Jayson D. Rodriguez

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Tao Wang, Gavin Rumbaugh, Lilei Zhang, 2007, Proceedings of the National Academy of Sciences.

Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith–Magenis syndrome

Lei Cao, A. Srivastava, K. Walz, 2011, European Journal of Human Genetics.

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.

Andrew Menzies, Keiran Raine, Sarah Edkins, 2007, American journal of human genetics.

UBE2A-related X-linked intellectual disability

R. Stevenson, C. Schwartz, M. Friez, 2019, Clinical dysmorphology.

Intellectual disability, midface hypoplasia, facial hypotonia, and alport syndrome are associated with a deletion in Xq22.3

R. Stevenson, C. Schwartz, N. Leslie, 2010, American journal of medical genetics. Part A.

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

J. Gécz, M. Stratton, P. Futreal, 2007, Nature Genetics.

Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome

A. Srivastava, D. Moretti-Ferreira, B. Dupont, 2011, American journal of medical genetics. Part A.