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Andrew E. Fry

Researcher at University Hospital of Wales

Publications -  63
Citations -  3143

Andrew E. Fry is an academic researcher from University Hospital of Wales. The author has contributed to research in topics: Exome sequencing & Population. The author has an hindex of 25, co-authored 59 publications receiving 2567 citations. Previous affiliations of Andrew E. Fry include Cardiff and Vale University Health Board & Conwy & Denbighshire NHS Trust.

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Genome-wide and fine-resolution association analysis of malaria in West Africa

Muminatou Jallow, +90 more
- 01 Jun 2009 - 
TL;DR: These findings provide proof of principle that fine-resolution multipoint imputation, based on population-specific sequencing data, can substantially boost authentic GWA signals and enable fine mapping of causal variants in African populations.
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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Fadi F. Hamdan, +119 more
TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

TL;DR: The results confirm that trio-based exome sequencing is a powerful approach to discover genes causing sporadic developmental disorders, emphasize the overlapping roles of cytoplasmic actin proteins in development and suggest that Baraitser-Winter syndrome is the predominant phenotype associated with mutation of these two genes.
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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

TL;DR: The largest yet reported cohort of 116 patients with Kabuki syndrome is presented, and the analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested.