D.J. Cockburn

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Ignacio del Castillo, Miguel A. Moreno‐Pelayo, Francisco Castillo et al. · The American Journal of Human Genetics · 2003 · 289 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

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

Judith E. Grolleman, Richarda M. de Voer, Fadwa A. Elsayed et al. · Cancer Cell · 2019 · 175 citations · Full text

Medicine, Molecular Biology, Molecular Genetics +12

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

Anne N. Roberts, Brendan Leighton, John A. Todd et al. · Proceedings of the National Academy of Sciences · 1989 · 153 citations · Full text

Life Sciences, Endocrinology, Molecular Biology +17

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

D. Schonk, M. Coerwinkel-Driessen, Ineke van Dalen et al. · Genomics · 1989 · 72 citations

Life Sciences, Genetics, Molecular Genetics +8

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

Julia C. McNaughton, D.J. Cockburn, Gillian Hughes et al. · Gene · 1998 · 38 citations

Life Sciences, Genetics, Molecular Genetics +14