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Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR).

BioData mining

De R, Verma SS, Drenos F, Holzinger ER, Holmes MV, Hall MA, Crosslin DR, Carrell DS, Hakonarson H, Jarvik G, Larson E, Pacheco JA, Rasmussen-Torvik LJ, Moore CB, Asselbergs FW, Moore JH, Ritchie MD, Keating BJ, Gilbert-Diamond D.
PMID: 26674805
BioData Min. 2015 Dec 14;8:41. doi: 10.1186/s13040-015-0074-0. eCollection 2015.

BACKGROUND: Despite heritability estimates of 40-70 % for obesity, less than 2 % of its variation is explained by Body Mass Index (BMI) associated loci that have been identified so far. Epistasis, or gene-gene interactions are a plausible source...

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De R, Verma SS, Drenos F, et al. Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData Min. 2015;8:41doi: 10.1186/s13040-015-0074-0.
De, R., Verma, S. S., Drenos, F., Holzinger, E. R., Holmes, M. V., Hall, M. A., Crosslin, D. R., Carrell, D. S., Hakonarson, H., Jarvik, G., Larson, E., Pacheco, J. A., Rasmussen-Torvik, L. J., Moore, C. B., Asselbergs, F. W., Moore, J. H., Ritchie, M. D., Keating, B. J., & Gilbert-Diamond, D. (2015). Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData mining, 841. https://doi.org/10.1186/s13040-015-0074-0
De, Rishika, et al. "Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR)." BioData mining vol. 8 (2015): 41. doi: https://doi.org/10.1186/s13040-015-0074-0
De R, Verma SS, Drenos F, Holzinger ER, Holmes MV, Hall MA, Crosslin DR, Carrell DS, Hakonarson H, Jarvik G, Larson E, Pacheco JA, Rasmussen-Torvik LJ, Moore CB, Asselbergs FW, Moore JH, Ritchie MD, Keating BJ, Gilbert-Diamond D. Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). BioData Min. 2015 Dec 14;8:41. doi: 10.1186/s13040-015-0074-0. eCollection 2015. PMID: 26674805; PMCID: PMC4678717.
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Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Human genomics

Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H.
PMID: 26782110
Hum Genomics. 2016 Jan 18;10:5. doi: 10.1186/s40246-016-0060-8.

No abstract available.

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Liu Y, Li Y, March ME, et al. Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2016;10:5doi: 10.1186/s40246-016-0060-8.
Liu, Y., Li, Y., March, M. E., Nguyen, K., Xu, K., Wang, F., Guo, Y., Keating, B., Glessner, J., Li, J., Ganley, T. J., Zhang, J., Deardorff, M. A., Xu, X., & Hakonarson, H. (2016). Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Human genomics, 105. https://doi.org/10.1186/s40246-016-0060-8
Liu, Yichuan, et al. "Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments." Human genomics vol. 10 (2016): 5. doi: https://doi.org/10.1186/s40246-016-0060-8
Liu Y, Li Y, March ME, Nguyen K, Xu K, Wang F, Guo Y, Keating B, Glessner J, Li J, Ganley TJ, Zhang J, Deardorff MA, Xu X, Hakonarson H. Erratum to: Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments. Hum Genomics. 2016 Jan 18;10:5. doi: 10.1186/s40246-016-0060-8. PMID: 26782110; PMCID: PMC4717653.
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Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts.

Frontiers in genetics

Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H.
PMID: 24672537
Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014.

The goal of this paper is to review recent research on copy number variations (CNVs) and their association with complex and rare diseases. In the latter part of this paper, we focus on how large biorepositories such as the...

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Connolly JJ, Glessner JT, Almoguera B, et al. Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Front Genet. 2014;5:51doi: 10.3389/fgene.2014.00051.
Connolly, J. J., Glessner, J. T., Almoguera, B., Crosslin, D. R., Jarvik, G. P., Sleiman, P. M., & Hakonarson, H. (2014). Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Frontiers in genetics, 551. https://doi.org/10.3389/fgene.2014.00051
Connolly, John J, et al. "Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts." Frontiers in genetics vol. 5 (2014): 51. doi: https://doi.org/10.3389/fgene.2014.00051
Connolly JJ, Glessner JT, Almoguera B, Crosslin DR, Jarvik GP, Sleiman PM, Hakonarson H. Copy number variation analysis in the context of electronic medical records and large-scale genomics consortium efforts. Front Genet. 2014 Mar 18;5:51. doi: 10.3389/fgene.2014.00051. eCollection 2014. PMID: 24672537; PMCID: PMC3957100.
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Examination of genetic variants influencing lipid traits in pediatric populations.

