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Showing 1 to 12 of 12 entries
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Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins.

Molecular autism

Werling DM, Geschwind DH.
PMID: 25973164
Mol Autism. 2015 May 13;6:27. doi: 10.1186/s13229-015-0004-5. eCollection 2015.

BACKGROUND: Autism spectrum disorders (ASDs) are more prevalent in males, suggesting a multiple threshold liability model in which females are, on average, protected by sex-differential mechanisms. Under this model, autistic females are predicted to carry a more penetrant risk...

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Werling DM, Geschwind DH. Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Mol Autism. 2015;6:27doi: 10.1186/s13229-015-0004-5.
Werling, D. M., & Geschwind, D. H. (2015). Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Molecular autism, 627. https://doi.org/10.1186/s13229-015-0004-5
Werling, Donna M, and Geschwind, Daniel H. "Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins." Molecular autism vol. 6 (2015): 27. doi: https://doi.org/10.1186/s13229-015-0004-5
Werling DM, Geschwind DH. Recurrence rates provide evidence for sex-differential, familial genetic liability for autism spectrum disorders in multiplex families and twins. Mol Autism. 2015 May 13;6:27. doi: 10.1186/s13229-015-0004-5. eCollection 2015. PMID: 25973164; PMCID: PMC4429923.
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Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism.

Nature communications

Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE.
PMID: 25494366
Nat Commun. 2014 Dec 10;5:5748. doi: 10.1038/ncomms6748.

Recent studies of genomic variation associated with autism have suggested the existence of extreme heterogeneity. Large-scale transcriptomics should complement these results to identify core molecular pathways underlying autism. Here we report results from a large-scale RNA sequencing effort, utilizing...

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Gupta S, Ellis SE, Ashar FN, et al. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat Commun. 2014;5:5748doi: 10.1038/ncomms6748.
Gupta, S., Ellis, S. E., Ashar, F. N., Moes, A., Bader, J. S., Zhan, J., West, A. B., & Arking, D. E. (2014). Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nature communications, 55748. https://doi.org/10.1038/ncomms6748
Gupta, Simone, et al. "Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism." Nature communications vol. 5 (2014): 5748. doi: https://doi.org/10.1038/ncomms6748
Gupta S, Ellis SE, Ashar FN, Moes A, Bader JS, Zhan J, West AB, Arking DE. Transcriptome analysis reveals dysregulation of innate immune response genes and neuronal activity-dependent genes in autism. Nat Commun. 2014 Dec 10;5:5748. doi: 10.1038/ncomms6748. PMID: 25494366; PMCID: PMC4270294.
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Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder.

Molecular autism

Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH.
PMID: 24533643
Mol Autism. 2014 Feb 17;5(1):13. doi: 10.1186/2040-2392-5-13.

BACKGROUND: Autism spectrum disorders (ASDs) are male-biased and genetically heterogeneous. While sequencing of sporadic cases has identified de novo risk variants, the heritable genetic contribution and mechanisms driving the male bias are less understood. Here, we aimed to identify...

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Werling DM, Lowe JK, Luo R, et al. Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol Autism. 2014;5(1):13doi: 10.1186/2040-2392-5-13.
Werling, D. M., Lowe, J. K., Luo, R., Cantor, R. M., & Geschwind, D. H. (2014). Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Molecular autism, 5(1), 13. https://doi.org/10.1186/2040-2392-5-13
Werling, Donna M, et al. "Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder." Molecular autism vol. 5,1 (2014): 13. doi: https://doi.org/10.1186/2040-2392-5-13
Werling DM, Lowe JK, Luo R, Cantor RM, Geschwind DH. Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. Mol Autism. 2014 Feb 17;5(1):13. doi: 10.1186/2040-2392-5-13. PMID: 24533643; PMCID: PMC3942516.
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Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome.

Genome medicine

Tian Y, Voineagu I, Paşca SP, Won H, Chandran V, Horvath S, Dolmetsch RE, Geschwind DH.
PMID: 25360157
Genome Med. 2014 Oct 10;6(10):75. doi: 10.1186/s13073-014-0075-5. eCollection 2014.

