Genomes and Genes
Eric M Morrow
Affiliation: Brown University
- Clinical characteristics of children with autism spectrum disorder and co-occurring epilepsyEmma W Viscidi
Department of Epidemiology, Division of Biology and Medicine, Brown University, Providence, Rhode Island, United States of America
PLoS ONE 8:e67797. 2013..To estimate the prevalence of epilepsy in children with Autism Spectrum Disorder (ASD) and to determine the demographic and clinical characteristics of children with ASD and epilepsy in a large patient population...
- DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autismDerek Aguiar
Department of Computer Science, Center for Computational Molecular Biology, Brown University, Providence, RI, USA
Bioinformatics 28:i154-62. 2012..Identifying the genetic heterogeneity of small deletions remains a major unresolved computational problem partly due to the inability of algorithms to detect them...
- Lighting a path: genetic studies pinpoint neurodevelopmental mechanisms in autism and related disordersMatthew F Pescosolido
Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, RI 02912, USA
Dialogues Clin Neurosci 14:239-52. 2012..While there are many genetic mutations involved, novel treatments may need to target only one of few developmental mechanisms...
- Common genetic variants, acting additively, are a major source of risk for autismLambertus Klei
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA
Mol Autism 3:9. 2012..abstract:..
- Genomic copy number variation in disorders of cognitive developmentEric M Morrow
Brown University and Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, Providence, RI, USA
J Am Acad Child Adolesc Psychiatry 49:1091-104. 2010..To emphasize new principles emerging from this area, involving the genetic architecture of disease, pathophysiology, and diagnosis...
- Intellectual disability is associated with increased runs of homozygosity in simplex autismEce D Gamsiz
Laboratory for Molecular Medicine, Department of Molecular Biology, Cell Biology, and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02912, USA
Am J Hum Genet 93:103-9. 2013..In summary, our data suggest a distinct genetic architecture for participants with autism and co-occurring intellectual disability and that this architecture could involve a role for recessively inherited loci for this autism subgroup. ..
- Distribution of disease-associated copy number variants across distinct disorders of cognitive developmentMatthew F Pescosolido
Institute for Brain Science at Brown University, Providence, RI 02912, USA
J Am Acad Child Adolesc Psychiatry 52:414-430.e14. 2013..We also sought to identify gene mechanisms common to groups of diagnoses and/or specific to a given diagnosis based on associations with CNVs...
- An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytomaHassan M Minhas
Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital, The Warren Alpert Medical School of Brown University, Providence, RI 02912, USA
Am J Med Genet A 161:787-91. 2013..Together these data support a role for NTM and OPCML in developmental delay and potentially in cancer susceptibility...
- Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit developmentQing Ouyang
Departments of Molecular Biology, Cell Biology and Biochemistry and Institute for Brain Science, Brown University, Laboratory for Molecular Medicine, 70 Ship Street, Providence, RI 02903, USA
Neuron 80:97-112. 2013..Finally, exogenous BDNF rescues defects in neuronal arborization. We propose that NHE6 mutation leads to circuit defects that are in part due to impoverished neuronal arborization that may be treatable by enhanced TrkB signaling...
- A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 geneElvera Sofos
Alpert Medical School of Brown University, Providence, Rhode Island, USA
Am J Med Genet A 158:50-8. 2012..2000]. This three-generation pedigree outlines features of a novel microduplication syndrome...