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Sarah F. Slaney | Researchclopedia

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Sarah F. Slaney

32

Works

2,315

Citations

14

h-index

15

i10-index

Research Topics

Craniofacial Disorders and Treatments Cleft Lip and Palate Research Congenital limb and hand anomalies

Affiliations

Royal Children's Hospital1994–1994

University of Cambridge1998–1998

Great Ormond Street Hospital1999–1999

Royal Hospital for Children1996–1996

Churchill Hospital1993–1995

Top Works

Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome

Andrew O.M. Wilkie,Sarah F. Slaney,et al.

1995929 citations

Genomic variations and chromosomal abnormalities

Connective tissue disorders research

Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

Paul Rutland,Louise J. Pulleyn,et al.

1995456 citations

Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.

Sarah F. Slaney,Michael Oldridge,et al.

1996235 citations

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Richard J. Gibbons,Satvinder Bachoo,et al.

1997205 citations

Asymmetry and skin pigmentary anomalies in chromosome mosaicism.

C. Geoffrey Woods,Agnes Bankier,et al.

1994151 citations

An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.

Sarah F. Slaney,I.Jennifer Chalmers,et al.

1998111 citations

Kabuki make-up and Turner syndromes in the same patient

Diana Wellesley,Sarah F. Slaney

199434 citations

DNA testing for fragile X syndrome in schools for learning difficulties.

Sarah F. Slaney,Andrew O.M. Wilkie,et al.

199532 citations

Congenital Cervical Spinal Fusion; A Study in Apert Syndrome

Dominic Thompson,Sarah F. Slaney,et al.

199631 citations