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Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology

[No authors listed]
PMID: 25873785
Acta Myol. 2014 Dec;33(3):152-3.

No abstract available.

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Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. Acta Myol. 2014;33(3):152-3
(2014). Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 33(3), 152-3.
"Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks." Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology vol. 33,3 (2014): 152-3.
Facio-scapulo-humeral muscular dystrophy and its connection with facio-scapuloperoneal muscular dystrophy 4q35-linked: some historical remarks. Acta Myol. 2014 Dec;33(3):152-3. PMID: 25873785; PMCID: PMC4369846.
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Genetic association studies: hypertension and beyond.

Hypertension research : official journal of the Japanese Society of Hypertension

Wang C.
PMID: 21248761
Hypertens Res. 2011 Mar;34(3):294-5. doi: 10.1038/hr.2010.283. Epub 2011 Jan 20.

No abstract available.

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Wang C. Genetic association studies: hypertension and beyond. Hypertens Res. 2011;34(3):294-5doi: 10.1038/hr.2010.283.
Wang, C. (2011). Genetic association studies: hypertension and beyond. Hypertension research : official journal of the Japanese Society of Hypertension, 34(3), 294-5. https://doi.org/10.1038/hr.2010.283
Wang, Chunyu. "Genetic association studies: hypertension and beyond." Hypertension research : official journal of the Japanese Society of Hypertension vol. 34,3 (2011): 294-5. doi: https://doi.org/10.1038/hr.2010.283
Wang C. Genetic association studies: hypertension and beyond. Hypertens Res. 2011 Mar;34(3):294-5. doi: 10.1038/hr.2010.283. Epub 2011 Jan 20. PMID: 21248761.
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Multiple testing and power calculations in genetic association studies.

Cold Spring Harbor protocols

So HC, Sham PC.
PMID: 21205861
Cold Spring Harb Protoc. 2011 Jan 01;2011(1):pdb.top95. doi: 10.1101/pdb.top95.

Modern genetic association studies typically involve multiple single-nucleotide polymorphisms (SNPs) and/or multiple genes. With the development of high-throughput genotyping technologies and the reduction in genotyping cost, investigators can now assay up to a million SNPs for direct or indirect...

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So HC, Sham PC. Multiple testing and power calculations in genetic association studies. Cold Spring Harb Protoc. 2011;2011(1):pdb.top95doi: 10.1101/pdb.top95.
So, H. C., & Sham, P. C. (2011). Multiple testing and power calculations in genetic association studies. Cold Spring Harbor protocols, 2011(1), pdb.top95. https://doi.org/10.1101/pdb.top95
So, Hon-Cheong, and Sham, Pak C. "Multiple testing and power calculations in genetic association studies." Cold Spring Harbor protocols vol. 2011,1 (2011): pdb.top95. doi: https://doi.org/10.1101/pdb.top95
So HC, Sham PC. Multiple testing and power calculations in genetic association studies. Cold Spring Harb Protoc. 2011 Jan 01;2011(1):pdb.top95. doi: 10.1101/pdb.top95. PMID: 21205861.
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The golden era of ocular disease gene discovery: race to the finish.

Clinical genetics

Swaroop A, Sieving PA.
PMID: 23713688
Clin Genet. 2013 Aug;84(2):99-101. doi: 10.1111/cge.12204.

Within the last decade, technological advances have led to amazing genetic insights into Mendelian and multifactorial ocular diseases. We provide a perspective of the progress in gene discovery and discuss the implications. We believe that the time has come...

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Swaroop A, Sieving PA. The golden era of ocular disease gene discovery: race to the finish. Clin Genet. 2013;84(2):99-101doi: 10.1111/cge.12204.
Swaroop, A., & Sieving, P. A. (2013). The golden era of ocular disease gene discovery: race to the finish. Clinical genetics, 84(2), 99-101. https://doi.org/10.1111/cge.12204
Swaroop, A, and Sieving, P A. "The golden era of ocular disease gene discovery: race to the finish." Clinical genetics vol. 84,2 (2013): 99-101. doi: https://doi.org/10.1111/cge.12204
Swaroop A, Sieving PA. The golden era of ocular disease gene discovery: race to the finish. Clin Genet. 2013 Aug;84(2):99-101. doi: 10.1111/cge.12204. PMID: 23713688; PMCID: PMC4240531.
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A novel approach for small sample size family-based association studies: sequential tests.

