Author

Janet Hong Yeow Hua

Ministry of Health

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Genetics· 1

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

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Jayne HoughtoniD· 1 shared Khalid HussainiD· 1 shared Matthew Neil WakelingiD· 1 shared Sarah Elizabeth FlanaganiD· 1 shared Sian EllardiD· 1 shared Thomas William LaveriD· 1 shared

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2018-2018 · peak 1/yr

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1 shared paperGenetics

Jayne HoughtonORCID

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1 paper

Recent·Most cited

GeneticsClinical EndocrinologyPeer-reviewedAug 23, 2018

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…·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.

9 citations

humanwhole-exome sequencing

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