C. Woods

发表

Two novel SCN9A mutations causing insensitivity to pain

S. Mellgren, J. Aasly, A. Nicholas, 2009, Pain.

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.

ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature

N. Brunetti‐Pierri, M. Mansukhani, F. Santos-Simarro, 2021, American journal of medical genetics. Part A.

Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.

A. Taylor, C. Woods, 1992, The Quarterly journal of medicine.

Malignant disease and variations in radiosensitivity in ataxia telangiectasia patients

P. Byrd, A. Taylor, D. Scott, 1996 .

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Exudative retinopathy in a girl with alström syndrome due to a novel mutation

J. Bond, C. Woods, V. Long, 2007, British Journal of Ophthalmology.

Unusual features in the inheritance of ataxia telangiectasia

A. Taylor, C. Woods, S. Bundey, 1990, Human Genetics.

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

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

Analysis of 7 polymorphic markers at chromosome 11q22-23 in 35 ataxia telangiectasia families; further evidence of linkage

M. Farrall, C. Mcconville, A. Taylor, 1990, Human Genetics.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

Eleanor F. Dewhurst, Courtney E. French, Nicholas S. Gleadall, 2023, medRxiv.

Risk of breast cancer and other cancers in heterozygotes for ataxia-telangiectasia

H. Inskip, A. Taylor, C. Arlett, 1999, British Journal of Cancer.

Clinical and cellular heterogeneity in ataxia-telangiectasia

P. Byrd, A. Taylor, C. Mcconville, 1993 .

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

A. Taylor, M. Stacey, C. Mcconville, 1993, Journal of medical genetics.

Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis

D. Evans, R. Ferner, G. Leschziner, 2012, neurogenetics.

Neither uniparental disomy nor skewed X‐inactivation explains Rett syndrome

E. Watkiss, T. Webb, C. Woods, 1993, Clinical genetics.

X‐inactivation in girls with Rett syndrome

S. Green, T. Webb, M. H. Kormann-Bortolotto, 1992, Clinical 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.

De novo gain-of-function mutation in SCN11A: No pain, More pain, or a bit of Both?

J. Tolmie, I. Horrocks, C. Mcwilliam, 2014 .

Two novel SCN9A mutations causing insensitivity to pain

S. Mellgren, J. Aasly, A. Nicholas, 2009, Pain.