Author pages are created from data sourced from our academic publisher partnerships and public sources.
- Publications
- Influence
A forkhead-domain gene is mutated in a severe speech and language disorder
- C. Lai, S. Fisher, J. Hurst, F. Vargha-Khadem, A. Monaco
- Biology, Medicine
- Nature
- 4 October 2001
Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or… Expand
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
- L. E. L. M. Vissers, C. V. Ravenswaaij, +11 authors A. H. Kessel
- Biology, Medicine
- Nature Genetics
- 8 August 2004
CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array… Expand
Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.
- A. Ryan, J. Goodship, +22 authors P. Scambler
- Biology, Medicine
- Journal of medical genetics
- 1 October 1997
We present clinical data on 558 patients with deletions within the DiGeorge syndrome critical region of chromosome 22q11. Twenty-eight percent of the cases where parents had been tested had inherited… Expand
Congenital leptin deficiency is associated with severe early-onset obesity in humans
- C. T. Montague, I. Farooqi, +12 authors S. O'Rahilly
- Biology, Medicine
- Nature
- 26 June 1997
The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin, an adipocyte-specific secreted protein which has profound effects on appetite and energy… Expand
Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
- A. Sharp, S. Hansen, +17 authors E. Eichler
- Biology, Medicine
- Nature Genetics
- 4 September 2006
Genomic disorders are characterized by the presence of flanking segmental duplications that predispose these regions to recurrent rearrangement. Based on the duplication architecture of the genome,… Expand
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
- S. F. Slaney, M. Oldridge, +4 authors A. Wilkie
- Biology, Medicine
- American journal of human genetics
- 1 May 1996
Apert syndrome is a distinctive human malformation characterized by craniosynostosis and severe syndactyly of the hands and feet. It is caused by specific missense substitutions involving adjacent… Expand
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome
- D. Koolen, A. Sharp, +45 authors B. D. de Vries
- Biology, Medicine
- Journal of Medical Genetics
- 15 July 2008
Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental… Expand
Heterozygous mutations of OTX2 cause severe ocular malformations.
- N. Ragge, A. Brown, +18 authors I. Hanson
- Biology, Medicine
- American journal of human genetics
- 1 June 2005
Major malformations of the human eye, including microphthalmia and anophthalmia, are examples of phenotypes that recur in families yet often show no clear Mendelian inheritance pattern. Defining loci… Expand
An extended Family with a Dominantly Inherited Speech Disorder
- J. Hurst, M. Baraitser, E. Auger, F. Graham, S. Norell
- Medicine, Psychology
- Developmental medicine and child neurology
- 1 April 1990
A three‐generation family is described in which 16 members have a severe developmental verbal dyspraxia. Inheritance is autosomal dominant, with full penetrance. Intelligence and hearing are normal.
Prevalence and Complications of Single-Gene and Chromosomal Disorders in Craniosynostosis
OBJECTIVES: We describe the first cohort-based analysis of the impact of genetic disorders in craniosynostosis. We aimed to refine the understanding of prognoses and pathogenesis and to provide… Expand