Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 8, 2015-08 ,pp. : 1796-1806

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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Molecular Syndromology, Vol. 8, Iss. 1, 2016-11 ,pp. : 24-29

Karger

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Alagille Syndrome: A New Missense Mutation Detected by Whole-Exome Sequencing in a Case Previously Found to Be Negative by DHPLC and MLPA

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Molecular Syndromology, Vol. 4, Iss. 4, 2013-02 ,pp. : 207-210

Karger

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Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 9, 2015-09 ,pp. : 2114-2121

John Wiley & Sons Inc

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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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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 4, 2015-04 ,pp. : 891-893

John Wiley & Sons Inc

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