BACKGROUND: Common genetic variation and rare mutations in genes encoding calcium channel subunits have pleiotropic effects on risk for multiple neuropsychiatric disorders, including autism spectrum disorder (ASD) and schizophrenia. To gain further mechanistic insights by extending previous gene expression...

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Tian Y, Voineagu I, Paşca SP, et al. Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome. Genome Med. 2014;6(10):75doi: 10.1186/s13073-014-0075-5.
Tian, Y., Voineagu, I., Paşca, S. P., Won, H., Chandran, V., Horvath, S., Dolmetsch, R. E., & Geschwind, D. H. (2014). Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome. Genome medicine, 6(10), 75. https://doi.org/10.1186/s13073-014-0075-5
Tian, Yuan, et al. "Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome." Genome medicine vol. 6,10 (2014): 75. doi: https://doi.org/10.1186/s13073-014-0075-5
Tian Y, Voineagu I, Paşca SP, Won H, Chandran V, Horvath S, Dolmetsch RE, Geschwind DH. Alteration in basal and depolarization induced transcriptional network in iPSC derived neurons from Timothy syndrome. Genome Med. 2014 Oct 10;6(10):75. doi: 10.1186/s13073-014-0075-5. eCollection 2014. PMID: 25360157; PMCID: PMC4213483.
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A framework for the investigation of rare genetic disorders in neuropsychiatry.

Nature medicine

Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE.
PMID: 31548702
Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23.

De novo and inherited rare genetic disorders (RGDs) are a major cause of human morbidity, frequently involving neuropsychiatric symptoms. Recent advances in genomic technologies and data sharing have revolutionized the identification and diagnosis of RGDs, presenting an opportunity to...

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Sanders SJ, Sahin M, Hostyk J, et al. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019;25(10):1477-1487doi: 10.1038/s41591-019-0581-5.
Sanders, S. J., Sahin, M., Hostyk, J., Thurm, A., Jacquemont, S., Avillach, P., Douard, E., Martin, C. L., Modi, M. E., Moreno-De-Luca, A., Raznahan, A., Anticevic, A., Dolmetsch, R., Feng, G., Geschwind, D. H., Glahn, D. C., Goldstein, D. B., Ledbetter, D. H., Mulle, J. G., Pasca, S. P., Samaco, R., Sebat, J., Pariser, A., Lehner, T., Gur, R. E., & Bearden, C. E. (2019). A framework for the investigation of rare genetic disorders in neuropsychiatry. Nature medicine, 25(10), 1477-1487. https://doi.org/10.1038/s41591-019-0581-5
Sanders, Stephan J, et al. "A framework for the investigation of rare genetic disorders in neuropsychiatry." Nature medicine vol. 25,10 (2019): 1477-1487. doi: https://doi.org/10.1038/s41591-019-0581-5
Sanders SJ, Sahin M, Hostyk J, Thurm A, Jacquemont S, Avillach P, Douard E, Martin CL, Modi ME, Moreno-De-Luca A, Raznahan A, Anticevic A, Dolmetsch R, Feng G, Geschwind DH, Glahn DC, Goldstein DB, Ledbetter DH, Mulle JG, Pasca SP, Samaco R, Sebat J, Pariser A, Lehner T, Gur RE, Bearden CE. A framework for the investigation of rare genetic disorders in neuropsychiatry. Nat Med. 2019 Oct;25(10):1477-1487. doi: 10.1038/s41591-019-0581-5. Epub 2019 Sep 23. PMID: 31548702; PMCID: PMC8656349.
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Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders.

Frontiers in genetics

Kopp N, Climer S, Dougherty JD.
PMID: 26500678
Front Genet. 2015 Oct 07;6:301. doi: 10.3389/fgene.2015.00301. eCollection 2015.

The substantial progress in the last few years toward uncovering genetic causes and risk factors for autism spectrum disorders (ASDs) has opened new experimental avenues for identifying the underlying neurobiological mechanism of the condition. The bounty of genetic findings...

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Kopp N, Climer S, Dougherty JD. Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Front Genet. 2015;6:301doi: 10.3389/fgene.2015.00301.
Kopp, N., Climer, S., & Dougherty, J. D. (2015). Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Frontiers in genetics, 6301. https://doi.org/10.3389/fgene.2015.00301
Kopp, Nathan, et al. "Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders." Frontiers in genetics vol. 6 (2015): 301. doi: https://doi.org/10.3389/fgene.2015.00301
Kopp N, Climer S, Dougherty JD. Moving from capstones toward cornerstones: successes and challenges in applying systems biology to identify mechanisms of autism spectrum disorders. Front Genet. 2015 Oct 07;6:301. doi: 10.3389/fgene.2015.00301. eCollection 2015. PMID: 26500678; PMCID: PMC4595802.
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Systems biology in the central nervous system: a brief perspective on essential recent advancements.

Current opinion in systems biology

Dougherty JD, Yang C, Lake AM.
PMID: 29057378
Curr Opin Syst Biol. 2017 Jun;3:67-76. doi: 10.1016/j.coisb.2017.04.011. Epub 2017 Apr 27.

As recent advances in human genetics have begun to more rapidly identify the individual genes contributing to risk of psychiatric disease, the spotlight now turns to understanding how disruption of these genes alters the brain, and thus behavior. Compared...

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Dougherty JD, Yang C, Lake AM. Systems biology in the central nervous system: a brief perspective on essential recent advancements. Curr Opin Syst Biol. 2017;3:67-76doi: 10.1016/j.coisb.2017.04.011.
Dougherty, J. D., Yang, C., & Lake, A. M. (2017). Systems biology in the central nervous system: a brief perspective on essential recent advancements. Current opinion in systems biology, 367-76. https://doi.org/10.1016/j.coisb.2017.04.011
Dougherty, Joseph D, et al. "Systems biology in the central nervous system: a brief perspective on essential recent advancements." Current opinion in systems biology vol. 3 (2017): 67-76. doi: https://doi.org/10.1016/j.coisb.2017.04.011
Dougherty JD, Yang C, Lake AM. Systems biology in the central nervous system: a brief perspective on essential recent advancements. Curr Opin Syst Biol. 2017 Jun;3:67-76. doi: 10.1016/j.coisb.2017.04.011. Epub 2017 Apr 27. PMID: 29057378; PMCID: PMC5648337.
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Gene hunting in autism spectrum disorder: on the path to precision medicine.

The Lancet. Neurology

Geschwind DH, State MW.
PMID: 25891009
Lancet Neurol. 2015 Nov;14(11):1109-20. doi: 10.1016/S1474-4422(15)00044-7. Epub 2015 Apr 16.

Autism spectrum disorder is typical of the majority of neuropsychiatric syndromes in that it is defined by signs and symptoms, rather than by aetiology. Not surprisingly, the causes of this complex human condition are manifold and include a substantial...

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Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 2015;14(11):1109-20doi: 10.1016/S1474-4422(15)00044-7.
Geschwind, D. H., & State, M. W. (2015). Gene hunting in autism spectrum disorder: on the path to precision medicine. The Lancet. Neurology, 14(11), 1109-20. https://doi.org/10.1016/S1474-4422(15)00044-7
Geschwind, Daniel H, and State, Matthew W. "Gene hunting in autism spectrum disorder: on the path to precision medicine." The Lancet. Neurology vol. 14,11 (2015): 1109-20. doi: https://doi.org/10.1016/S1474-4422(15)00044-7
Geschwind DH, State MW. Gene hunting in autism spectrum disorder: on the path to precision medicine. Lancet Neurol. 2015 Nov;14(11):1109-20. doi: 10.1016/S1474-4422(15)00044-7. Epub 2015 Apr 16. PMID: 25891009; PMCID: PMC4694565.
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Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders.

