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Design of large-insert jumping libraries for structural variant detection using Illumina sequencing.

Current protocols in human genetics

Hanscom C, Talkowski M.
PMID: 24789519
Curr Protoc Hum Genet. 2014 Jan 23;80:7.22.1-9. doi: 10.1002/0471142905.hg0722s80.

Next-generation sequencing is an important and efficient tool for the identification of structural variation, particularly balanced chromosomal rearrangements, because such events are not routinely detected by microarray and localization of altered regions by karyotype is imprecise. Indeed, the degree...

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Hanscom C, Talkowski M. Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. Curr Protoc Hum Genet. 2014;80:7.22.1-9doi: 10.1002/0471142905.hg0722s80.
Hanscom, C., & Talkowski, M. (2014). Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. Current protocols in human genetics, 807.22.1-9. https://doi.org/10.1002/0471142905.hg0722s80
Hanscom, C, and Talkowski, M. "Design of large-insert jumping libraries for structural variant detection using Illumina sequencing." Current protocols in human genetics vol. 80 (2014): 7.22.1-9. doi: https://doi.org/10.1002/0471142905.hg0722s80
Hanscom C, Talkowski M. Design of large-insert jumping libraries for structural variant detection using Illumina sequencing. Curr Protoc Hum Genet. 2014 Jan 23;80:7.22.1-9. doi: 10.1002/0471142905.hg0722s80. PMID: 24789519; PMCID: PMC4009510.
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Identification and function of long non-coding RNA.

Frontiers in cellular neuroscience

Ernst C, Morton CC.
PMID: 24106460
Front Cell Neurosci. 2013 Oct 02;7:168. doi: 10.3389/fncel.2013.00168.

Long non-coding (lnc) RNAs are defined as non-protein coding RNAs distinct from housekeeping RNAs such as tRNAs, rRNAs, and snRNAs, and independent from small RNAs with specific molecular processing machinery such as micro- or piwi-RNAs. Recent studies of lncRNAs...

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Ernst C, Morton CC. Identification and function of long non-coding RNA. Front Cell Neurosci. 2013;7:168doi: 10.3389/fncel.2013.00168.
Ernst, C., & Morton, C. C. (2013). Identification and function of long non-coding RNA. Frontiers in cellular neuroscience, 7168. https://doi.org/10.3389/fncel.2013.00168
Ernst, Carl, and Morton, Cynthia C. "Identification and function of long non-coding RNA." Frontiers in cellular neuroscience vol. 7 (2013): 168. doi: https://doi.org/10.3389/fncel.2013.00168
Ernst C, Morton CC. Identification and function of long non-coding RNA. Front Cell Neurosci. 2013 Oct 02;7:168. doi: 10.3389/fncel.2013.00168. PMID: 24106460; PMCID: PMC3788346.
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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

European journal of human genetics : EJHG

Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD.
PMID: 27834362
Eur J Hum Genet. 2016 Dec;24(12):1833. doi: 10.1038/ejhg.2016.112.

No abstract available.

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Rodan LH, Cohen J, Fatemi A, et al. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016;24(12):1833doi: 10.1038/ejhg.2016.112.
Rodan, L. H., Cohen, J., Fatemi, A., Gillis, T., Lucente, D., Gusella, J., & Picker, J. D. (2016). A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. European journal of human genetics : EJHG, 24(12), 1833. https://doi.org/10.1038/ejhg.2016.112
Rodan, Lance H, et al. "A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene." European journal of human genetics : EJHG vol. 24,12 (2016): 1833. doi: https://doi.org/10.1038/ejhg.2016.112
Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 Dec;24(12):1833. doi: 10.1038/ejhg.2016.112. PMID: 27834362; PMCID: PMC5117917.
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Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity.

Archives of general psychiatry

Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME.
PMID: 23044507
Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660.

CONTEXT Brain-derived neurotrophic factor (BDNF) is suspected of being a causative factor in psychiatric disorders based on case reports or studies involving large structural anomalies. OBJECTIVE To determine the involvement of BDNF in human psychopathology. DESIGN Case-control study. SETTING...

