K. Springell

发表

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease.

Mustaq Ahmed, F Lucy Raymond, Martin McKibbin, 2006, American journal of human genetics.

Genotype-phenotype correlation for leber congenital amaurosis in Northern Pakistan.

K. Springell, M. Mohamed, M. McKibbin, 2010, Archives of ophthalmology.

Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

S. Mundlos, C. Woods, J. Bond, 2006, American journal of human genetics.

Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.

D. Bonthron, Z. Molnár, Y. Crow, 2009, American journal of human genetics.

Loss of the Metalloprotease ADAM9 Leads to Cone-Rod Dystrophy in Humans and Retinal Degeneration in Mice

Colin A. Johnson, S. Jacobson, Rebecca K. Chance, 2009, American journal of human genetics.

MACULAR DYSTROPHY ASSOCIATED WITH THE ARG172TRP SUBSTITUTION IN PERIPHERIN/RDS: Genotype-Phenotype Correlation

K. Springell, M. McKibbin, C. Inglehearn, 2009, Retina.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

L. Vallée, B. Echenne, M. Cossée, 2006, European Journal of Human Genetics.

A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size

Hussain Jafri, Emma Roberts, Sheila Scott, 2005, Nature Genetics.

An SCN9A channelopathy causes congenital inability to experience pain

Hussain Jafri, Emma Roberts, Enza Maria Valente, 2006, Nature.

ASPM is a major determinant of cerebral cortical size

Alexander F. Markham, Emma Roberts, Christopher A. Walsh, 2002, Nature Genetics.

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis

T. Strom, J. Veltman, R. Roepman, 2007, Nature Genetics.

The molecular landscape of ASPM mutations in primary microcephaly

M. Fichera, C. Romano, C. Woods, 2008, Journal of Medical Genetics.

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34

C. Woods, J. Bond, K. Springell, 2006, European Journal of Human Genetics.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2010, Human mutation.

Prognosis for splicing factor PRPF8 Retinitis pigmentosa and correlation between human and yeast phenotypes

D. Mackey, S. Bhattacharya, J. Beggs, 2009 .

Protein-truncating mutations in ASPM cause variable reduction in brain size.

C. Walsh, R. Hennekam, C. Woods, 2003, American journal of human genetics.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Tanyeri Barak, 2011, American journal of human genetics.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

C. Woods, Y. Crow, J. Bond, 2002, Journal of medical genetics.

Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.

D. K. Williams, K. Springell, K. Chandler, 2006, Brain : a journal of neurology.

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31

V. Gauba, K. Springell, M. McKibbin, 2007, British Journal of Ophthalmology.

The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis.

C. Woods, M. Crosier, Mehmet Bakırcıoğlu, 2011, American journal of human genetics.

Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation

C. Woods, Y. Crow, J. Bond, 2002, Journal of medical genetics.

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

S. Bhattacharya, J. Beggs, K. Springell, 2010, Human mutation.