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Genetic polymorphisms and associated susceptibility to asthma.

International journal of general medicine

March ME, Sleiman PM, Hakonarson H.
PMID: 23637549
Int J Gen Med. 2013 Apr 17;6:253-65. doi: 10.2147/IJGM.S28156. Print 2013.

As complex common diseases, asthma and allergic diseases are caused by the interaction of multiple genetic variants with a variety of environmental factors. Candidate-gene studies have examined the involvement of a very large list of genes in asthma and...

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March ME, Sleiman PM, Hakonarson H. Genetic polymorphisms and associated susceptibility to asthma. Int J Gen Med. 2013;6:253-65doi: 10.2147/IJGM.S28156.
March, M. E., Sleiman, P. M., & Hakonarson, H. (2013). Genetic polymorphisms and associated susceptibility to asthma. International journal of general medicine, 6253-65. https://doi.org/10.2147/IJGM.S28156
March, Michael E, et al. "Genetic polymorphisms and associated susceptibility to asthma." International journal of general medicine vol. 6 (2013): 253-65. doi: https://doi.org/10.2147/IJGM.S28156
March ME, Sleiman PM, Hakonarson H. Genetic polymorphisms and associated susceptibility to asthma. Int J Gen Med. 2013 Apr 17;6:253-65. doi: 10.2147/IJGM.S28156. Print 2013. PMID: 23637549; PMCID: PMC3636804.
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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.

Genome medicine

O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ.
PMID: 23537139
Genome Med. 2013 Mar 27;5(3):28. doi: 10.1186/gm432. eCollection 2013.

BACKGROUND: To facilitate the clinical implementation of genomic medicine by next-generation sequencing, it will be critically important to obtain accurate and consistent variant calls on personal genomes. Multiple software tools for variant calling are available, but it is unclear...

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O'Rawe J, Jiang T, Sun G, et al. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med. 2013;5(3):28doi: 10.1186/gm432.
O'Rawe, J., Jiang, T., Sun, G., Wu, Y., Wang, W., Hu, J., Bodily, P., Tian, L., Hakonarson, H., Johnson, W. E., Wei, Z., Wang, K., & Lyon, G. J. (2013). Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome medicine, 5(3), 28. https://doi.org/10.1186/gm432
O'Rawe, Jason, et al. "Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing." Genome medicine vol. 5,3 (2013): 28. doi: https://doi.org/10.1186/gm432
O'Rawe J, Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson WE, Wei Z, Wang K, Lyon GJ. Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med. 2013 Mar 27;5(3):28. doi: 10.1186/gm432. eCollection 2013. PMID: 23537139; PMCID: PMC3706896.
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Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene.

Nature communications

van Ingen G, Li J, Goedegebure A, Pandey R, Li YR, March ME, Jaddoe VW, Bakay M, Mentch FD, Thomas K, Wei Z, Chang X, Hain HS, Uitterlinden AG, Moll HA, van Duijn CM, Rivadeneira F, Raat H, Baatenburg de Jong RJ, Sleiman PM, van der Schroeff MP, Hakonarson H.
PMID: 27677580
Nat Commun. 2016 Sep 28;7:12792. doi: 10.1038/ncomms12792.

Acute otitis media (AOM) is among the most common pediatric diseases, and the most frequent reason for antibiotic treatment in children. Risk of AOM is dependent on environmental and host factors, as well as a significant genetic component. We...

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van Ingen G, Li J, Goedegebure A, et al. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nat Commun. 2016;7:12792doi: 10.1038/ncomms12792.
van Ingen, G., Li, J., Goedegebure, A., Pandey, R., Li, Y. R., March, M. E., Jaddoe, V. W., Bakay, M., Mentch, F. D., Thomas, K., Wei, Z., Chang, X., Hain, H. S., Uitterlinden, A. G., Moll, H. A., van Duijn, C. M., Rivadeneira, F., Raat, H., Baatenburg de Jong, R. J., Sleiman, P. M., van der Schroeff, M. P., & Hakonarson, H. (2016). Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nature communications, 712792. https://doi.org/10.1038/ncomms12792
van Ingen, Gijs, et al. "Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene." Nature communications vol. 7 (2016): 12792. doi: https://doi.org/10.1038/ncomms12792
van Ingen G, Li J, Goedegebure A, Pandey R, Li YR, March ME, Jaddoe VW, Bakay M, Mentch FD, Thomas K, Wei Z, Chang X, Hain HS, Uitterlinden AG, Moll HA, van Duijn CM, Rivadeneira F, Raat H, Baatenburg de Jong RJ, Sleiman PM, van der Schroeff MP, Hakonarson H. Genome-wide association study for acute otitis media in children identifies FNDC1 as disease contributing gene. Nat Commun. 2016 Sep 28;7:12792. doi: 10.1038/ncomms12792. PMID: 27677580; PMCID: PMC5052699.
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A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Scientific reports

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H.
PMID: 28630421
Sci Rep. 2017 Jun 19;7(1):3847. doi: 10.1038/s41598-017-01674-8.

