A. Jackson

发表

An autosomal recessive exfoliative ichthyosis with linkage to chromosome 12q13

D. Kelsell, A. Zvulunov, H. Stevens, 2003, The British journal of dermatology.

Mental retardation, keratoconus, febrile seizures and sinoatrial block: a previously undescribed autosomal recessive disorder

Y. Crow, G. Karbani, D. Kirby, 2005, Clinical genetics.

A second locus for Aicardi-Goutières syndrome at chromosome 13q14–21

L. Lagae, H. Brunner, Y. Crow, 2005, Journal of Medical Genetics.

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism

C. Woods, Y. Crow, J. Bond, 2003, Journal of medical genetics.

Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

C. Woods, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

A third novel locus for primary autosomal recessive microcephaly maps to chromosome 9q34.

C. Woods, G. Turner, G. Karbani, 2000, American journal of human genetics.

A fifth locus for primary autosomal recessive microcephaly maps to chromosome 1q31.

C. Woods, Y. Crow, C. Woods, 2000, American journal of human genetics.

The continuing failure to recognise Alström syndrome and further evidence of genetic homogeneity

C. Woods, G. Karbani, N. Lench, 2000, Journal of medical genetics.

A novel mutation in a family with non-syndromic sensorineural hearing loss that disrupts the newly characterisedOTOF long isoforms

L. Al-Gazali, R. Mueller, M. Houseman, 2001, Journal of medical genetics.

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23–q31

L. Al-Gazali, N. Lench, N. Lench, 2000, European Journal of Human Genetics.