Sancha Bunstone

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

The proportion of endometrial tumours associated with Lynch syndrome (PETALS): A prospective cross-sectional study

Neil Ryan, R F McMahon, Simon Tobi et al. · PLoS Medicine · 2020 · 94 citations · Full text

<i><scp>MLL2</scp></i> mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome

Siddharth Banka, Emma Howard, Sancha Bunstone et al. · Clinical Genetics · 2012 · 48 citations

Rare Diseases, Mendelian Disorder, Genetic Disorder +15