Journal of pediatric genetics

Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H.
PMID: 27625808
J Pediatr Genet. 2012 Jun;1(2):85-98. doi: 10.3233/PGE-2012-016.

Previous large-scale genome-wide association studies in adult populations have implicated ∽100 loci in determining high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol, or triglyceride levels. However, whether these loci also contribute to variations of lipid traits in pediatric populations remain...

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Wang K, Zhang H, Mentch FD, et al. Examination of genetic variants influencing lipid traits in pediatric populations. J Pediatr Genet. 2012;1(2):85-98doi: 10.3233/PGE-2012-016.
Wang, K., Zhang, H., Mentch, F. D., Bradfield, J. P., Glessner, J. T., Qiu, H., Guo, Y., Hou, C., Frackelton, E. C., Thomas, K., Bender, A., Albano, A., Otieno, G., Garris, M., Seidler, K., Moy, A., Kim, C. E., Keating, B., Chiavacci, R. M., Grundmeier, R., Sleiman, P. A., Grant, S. F., & Hakonarson, H. (2012). Examination of genetic variants influencing lipid traits in pediatric populations. Journal of pediatric genetics, 1(2), 85-98. https://doi.org/10.3233/PGE-2012-016
Wang, Kai, et al. "Examination of genetic variants influencing lipid traits in pediatric populations." Journal of pediatric genetics vol. 1,2 (2012): 85-98. doi: https://doi.org/10.3233/PGE-2012-016
Wang K, Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C, Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K, Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF, Hakonarson H. Examination of genetic variants influencing lipid traits in pediatric populations. J Pediatr Genet. 2012 Jun;1(2):85-98. doi: 10.3233/PGE-2012-016. PMID: 27625808; PMCID: PMC5020926.
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Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

International journal of obesity (2005)

Namjou B, Stanaway IB, Lingren T, Mentch FD, Benoit B, Dikilitas O, Niu X, Shang N, Shoemaker AH, Carey DJ, Mirshahi T, Singh R, Nestor JG, Hakonarson H, Denny JC, Crosslin DR, Jarvik GP, Kullo IJ, Williams MS, Harley JB.
PMID: 32952152
Int J Obes (Lond). 2021 Jan;45(1):155-169. doi: 10.1038/s41366-020-00675-4. Epub 2020 Sep 20.

BACKGROUND/OBJECTIVES: Melanocortin-4 receptor (MC4R) plays an essential role in food intake and energy homeostasis. More than 170 MC4R variants have been described over the past two decades, with conflicting reports regarding the prevalence and phenotypic effects of these variants...

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Namjou B, Stanaway IB, Lingren T, et al. Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. Int J Obes (Lond). 2020;45(1):155-169doi: 10.1038/s41366-020-00675-4.
Namjou, B., Stanaway, I. B., Lingren, T., Mentch, F. D., Benoit, B., Dikilitas, O., Niu, X., Shang, N., Shoemaker, A. H., Carey, D. J., Mirshahi, T., Singh, R., Nestor, J. G., Hakonarson, H., Denny, J. C., Crosslin, D. R., Jarvik, G. P., Kullo, I. J., Williams, M. S., & Harley, J. B. (2021). Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. International journal of obesity (2005), 45(1), 155-169. https://doi.org/10.1038/s41366-020-00675-4
Namjou, Bahram, et al. "Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants." International journal of obesity (2005) vol. 45,1 (2021): 155-169. doi: https://doi.org/10.1038/s41366-020-00675-4
Namjou B, Stanaway IB, Lingren T, Mentch FD, Benoit B, Dikilitas O, Niu X, Shang N, Shoemaker AH, Carey DJ, Mirshahi T, Singh R, Nestor JG, Hakonarson H, Denny JC, Crosslin DR, Jarvik GP, Kullo IJ, Williams MS, Harley JB. Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants. Int J Obes (Lond). 2021 Jan;45(1):155-169. doi: 10.1038/s41366-020-00675-4. Epub 2020 Sep 20. PMID: 32952152; PMCID: PMC7752751.
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Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Genetics in medicine : official journal of the American College of Medical Genetics

Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R.
PMID: 32814847
Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Kennedy J, Goudie D, Blair E, et al. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2020;22(11):1920doi: 10.1038/s41436-020-00944-7.
Kennedy, J., Goudie, D., Blair, E., Chandler, K., Joss, S., McKay, V., Green, A., Armstrong, R., Lees, M., Kamien, B., Hopper, B., Tan, T. Y., Yap, P., Stark, Z., Okamoto, N., Miyake, N., Matsumoto, N., Macnamara, E., Murphy, J. L., McCormick, E., Hakonarson, H., Falk, M. J., Li, D., Blackburn, P., Klee, E., Babovic-Vuksanovic, D., Schelley, S., Hudgins, L., Kant, S., Isidor, B., Cogne, B., Bradbury, K., Williams, M., Patel, C., Heussler, H., Duff-Farrier, C., Lakeman, P., Scurr, I., Kini, U., Elting, M., Reijnders, M., Schuurs-Hoeijmakers, J., Wafik, M., Blomhoff, A., Ruivenkamp, C. A. L., Nibbeling, E., Dingemans, A. J. M., Douine, E. D., Nelson, S. F., Hempel, M., Bierhals, T., Lessel, D., Johannsen, J., Arboleda, V. A., & Newbury-Ecob, R. (2020). Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genetics in medicine : official journal of the American College of Medical Genetics, 22(11), 1920. https://doi.org/10.1038/s41436-020-00944-7
Kennedy, Joanna, et al. "Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants." Genetics in medicine : official journal of the American College of Medical Genetics vol. 22,11 (2020): 1920. doi: https://doi.org/10.1038/s41436-020-00944-7
Kennedy J, Goudie D, Blair E, Chandler K, Joss S, McKay V, Green A, Armstrong R, Lees M, Kamien B, Hopper B, Tan TY, Yap P, Stark Z, Okamoto N, Miyake N, Matsumoto N, Macnamara E, Murphy JL, McCormick E, Hakonarson H, Falk MJ, Li D, Blackburn P, Klee E, Babovic-Vuksanovic D, Schelley S, Hudgins L, Kant S, Isidor B, Cogne B, Bradbury K, Williams M, Patel C, Heussler H, Duff-Farrier C, Lakeman P, Scurr I, Kini U, Elting M, Reijnders M, Schuurs-Hoeijmakers J, Wafik M, Blomhoff A, Ruivenkamp CAL, Nibbeling E, Dingemans AJM, Douine ED, Nelson SF, Hempel M, Bierhals T, Lessel D, Johannsen J, Arboleda VA, Newbury-Ecob R. Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. Genet Med. 2020 Nov;22(11):1920. doi: 10.1038/s41436-020-00944-7. PMID: 32814847.
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Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene.

American journal of medical genetics. Part A

Al-Harbi TM, Al-Rammah H, Al-Zahrani N, Liu Y, Sleiman PMA, Dridi W, Hakonarson H.
PMID: 34636138
Am J Med Genet A. 2021 Oct 11; doi: 10.1002/ajmg.a.62539. Epub 2021 Oct 11.

We report a 38-year-old Saudi male with Ehlers-Danlos Syndrome (EDS). The patient presented with rare and unusual neurological manifestations, including but not limited to ophthalmoplegia and myopathic pattern on his electromyography. In addition to hand weakness, there was skin...

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Al-Harbi TM, Al-Rammah H, Al-Zahrani N, et al. Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. Am J Med Genet A. 2021;doi: 10.1002/ajmg.a.62539.
Al-Harbi, T. M., Al-Rammah, H., Al-Zahrani, N., Liu, Y., Sleiman, P. M. A., Dridi, W., & Hakonarson, H. (2021). Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. American journal of medical genetics. Part A, . https://doi.org/10.1002/ajmg.a.62539
Al-Harbi, Talal M, et al. "Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene." American journal of medical genetics. Part A vol. (2021). doi: https://doi.org/10.1002/ajmg.a.62539
Al-Harbi TM, Al-Rammah H, Al-Zahrani N, Liu Y, Sleiman PMA, Dridi W, Hakonarson H. Rare neurological manifestations in a Saudi Arabian patient with Ehlers-Danlos syndrome and a novel homozygous variant in the TNXB gene. Am J Med Genet A. 2021 Oct 11; doi: 10.1002/ajmg.a.62539. Epub 2021 Oct 11. PMID: 34636138.
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Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality.

