Emma Hilton

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

Tracy A. Briggs, Gillian Rice, Sarah B. Daly et al. · Nature Genetics · 2011 · 254 citations · Full text

Bone Disease, Rheumatology, Autoimmune Disease +13

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

May Tassabehji, Zhi Fang, Emma Hilton et al. · Human Mutation · 2008 · 198 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +12

Clinical features of the urge-to-cough in patients with chronic cough

Emma Hilton, Paul Marsden, Andrew Thurston et al. · Respiratory Medicine · 2015 · 112 citations · Full text

Asthma, Allergy, Chronic Cough +2

Mutations in HPSE2 Cause Urofacial Syndrome

Sarah B. Daly, Jill Urquhart, Emma Hilton et al. · The American Journal of Human Genetics · 2010 · 108 citations · Full text

Urology, Genetic Disorder, Inherited Metabolic Disease +4

BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects

Emma Hilton, Jennifer J. Johnston, Sandra Whalen et al. · European Journal of Human Genetics · 2009 · 108 citations · Full text

Bcor Analysis, Clinical Disorders, Ophthalmology +5