Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

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Exome sequencing for paediatric-onset diseases: impact of the extensive involvement of medical geneticists in the diagnostic odyssey

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scientific article published on 06 August 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у 2018

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Exome sequencing for paediatri ...... ists in the diagnostic odyssey

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Brian Hy Chung

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Cheuk-Wing Fung

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Gary Tk Mok

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Gordon Kc Leung

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Kit San Yeung

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Ni-Chung Lee

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Rolph Pfundt

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So-Lun Lee

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Wanling Yang

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Yu-Lung Lau

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P2860

Genetic evidence supports demic diffusion of Han culture

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Exome sequencing as a tool for Mendelian disease gene discovery

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].

De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Molecular findings among patients referred for clinical whole-exome sequencing.

Exome sequencing can improve diagnosis and alter patient management.

Next-generation sequencing demands next-generation phenotyping.

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s41525-018-0056-5

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scholarly article

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10.1038/S41525-018-0056-5

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English

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Sophelia H S Chan

Christopher C Y Mak

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2018-08-06T00:00:00Z

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30109123

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diagnosis

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6079040

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