Frontiers in physiology

So J, Ningappa M, Glessner J, Min J, Ashokkumar C, Ranganathan S, Higgs BW, Li D, Sun Q, Schmitt L, Biery AC, Dobrowolski S, Trautz C, Fuhrman L, Schwartz MC, Klena NT, Fusco J, Prasadan K, Adenuga M, Mohamed N, Yan Q, Chen W, Horne W, Dhawan A, Sharif K, Kelly D, Squires RH, Gittes GK, Hakonarson H, Morell V, Lo C, Subramaniam S, Shin D, Sindhi R.
PMID: 33192543
Front Physiol. 2020 Oct 30;11:538701. doi: 10.3389/fphys.2020.538701. eCollection 2020.

BACKGROUND/AIMS: Infectious and genetic factors are invoked, respectively in isolated biliary atresia (BA), or syndromic BA, with major extrahepatic anomalies. However, isolated BA is also associated with minor extrahepatic gut and cardiovascular anomalies and multiple susceptibility genes, suggesting common...

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So J, Ningappa M, Glessner J, et al. Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. Front Physiol. 2020;11:538701doi: 10.3389/fphys.2020.538701.
So, J., Ningappa, M., Glessner, J., Min, J., Ashokkumar, C., Ranganathan, S., Higgs, B. W., Li, D., Sun, Q., Schmitt, L., Biery, A. C., Dobrowolski, S., Trautz, C., Fuhrman, L., Schwartz, M. C., Klena, N. T., Fusco, J., Prasadan, K., Adenuga, M., Mohamed, N., Yan, Q., Chen, W., Horne, W., Dhawan, A., Sharif, K., Kelly, D., Squires, R. H., Gittes, G. K., Hakonarson, H., Morell, V., Lo, C., Subramaniam, S., Shin, D., & Sindhi, R. (2020). Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. Frontiers in physiology, 11538701. https://doi.org/10.3389/fphys.2020.538701
So, Juhoon, et al. "Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality." Frontiers in physiology vol. 11 (2020): 538701. doi: https://doi.org/10.3389/fphys.2020.538701
So J, Ningappa M, Glessner J, Min J, Ashokkumar C, Ranganathan S, Higgs BW, Li D, Sun Q, Schmitt L, Biery AC, Dobrowolski S, Trautz C, Fuhrman L, Schwartz MC, Klena NT, Fusco J, Prasadan K, Adenuga M, Mohamed N, Yan Q, Chen W, Horne W, Dhawan A, Sharif K, Kelly D, Squires RH, Gittes GK, Hakonarson H, Morell V, Lo C, Subramaniam S, Shin D, Sindhi R. Biliary-Atresia-Associated Mannosidase-1-Alpha-2 Gene Regulates Biliary and Ciliary Morphogenesis and Laterality. Front Physiol. 2020 Oct 30;11:538701. doi: 10.3389/fphys.2020.538701. eCollection 2020. PMID: 33192543; PMCID: PMC7662016.
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A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes.

JAMA network open

Liu G, Shi M, Mosley JD, Weng C, Zhang Y, Lee MTM, Jarvik GP, Hakonarson H, Namjou-Khales B, Sleiman P, Luo Y, Mentch F, Denny JC, Linton MF, Wei WQ, Stein CM, Feng Q.
PMID: 34097045
JAMA Netw Open. 2021 Jun 01;4(6):e2112820. doi: 10.1001/jamanetworkopen.2021.12820.

IMPORTANCE: Observational studies suggest that statins, which inhibit 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, may be associated with beneficial effects in many noncardiovascular diseases.OBJECTIVE: To construct a weighted HMG-CoA reductase (HMGCR) gene genetic risk score (GRS) using variants in the...