European journal of human genetics : EJHG

Ilk O, Rajabli F, Dungul DC, Ozdag H, Ilk HG.
PMID: 21427757
Eur J Hum Genet. 2011 Aug;19(8):915-20. doi: 10.1038/ejhg.2011.51. Epub 2011 Mar 23.

In this paper, we propose a sequential probability ratio test (SPRT) to overcome the problem of limited samples in studies related to complex genetic diseases. The results of this novel approach are compared with the ones obtained from the...

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Ilk O, Rajabli F, Dungul DC, et al. A novel approach for small sample size family-based association studies: sequential tests. Eur J Hum Genet. 2011;19(8):915-20doi: 10.1038/ejhg.2011.51.
Ilk, O., Rajabli, F., Dungul, D. C., Ozdag, H., & Ilk, H. G. (2011). A novel approach for small sample size family-based association studies: sequential tests. European journal of human genetics : EJHG, 19(8), 915-20. https://doi.org/10.1038/ejhg.2011.51
Ilk, Ozlem, et al. "A novel approach for small sample size family-based association studies: sequential tests." European journal of human genetics : EJHG vol. 19,8 (2011): 915-20. doi: https://doi.org/10.1038/ejhg.2011.51
Ilk O, Rajabli F, Dungul DC, Ozdag H, Ilk HG. A novel approach for small sample size family-based association studies: sequential tests. Eur J Hum Genet. 2011 Aug;19(8):915-20. doi: 10.1038/ejhg.2011.51. Epub 2011 Mar 23. PMID: 21427757; PMCID: PMC3172932.
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SRMDAP: SimRank and Density-Based Clustering Recommender Model for miRNA-Disease Association Prediction.

BioMed research international

Li X, Lin Y, Gu C, Li Z.
PMID: 29750163
Biomed Res Int. 2018 Mar 21;2018:5747489. doi: 10.1155/2018/5747489. eCollection 2018.

Aberrant expression of microRNAs (miRNAs) can be applied for the diagnosis, prognosis, and treatment of human diseases. Identifying the relationship between miRNA and human disease is important to further investigate the pathogenesis of human diseases. However, experimental identification of...

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Li X, Lin Y, Gu C, et al. SRMDAP: SimRank and Density-Based Clustering Recommender Model for miRNA-Disease Association Prediction. Biomed Res Int. 2018;2018:5747489doi: 10.1155/2018/5747489.
Li, X., Lin, Y., Gu, C., & Li, Z. (2018). SRMDAP: SimRank and Density-Based Clustering Recommender Model for miRNA-Disease Association Prediction. BioMed research international, 20185747489. https://doi.org/10.1155/2018/5747489
Li, Xiaoying, et al. "SRMDAP: SimRank and Density-Based Clustering Recommender Model for miRNA-Disease Association Prediction." BioMed research international vol. 2018 (2018): 5747489. doi: https://doi.org/10.1155/2018/5747489
Li X, Lin Y, Gu C, Li Z. SRMDAP: SimRank and Density-Based Clustering Recommender Model for miRNA-Disease Association Prediction. Biomed Res Int. 2018 Mar 21;2018:5747489. doi: 10.1155/2018/5747489. eCollection 2018. PMID: 29750163; PMCID: PMC5884242.
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EWAS Atlas: a curated knowledgebase of epigenome-wide association studies.

Nucleic acids research

Li M, Zou D, Li Z, Gao R, Sang J, Zhang Y, Li R, Xia L, Zhang T, Niu G, Bao Y, Zhang Z.
PMID: 30364969
Nucleic Acids Res. 2019 Jan 08;47:D983-D988. doi: 10.1093/nar/gky1027.

Epigenome-Wide Association Study (EWAS) has become increasingly significant in identifying the associations between epigenetic variations and different biological traits. In this study, we develop EWAS Atlas (http://bigd.big.ac.cn/ewas), a curated knowledgebase of EWAS that provides a comprehensive collection of EWAS...