Molecular autism

Ouwenga RL, Dougherty J.
PMID: 25789151
Mol Autism. 2015 Mar 11;6:16. doi: 10.1186/s13229-015-0008-1. eCollection 2015.

BACKGROUND: Many studies have demonstrated a robust statistical overlap between genes whose transcripts are reported as Fragile X Mental Retardation Protein (Fmrp)-binding targets and genes implicated in various psychiatric disorders, including autism. However, it is not clear how to...

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Ouwenga RL, Dougherty J. Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders. Mol Autism. 2015;6:16doi: 10.1186/s13229-015-0008-1.
Ouwenga, R. L., & Dougherty, J. (2015). Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders. Molecular autism, 616. https://doi.org/10.1186/s13229-015-0008-1
Ouwenga, Rebecca L, and Dougherty, Joseph. "Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders." Molecular autism vol. 6 (2015): 16. doi: https://doi.org/10.1186/s13229-015-0008-1
Ouwenga RL, Dougherty J. Fmrp targets or not: long, highly brain-expressed genes tend to be implicated in autism and brain disorders. Mol Autism. 2015 Mar 11;6:16. doi: 10.1186/s13229-015-0008-1. eCollection 2015. PMID: 25789151; PMCID: PMC4363463.
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SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).

Molecular autism

Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A.
PMID: 24090431
Mol Autism. 2013 Oct 03;4(1):36. doi: 10.1186/2040-2392-4-36.

New technologies enabling genome-wide interrogation have led to a large and rapidly growing number of autism spectrum disorder (ASD) candidate genes. Although encouraging, the volume and complexity of these data make it challenging for scientists, particularly non-geneticists, to comprehensively...

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Abrahams BS, Arking DE, Campbell DB, et al. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism. 2013;4(1):36doi: 10.1186/2040-2392-4-36.
Abrahams, B. S., Arking, D. E., Campbell, D. B., Mefford, H. C., Morrow, E. M., Weiss, L. A., Menashe, I., Wadkins, T., Banerjee-Basu, S., & Packer, A. (2013). SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Molecular autism, 4(1), 36. https://doi.org/10.1186/2040-2392-4-36
Abrahams, Brett S, et al. "SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)." Molecular autism vol. 4,1 (2013): 36. doi: https://doi.org/10.1186/2040-2392-4-36
Abrahams BS, Arking DE, Campbell DB, Mefford HC, Morrow EM, Weiss LA, Menashe I, Wadkins T, Banerjee-Basu S, Packer A. SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs). Mol Autism. 2013 Oct 03;4(1):36. doi: 10.1186/2040-2392-4-36. PMID: 24090431; PMCID: PMC3851189.
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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.

Cell

[No authors listed]
PMID: 31835028
Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020.

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia...

Cite
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019;179(7):1469-1482.e11doi: 10.1016/j.cell.2019.11.020.
(2019). Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell, 179(7), 1469-1482.e11. https://doi.org/10.1016/j.cell.2019.11.020
"Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders." Cell vol. 179,7 (2019): 1469-1482.e11. doi: https://doi.org/10.1016/j.cell.2019.11.020
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028; PMCID: PMC7077032.
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Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders.

Cell

[No authors listed]
PMID: 31835028
Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020.

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia...

Cite
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019;179(7):1469-1482.e11doi: 10.1016/j.cell.2019.11.020.
(2019). Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell, 179(7), 1469-1482.e11. https://doi.org/10.1016/j.cell.2019.11.020
"Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders." Cell vol. 179,7 (2019): 1469-1482.e11. doi: https://doi.org/10.1016/j.cell.2019.11.020
Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders. Cell. 2019 Dec 12;179(7):1469-1482.e11. doi: 10.1016/j.cell.2019.11.020. PMID: 31835028; PMCID: PMC7077032.
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Showing 1 to 12 of 12 entries