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Liu G, Shi M, Mosley JD, et al. A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. JAMA Netw Open. 2021;4(6):e2112820doi: 10.1001/jamanetworkopen.2021.12820.
Liu, G., Shi, M., Mosley, J. D., Weng, C., Zhang, Y., Lee, M. T. M., Jarvik, G. P., Hakonarson, H., Namjou-Khales, B., Sleiman, P., Luo, Y., Mentch, F., Denny, J. C., Linton, M. F., Wei, W. Q., Stein, C. M., & Feng, Q. (2021). A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. JAMA network open, 4(6), e2112820. https://doi.org/10.1001/jamanetworkopen.2021.12820
Liu, Ge, et al. "A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes." JAMA network open vol. 4,6 (2021): e2112820. doi: https://doi.org/10.1001/jamanetworkopen.2021.12820
Liu G, Shi M, Mosley JD, Weng C, Zhang Y, Lee MTM, Jarvik GP, Hakonarson H, Namjou-Khales B, Sleiman P, Luo Y, Mentch F, Denny JC, Linton MF, Wei WQ, Stein CM, Feng Q. A Mendelian Randomization Approach Using 3-HMG-Coenzyme-A Reductase Gene Variation to Evaluate the Association of Statin-Induced Low-Density Lipoprotein Cholesterol Lowering With Noncardiovascular Disease Phenotypes. JAMA Netw Open. 2021 Jun 01;4(6):e2112820. doi: 10.1001/jamanetworkopen.2021.12820. PMID: 34097045; PMCID: PMC8185593.
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Genetic Variation in .

Genes

Buono RJ, Bradfield JP, Wei Z, Sperling MR, Dlugos DJ, Privitera MD, French JA, Lo W, Cossette P, Schachter SC, Basehore H, Lohoff FW, Grant SFA, Ferraro TN, Hakonarson H.
PMID: 34573423
Genes (Basel). 2021 Sep 18;12(9). doi: 10.3390/genes12091441.

We performed a genome-wide association study (GWAS) to identify genetic variation associated with common forms of idiopathic generalized epilepsy (GE) and focal epilepsy (FE). Using a cohort of 2220 patients and 14,448 controls, we searched for single nucleotide polymorphisms...

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Buono RJ, Bradfield JP, Wei Z, et al. Genetic Variation in . Genes (Basel). 2021;12(9)doi: 10.3390/genes12091441.
Buono, R. J., Bradfield, J. P., Wei, Z., Sperling, M. R., Dlugos, D. J., Privitera, M. D., French, J. A., Lo, W., Cossette, P., Schachter, S. C., Basehore, H., Lohoff, F. W., Grant, S. F. A., Ferraro, T. N., & Hakonarson, H. (2021). Genetic Variation in . Genes, 12(9), . https://doi.org/10.3390/genes12091441
Buono, Russell J, et al. "Genetic Variation in ." Genes vol. 12,9 (2021). doi: https://doi.org/10.3390/genes12091441
Buono RJ, Bradfield JP, Wei Z, Sperling MR, Dlugos DJ, Privitera MD, French JA, Lo W, Cossette P, Schachter SC, Basehore H, Lohoff FW, Grant SFA, Ferraro TN, Hakonarson H. Genetic Variation in . Genes (Basel). 2021 Sep 18;12(9). doi: 10.3390/genes12091441. PMID: 34573423; PMCID: PMC8472138.
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Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients.

American journal of medical genetics. Part A

Li D, Downes H, Hou C, Hakonarson H, Zackai EH, Schrier Vergano SA, Bhoj EJ.
PMID: 34881817
Am J Med Genet A. 2021 Dec 08; doi: 10.1002/ajmg.a.62597. Epub 2021 Dec 08.

BAFopathies are a heterogenous group of neurodevelopmental disorders caused by mutations in genes encoding subunits of the BAF complex, and they exhibit a broad clinical phenotypic spectrum. Pathogenic heterozygous variants in SMARCC2 have been implicated in Coffin-Siris syndrome 8...

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Li D, Downes H, Hou C, et al. Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. Am J Med Genet A. 2021;doi: 10.1002/ajmg.a.62597.
Li, D., Downes, H., Hou, C., Hakonarson, H., Zackai, E. H., Schrier Vergano, S. A., & Bhoj, E. J. (2021). Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. American journal of medical genetics. Part A, . https://doi.org/10.1002/ajmg.a.62597
Li, Dong, et al. "Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients." American journal of medical genetics. Part A vol. (2021). doi: https://doi.org/10.1002/ajmg.a.62597
Li D, Downes H, Hou C, Hakonarson H, Zackai EH, Schrier Vergano SA, Bhoj EJ. Further supporting SMARCC2-related neurodevelopmental disorder through exome analysis and reanalysis in two patients. Am J Med Genet A. 2021 Dec 08; doi: 10.1002/ajmg.a.62597. Epub 2021 Dec 08. PMID: 34881817.
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Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux.

