D. Cockburn

发表

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

C. Woods, G. Taylor, R. Newbury-Ecob, 2005, Journal of Medical Genetics.

Primary torsion dystonia due to the TOR1A GAG deletion in an Irish family

T. Lynch, S. O'Riordan, D. Cockburn, 2002, Irish journal of medical science.

Is gene deletion in eukaryotes sequence-dependent? A study of nine deletion junctions and nineteen other deletion breakpoints in intron 7 of the human dystrophin gene.

G. B. Petersen, N. Laing, P. Ray, 1998, Gene.

Mutational Signature Analysis Reveals NTHL1 Deficiency to Cause a Multi-tumor Phenotype.

W. Foulkes, G. Capellá, I. Tomlinson, 2019, Cancer cell.

Molecular characterization of further dystrophin gene microsatellites.

A. Seller, M. Passos-Bueno, M. Zatz, 1995, Molecular and cellular probes.

Definition of subchromosomal intervals around the myotonic dystrophy gene region at 19q.

F. Oerlemans, Y. Boyd, J. Schepens, 1989, Genomics.

The parental origin of de novo X-autosome translocations in females with Duchenne muscular dystrophy revealed by M27 beta methylation analysis.

P. Jacobs, I. Craig, D. Robinson, 1990, Genetical research.

Localization of the gene cluster encoding the A, B, and C chains of human C1q to 1p34.1–1p36.3

K. Reid, G. Sellar, D. Cockburn, 2004, Immunogenetics.

Alstrom syndrome in four sibs from northern Jordan

H. Snowden, K. Ajlouni, H. Hamamy, 2006, Annals of Saudi medicine.

Service provision of complex mutation analysis: a technical and economic appraisal using dystrophin point mutation analysis as an example

A. Seller, J. Hopkin, D. Cockburn, 2002, Clinical genetics.

Mapping of 12 translocation breakpoints in the Xp21 region with respect to the locus for Duchenne muscular dystrophy.

G. van Ommen, M. Ferguson-Smith, I. Craig, 1988, Cytogenetics and cell genetics.

Meiotic investigations of aneuploidy in the human.

M. Hultén, B. Wallace, D. Cockburn, 1985, Basic life sciences.

Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus.

A J Day, J. Todd, P. Schofield, 1989, Proceedings of the National Academy of Sciences of the United States of America.

The detection of large deletions or duplications in genomic DNA

G R Taylor, D. Barton, G. Taylor, 2002, Human mutation.

Analysis of DMD translocations

D. Cockburn, 1991 .

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.

X. Estivill, A. Pandya, C. Petit, 2003, American journal of human genetics.

Assignment of apolipoprotein H (APOH: beta-2-glycoprotein I) to human chromosome 17q23----qter; determination of the major expression site.

R B Sim, Robert B Sim, A. Steinkasserer, 1992, Cytogenetics and cell genetics.

Pulsed field gel electrophoresis for detection of gene rearrangements in duchenne muscular dystrophy.

A. Seller, D. Cockburn, 1996, Methods in molecular medicine.

Mapping of X chromosome translocation breakpoints in females with Duchenne muscular dystrophy with respect to exons of the dystrophin gene

I. Craig, Y. Boyd, D. Cockburn, 1992, Human Genetics.