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

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Genetics· 2 Genomics· 1

Signature Assays, Organisms & Methods

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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

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3 shared papersGenetics

Carole Brewer

Mutual co-authors in cluster

Author profile →

3 papers

Recent·Most cited

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

Emilia M. Swietlik, Daniel J. Greene, Na Zhu, Karyn Mégy, Marcella Cogliano, Smitha Rajaram, Divya Pandya, Tobias Tilly, Katie A. Lutz, Carrie L. Welch, Michael W. Pauciulo, Laura Southgate, Jennifer M. Martin, Carmen Treacy, Christopher J. Penkett, , Rachel J. Buchan

Circulation Genomic and Precision Medicine · Dec 15, 2020Peer-reviewedGenetics

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

Ernest Turro, William J. Astle, Karyn Mégy, Stefan Gräf, Daniel Greene, Olga Shamardina, Hana Lango Allen, Alba Sanchis‐Juan, Mattia Frontini, Chantal Thys, Jonathan C. Stephens, Rutendo P. Mapeta, Oliver S. Burren, Kate Downes, Matthias Haimel, , 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.

Nature · Jun 24, 2020Peer-reviewedGenomics

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

Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia A. Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, , 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%.

bioRxiv · Mar 7, 2019 · PreprintGenetics