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell...

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Li D, Chang X, Connolly JJ, et al. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 2017;7(1):3847doi: 10.1038/s41598-017-01674-8.
Li, D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., Mentch, F. D., Thomas, K. A., Chiavacci, R. M., Cone, R., Li, B., Sleiman, P. A., & Hakonarson, H. (2017). A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific reports, 7(1), 3847. https://doi.org/10.1038/s41598-017-01674-8
Li, Dong, et al. "A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling." Scientific reports vol. 7,1 (2017): 3847. doi: https://doi.org/10.1038/s41598-017-01674-8
Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 2017 Jun 19;7(1):3847. doi: 10.1038/s41598-017-01674-8. PMID: 28630421; PMCID: PMC5476671.
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Practical considerations in genomic decision support: The eMERGE experience.

Journal of pathology informatics

Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J.
PMID: 26605115
J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015.

BACKGROUND: Genomic medicine has the potential to improve care by tailoring treatments to the individual. There is consensus in the literature that pharmacogenomics (PGx) may be an ideal starting point for real-world implementation, due to the presence of well-characterized...

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Herr TM, Bielinski SJ, Bottinger E, et al. Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 2015;6:50doi: 10.4103/2153-3539.165999.
Herr, T. M., Bielinski, S. J., Bottinger, E., Brautbar, A., Brilliant, M., Chute, C. G., Cobb, B. L., Denny, J. C., Hakonarson, H., Hartzler, A. L., Hripcsak, G., Kannry, J., Kohane, I. S., Kullo, I. J., Lin, S., Manzi, S., Marsolo, K., Overby, C. L., Pathak, J., Peissig, P., Pulley, J., Ralston, J., Rasmussen, L., Roden, D. M., Tromp, G., Uphoff, T., Weng, C., Wolf, W., Williams, M. S., & Starren, J. (2015). Practical considerations in genomic decision support: The eMERGE experience. Journal of pathology informatics, 650. https://doi.org/10.4103/2153-3539.165999
Herr, Timothy M, et al. "Practical considerations in genomic decision support: The eMERGE experience." Journal of pathology informatics vol. 6 (2015): 50. doi: https://doi.org/10.4103/2153-3539.165999
Herr TM, Bielinski SJ, Bottinger E, Brautbar A, Brilliant M, Chute CG, Cobb BL, Denny JC, Hakonarson H, Hartzler AL, Hripcsak G, Kannry J, Kohane IS, Kullo IJ, Lin S, Manzi S, Marsolo K, Overby CL, Pathak J, Peissig P, Pulley J, Ralston J, Rasmussen L, Roden DM, Tromp G, Uphoff T, Weng C, Wolf W, Williams MS, Starren J. Practical considerations in genomic decision support: The eMERGE experience. J Pathol Inform. 2015 Sep 28;6:50. doi: 10.4103/2153-3539.165999. eCollection 2015. PMID: 26605115; PMCID: PMC4629307.
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[A mutation detection in a transcription factor for adipocyte development in children with severe obesity.].

Laeknabladid

Agústsson TT, Hákonarson H, Olafsson I, Hjaltadóttir G, Thornórsson AV.
PMID: 16940676
Laeknabladid. 2001 Feb;87(2):119-24.

OBJECTIVE: A substantial proportion of human obesity may be explained by genetic variability. Researchers have tried to identify the important genes in obesity with little sucsess. PPARg2 (peroxisome proliferator activated receptor g 2) is a transcription factor of the...

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Agústsson TT, Hákonarson H, Olafsson I, et al. [A mutation detection in a transcription factor for adipocyte development in children with severe obesity.]. Laeknabladid. 2001;87(2):119-24
Agústsson, T. T., Hákonarson, H., Olafsson, I., Hjaltadóttir, G., & Thornórsson, A. V. (2001). [A mutation detection in a transcription factor for adipocyte development in children with severe obesity.]. Laeknabladid, 87(2), 119-24.
Agústsson, T T, et al. "[A mutation detection in a transcription factor for adipocyte development in children with severe obesity.]." Laeknabladid vol. 87,2 (2001): 119-24.
Agústsson TT, Hákonarson H, Olafsson I, Hjaltadóttir G, Thornórsson AV. [A mutation detection in a transcription factor for adipocyte development in children with severe obesity.]. Laeknabladid. 2001 Feb;87(2):119-24. Icelandic. PMID: 16940676.
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Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

Nature genetics

Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S.
PMID: 30816350
Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0.

