S. Rickard

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS (Am J Med Genet 125A: 167–172)

B. D. de Vries, M. Pembrey, R. Winter, 2005, American journal of medical genetics. Part A.

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS

B. D. de Vries, M. Pembrey, R. Winter, 2004 .

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

M. Bitner-Glindzicz, R. Winter, M. Parker, 2001, Human Genetics.

Analysis of GNAS1 and overlapping transcripts identifies the parental origin of mutations in patients with sporadic Albright hereditary osteodystrophy and reveals a model system in which to observe the effects of splicing mutations on translated and untranslated messenger RNA.

L. Wilson, S. Rickard, 2003, American journal of human genetics.

Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

A. Poustka, A. Winterpacht, S. Saitoh, 1996, Nature Genetics.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

A. Pagnamenta, M. Bitner-Glindzicz, W. Reardon, 2001, Journal of medical genetics.

Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

C. Wijmenga, M. Bitner-Glindzicz, D. Kelsell, 2001, Journal of medical genetics.

Mutation analysis of the methyl-CpG binding protein 2 gene (MECP2) in patients with Rett syndrome

T. Matsuishi, I. Kondo, Y. Yamashita, 2000, Journal of medical genetics.