Coppola, Giovanni, Marmolino, Daniele, Lu, Daning, Wang, Qing, Cnop, Miriam, Rai, Myriam, ...
Friedreich’s ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus and life-threatening cardiomyopathy. Frataxin, which is significantly...
Association of common variants in the Joubert syndrome gene (AHI1) with autism (2008)
Alvarez Retuerto, Ana I., Cantor, Rita M., Gleeson, Joseph G., Ustaszewska, Anna, Schackwitz, Wendy S., Pennacchio, Len A., ...
It has been suggested that autism, like other complex genetic disorders, may benefit from the study of rare or Mendelian variants associated with syndromic or non-syndromic forms of the disease....
Kudo, Lili C., Karsten, Stanislav L., Chen, Ju, Levitt, Pat, Geschwind, Daniel H.
Intrinsic regulatory factors play critical roles in early cortical patterning, including the development of the anteroposterior (A-P) axis. To identify genes that are differentially expressed along...
Nishimura, Yuhei, Martin, Christa L., Vazquez-Lopez, Araceli, Spence, Sarah J., Alvarez-Retuerto, Ana Isabel, Sigman, Marian, ...
Autism is a heterogeneous condition that is likely to result from the combined effects of multiple genetic factors interacting with environmental factors. Given its complexity, the study of autism...
High density SNP association study of a major autism linkage region on chromosome 17 (2007)
Stone, Jennifer L., Merriman, Barry, Cantor, Rita M., Geschwind, Daniel H., Nelson, Stanley F.
A region on chromosome 17 has recently been highlighted as linked to autism (MIM[209850]) in multiple studies and evidence has accumulated suggesting that male-only families (those families that have...
High density SNP association study of a major autism linkage region on chromosome 17. (2007)
Stone, Jennifer L, Merriman, Barry, Cantor, Rita M, Geschwind, Daniel H, Nelson, Stanley F
High Density SNP Association Study of a Major Autism Linkage Region on Chromosome 17 (2007)
Stone, Jennifer L, Merriman, Barry, Cantor, Rita M, Geschwind, Daniel H, Nelson, Stanley F
A region on chromosome 17 has recently been highlighted as linked to autism (MIM[209850]) in multiple studies and evidence has accumulated suggesting that male-only families (those families that have...
Lobo, Mary Kay, Karsten, Stanislav L, Gray, Michelle, Geschwind, Daniel H, Yang, X William
A major challenge in systems neuroscience is to perform precise molecular genetic analyses of a single neuronal population in the context of the complex mammalian brain. Existing technologies for...
PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry (2006)
Groszer, Matthias, Erickson, Rebecca, Scripture-Adams, Dierdre D., Dougherty, Jospeh D., Le Belle, Janel, Zack, Jerome A., ...
Previous studies have demonstrated that a small subpopulation of brain tumor cells share key characteristics with neural stem/progenitor cells in terms of phenotype and behavior. These findings...
Kudo, Lili C., Karsten, Stanislav L., Chen, Ju, Levitt, Pat, Geschwind, Daniel H.
Intrinsic regulatory factors play critical roles in early cortical patterning, including the development of the anteroposterior (A-P) axis. To identify genes that are differentially expressed along...
Kudo, Lili C., Karsten, Stanislav L., Chen, Ju, Levitt, Pat, Geschwind, Daniel H.
Intrinsic regulatory factors play critical roles in early cortical patterning, including the development of the anteroposterior (A-P) axis. To identify genes that are differentially expressed along...
Evidence for sex-specific risk alleles in autism spectrum disorder (2004)
Stone, Jennifer L, Merriman, Barry, Cantor, Rita M, Yonan, Amanda L, Gilliam, T Conrad, Geschwind, Daniel H, ...
We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan...
Cancerous stem cells can arise from pediatric brain tumors (2003)
Hemmati, Houman D., Nakano, Ichiro, Lazareff, Jorge A., Masterman-Smith, Michael, Geschwind, Daniel H., Bronner-Fraser, Marianne, ...
Pediatric brain tumors are significant causes of morbidity and mortality. It has been hypothesized that they derive from self-renewing multipotent neural stem cells. Here, we tested whether different...
Karsten, Stanislav L., Sabatti, Chiara, H. Gill, Lisa, Geschwind, Daniel H.
Archival formalin-fixed, paraffin-embedded and ethanol-fixed tissues represent a potentially invaluable resource for gene expression analysis, as they are the most widely available material for...
Dougherty, Joseph D., Geschwind, Daniel H.
The revolution in our knowledge about the genomes of organisms gives rise to the question, what do we do with this information? The development of techniques allowing high throughput analysis of RNA...
Beyond The Gene List: Using Bioinformatics To Make Sense Out Of Array Data 19 (2001)
Daniel H. Geschwind, Phd Joseph, D. Dougherty, Lili C. Kudo, Stanislav Karsten
2) What is a microarray? a) Experimental steps in a typical cDNA microarray experiment
Clark, Lorraine N., Poorkaj, Parvoneh, Wszolek, Zbigniew, Geschwind, Daniel H., Nasreddine, Ziad S., Miller, Bruce, ...
Pallido-ponto-nigral degeneration (PPND) is one of the most well characterized familial neurodegenerative disorders linked to chromosome 17q21–22. These hereditary disorders are known collectively...
From hematopoiesis to neuropoiesis: Evidence of overlapping genetic programs
Terskikh, Alexey V., Easterday, Mathew C., Li, Linheng, Hood, Leroy, Kornblum, Harley I., Geschwind, Daniel H., ...
It is reasonable to propose that gene expression profiles of purified stem cells could give clues for the molecular mechanisms of stem cell behavior. We took advantage of cDNA subtraction to identify...
Karsten, Stanislav L., Sabatti, Chiara, Gill, Lisa H., Geschwind, Daniel H.
Archival formalin-fixed, paraffin-embedded and ethanol-fixed tissues represent a potentially invaluable resource for gene expression analysis, as they are the most widely available material for...
Geschwind, Daniel H., Miller, Bruce L., DeCarli, Charles, Carmelli, Dorit
Although the left and right human cerebral hemispheres differ both functionally and anatomically, little is known about the environmental or genetic factors that govern central nervous system...
Elevated gene expression levels distinguish human from non-human primate brains
Cáceres, Mario, Lachuer, Joel, Zapala, Matthew A., Redmond, John C., Kudo, Lili, Geschwind, Daniel H., ...
Little is known about how the human brain differs from that of our closest relatives. To investigate the genetic basis of human specializations in brain organization and cognition, we compared gene...
Cancerous stem cells can arise from pediatric brain tumors
Hemmati, Houman D., Nakano, Ichiro, Lazareff, Jorge A., Masterman-Smith, Michael, Geschwind, Daniel H., Bronner-Fraser, Marianne, ...
Pediatric brain tumors are significant causes of morbidity and mortality. It has been hypothesized that they derive from self-renewing multipotent neural stem cells. Here, we tested whether different...
Geschwind, Daniel H., Sowinski, Janice, Lord, Catherine, Iversen, Portia, Shestack, Jonathan, Jones, Patrick, ...
PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry
Groszer, Matthias, Erickson, Rebecca, Scripture-Adams, Deirdre D., Dougherty, Joseph D., Le Belle, Janel, Zack, Jerome A., ...
Previous studies have demonstrated that a small subpopulation of brain tumor cells share key characteristics with neural stem/progenitor cells in terms of phenotype and behavior. These findings...
Clark, Lorraine N., Poorkaj, Parvoneh, Wszolek, Zbigniew, Geschwind, Daniel H., Nasreddine, Ziad S., Miller, Bruce, ...
Pallido-ponto-nigral degeneration (PPND) is one of the most well characterized familial neurodegenerative disorders linked to chromosome 17q21–22. These hereditary disorders are known collectively...
From hematopoiesis to neuropoiesis: Evidence of overlapping genetic programs
Terskikh, Alexey V., Easterday, Mathew C., Li, Linheng, Hood, Leroy, Kornblum, Harley I., Geschwind, Daniel H., ...
It is reasonable to propose that gene expression profiles of purified stem cells could give clues for the molecular mechanisms of stem cell behavior. We took advantage of cDNA subtraction to identify...
Karsten, Stanislav L., Sabatti, Chiara, Gill, Lisa H., Geschwind, Daniel H.
Archival formalin-fixed, paraffin-embedded and ethanol-fixed tissues represent a potentially invaluable resource for gene expression analysis, as they are the most widely available material for...
Geschwind, Daniel H., Miller, Bruce L., DeCarli, Charles, Carmelli, Dorit
Although the left and right human cerebral hemispheres differ both functionally and anatomically, little is known about the environmental or genetic factors that govern central nervous system...
Elevated gene expression levels distinguish human from non-human primate brains
Cáceres, Mario, Lachuer, Joel, Zapala, Matthew A., Redmond, John C., Kudo, Lili, Geschwind, Daniel H., ...
Little is known about how the human brain differs from that of our closest relatives. To investigate the genetic basis of human specializations in brain organization and cognition, we compared gene...
Cancerous stem cells can arise from pediatric brain tumors
Hemmati, Houman D., Nakano, Ichiro, Lazareff, Jorge A., Masterman-Smith, Michael, Geschwind, Daniel H., Bronner-Fraser, Marianne, ...
Pediatric brain tumors are significant causes of morbidity and mortality. It has been hypothesized that they derive from self-renewing multipotent neural stem cells. Here, we tested whether different...
Evidence for a Language Quantitative Trait Locus on Chromosome 7q in Multiplex Autism Families
Alarcón, Maricela, Cantor, Rita M., Liu, Jianjun, Gilliam, T. Conrad, Geschwind, Daniel H.
Autism is a syndrome characterized by deficits in language and social skills and by repetitive behaviors. We hypothesized that potential quantitative trait loci (QTLs) related to component autism...
A Genomewide Screen of 345 Families for Autism-Susceptibility Loci
Yonan, Amanda L., Alarcón, Maricela, Cheng, Rong, Magnusson, Patrik K. E., Spence, Sarah J., Palmer, Abraham A., ...
We previously reported a genomewide scan to identify autism-susceptibility loci in 110 multiplex families, showing suggestive evidence (P < .01) for linkage to autism-spectrum disorders (ASD) on...
Evidence for Sex-Specific Risk Alleles in Autism Spectrum Disorder
Stone, Jennifer L., Merriman, Barry, Cantor, Rita M., Yonan, Amanda L., Gilliam, T. Conrad, Geschwind, Daniel H., ...
We investigated the genetic aspects of the large sex bias in the prevalence of autism spectrum disorder by monitoring changes in linkage when the family set for an affected sibling pair genome scan...
Replication of Autism Linkage: Fine-Mapping Peak at 17q21
Cantor, Rita M., Kono, Naoko, Duvall, Jackie A., Alvarez-Retuerto, Ana, Stone, Jennifer L., Alarcón, Maricela, ...
Autism is a heritable but genetically complex disorder characterized by deficits in language and in reciprocal social interactions, combined with repetitive and stereotypic behaviors. As with many...
Geschwind, Daniel H., Sowinski, Janice, Lord, Catherine, Iversen, Portia, Shestack, Jonathan, Jones, Patrick, ...
PTEN negatively regulates neural stem cell self-renewal by modulating G0-G1 cell cycle entry
Groszer, Matthias, Erickson, Rebecca, Scripture-Adams, Deirdre D., Dougherty, Joseph D., Le Belle, Janel, Zack, Jerome A., ...
Previous studies have demonstrated that a small subpopulation of brain tumor cells share key characteristics with neural stem/progenitor cells in terms of phenotype and behavior. These findings...
Conservation and evolution of gene coexpression networks in human and chimpanzee brains
Oldham, Michael C., Horvath, Steve, Geschwind, Daniel H.
Comparisons of gene expression between human and non-human primate brains have identified hundreds of differentially expressed genes, yet translating these lists into key functional distinctions...
Microarrays and the microscope: balancing throughput with resolution
Coppola, Giovanni, Geschwind, Daniel H
The cellular complexity of the brain is a major issue in the planning, execution and interpretation of microarray studies. Recent technical advances allow for high-throughput study of specific cell...
A unified genetic theory for sporadic and inherited autism
Zhao, Xiaoyue, Leotta, Anthony, Kustanovich, Vlad, Lajonchere, Clara, Geschwind, Daniel H., Law, Kiely, ...
Autism is among the most clearly genetically determined of all cognitive-developmental disorders, with males affected more often than females. We have analyzed autism risk in multiplex families from...
Out FOXing Parkinson Disease: Where Development Meets Neurodegeneration
Wexler, Eric M, Geschwind, Daniel H
The central survival role of FOX proteins may allow a unified view of the genetic and environmental factors that cause Parkinson disease.
