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Clinical and molecular characterization of patients with distal 11q deletions. Am J Hum Genet (1995) 1.17

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Pathologic features of the CHARGE association: support for involvement of the neural crest. Teratology (1985) 1.12

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Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome. J Med Genet (2008) 1.05

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Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet (2001) 1.00

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The adult phenotype in Costello syndrome. Am J Med Genet A (2005) 0.99

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Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization. Am J Med Genet (1990) 0.96

Report from the workshop on Pallister-Hall syndrome and related phenotypes. Am J Med Genet (1996) 0.96

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Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome. Am J Med Genet (1995) 0.93

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