Catherine Bromhead - Concepedia

Author

Catherine Bromhead

Walter and Eliza Hall Institute of Medical Research

Also Known As

Anthony Bretaudeau, Bromhead, Catherine, Cameron J Hyde, Catherine Bromhead, Catherine J Bromhead, Catherine J. Bromhead, Catherine J. Bromhead

Publications

2.8K

Citations

H-Index

Concepts

All Affiliations

Walter and Eliza Hall Institute of Medical Research The University of Melbourne Royal Children's Hospital Murdoch Children's Research Institute Austin Health

About

Catherine Bromhead is an author at Walter and Eliza Hall Institute of Medical Research specializing in medicine, pathology, and neuropathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	4	4	484
2	Neurology	2	2	430
3	Pathology	2	2	199
4	Cell Biology	1	1	162
5	Molecular Genetics	1	1	17

Catherine Bromhead

Publications

843

Citations

H-Index

Page 1

	Year	Citations
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, The American Journal of Human Genetics Neurodegenerative DiseasesGenetic DisorderGeneticsDegenerative DiseaseDegenerative Pathology	2014	268
Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis Pleasantine Mill, Paul J. Lockhart, Elizabeth Fitzpatrick, The American Journal of Human Genetics	2011	167
Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 Todor Arsov, Katherine R. Smith, John A. Damiano, The American Journal of Human Genetics Neuro-oncologyKufs DiseasePathologyMajor Adult FormNeurology	2011	162
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes Katherine R. Smith, Catherine Bromhead, Michael S. Hildebrand, Genome biology	2011	83
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome Gabrielle R. Wilson, Jasmine Sunley, Katherine R. Smith, European Journal of Human Genetics Genetic DisorderPathologySkeletal BiologyDermatologyMedicine	2013	37
Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss Ashley P.L. Marsh, Vesna Lukić, Kate Pope, Neurology Genetics	2015	37
Mutations in <i>TMC1</i> are a Common Cause of DFNB7/11 Hearing Loss in the Iranian Population Michael S. Hildebrand, Kimia Kahrizi, Catherine Bromhead, Annals of Otology Rhinology & Laryngology	2010	31
Heterozygous mutations in <i>HSD17B4</i> cause juvenile peroxisomal D-bifunctional protein deficiency David J. Amor, Ashley P.L. Marsh, Elsdon Storey, Neurology Genetics	2016	21
Autosomal dominant vasovagal syncope Karl Martin Klein, Catherine Bromhead, Katherine R. Smith, Neurology	2013	20
A novel splice site mutation in the <i>RDX</i> gene causes DFNB24 hearing loss in an Iranian family A. Eliot Shearer, Michael S. Hildebrand, Catherine Bromhead, American Journal of Medical Genetics Part A Genetic DisorderGeneticsIranian FamilyMolecular GeneticsDisease Gene Identification	2009	17

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