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Sarah F. Slaney

Observed names: S F Slaney, S Slaney, S. F. Slaney, S. SLANEY, S. Slaney, S.F. Slaney, Sarah R Slaney, Sarah Slaney, Slaney Sf, Slaney, Sarah
Observed institutions: Royal Children's Hospital, University of Cambridge, Great Ormond Street Hospital, Great Ormond Street Hospital for Children NHS Foundation Trust, Churchill Hospital, Princess Anne Hospital, John Radcliffe Hospital, University of Oxford, Newcastle University
OpenAlex ID: A5113597773
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
1995 · Andrew O.M. Wilkie, Sarah F. Slaney, et al. · Nature Genetics · 935
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
1995 · Paul Rutland, Louise J. Pulleyn, et al. · Nature Genetics · 445
Exclusive paternal origin of new mutations in Apert syndrome
1996 · Dominique M. Moloney, Sarah R Slaney, et al. · Nature Genetics · 314
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
1996 · S F Slaney, M Oldridge, et al. · PubMed Central · 231
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain
1997 · Richard J. Gibbons, Satvinder Bachoo, et al. · Nature Genetics · 202
Asymmetry and skin pigmentary anomalies in chromosome mosaicism.
1994 · C G Woods, A Bankier, et al. · Journal of Medical Genetics · 150
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An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
1998 · S F Slaney, I J Chalmers, et al. · Journal of Medical Genetics · 112
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Large scale deletions in the GPC3 gene may account for a minority of cases of Simpson-Golabi-Behmel syndrome.
1997 · S Lindsay, M Ireland, et al. · Journal of Medical Genetics · 64
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Craniofrontonasal dysplasia
1997 · D.J.A. Orr, S. Slaney, et al. · British Journal of Plastic Surgery · 43
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Congenital Cervical Spinal Fusion; A Study in Apert Syndrome
2008 · Dominic N. Thompson, Sarah F. Slaney, et al. · Pediatric Neurosurgery · 32
DNA testing for fragile X syndrome in schools for learning difficulties.
1995 · S F Slaney, A O Wilkie, et al. · Archives of Disease in Childhood · 32
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Kabuki make-up and Turner syndromes in the same patient
1994 · D. G. WELLESLEY, S. SLANEY · Clinical Dysmorphology · 32
Acromelic Frontonasal Dysostosis
1999 · Sarah F. Slaney, Frances R. Goodman, et al. · American Journal of Medical Genetics · 29
A new syndrome of short stature, distinctive facial features and periventricular grey matter heterotopia
1999 · S. F. Slaney, W. K. Chong, et al. · Clinical Dysmorphology · 23
MURCS in a male?
1995 · D G Wellesley, S F Slaney · Journal of Medical Genetics · 22
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A new syndrome of spondyloepimetaphyseal dysplasia, eczema and hypogammaglobulinaemia
1999 · S. F. Slaney, C. M. Hall, et al. · Clinical Dysmorphology · 15
Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome).
1997 · A A Morris, J S Sequeira, et al. · Journal of Medical Genetics · 15
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Mesomelic limb shortness: A previously unreported autosomal recessive type
1993 · W. Reardon, C. M. Hall, et al. · American Journal of Medical Genetics · 13
Hemifacial hypoplasia and hypomelanosis of Ito
1995 · S.T. Tan, S.F. Slaney, et al. · Journal of Cranio-Maxillofacial Surgery · 6
Handbook of Prenatal Diagnosis
1996 · S. Slaney · Journal of Medical Genetics · 4
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Lethal micromelic short-rib skeletal dysplasia with triangular-shaped humerus
1999 · Sarah F. Slaney, Alan Sprigg, et al. · Pediatric Radiology · 2
Acromelic Frontonasal Dysostosis
1999 · Sarah F. Slaney, Frances R. Goodman, et al. · American Journal of Medical Genetics · 2
Severe microcephaly, choreiform movements, cataracts and sensorineural deafness in two patients
2000 · Astrid S. Plomp, Michael Baraitser, et al. · Clinical Dysmorphology · 1
Medical genetics: advances in brief
1998 · Sarah Slaney · Journal of Medical Genetics
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Medical genetics: advances in brief
1998 · Sarah Slaney · Journal of Medical Genetics
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Works count: 37
Citation count: 2,724
H-index: 15
I10-index: 18
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