Wayne Lam - Concepedia

Author

Wayne Lam

Western General Hospital

Also Known As

Andrew Jackson, Anne Lampe, Katherine Lachlan, W Lam, W W K Lam, W W Lam, W. Lam, W.W.K. Lam, Wayne Lam, Wayne Lam

Publications

2.2K

Citations

H-Index

Concepts

All Affiliations

Western General Hospital University of Edinburgh Great Ormond Street Hospital University College London University of Oxford

About

Wayne Lam is an author at Western General Hospital specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	10	11	716
2	Public Health	2	2	190
3	Natural Sciences	1	1	69
4	Social Sciences	1	1	97
5	Biochemistry	1	1	69

Wayne Lam

Publications

1.5K

Citations

H-Index

Page 1

	Year	Citations
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, European Journal of Human Genetics Mendelian DisorderAutoimmune DiseaseGenetic DisorderMedicineGenetics	2011	180
Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation Wayne Lam, Izuho Hatada, Sachiko Oh‐ishi, Journal of Medical Genetics	1999	177
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, Diabetes	2003	169
RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes Margot R.F. Reijnders, Nurhuda Mohamad Ansor, Maria Kousi, The American Journal of Human Genetics Developmental BiologyRac1 Missense MutationsGenetic DisorderGeneticsFragile X Spectrum	2017	163
Calpain inhibition mediates autophagy-dependent protection against polyglutamine toxicity Fiona M. Menzies, Moisés Garcı́a-Arencibia, Sara Imarisio, Cell Death and Differentiation	2014	120
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy Anne O’Donnell‐Luria, Lynn Pais, Víctor Faúndes, The American Journal of Human Genetics Neurodevelopmental DisordersDevelopmental BiologyHeterozygous VariantsKmt2e CauseGenetics	2019	97
Pathogenicity and selective constraint on variation near splice sites Jenny Lord, Giuseppe Gallone, Patrick Short, Genome Research Healthy SubjectsGeneticsRna SplicingPathologyMolecular Genetics	2018	94
Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. Daniel Catchpoole, Wayne Lam, D Valler, Journal of Medical Genetics	1997	90
<i>WT1</i> mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations Mohnish Suri, P. Kelehan, David O’Neill, American Journal of Medical Genetics Part A	2007	76
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH Joe Rainger, Hemant Bengani, Lauren Campbell, Human Molecular Genetics Distinct SubgroupPyrimidine BiosynthesisGeneticsPathologyMolecular Biology	2012	69

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