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Ernst C, Marshall CR, Shen Y, et al. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012;69(12):1238-46doi: 10.1001/archgenpsychiatry.2012.660.
Ernst, C., Marshall, C. R., Shen, Y., Metcalfe, K., Rosenfeld, J., Hodge, J. C., Torres, A., Blumenthal, I., Chiang, C., Pillalamarri, V., Crapper, L., Diallo, A. B., Ruderfer, D., Pereira, S., Sklar, P., Purcell, S., Wildin, R. S., Spencer, A. C., Quade, B. F., Harris, D. J., Lemyre, E., Wu, B. L., Stavropoulos, D. J., Geraghty, M. T., Shaffer, L. G., Morton, C. C., Scherer, S. W., Gusella, J. F., & Talkowski, M. E. (2012). Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Archives of general psychiatry, 69(12), 1238-46. https://doi.org/10.1001/archgenpsychiatry.2012.660
Ernst, Carl, et al. "Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity." Archives of general psychiatry vol. 69,12 (2012): 1238-46. doi: https://doi.org/10.1001/archgenpsychiatry.2012.660
Ernst C, Marshall CR, Shen Y, Metcalfe K, Rosenfeld J, Hodge JC, Torres A, Blumenthal I, Chiang C, Pillalamarri V, Crapper L, Diallo AB, Ruderfer D, Pereira S, Sklar P, Purcell S, Wildin RS, Spencer AC, Quade BF, Harris DJ, Lemyre E, Wu BL, Stavropoulos DJ, Geraghty MT, Shaffer LG, Morton CC, Scherer SW, Gusella JF, Talkowski ME. Highly penetrant alterations of a critical region including BDNF in human psychopathology and obesity. Arch Gen Psychiatry. 2012 Dec;69(12):1238-46. doi: 10.1001/archgenpsychiatry.2012.660. PMID: 23044507; PMCID: PMC3590016.
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WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene .

Molecular neuropsychiatry

Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ.
PMID: 28879201
Mol Neuropsychiatry. 2017 Jul;3(1):53-71. doi: 10.1159/000475666. Epub 2017 Jul 14.

Genetic variation within the transcription factor

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Hennig KM, Fass DM, Zhao WN, et al. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene . Mol Neuropsychiatry. 2017;3(1):53-71doi: 10.1159/000475666.
Hennig, K. M., Fass, D. M., Zhao, W. N., Sheridan, S. D., Fu, T., Erdin, S., Stortchevoi, A., Lucente, D., Cody, J. D., Sweetser, D., Gusella, J. F., Talkowski, M. E., & Haggarty, S. J. (2017). WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene . Molecular neuropsychiatry, 3(1), 53-71. https://doi.org/10.1159/000475666
Hennig, Krista M, et al. "WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene ." Molecular neuropsychiatry vol. 3,1 (2017): 53-71. doi: https://doi.org/10.1159/000475666
Hennig KM, Fass DM, Zhao WN, Sheridan SD, Fu T, Erdin S, Stortchevoi A, Lucente D, Cody JD, Sweetser D, Gusella JF, Talkowski ME, Haggarty SJ. WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene . Mol Neuropsychiatry. 2017 Jul;3(1):53-71. doi: 10.1159/000475666. Epub 2017 Jul 14. PMID: 28879201; PMCID: PMC5582445.
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Mechanisms for Structural Variation in the Human Genome.

Current genetic medicine reports

Currall BB, Chiang C, Talkowski ME, Morton CC.
PMID: 23730541
Curr Genet Med Rep. 2013 Jun 01;1(2):81-90. doi: 10.1007/s40142-013-0012-8.

It has been known for several decades that genetic variation involving changes to chromosomal structure (i.e., structural variants) can contribute to disease; however this relationship has been brought into acute focus in recent years largely based on innovative new...

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Currall BB, Chiang C, Talkowski ME, et al. Mechanisms for Structural Variation in the Human Genome. Curr Genet Med Rep. 2013;1(2):81-90doi: 10.1007/s40142-013-0012-8.
Currall, B. B., Chiang, C., Talkowski, M. E., & Morton, C. C. (2013). Mechanisms for Structural Variation in the Human Genome. Current genetic medicine reports, 1(2), 81-90. https://doi.org/10.1007/s40142-013-0012-8
Currall, Benjamin B, et al. "Mechanisms for Structural Variation in the Human Genome." Current genetic medicine reports vol. 1,2 (2013): 81-90. doi: https://doi.org/10.1007/s40142-013-0012-8
Currall BB, Chiang C, Talkowski ME, Morton CC. Mechanisms for Structural Variation in the Human Genome. Curr Genet Med Rep. 2013 Jun 01;1(2):81-90. doi: 10.1007/s40142-013-0012-8. PMID: 23730541; PMCID: PMC3665418.
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Showing 1 to 6 of 6 entries