In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the...

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Verbitsky M, Westland R, Perez A, et al. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019;51(4):764doi: 10.1038/s41588-019-0376-0.
Verbitsky, M., Westland, R., Perez, A., Kiryluk, K., Liu, Q., Krithivasan, P., Mitrotti, A., Fasel, D. A., Batourina, E., Sampson, M. G., Bodria, M., Werth, M., Kao, C., Martino, J., Capone, V. P., Vivante, A., Shril, S., Kil, B. H., Marasa, M., Zhang, J. Y., Na, Y. J., Lim, T. Y., Ahram, D., Weng, P. L., Heinzen, E. L., Carrea, A., Piaggio, G., Gesualdo, L., Manca, V., Masnata, G., Gigante, M., Cusi, D., Izzi, C., Scolari, F., van Wijk, J. A. E., Saraga, M., Santoro, D., Conti, G., Zamboli, P., White, H., Drozdz, D., Zachwieja, K., Miklaszewska, M., Tkaczyk, M., Tomczyk, D., Krakowska, A., Sikora, P., Jarmoliński, T., Borszewska-Kornacka, M. K., Pawluch, R., Szczepanska, M., Adamczyk, P., Mizerska-Wasiak, M., Krzemien, G., Szmigielska, A., Zaniew, M., Dobson, M. G., Darlow, J. M., Puri, P., Barton, D. E., Furth, S. L., Warady, B. A., Gucev, Z., Lozanovski, V. J., Tasic, V., Pisani, I., Allegri, L., Rodas, L. M., Campistol, J. M., Jeanpierre, C., Alam, S., Casale, P., Wong, C. S., Lin, F., Miranda, D. M., Oliveira, E. A., Simoes-E-Silva, A. C., Barasch, J. M., Levy, B., Wu, N., Hildebrandt, F., Ghiggeri, G. M., Latos-Bielenska, A., Materna-Kiryluk, A., Zhang, F., Hakonarson, H., Papaioannou, V. E., Mendelsohn, C. L., Gharavi, A. G., & Sanna-Cherchi, S. (2019). Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nature genetics, 51(4), 764. https://doi.org/10.1038/s41588-019-0376-0
Verbitsky, Miguel, et al. "Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract." Nature genetics vol. 51,4 (2019): 764. doi: https://doi.org/10.1038/s41588-019-0376-0
Verbitsky M, Westland R, Perez A, Kiryluk K, Liu Q, Krithivasan P, Mitrotti A, Fasel DA, Batourina E, Sampson MG, Bodria M, Werth M, Kao C, Martino J, Capone VP, Vivante A, Shril S, Kil BH, Marasa M, Zhang JY, Na YJ, Lim TY, Ahram D, Weng PL, Heinzen EL, Carrea A, Piaggio G, Gesualdo L, Manca V, Masnata G, Gigante M, Cusi D, Izzi C, Scolari F, van Wijk JAE, Saraga M, Santoro D, Conti G, Zamboli P, White H, Drozdz D, Zachwieja K, Miklaszewska M, Tkaczyk M, Tomczyk D, Krakowska A, Sikora P, Jarmoliński T, Borszewska-Kornacka MK, Pawluch R, Szczepanska M, Adamczyk P, Mizerska-Wasiak M, Krzemien G, Szmigielska A, Zaniew M, Dobson MG, Darlow JM, Puri P, Barton DE, Furth SL, Warady BA, Gucev Z, Lozanovski VJ, Tasic V, Pisani I, Allegri L, Rodas LM, Campistol JM, Jeanpierre C, Alam S, Casale P, Wong CS, Lin F, Miranda DM, Oliveira EA, Simoes-E-Silva AC, Barasch JM, Levy B, Wu N, Hildebrandt F, Ghiggeri GM, Latos-Bielenska A, Materna-Kiryluk A, Zhang F, Hakonarson H, Papaioannou VE, Mendelsohn CL, Gharavi AG, Sanna-Cherchi S. Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract. Nat Genet. 2019 Apr;51(4):764. doi: 10.1038/s41588-019-0376-0. PMID: 30816350.
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Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling.

Scientific reports

Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H.
PMID: 28827695
Sci Rep. 2017 Aug 21;7(1):8379. doi: 10.1038/s41598-017-06409-3.