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Li M, Zou D, Li Z, et al. EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. Nucleic Acids Res. 2019;47:D983-D988doi: 10.1093/nar/gky1027.
Li, M., Zou, D., Li, Z., Gao, R., Sang, J., Zhang, Y., Li, R., Xia, L., Zhang, T., Niu, G., Bao, Y., & Zhang, Z. (2019). EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. Nucleic acids research, 47D983-D988. https://doi.org/10.1093/nar/gky1027
Li, Mengwei, et al. "EWAS Atlas: a curated knowledgebase of epigenome-wide association studies." Nucleic acids research vol. 47 (2019): D983-D988. doi: https://doi.org/10.1093/nar/gky1027
Li M, Zou D, Li Z, Gao R, Sang J, Zhang Y, Li R, Xia L, Zhang T, Niu G, Bao Y, Zhang Z. EWAS Atlas: a curated knowledgebase of epigenome-wide association studies. Nucleic Acids Res. 2019 Jan 08;47:D983-D988. doi: 10.1093/nar/gky1027. PMID: 30364969; PMCID: PMC6324068.
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Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction.

Circulation. Cardiovascular genetics

Rhee JW, Grove ME, Ashley EA.
PMID: 28798026
Circ Cardiovasc Genet. 2017 Aug;10(4). doi: 10.1161/CIRCGENETICS.117.001857.

No abstract available.

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Rhee JW, Grove ME, Ashley EA. Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017;10(4)doi: 10.1161/CIRCGENETICS.117.001857.
Rhee, J. W., Grove, M. E., & Ashley, E. A. (2017). Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. Circulation. Cardiovascular genetics, 10(4), . https://doi.org/10.1161/CIRCGENETICS.117.001857
Rhee, June-Wha, et al. "Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction." Circulation. Cardiovascular genetics vol. 10,4 (2017). doi: https://doi.org/10.1161/CIRCGENETICS.117.001857
Rhee JW, Grove ME, Ashley EA. Navigating Genetic and Phenotypic Uncertainty in Left Ventricular Noncompaction. Circ Cardiovasc Genet. 2017 Aug;10(4). doi: 10.1161/CIRCGENETICS.117.001857. PMID: 28798026.
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Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry.

Journal of the National Cancer Institute

Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN.
PMID: 29618041
J Natl Cancer Inst. 2018 Oct 01;110(10):1059-1066. doi: 10.1093/jnci/djy027.

BACKGROUND: In germline genetic testing, variants from understudied ancestries have been disproportionately classified as being of uncertain significance. We hypothesized that the rate of variant reclassification likewise differs by ancestry.METHODS: Nonbenign variants in actionable genes were collected from consenting...

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Slavin TP, Van Tongeren LR, Behrendt CE, et al. Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry. J Natl Cancer Inst. 2018;110(10):1059-1066doi: 10.1093/jnci/djy027.
Slavin, T. P., Van Tongeren, L. R., Behrendt, C. E., Solomon, I., Rybak, C., Nehoray, B., Kuzmich, L., Niell-Swiller, M., Blazer, K. R., Tao, S., Yang, K., Culver, J. O., Sand, S., Castillo, D., Herzog, J., Gray, S. W., & Weitzel, J. N. (2018). Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry. Journal of the National Cancer Institute, 110(10), 1059-1066. https://doi.org/10.1093/jnci/djy027
Slavin, Thomas P, et al. "Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry." Journal of the National Cancer Institute vol. 110,10 (2018): 1059-1066. doi: https://doi.org/10.1093/jnci/djy027
Slavin TP, Van Tongeren LR, Behrendt CE, Solomon I, Rybak C, Nehoray B, Kuzmich L, Niell-Swiller M, Blazer KR, Tao S, Yang K, Culver JO, Sand S, Castillo D, Herzog J, Gray SW, Weitzel JN. Prospective Study of Cancer Genetic Variants: Variation in Rate of Reclassification by Ancestry. J Natl Cancer Inst. 2018 Oct 01;110(10):1059-1066. doi: 10.1093/jnci/djy027. PMID: 29618041; PMCID: PMC6249694.
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Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.

American journal of human genetics

Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS.
PMID: 28552198
Am J Hum Genet. 2017 Jun 01;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25.

