Emma Howard

Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes

Shinji Kondo, Brian C. Schutte, Rebecca J. Richardson et al. · Nature Genetics · 2002 · 891 citations · Full text

Developmental Anomaly, Popliteal Pterygium Syndromes, Mendelian Disorder +6

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

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

Novel <i><scp>KDM6A</scp></i> (<scp>UTX</scp>) mutations and a clinical and molecular review of the X‐linked Kabuki syndrome (<scp>KS2</scp>)

Siddharth Banka, Damien Lederer, Valérie Benoît et al. · Clinical Genetics · 2014 · 134 citations · Full text

Novel surgical treatment and gastric pathology in diabetic gastroparesis

J. L. Bradley, M. Buxton‐Thomas, Michael Edmonds et al. · Diabetic Medicine · 1999 · 114 citations