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John Wiley & Sons Inc

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De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome

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Karger

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Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis

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Oxford University Press

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Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation‐negative patient with clinically diagnosed Alagille syndrome

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John Wiley & Sons Inc

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Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencing

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John Wiley & Sons Inc

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