Exome sequencing: a transformative technology (Q28731354)

Early Diagnosis of Werner's Syndrome Using Exome-Wide Sequencing in a Single, Atypical Patient

Europe PubMed Central

title

Exome sequencing: a transformative technology (English)

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author name string

Andrew B Singleton

series ordinal

1

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language of work or name

English

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publication date

October 2011

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published in

Lancet Neurology

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volume

10

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page(s)

942-6

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issue

10

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cites work

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

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Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

17 March 2017

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

3 June 2018

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Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family

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TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing

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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

3 June 2018

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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

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Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome

3 June 2018

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Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82.

3 June 2018

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Exome sequencing makes medical genomics a reality

3 June 2018

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Exome sequencing identified MYO1E and NEIL1 as candidate genes for human autosomal recessive steroid-resistant nephrotic syndrome

3 June 2018

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De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

27 November 2018

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A mosaic activating mutation in AKT1 associated with the Proteus syndrome

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