Charles E Schwartz

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.

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.

Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a Marfanoid habitus.

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

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.

Peter Marynen, Rodney Scott, Patrick S Tarpey, 2008, American 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.

Disruption at the Ptchd1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability Nih Public Access

Chi-Chung Hui, Andre Franke, Geraldine Dawson, 2010 .

A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation.

Emil Alexov, Michael Tiemeyer, Kazuhiro Aoki, 2014, Human molecular 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.

Multilocus loss of DNA methylation in individuals with mutations in the histone H3 Lysine 4 Demethylase KDM5C

Andrei L. Turinsky, Yi-An Chen, Rosanna Weksberg, 2013, BMC Medical Genomics.

Microarray data integration for genome-wide analysis of human tissue-selective gene expression

Liangjiang Wang, Liangjiang Wang, C. Schwartz, 2010, BMC Genomics.

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.

Y65C Missense Mutation in the WW Domain of the Golabi-Ito-Hall Syndrome Protein PQBP1 Affects Its Binding Activity and Deregulates Pre-mRNA Splicing*

Annalisa Pastore, Rudolf Volkmer, Marius Sudol, 2010, The Journal of Biological Chemistry.

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.

Further evidence that the rs1858830 C variant in the promoter region of the MET gene is associated with autistic disorder

Luigi Boccuto, C. Skinner, G. Neri, 2009, Autism research : official journal of the International Society for Autism Research.

Detecting polymorphisms and mutations in candidate genes.

C. Schwartz, J. S. Collins, Charles E Schwartz, 2002, American journal of human genetics.

MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling

C. Schwartz, M. Friez, N. Kim, 2012, Proceedings of the National Academy of Sciences.

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Deborah A Nickerson, Gregory M Cooper, Carl Baker, 2009, Genome research.

Computational analysis of missense mutations causing Snyder‐Robinson syndrome

Zhe Zhang, Emil Alexov, Liangjiang Wang, 2010, Human mutation.