Author

Tahir Naeem Khan

Queen Mary University of LondonORCID 0000-0003-3096-8795Unclaimed 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

Genetic & Genomic MedicinemedRxivPreprintNov 14, 2022

Regulatory de novo mutations underlying intellectual disability

Matías G. De Vas, Fanny Boulet, Shweta S Joshi…·Santosh S. Atanur

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

DOI 10.1101/2022.11.14.22279410

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsbioRxivPreprintSep 8, 2019

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

Matías G. De Vas, Myles G. Garstang, Shweta S Joshi…·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.

DOI 10.1101/621029

humanwhole-genome sequencing

𝕏 PostBluesky