Publications by authors named "Jayson Rodriguez"

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UBE2A-related X-linked intellectual disability.
Roger E Stevenson, Albert E Chudley, Anand K Srivastava, Jayson Rodriguez, Michael J Friez

Clin Dysmorphol· January 2019

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Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
Gustavo H Vieira, Jayson D Rodriguez, Paulina Carmona-Mora, Lei Cao, Bruno F Gamba

Eur J Hum Genet· February 2012

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome.
Gustavo H Vieira, Jayson D Rodriguez, Raquel Boy, Isaias Soares de Paiva, Barbara R DuPont

Am J Med Genet A· May 2011

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Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, Sydney Ladd, Nancy D Leslie

Am J Med Genet A· March 2010

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Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.
Ye Wu, Amy C Arai, Gavin Rumbaugh, Anand K Srivastava, Gillian Turner, Jayson Rodriguez

Proc Natl Acad Sci U S A· November 2007

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Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Patrick S Tarpey, F Lucy Raymond, Lam S Nguyen, Jayson Rodriguez, Anna Hackett

Nat Genet· September 2007

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Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor.
Patrick S Tarpey, F Lucy Raymond, Sarah O'Meara, Sarah Edkins, Jon Teague, Jayson Rodriguez

Am J Hum Genet· February 2007

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