Connexins and lens biology, Neuroscience of respiration and sleep
Most-Cited Works
- → A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment(2005)338 cited
- → Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study(2003)289 cited
- → A Molecular basis for human hypersensitivity of aminoglyscoside antibiotics(1993)236 cited
- → Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus(2001)191 cited
- → A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.(1995)186 cited
- → Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice(2015)148 cited
- → Proposed molecular and cellular mechanism for aminoglycoside ototoxicity(1994)124 cited
- → A novel mutation in the mitochondrial tRNASer(UCN) gene in a family with non-syndromic sensorineural hearing impairment(2000)120 cited
- → Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing(2005)114 cited
- → The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT(2016)98 cited