Research Topics
Species | M W StateSummaryAffiliation: Yale University Country: USA Publications
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Detail Information
Publications
Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patientsM W State
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
J Am Acad Child Adolesc Psychiatry 38:329-34. 1999..To compare obsessive-compulsive (OC) symptoms in patients with Prader-Willi syndrome (PWS) and symptoms in a group of patients presenting with "Prader-Willi-like" features but without the genetic abnormalities associated with PWS...
The genetics of Tourette disorderMatthew W State
Department of Child Psychiatry, Yale University School of Medicine, New Haven, CT 06520, United States
Curr Opin Genet Dev 21:302-9. 2011..Finally, analysis of a cohort of sufficient size to identify common polymorphisms of plausible effect is underway, promising key information regarding the contribution of common alleles to TD...
The genetics of child psychiatric disorders: focus on autism and Tourette syndromeMatthew W State
Department of Child Psychiatry, Yale University School of Medicine, New Haven, CT 06510, USA
Neuron 68:254-69. 2010....
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndromeThomas Fernandez
Am J Hum Genet 82:1385. 2008
A surprising METamorphosis: autism genetics finds a common functional variantMatthew W State
Program on Neurogenetics, Departments of Child Psychiatry and Genetics, Yale University School of Medicine, 230 South Frontage Road, New Haven, CT 06520, USA
Proc Natl Acad Sci U S A 103:16621-2. 2006
The conundrums of understanding genetic risks for autism spectrum disordersMatthew W State
Program on Neurogenetics, Departments of Child Psychiatry, Psychiatry and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA
Nat Neurosci 14:1499-506. 2011....
Epigenetic abnormalities associated with a chromosome 18(q21-q22) inversion and a Gilles de la Tourette syndrome phenotypeMatthew W State
Child Study Center and Department of Genetics, Yale University School of Medicine, New Haven, CT 06511, USA
Proc Natl Acad Sci U S A 100:4684-9. 2003....
Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndromeThomas Fernandez
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 74:1286-93. 2004..Our results demonstrate the association of CNTN4 disruption with the 3p deletion syndrome phenotype and strongly suggest a causal relationship. These findings point to an important role for CNTN4 in normal and abnormal CNS development...
Tourette's syndrome and related disordersM W State
Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA
Child Adolesc Psychiatr Clin N Am 10:317-31, ix. 2001..Because it may be easier to influence the environment and behavior rather than to change genes, exploration of such gene-environment interactions may lead to the most significant clinical contributions in the near term...
Autism genetics: strategies, challenges, and opportunitiesBrian J O'Roak
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
Autism Res 1:4-17. 2008..Finally, we describe key advances in genomic technologies that are transforming all areas of human genetics and consider both the opportunities and challenges for autism research posed by these rapid changes...
A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family groupFatih Bayrakli
Department of Neurosurgery, Van Military Hospital, Van, Turkey
J Clin Neurosci 16:1610-4. 2009..Our results support the notion that assessing copy number variation of the PAX6 gene itself and also of flanking regions, may contribute to the molecular diagnosis of aniridia...
Molecular characterization of a patient with 3p deletion syndrome and a review of the literatureThomas V Fernandez
Yale Child Study Center, Yale University School of Medicine, New Haven, Connecticut 06520 7900, USA
Am J Med Genet A 146:2746-52. 2008....
Identification, chromosomal assignment, and expression analysis of the human homeodomain-containing gene Orthopedia (OTP)X Lin
Child Study Center, Yale University School of Medicine, New Haven, Connecticut, 06520 7900, USA
Genomics 60:96-104. 1999..Expression in the developing human hypothalamus was confirmed by immunohistochemistry...
Sequence variants in SLITRK1 are associated with Tourette's syndromeJesse F Abelson
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Science 310:317-20. 2005..Wild-type SLITRK1, but not the frameshift mutant, enhanced dendritic growth in primary neuronal cultures. Collectively, these findings support the association of rare SLITRK1 sequence variants with TS...
L-histidine decarboxylase and Tourette's syndromeA Gulhan Ercan-Sencicek
Yale University School of Medicine, New Haven, CT 06520, USA
N Engl J Med 362:1901-8. 2010..Our findings, together with previously published data from model systems, point to a role for histaminergic neurotransmission in the mechanism and modulation of Tourette's syndrome and tics...
The genetics of autism: key issues, recent findings, and clinical implicationsPaul El-Fishawy
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Psychiatr Clin North Am 33:83-105. 2010..This article reviews the origins of the common versus rare variant debate, highlights recent findings in the field, and addresses the clinical implications of common and rare variant discoveries...
