Publications by authors named "Kelly Springell"

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The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.
Mehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, James J Cox, Beyhan Tuysuz, Kelly Springell

Am J Hum Genet· May 2011

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Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.
Katherine V Towns, Athina Kipioti, Vernon Long, Martin McKibbin, Cecilia Maubaret, Kelly Springell

Hum Mutat· May 2010

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Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.
Martin McKibbin, Manir Ali, Moin D Mohamed, Adam P Booth, Fiona Bishop, Kelly Springell

Arch Ophthalmol· January 2010

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Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Mohammad R Abdollahi, Ewan Morrison, Tamara Sirey, Zoltan Molnar, Bruce E Hayward, Kelly Springell

Am J Hum Genet· November 2009

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Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.
Seema Anand, Eamonn Sheridan, Frances Cassidy, Chris Inglehearn, Grange Williams, Kelly Springell

Retina· May 2009

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Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
David A Parry, Carmel Toomes, Lina Bida, Michael Danciger, Katherine V Towns, Kelly Springell

Am J Hum Genet· May 2009

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Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
Anneke I den Hollander, Robert K Koenekoop, Moin D Mohamed, Heleen H Arts, Karsten Boldt, Kelly Springell

Nat Genet· July 2007

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An SCN9A channelopathy causes congenital inability to experience pain.
James J Cox, Frank Reimann, Adeline K Nicholas, Gemma Thornton, Emma Roberts, Kelly Springell

Nature· December 2006

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MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.
Daniel J Hampshire, Mohammed Ayub, Kelly Springell, Emma Roberts, Hussain Jafri

Eur J Hum Genet· May 2006

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Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.
C Geoffrey Woods, James Cox, Kelly Springell, Daniel J Hampshire, Moin D Mohamed

Am J Hum Genet· May 2006

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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.
Mireille Cossée, Bénédicte Demeer, Patricia Blanchet, Bernard Echenne, Deepika Singh, Kelly Springell

Eur J Hum Genet· April 2006

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A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size.
Jacquelyn Bond, Emma Roberts, Kelly Springell, Sofia B Lizarraga, Sheila Scott

Nat Genet· April 2005

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Protein-truncating mutations in ASPM cause variable reduction in brain size.
Jacquelyn Bond, Sheila Scott, Daniel J Hampshire, Kelly Springell, Peter Corry

Am J Hum Genet· November 2003

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ASPM is a major determinant of cerebral cortical size.
Jacquelyn Bond, Emma Roberts, Ganesh H Mochida, Daniel J Hampshire, Sheila Scott, Kelly Springell

Nat Genet· October 2002

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