J. Goodship

发表

Genetics and Genomics in Medicine

T. Strachan, P. Chinnery, J. Goodship, 2014 .

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Matthew J. Daniels, Sri V. V. Deevi, M. Farrall, 2018, Genetics in Medicine.

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

M. Pembrey, A. Clarke, S. Malcolm, 1990, Journal of medical genetics.

Genotype to phenotype

Sue Malcolm, S. Malcolm, Steve E Humphries, 2004 .

A population study of chromosome 22q11 deletions in infancy

I. Cross, J. Goodship, Christopher Wren, 1998, Archives of disease in childhood.

Genetic prediction in X-linked agammaglobulinaemia.

M. Pembrey, R. Winter, S. Malcolm, 1988, American journal of medical genetics.

Molecular Genetic Study of the Frequency of Monosomy 22q I I in DiGeorge Syndrome

Paul, D., S. Halford, 2006 .

Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism

I. Griffiths, M. Barker, M. Clarke, 2001, The British journal of ophthalmology.

A splicing mutation affecting expression of ataxia–telangiectasia and Rad3–related protein (ATR) results in Seckel syndrome

Judith A. Goodship, Penny A. Jeggo, C. Geoffrey Woods, 2003, Nature Genetics.

The development of atypical haemolytic-uraemic syndrome is influenced by susceptibility factors in factor H and membrane cofactor protein: evidence from two independent cohorts

H. Deng, J. Goodship, T. Goodship, 2005, Journal of Medical Genetics.

Genetic studies into inherited and sporadic hemolytic uremic syndrome.

J. Goodship, Y. Pirson, P. Turnpenny, 1998, Kidney international.

Characterization of mutations in complement factor I (CFI) associated with hemolytic uremic syndrome.

G. Remuzzi, J. Goodship, J. Atkinson, 2007, Molecular immunology.

Adult‐onset motor neuron disease and infantile Werdnig‐Hoffmann disease (spinal muscular atrophy type 1) in the same family

J. Slade, J. Burn, J. Goodship, 1992, Neurology.

Trisomy 12 mosaicism in a 7 year old girl with dysmorphic features and normal mental development.

J. Goodship, C. English, A. Jackson, 1994, Journal of medical genetics.

A submicroscopic translocation, t(4;10), responsible for recurrent Wolf-Hirschhorn syndrome identified by allele loss and fluorescent in situ hybridisation.

J. Burn, J. Goodship, S. Bhattacharya, 1992, Journal of medical genetics.

A mutation in the neurofibromatosis type 2 tumor-suppressor gene, giving rise to widely different clinical phenotypes in two unrelated individuals.

D. Evans, T. Strachan, J. Goodship, 1994, American journal of human genetics.

A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

J. Burn, J. Goodship, A. Bankier, 1992, American journal of human genetics.

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22ql 1

P Scambler, P. Scambler, J. Goodship, 2022 .

A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy.

J. Goodship, M. Barker, M. Clarke, 2000, The Journal of biological chemistry.

Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy.

M. Pembrey, S. Malcolm, M. Robertson, 1988, Journal of medical genetics.

Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.

J. Goodship, R. Thompson, A. Howie, 1999, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion

M. Pembrey, J. Goodship, M. Bobrow, 1987, Human Genetics.