Roger E Stevenson

发表

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.

11p14.1 microdeletions associated with ADHD, autism, developmental delay, and obesity

Ankita Patel, Marwan Shinawi, Ankita Patel, 2011, American journal of medical genetics. Part A.

AGTR2 Mutations in X-Linked Mental Retardation

R. Stevenson, C. Schwartz, A. Srivastava, 2002, Science.

Spermine synthase deficiency resulting in X-linked intellectual disability (Snyder-Robinson syndrome).

R. Stevenson, C. Schwartz, A. Pegg, 2011, Methods in molecular biology.

An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.

Emil Alexov, Kyoko Takano, Shawn Witham, 2012, Human molecular genetics.

Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders

Paola Visconti, Marcella Zollino, Luigi Boccuto, 2012, European Journal of Human Genetics.

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25

R. Stevenson, C. Schwartz, H. Lubs, 2000, Journal of medical genetics.

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Andrew Menzies, Sarah Edkins, Sara Widaa, 2009, Nature Genetics.

Decreased tryptophan metabolism in patients with autism spectrum disorders

Luigi Boccuto, C. Skinner, R. Stevenson, 2013, Molecular Autism.

Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.

Matthias Platzer, Alfons Meindl, R. Stevenson, 2004, American journal of human genetics.

Autism and macrocephaly

C. Skinner, R. Stevenson, R. Simensen, 1997, The Lancet.