Wayne Lam
National Health Service Scotland(GB)NHS Education for Scotland(GB)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Epigenetics and DNA Methylation, Prenatal Screening and Diagnostics
Most-Cited Works
- → How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum(2011)180 cited
- → Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation(1999)178 cited
- → Insights Into the Biochemical and Genetic Basis of Glucokinase Activation From Naturally Occurring Hypoglycemia Mutations(2003)172 cited
- → RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes(2017)164 cited
- → Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity(2014)121 cited
- → Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1(2007)114 cited