Research Topics
Genomes and Genes | C Geoffrey WoodsSummaryAffiliation: University of Cambridge Country: UK Publications
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Publications
Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findingsC Geoffrey Woods
Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, United Kingdom
Am J Hum Genet 76:717-28. 2005..So an understanding of this rare genetic disorder may offer us significant insights into neurogenic mitosis and the evolution of the most striking differences between us and our closest living relatives: brain size and cognitive ability...
Quantification of homozygosity in consanguineous individuals with autosomal recessive diseaseC Geoffrey Woods
Department of Medical Genetics, Cambridge Institute of Medical Research, University of Cambridge, Addenbrooke s Hospital, Cambridge, CB2 2XY, UK
Am J Hum Genet 78:889-96. 2006..This has important clinical and research implications...
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndromeC G Woods
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Hills Road, Cambridge CB2 2XY, UK
Am J Hum Genet 79:402-8. 2006..These findings illustrate the specific and conserved importance of WNT7A in multiple aspects of vertebrate limb development...
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1Anne Gregor
Institute of Human Genetics, Friedrich Alexander University Erlangen Nuremberg, Erlangen, Germany
BMC Med Genet 12:106. 2011..Recently, homozygous or compound heterozygous defects in either gene were reported as causative for severe intellectual disability...
Human ASPM participates in spindle organisation, spindle orientation and cytokinesisJulie Higgins
Section of Ophthalmology and Neuroscience, Wellcome Trust Brenner Building, Leeds Institute of Molecular Medicine, University of Leeds, St James s University Hospital, Leeds LS9 7TF, UK
BMC Cell Biol 11:85. 2010..ASPM encodes a mitotic spindle pole associated protein. It is suggested that the MCPH phenotype arises from proliferation defects in neural progenitor cells (NPC)...
WDR62 is associated with the spindle pole and is mutated in human microcephalyAdeline K Nicholas
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
Nat Genet 42:1010-4. 2010....
A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathyOfélia P Carvalho
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
J Med Genet 48:131-5. 2011..The condition is linked to a new homozygous mutation in the NGF gene, c.[680C>A]+[681_682delGG]...
A primary microcephaly protein complex forms a ring around parental centriolesJoo Hee Sir
Cancer Research UK Cambridge Research Institute, Li Ka Shing Centre, Cambridge, UK
Nat Genet 43:1147-53. 2011..This work suggests that the CEP152-CEP63 ring-like structure ensures normal neurodevelopment and that its impairment particularly affects human cerebral cortex growth...
Pain perception is altered by a nucleotide polymorphism in SCN9AFrank Reimann
Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke s Hospital, Cambridge CB2 0XY, United Kingdom
Proc Natl Acad Sci U S A 107:5148-53. 2010..We conclude that individuals experience differing amounts of pain, per nociceptive stimulus, on the basis of their SCN9A rs6746030 genotype...
Primary microcephaly: do all roads lead to Rome?Gemma K Thornton
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrookes Hospital, Cambridge, UK
Trends Genet 25:501-10. 2009..Here, we focus on recent functional studies of MCPH proteins that reveal the centrosome as a final integration point for many regulatory pathways affecting prenatal neurogenesis in mammals...
An SCN9A channelopathy causes congenital inability to experience painJames J Cox
Department of Medical Genetics, Cambridge Institute for Medical Research, Wellcome MRC Building, Addenbrooke s Hospital, Cambridge CB2 0XY, UK
Nature 444:894-8. 2006..Our data suggest that SCN9A is an essential and non-redundant requirement for nociception in humans. These findings should stimulate the search for novel analgesics that selectively target this sodium channel subunit...