A correction to this article has been published and is linked from the HTML version of this paper. The error has been fixed in the paper.

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Li D, Chang X, Connolly JJ, et al. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 2017;7(1):8379doi: 10.1038/s41598-017-06409-3.
Li, D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., Mentch, F. D., Thomas, K. A., Chiavacci, R. M., Cone, R., Li, B., Sleiman, P. A., & Hakonarson, H. (2017). Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Scientific reports, 7(1), 8379. https://doi.org/10.1038/s41598-017-06409-3
Li, Dong, et al. "Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling." Scientific reports vol. 7,1 (2017): 8379. doi: https://doi.org/10.1038/s41598-017-06409-3
Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ, Robinson N, Abrams D, Li YR, Bradfield JP, Kim CE, Li J, Wang F, Snyder J, Lemma M, Hou C, Wei Z, Guo Y, Qiu H, Mentch FD, Thomas KA, Chiavacci RM, Cone R, Li B, Sleiman PA, Hakonarson H. Erratum: A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 2017 Aug 21;7(1):8379. doi: 10.1038/s41598-017-06409-3. PMID: 28827695; PMCID: PMC5566434.
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Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants.

Annals of translational medicine

Li D, Tian L, Hakonarson H.
PMID: 29955586
Ann Transl Med. 2018 Apr;6(7):126. doi: 10.21037/atm.2018.01.14.

No abstract available.

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Li D, Tian L, Hakonarson H. Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Ann Transl Med. 2018;6(7):126doi: 10.21037/atm.2018.01.14.
Li, D., Tian, L., & Hakonarson, H. (2018). Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Annals of translational medicine, 6(7), 126. https://doi.org/10.21037/atm.2018.01.14
Li, Dong, et al. "Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants." Annals of translational medicine vol. 6,7 (2018): 126. doi: https://doi.org/10.21037/atm.2018.01.14
Li D, Tian L, Hakonarson H. Increasing diagnostic yield by RNA-Sequencing in rare disease-bypass hurdles of interpreting intronic or splice-altering variants. Ann Transl Med. 2018 Apr;6(7):126. doi: 10.21037/atm.2018.01.14. PMID: 29955586; PMCID: PMC6015936.
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Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils.

Frontiers in genetics

Li J, Yuan X, March ME, Yao X, Sun Y, Chang X, Hakonarson H, Xia Q, Meng X, Li J.
PMID: 30972099
Front Genet. 2019 Mar 27;10:181. doi: 10.3389/fgene.2019.00181. eCollection 2019.

Juvenile idiopathic arthritis (JIA) is the most common chronic rheumatic disease among children which could cause severe disability. Genomic studies have discovered substantial number of risk loci for JIA, however, the mechanism of how these loci affect JIA development...

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Li J, Yuan X, March ME, et al. Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. Front Genet. 2019;10:181doi: 10.3389/fgene.2019.00181.
Li, J., Yuan, X., March, M. E., Yao, X., Sun, Y., Chang, X., Hakonarson, H., Xia, Q., Meng, X., & Li, J. (2019). Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. Frontiers in genetics, 10181. https://doi.org/10.3389/fgene.2019.00181
Li, Junyi, et al. "Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils." Frontiers in genetics vol. 10 (2019): 181. doi: https://doi.org/10.3389/fgene.2019.00181
Li J, Yuan X, March ME, Yao X, Sun Y, Chang X, Hakonarson H, Xia Q, Meng X, Li J. Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. Front Genet. 2019 Mar 27;10:181. doi: 10.3389/fgene.2019.00181. eCollection 2019. PMID: 30972099; PMCID: PMC6445851.
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Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs.

Healthcare (Basel, Switzerland)

Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS.
PMID: 30011878
Healthcare (Basel). 2018 Jul 13;6(3). doi: 10.3390/healthcare6030083.

Genomic medicine is moving from research to the clinic. There is a lack of evidence about the impact of genomic medicine interventions on health outcomes. This is due in part to a lack of standardized outcome measures that can...

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Williams JL, Chung WK, Fedotov A, et al. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018;6(3)doi: 10.3390/healthcare6030083.
Williams, J. L., Chung, W. K., Fedotov, A., Kiryluk, K., Weng, C., Connolly, J. J., Harr, M., Hakonarson, H., Leppig, K. A., Larson, E. B., Jarvik, G. P., Veenstra, D. L., Hoell, C., Smith, M. E., Holm, I. A., Peterson, J. F., & Williams, M. S. (2018). Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel, Switzerland), 6(3), . https://doi.org/10.3390/healthcare6030083
Williams, Janet L, et al. "Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs." