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Soler-Alfonso, Claudia; Motil, Kathleen J; Turk, Catherine L et al. (2011) Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr 158:655-659.e2
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Boone, Philip M; Reiter, Russel J; Glaze, Daniel G et al. (2011) Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am J Med Genet A 155A:2024-7
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Sanchez-Valle, Amarilis; Pierpont, Mary Ella; Potocki, Lorraine (2011) The severe end of the spectrum: Hypoplastic left heart in Potocki-Lupski syndrome. Am J Med Genet A 155A:363-6
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Potocki, Lorraine; Bi, Weimin; Treadwell-Deering, Diane et al. (2007) Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 80:633-49
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Goldman, Alica M; Potocki, Lorraine; Walz, Katherina et al. (2006) Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. J Child Neurol 21:93-8
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Madduri, Niru; Peters, Sarika U; Voigt, Robert G et al. (2006) Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. J Dev Behav Pediatr 27:188-92
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Bi, Weimin; Saifi, G Mustafa; Shaw, Christine J et al. (2004) Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. Hum Genet 115:515-24
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Potocki, Lorraine; Shaw, Christine J; Stankiewicz, Pawel et al. (2003) Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med 5:430-4
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Smith, Ann C M; Gropman, Andrea L; Bailey-Wilson, Joan E et al. (2002) Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). Genet Med 4:118-25
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Liburd, N; Ghosh, M; Riazuddin, S et al. (2001) Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. Hum Genet 109:535-41
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