Emma Hobson

Harlequin Ichthyosis

Shefali Rajpopat, Celia Moss, Jemima E. Mellerio et al. · Archives of Dermatology · 2011 · 193 citations

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Siddharth Banka, Ratna Veeramachaneni, William Reardon et al. · European Journal of Human Genetics · 2011 · 180 citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +13

Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance

Jill Clayton‐Smith, Sarah Walters, Emma Hobson et al. · European Journal of Human Genetics · 2008 · 137 citations · Full text

Urology, Distinctive Facial Appearance, Xq28 Duplication +3

8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH

John Barber, Viv Maloney, Shuwen Huang et al. · European Journal of Human Genetics · 2007 · 126 citations · Full text

Array Cgh, Genetic Disorder, Genetics +7

Identification of the First ATRIP–Deficient Patient and Novel Mutations in ATR Define a Clinical Spectrum for ATR–ATRIP Seckel Syndrome

Tomoo Ogi, Sarah Walker, Tom Stiff et al. · PLoS Genetics · 2012 · 112 citations · Full text