Publications by authors named "Catherine Bromhead"

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Heterozygous mutations in cause juvenile peroxisomal D-bifunctional protein deficiency.
David J Amor, Ashley P L Marsh, Elsdon Storey, Rick Tankard, Greta Gillies, Catherine Bromhead

Neurol Genet· December 2016

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Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
Ashley P L Marsh, Vesna Lukic, Kate Pope, Catherine Bromhead, Rick Tankard

Neurol Genet· August 2015

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Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Gabrielle R Wilson, Joe C H Sim, Catriona McLean, Maila Giannandrea, Charles A Galea, Catherine J Bromhead

Am J Hum Genet· December 2014

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Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
Gabrielle R Wilson, Jasmine Sunley, Katherine R Smith, Kate Pope, Catherine J Bromhead

Eur J Hum Genet· June 2014

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Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.
Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, Christopher J O'Callaghan, Susan J Corcoran

Neurology· April 2013

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Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.
Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows

Arch Neurol· April 2012

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Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
Katherine R Smith, Catherine J Bromhead, Michael S Hildebrand, A Eliot Shearer, Paul J Lockhart

Genome Biol· September 2011

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Kufs disease, the major adult form of neuronal ceroid lipofuscinosis, caused by mutations in CLN6.
Todor Arsov, Katherine R Smith, John Damiano, Silvana Franceschetti, Laura Canafoglia, Catherine J Bromhead

Am J Hum Genet· May 2011

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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis.
Pleasantine Mill, Paul J Lockhart, Elizabeth Fitzpatrick, Hayley S Mountford, Emma A Hall, Catherine J Bromhead

Am J Hum Genet· April 2011

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Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Michael S Hildebrand, Kimia Kahrizi, Catherine J Bromhead, A Eliot Shearer, Jennifer A Webster

Ann Otol Rhinol Laryngol· December 2010

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A novel splice site mutation in the RDX gene causes DFNB24 hearing loss in an Iranian family.
A Eliot Shearer, Michael S Hildebrand, Catherine J Bromhead, Kimia Kahrizi, Jennifer A Webster

Am J Med Genet A· March 2009

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