Journal of the American Society of Nephrology : JASN

Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG.
PMID: 33597122
J Am Soc Nephrol. 2021 Feb 17; doi: 10.1681/ASN.2020050681. Epub 2021 Feb 17.

BACKGROUND: Vesicoureteral reflux (VUR) is a common, familial genitourinary disorder, and a major cause of pediatric urinary tract infection (UTI) and kidney failure. The genetic basis of VUR is not well understood.METHODS: A diagnostic analysis sought rare, pathogenic copy...

Cite
Verbitsky M, Krithivasan P, Batourina E, et al. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021;doi: 10.1681/ASN.2020050681.
Verbitsky, M., Krithivasan, P., Batourina, E., Khan, A., Graham, S. E., Marasà, M., Kim, H., Lim, T. Y., Weng, P. L., Sánchez-Rodríguez, E., Mitrotti, A., Ahram, D. F., Zanoni, F., Fasel, D. A., Westland, R., Sampson, M. G., Zhang, J. Y., Bodria, M., Kil, B. H., Shril, S., Gesualdo, L., Torri, F., Scolari, F., Izzi, C., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Barton, D. E., Dobson, M. G., Puri, P., Furth, S. L., Warady, B. A., Pisani, I., Fiaccadori, E., Allegri, L., Degl'Innocenti, M. L., Piaggio, G., Alam, S., Gigante, M., Zaza, G., Esposito, P., Lin, F., Simões-E-Silva, A. C., Brodkiewicz, A., Drozdz, D., Zachwieja, K., Miklaszewska, M., Szczepanska, M., Adamczyk, P., Tkaczyk, M., Tomczyk, D., Sikora, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Lozanovski, V. J., Gucev, Z., Ionita-Laza, I., Stanaway, I. B., Crosslin, D. R., Wong, C. S., Hildebrandt, F., Barasch, J., Kenny, E. E., Loos, R. J. F., Levy, B., Ghiggeri, G. M., Hakonarson, H., Latos-Bieleńska, A., Materna-Kiryluk, A., Darlow, J. M., Tasic, V., Willer, C., Kiryluk, K., Sanna-Cherchi, S., Mendelsohn, C. L., & Gharavi, A. G. (2021). Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. Journal of the American Society of Nephrology : JASN, . https://doi.org/10.1681/ASN.2020050681
Verbitsky, Miguel, et al. "Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux." Journal of the American Society of Nephrology : JASN vol. (2021). doi: https://doi.org/10.1681/ASN.2020050681
Verbitsky M, Krithivasan P, Batourina E, Khan A, Graham SE, Marasà M, Kim H, Lim TY, Weng PL, Sánchez-Rodríguez E, Mitrotti A, Ahram DF, Zanoni F, Fasel DA, Westland R, Sampson MG, Zhang JY, Bodria M, Kil BH, Shril S, Gesualdo L, Torri F, Scolari F, Izzi C, van Wijk JAE, Saraga M, Santoro D, Conti G, Barton DE, Dobson MG, Puri P, Furth SL, Warady BA, Pisani I, Fiaccadori E, Allegri L, Degl'Innocenti ML, Piaggio G, Alam S, Gigante M, Zaza G, Esposito P, Lin F, Simões-E-Silva AC, Brodkiewicz A, Drozdz D, Zachwieja K, Miklaszewska M, Szczepanska M, Adamczyk P, Tkaczyk M, Tomczyk D, Sikora P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Lozanovski VJ, Gucev Z, Ionita-Laza I, Stanaway IB, Crosslin DR, Wong CS, Hildebrandt F, Barasch J, Kenny EE, Loos RJF, Levy B, Ghiggeri GM, Hakonarson H, Latos-Bieleńska A, Materna-Kiryluk A, Darlow JM, Tasic V, Willer C, Kiryluk K, Sanna-Cherchi S, Mendelsohn CL, Gharavi AG. Copy Number Variant Analysis and Genome-wide Association Study Identify Loci with Large Effect for Vesicoureteral Reflux. J Am Soc Nephrol. 2021 Feb 17; doi: 10.1681/ASN.2020050681. Epub 2021 Feb 17. PMID: 33597122; PMCID: PMC8017540.
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