Author

Khalid Hussain

Sidra Medical and Research CenterORCID 0000-0002-5480-7112Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2 Approach:experimental assay· 1 Approach:statistical model· 1

Frequent Co-Authors

Jayne HoughtoniD· 2 shared Matthew Neil WakelingiD· 2 shared Sarah Elizabeth FlanaganiD· 2 shared Thomas William LaveriD· 2 shared Ana Tangari Saredo· 1 shared Benjamin Bunce· 1 shared Daphne YauiD· 1 shared Dinesh GiriiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Jayne HoughtonORCID

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2 papers

Recent·Most cited

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the likely disruption of FOXA2

Thomas William Laver, Matthew Neil Wakeling, Richard C. Caswell, Benjamin Bunce, Daphne Yau, Jonna M. E. Männistö, Jayne Houghton, Jasmin J. Hopkins, Michael N. Weedon, Vrinda Saraff, Melanie Kershaw, Engela Magdalena Honey, Nuala Murphy, Dinesh Giri, Stuart Nath, , Sarah Elizabeth Flanagan

The paper identifies chromosome 20p11.2 deletions as a cause of congenital hyperinsulinism by disrupting FOXA2 expression in pancreatic beta-cells.

European Journal of Human Genetics · Apr 11, 2024Peer-reviewedGenetic & Genomic Medicine

Comprehensive screening shows that mutations in the known syndromic genes are rare in individuals presenting with hyperinsulinaemic hypoglycaemia

Thomas William Laver, Matthew Neil Wakeling, Janet Hong Yeow Hua, Jayne Houghton, Khalid Hussain, Sian Ellard, Sarah Elizabeth Flanagan

The paper screens for syndromic gene mutations in individuals with hyperinsulinaemic hypoglycaemia (HH) and finds a rare pathogenic variant in KMT2D associated with Kabuki syndrome.

Clinical Endocrinology · Aug 23, 2018Peer-reviewedGenetics