J A Hurst

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

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

Sarah F. Slaney, Michael Oldridge, J A Hurst et al. · PubMed · 1996 · 235 citations

Expansion of the first PolyA tract of <i>ARX</i> causes infantile spasms and status dystonicus

Renzo Guerrini, Francesca Moro, Mitsuhiro Kato et al. · Neurology · 2007 · 147 citations

De novo deletion of Xp22.2-pter in a female with linear skin lesions of the face and neck, microphthalmia, and anterior chamber eye anomalies.

I. Karen Temple, J A Hurst, Sandra Hing et al. · Journal of Medical Genetics · 1990 · 67 citations · Full text

Developmental Anomaly, Thumb Hypoplasia, Ophthalmology +13

A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

Samantha J.L. Knight, Rachael J. Ritchie, Lisa Chakrabarti et al. · PubMed · 1996 · 59 citations