Wayne Lam

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

Analysis of germline CDKN1C (p57^KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

Wayne Lam, Izuho Hatada, Sachiko Oh‐ishi et al. · Journal of Medical Genetics · 1999 · 177 citations · Full text

Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations

Anna L. Gloyn, Michèl A.A.P. Willemsen, Sian Ellard et al. · Diabetes · 2003 · 169 citations · Full text

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi et al. · The American Journal of Human Genetics · 2017 · 163 citations · Full text

Developmental Biology, Rac1 Missense Mutations, Genetic Disorder +5

Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity

Fiona M. Menzies, Moisés Garcı́a-Arencibia, Sara Imarisio et al. · Cell Death and Differentiation · 2014 · 120 citations · Full text