selected publications
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academic article
- Advancing research. eLife. 3. 2014
- Reforming research assessment. eLife. 2. 2013
- Launching eLife , Part 1 . eLife. 1. 2012
- Please Welcome Our First Academic Editor-in-Chief. PLoS Biology. 6:e49. 2008
- Replication Publication. PLoS Biology. 3:e327. 2005
- The PLoS Community Journals. PLoS Biology. 3:e129. 2005
- PLoS Biology—We're Open. PLoS Biology. 1:e34. 2003
- A bridge to complex disease. Nature reviews. Genetics. 2:828-828. 2001
- A well-shuffled deck. Nature reviews. Genetics. 2:238-238. 2001
- Comprehensive interference. Nature reviews. Genetics. 2:6-6. 2001
- Insulin — meet the family. Nature reviews. Genetics. 2:243-243. 2001
- Manipulating the system. Nature reviews. Genetics. 2:89-89. 2001
- Shaping gradients. Nature reviews. Genetics. 2:86-86. 2001
- The logic of transcription. Nature reviews. Genetics. 2:653-653. 2001
- Bioinformatics: Mining gene expression data. Nature reviews. Genetics. 1:165-165. 2000
- Cancer: The trouble with smoking. Nature reviews. Genetics. 1:168-168. 2000
- Give me a break. Nature reviews. Genetics. 1:89-89. 2000
- Highs and lows. Nature reviews. Genetics. 1:83-83. 2000
- Malaria: Resisting drugs. Nature reviews. Genetics. 1:167-167. 2000
- That damned elusive polygene. Nature reviews. Genetics. 1:86-86. 2000
- The gene trust | Talking heads. Nature reviews. Genetics. 1:84-84. 2000
- Androgen insensitivity syndrome: a survey of diagnostic procedures and management in the UK. Archives of disease in childhood. 77:305-309. 1997
- Androgen insensitivity with mental retardation: a contiguous gene syndrome?. Journal of Medical Genetics. 34:158-160. 1997
- Phenotypic diversity in siblings with partial androgen insensitivity syndrome. Archives of disease in childhood. 76:529-531. 1997
- Wide variation in androgen receptor dysfunction in complete androgen insensitivity syndrome. The Journal of steroid biochemistry and molecular biology. 61:19-26. 1997
- Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome. Human Molecular Genetics. 5:265-273. 1996
- Genetic counselling in complete androgen insensitivity syndrome: trinucleotide repeat polymorphisms, single-strand conformation polymorphism and direct detection of two novel mutations in the androgen receptor gene. Clinical endocrinology. 43:69-77. 1995
- Androgen insensitivity syndrome.. Archives of disease in childhood. 68:343-344. 1993
- Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities.. Journal of Medical Genetics. 30:767-772. 1993
- Mutations of the androgen receptor gene identified in perineal hypospadias.. Journal of Medical Genetics. 30:198-201. 1993
- Phenotypic variation and detection of carrier status in the partial androgen insensitivity syndrome.. Archives of disease in childhood. 68:453-457. 1993
- Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome. Human molecular genetics. 1:497-503. 1992
- Mapping of a cerebellar degeneration related protein and DXS304 around the fragile site. American journal of medical genetics. 38:354-356. 1991
- Genetic and physical mapping of a novel region close to the fragile X site on the human X chromosome. Genomics. 4:570-578. 1989
- MASA syndrome: further clinical delineation and chromosomal localisation. Human genetics. 82. 1989
- Physical mapping of DXS134 close to the DXS52 locus. Human genetics. 82:27-30. 1989
- Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome. American journal of medical genetics. 29:557-564. 1988
- Molecular analysis of muscular dystrophy. Journal of muscle research and cell motility. 9:1-8. 1988
- Is the end in cite?. EMBO reports. 10:1186-1186.
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