Author

Munaza Ahmed

Great Ormond Street 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

Click to filter author papers

Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Organism:human· 3 Research Focus:differential expression· 2 Research Focus:gene regulatory network inference· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Research Focus:variant effect prediction· 2 Assay:whole-genome sequencing· 2 Approach:Bayesian inference· 1

Frequent Co-Authors

Carole Brewer· 3 shared Maria A. K. Bitner-GlindzicziD· 3 shared Ruth ArmstrongiD· 3 shared Siddharth BankaiD· 3 shared Agnieszka BierżyńskaiD· 2 shared Andrew C. BrowningiD· 2 shared Anthony Attwood· 2 shared Chiara Bacchelli· 2 shared

Activity by Year

2019-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

3 shared papersGenetics

Carole Brewer

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

GeneticsCirculation Genomic and Precision MedicinePeer-reviewedDec 15, 2020

Bayesian inference associates rare KDR variants with specific phenotypes in pulmonary arterial hypertension

Emilia M. Swietlik, Daniel J. Greene, Na Zhu…·Rachel J. Buchan

49 citationstop 4%

humanwhole-genome sequencing

𝕏 PostBluesky

GenomicsNaturePeer-reviewedJun 24, 2020

Whole-genome sequencing of rare disease patients in a national healthcare system

Ernest Turro, William J. Astle, Karyn Mégy…·Rachel J. Buchan

This study uses whole-genome sequencing in a national healthcare system to diagnose rare diseases and discover new aetiological variants, identifying 95 Mendelian associations and 4 novel non-coding disease-causing variants.

570 citationstop 1%

humanwhole-genome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 7, 2019

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald…·Neeti Ghali

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.

30 citations

humanwhole-exome sequencing

𝕏 PostBluesky