With advances in genomic sequencing technology, the number of reported gene-disease relationships has rapidly expanded. However, the evidence supporting these claims varies widely, confounding accurate evaluation of genomic variation in a clinical setting. Despite the critical need to differentiate...

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Strande NT, Riggs ER, Buchanan AH, et al. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017;100(6):895-906doi: 10.1016/j.ajhg.2017.04.015.
Strande, N. T., Riggs, E. R., Buchanan, A. H., Ceyhan-Birsoy, O., DiStefano, M., Dwight, S. S., Goldstein, J., Ghosh, R., Seifert, B. A., Sneddon, T. P., Wright, M. W., Milko, L. V., Cherry, J. M., Giovanni, M. A., Murray, M. F., O'Daniel, J. M., Ramos, E. M., Santani, A. B., Scott, A. F., Plon, S. E., Rehm, H. L., Martin, C. L., & Berg, J. S. (2017). Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. American journal of human genetics, 100(6), 895-906. https://doi.org/10.1016/j.ajhg.2017.04.015
Strande, Natasha T, et al. "Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource." American journal of human genetics vol. 100,6 (2017): 895-906. doi: https://doi.org/10.1016/j.ajhg.2017.04.015
Strande NT, Riggs ER, Buchanan AH, Ceyhan-Birsoy O, DiStefano M, Dwight SS, Goldstein J, Ghosh R, Seifert BA, Sneddon TP, Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, Martin CL, Berg JS. Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource. Am J Hum Genet. 2017 Jun 01;100(6):895-906. doi: 10.1016/j.ajhg.2017.04.015. Epub 2017 May 25. PMID: 28552198; PMCID: PMC5473734.
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Commentary on Lessons from CKD-Related Genetic Association Studies-Moving Forward.

Clinical journal of the American Society of Nephrology : CJASN

Kestenbaum B, Seliger SL.
PMID: 29242371
Clin J Am Soc Nephrol. 2018 Jan 06;13(1):153-154. doi: 10.2215/CJN.12421117. Epub 2017 Dec 14.

No abstract available.

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Kestenbaum B, Seliger SL. Commentary on Lessons from CKD-Related Genetic Association Studies-Moving Forward. Clin J Am Soc Nephrol. 2017;13(1):153-154doi: 10.2215/CJN.12421117.
Kestenbaum, B., & Seliger, S. L. (2018). Commentary on Lessons from CKD-Related Genetic Association Studies-Moving Forward. Clinical journal of the American Society of Nephrology : CJASN, 13(1), 153-154. https://doi.org/10.2215/CJN.12421117
Kestenbaum, Bryan, and Seliger, Stephen L. "Commentary on Lessons from CKD-Related Genetic Association Studies-Moving Forward." Clinical journal of the American Society of Nephrology : CJASN vol. 13,1 (2018): 153-154. doi: https://doi.org/10.2215/CJN.12421117
Kestenbaum B, Seliger SL. Commentary on Lessons from CKD-Related Genetic Association Studies-Moving Forward. Clin J Am Soc Nephrol. 2018 Jan 06;13(1):153-154. doi: 10.2215/CJN.12421117. Epub 2017 Dec 14. PMID: 29242371; PMCID: PMC5753326.
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It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686).

Brain pathology (Zurich, Switzerland)

Blumcke I.
PMID: 30868684
Brain Pathol. 2019 Jul;29(4):467-468. doi: 10.1111/bpa.12714. Epub 2019 Mar 13.

No abstract available.

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Blumcke I. It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686). Brain Pathol. 2019;29(4):467-468doi: 10.1111/bpa.12714.
Blumcke, I. (2019). It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686). Brain pathology (Zurich, Switzerland), 29(4), 467-468. https://doi.org/10.1111/bpa.12714
Blumcke, Ingmar. "It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686)." Brain pathology (Zurich, Switzerland) vol. 29,4 (2019): 467-468. doi: https://doi.org/10.1111/bpa.12714
Blumcke I. It is time to move on: Commentary to: Genotype-phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery (DOI: 10.1111/bpa.12686). Brain Pathol. 2019 Jul;29(4):467-468. doi: 10.1111/bpa.12714. Epub 2019 Mar 13. PMID: 30868684; PMCID: PMC8028411.
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