Author

Shuchen Zhang

Imperial College LondonORCID 0000-0002-2246-9972Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Assay:whole-genome sequencing· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1

Frequent Co-Authors

Anne Katrin LampeiD· 2 shared David MooreiD· 2 shared David ParryiD· 2 shared Goutham AtlaiD· 2 shared Inês CebolaiD· 2 shared Jorge P. FerreriD· 2 shared Madapura M. PradeepaiD· 2 shared Matías G. De Vas· 2 shared

Activity by Year

2019-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Katrin LampeORCID

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2 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

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