A recurrent synonymous KAT6B mutation causes Say‐Barber‐Biesecker/Young‐Simpson syndrome by inducing aberrant splicing

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American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3006-3010

John Wiley & Sons Inc

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A novel truncating variant within exon 7 of KAT6B associated with features of both Say–Barber–Bieseker–Young–Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B‐related disorders

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American Journal Of Medical Genetics Part A, Vol. 176, Iss. 2, 2018-02 ,pp. : 455-459

John Wiley & Sons Inc

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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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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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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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