Jayson Rodriguez

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

Patrick Tarpey, F. Lucy Raymond, Lam Son Nguyen et al. · Nature Genetics · 2007 · 294 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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 Tarpey, F. Lucy Raymond, Sarah O’Meara et al. · The American Journal of Human Genetics · 2007 · 228 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Ye Wu, Amy Arai, Gavin Rumbaugh et al. · Proceedings of the National Academy of Sciences · 2007 · 126 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability

Lam Son Nguyen, Lachlan A. Jolly, Cheryl Shoubridge et al. · Molecular Psychiatry · 2011 · 126 citations · Full text

Life Sciences, Genetics, Molecular Biology +16

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

Gustavo Henrique Apolinário Vieira, Jayson Rodriguez, Paulina Carmona-Mora et al. · European Journal of Human Genetics · 2011 · 57 citations

Life Sciences, Molecular Genetics, Neurology +8