Rapid array-based genomic characterization of a subtle structural abnormality: a patient with psychosis and der(18)t(5;18)(p14.1;p11.23)Carolyn M Drazinic
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Med Genet A 134:282-9. 2005..While these methods do not eliminate the requirement for traditional fine-mapping, they provide an efficient approach to identifying the origin and extent of deleted and duplicated material in chromosomal rearrangements...
Progress in cytogenetics: implications for child psychopathologyEllen J Hoffman
Program on Neurogenetics, Child Study Center, and Yale University School of Medicine, New Haven, CT 06520 7900, USA
J Am Acad Child Adolesc Psychiatry 49:736-51; quiz 856-7. 2010....
Recent advances in the genetics of autismAbha R Gupta
Child Study Center, Yale University School of Medicine, New Haven, Connecticut, USA
Biol Psychiatry 61:429-37. 2007..In addition, promising avenues for future research and the potential contribution of emerging genomic technologies are considered...
[Autism: genetics]Abha R Gupta
Child Study Center, Yale University School of Medicine, New Haven, CT 06520, USA
Rev Bras Psiquiatr 28:S29-38. 2006..This paper will review the literature to date summarizing the results of linkage, cytogenetic, and candidate gene studies with a focus on recent progress. In addition, promising avenues for future research are considered...
Functional and evolutionary insights into human brain development through global transcriptome analysisMatthew B Johnson
Department of Neurobiology and Kavli Institute for Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA
Neuron 62:494-509. 2009..These data provide a wealth of biological insights into the complex transcriptional and molecular underpinnings of human brain development and evolution...
Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disordersBetul Bakkaloglu
Program on Neurogenetics, Department of Genetics, Yale University School of Medicine, New Haven, CT 06520, USA
Am J Hum Genet 82:165-73. 2008....
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophyLuis E Kolb
Department of Neurosurgery, Neurobiology, Program on Neurogenetics Yale University School of Medicine, New Haven, CT, USA
Neurogenetics 11:319-25. 2010..Discovery of disease causing homozygous deletions in the present Turkish family capable of maintaining bipedal movement exemplifies the phenotypic heterogeneity of VLDLR-associated cerebellar hypoplasia and ataxia...
Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndromeAlthea A Stillman
Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
J Comp Neurol 513:21-37. 2009....
Susceptibility loci for intracranial aneurysm in European and Japanese populationsKaya Bilguvar
Department of Neurosurgery, Neurobiology, Yale Center for Human Genetics and Genomics, Yale University School of Medicine, New Haven, CT 06510, USA
Nat Genet 40:1472-7. 2008..These findings have implications for the pathophysiology, diagnosis and therapy of intracranial aneurysm...
Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndromeWilliam C Speed
Department of Genetics, Yale University School of Medicine, New Haven, CT 06520 8005, USA
Am J Med Genet B Neuropsychiatr Genet 147:463-6. 2008..Although there is no evidence of selection, the haplotype frequency variation seen around the world will need to be considered in any future association studies of this locus with GTS or any other neuropsychiatric disorder...
Rapid identification of disease-causing mutations using copy number analysis within linkage intervalsFatih Bayrakli
Department of Neurosurgery, Yale University School of Medicine, New Haven, Connecticut 06510, USA
Hum Mutat 28:1236-40. 2007..Herein, we demonstrate the utility of this technique by rapidly identifying a disease causing microdeletion within the PARK2 gene in a family with autosomal recessive Parkinsonism...
Candidate locus for Gilles de la Tourette syndrome/obsessive compulsive disorder/chronic tic disorder at 18q22Adam Cuker
Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, Massachusetts, USA
Am J Med Genet A 130:37-9. 2004....
Research Grants
- The Role of SLITRK1 in Tourette and Related DisordersMatthew State; Fiscal Year: 2009..The purpose of this study is to better understand .what causes TD by identifying additional abnormalities in the SLITRK1 gene and by investigating the impact of these unusual genetic changes on the developing brain. ..
- The Role of SLITRK1 in Tourette and Related DisordersMatthew State; Fiscal Year: 2007..The purpose of this study is to better understand .what causes TD by identifying additional abnormalities in the SLITRK1 gene and by investigating the impact of these unusual genetic changes on the developing brain. ..
- MOLECULAR APPROACHES TO CHILDHOOD PSYCHIATRIC DISORDERSMatthew State; Fiscal Year: 2006..abstract_text> ..
- Molecular Cytogenetics and Tourette DisorderMatthew State; Fiscal Year: 2006..abstract_text> ..
- The Role of SLITRK1 in Tourette and Related DisordersMatthew W State; Fiscal Year: 2010..The purpose of this study is to better understand .what causes TD by identifying additional abnormalities in the SLITRK1 gene and by investigating the impact of these unusual genetic changes on the developing brain. ..
