Author

Wayne W. K. Lam

Western General Hospital

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Organism:human· 4 Research Focus:differential expression· 3 Approach:experimental assay· 2 Approach:statistical model· 2 Assay:whole-exome sequencing· 2 Assay:whole-genome sequencing· 2 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

David MooreiD· 3 shared Anne Katrin LampeiD· 2 shared David ParryiD· 2 shared David R FitzPatrickiD· 2 shared Giuseppe GalloneiD· 2 shared Goutham AtlaiD· 2 shared Inês CebolaiD· 2 shared Jeremy F. McRaeiD· 2 shared

Activity by Year

2019-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

David MooreORCID

Mutual co-authors in cluster

Author profile →

4 papers

Recent·Most cited

Regulatory de novo mutations underlying intellectual disability

Matías G. De Vas, Fanny Boulet, Shweta S Joshi, Myles G. Garstang, Tahir Naeem Khan, Goutham Atla, David Parry, David Moore, Inês Cebola, Shuchen Zhang, Wei Cui, Anne Katrin Lampe, Wayne W. K. Lam, Jorge P. Ferrer, Madapura M. Pradeepa, Santosh S. Atanur

This study identifies regulatory de novo mutations in fetal brain-specific enhancers as a significant contributor to intellectual disability.

medRxiv · Nov 14, 2022 · PreprintGenetic & Genomic Medicine

The contribution of X-linked coding variation to severe developmental disorders

Hilary C. Martin, Eugene J. Gardner, Kaitlin E. Samocha, Joanna Kaplanis, Nadia A. Akawi, Alejandro Sifrim, Ruth Y. Eberhardt, Ana Lisa Taylor Tavares, Matthew D. C. Neville, Mari Niemi, Giuseppe Gallone, Jeremy F. McRae, Deciphering Developmental Disorders Study, Silvia Borras, Caroline Clark, , Therese Bradley

The paper analyzes X-linked coding variation in developmental disorders, finding similar rates in males and females and estimating pathogenicity of inherited variants.

Nature Communications · Jan 27, 2021Peer-reviewedGenetic & Genomic Medicine

De novo variants in population constrained fetal brain enhancers and intellectual disability

Matías G. De Vas, Myles G. Garstang, Shweta S Joshi, Tahir Naeem Khan, Goutham Atla, David Parry, David Moore, Inês Cebola, Shuchen Zhang, Wei Cui, Anne Katrin Lampe, Wayne W. K. Lam, David R FitzPatrick, Jorge P. Ferrer, Madapura M. Pradeepa, Santosh S. Atanur

The paper identifies de novo variants in fetal brain enhancers linked to intellectual disability by analyzing genomic data from affected individuals and their parents.

bioRxiv · Sep 8, 2019 · PreprintGenomics

Pathogenicity and selective constraint on variation near splice sites

Jenny Lord, Giuseppe Gallone, Patrick Short, Jeremy F. McRae, Holly Ironfield, Elizabeth H. Wynn, Sebastian S. Gerety, Liu He, Bronwyn A. Kerr, Diana S. Johnson, Emma McCann, Esther Kinning, Frances A. Flinter, I. Karen Temple, Jill Clayton‐Smith, , on behalf of the Deciphering Developmental Disorders study

The paper analyzes exome sequencing data to assess the contribution of splice site mutations to developmental disorders and estimates their pathogenicity and underrepresentation in public databases.

Genome Research · Feb 1, 2019Peer-reviewedGenetics