Nakano, Ichiro, Paucar, Andres A., Bajpai, Ruchi, Dougherty, Joseph D., Zewail, Amani, Kelly, Theresa K., ...
Maternal embryonic leucine zipper kinase (MELK) was previously identified in a screen for genes enriched in neural progenitors. Here, we demonstrate expression of MELK by progenitors in developing...
HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model
Rai, Myriam, Soragni, Elisabetta, Jenssen, Kai, Burnett, Ryan, Herman, David, Coppola, Giovanni, ...
Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene
Alarcón, Maricela, Abrahams, Brett S., Stone, Jennifer L., Duvall, Jacqueline A., Perederiy, Julia V., Bomar, Jamee M., ...
Autism is a genetically complex neurodevelopmental syndrome in which language deficits are a core feature. We describe results from two complimentary approaches used to identify risk variants on...
Bakkaloglu, Betul, O'Roak, Brian J., Louvi, Angeliki, Gupta, Abha R., Abelson, Jesse F., Morgan, Thomas M., ...
Autism spectrum disorders (ASD) are a group of related neurodevelopmental syndromes with complex genetic etiology.1 We identified a de novo chromosome 7q inversion disrupting Autism susceptibility...
Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis
Rutherford, Nicola J., Zhang, Yong-Jie, Baker, Matt, Gass, Jennifer M., Finch, NiCole A., Xu, Ya-Fei, ...
The TAR DNA-binding protein 43 (TDP-43) has been identified as the major disease protein in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin inclusions...
ATF4 is an oxidative stress–inducible, prodeath transcription factor in neurons in vitro and in vivo
Lange, Philipp S., Chavez, Juan C., Pinto, John T., Coppola, Giovanni, Sun, Chiao-Wang, Townes, Tim M., ...
Oxidative stress is pathogenic in neurological diseases, including stroke. The identity of oxidative stress–inducible transcription factors and their role in propagating the death cascade are not...
Kelly, Theresa K., Karsten, Stanislav L., Geschwind, Daniel H., Kornblum, Harley I.
Neural stem cells (NSCs) can be isolated from different regions of the central nervous system. There has been controversy whether regional differences amongst stem and progenitor cells are cell...
Association and Mutation Analyses of 16p11.2 Autism Candidate Genes
Kumar, Ravinesh A., Marshall, Christian R., Badner, Judith A., Babatz, Timothy D., Mukamel, Zohar, Aldinger, Kimberly A., ...
Thomas, Elizabeth A., Coppola, Giovanni, Desplats, Paula A., Tang, Bin, Soragni, Elisabetta, Burnett, Ryan, ...
Transcriptional dysregulation has emerged as a core pathologic feature of Huntington's disease (HD), one of several triplet-repeat disorders characterized by movement deficits and cognitive...
Coppola, Giovanni, Marmolino, Daniele, Lu, Daning, Wang, Qing, Cnop, Miriam, Rai, Myriam, ...
Friedreich’s ataxia (FRDA), the most common inherited ataxia, is characterized by focal neurodegeneration, diabetes mellitus and life-threatening cardiomyopathy. Frataxin, which is significantly...
Bucan, Maja, Abrahams, Brett S., Wang, Kai, Glessner, Joseph T., Herman, Edward I., Sonnenblick, Lisa I., ...
The genetics underlying the autism spectrum disorders (ASDs) is complex and remains poorly understood. Previous work has demonstrated an important role for structural variation in a subset of cases,...
The organization of the transcriptional network in specific neuronal classes
Winden, Kellen D, Oldham, Michael C, Mirnics, Karoly, Ebert, Philip J, Swan, Christo H, Levitt, Pat, ...
Genome-wide expression profiling has aided the understanding of the molecular basis of neuronal diversity, but achieving broad functional insight remains a considerable challenge. Here, we perform...
Birdsong Decreases Protein Levels of FoxP2, a Molecule Required for Human Speech
Miller, Julie E., Spiteri, Elizabeth, Condro, Michael C., Dosumu-Johnson, Ryan T., Geschwind, Daniel H., White, Stephanie A.
Cognitive and motor deficits associated with language and speech are seen in humans harboring FOXP2 mutations. The neural bases for FOXP2 mutation-related deficits are thought to reside in structural...