Publications by authors named "Catherine J Bromhead"

9Publications

Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.

Eur J Hum Genet 2014 Jun 9;22(6):741-7. Epub 2013 Oct 9.

1] Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, The Royal Children's Hospital, Flemington Road, Melbourne, VIC, Australia [2] Department of Paediatrics, The University of Melbourne, Melbourne, VIC, Australia.

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June 2014

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Arch Neurol 2012 Apr;69(4):474-81

Institute of Genetic Medicine, Faculty of Medical Sciences and Newcastle Biomedicine, Newcastle University, Central Parkway, Newcastle upon Tyne, England.

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April 2012

Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.

Genome Biol 2011 Sep 14;12(9):R85. Epub 2011 Sep 14.

Bioinformatics Division, The Walter and Eliza Hall Institute of Medical Research, 1G Royal Parade, Parkville, Victoria 3052, Australia.

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September 2011