S
Sue Malcolm
Researcher at University College London
Publications - 110
Citations - 7671
Sue Malcolm is an academic researcher from University College London. The author has contributed to research in topics: Angelman syndrome & Gene. The author has an hindex of 48, co-authored 110 publications receiving 7416 citations. Previous affiliations of Sue Malcolm include UCL Institute of Child Health & University of London.
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Journal ArticleDOI
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
Ulf Korthäuer,Daniel Graf,Hans W. Mages,Francine Brière,M Padayachee,Sue Malcolm,Alberto G. Ugazio,Luigi D. Notarangelo,Roland J. Levinsky,Richard A. Kroczek +9 more
TL;DR: Evidence is presented that point mutations in the TRAP gene give rise to nonfunctional or defective expression of TRAP on the surface of T cells in patients with HIGM1, which is responsible for the observed immunoglobulin isotype defect in HIGm1.
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Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
TL;DR: Direct sequencing has revealed specific mutations in the B exon of FGFR2 in all nine sporadic and familial cases, including replacement of a cysteine in an immunoglobulin-like domain in five patients.
Journal ArticleDOI
Uniparental paternal disomy in Angelman's syndrome
Sue Malcolm,Jill Clayton-Smith,M. Nichols,Marcus Pembrey,John A.L. Armour,Alec J. Jeffreys,S. Robb,Tessa Webb +7 more
TL;DR: In 2 patients with Angelman's syndrome the authors found evidence of uniparental paternal disomy, strong evidence in man for genomic imprinting, in which the same gene has different effects dependent upon its parental origin.
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Identification of the gene for oral-facial-digital type I syndrome.
Maria Immacolata Ferrante,Sally Feather,Alessandro Bulfone,Victoria Wright,Michela Ghiani,Angelo Selicorni,Linda Gammaro,Francesco Scolari,Adrian S. Woolf,Odent Sylvie,Le Marec Bernard,Sue Malcolm,Robin M. Winter,Andrea Ballabio,Giovanna Giorgio,Brunella Franco +15 more
TL;DR: RNA in situ studies on mouse embryo tissue sections show that Ofd1 is developmentally regulated and is expressed in all tissues affected in OFD1 syndrome, demonstrating an important role of this gene in human development.
Journal ArticleDOI
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist.
B. B. A. De Vries,Susan M. White,Samantha J. L. Knight,Regina Regan,Tessa Homfray,I D Young,Maurice Super,Craig A. McKeown,M. Splitt,Oliver Quarrell,Alison H. Trainer,Martinus F. Niermeijer,Sue Malcolm,Jonathan Flint,Jane A. Hurst,Robin M. Winter +15 more
TL;DR: The results suggest that good indicators for subtelomeric defects are prenatal onset of growth retardation and a positive family history for mental retardation, which will improve the diagnostic pick up rate of subtelomere defects among mentally retarded subjects.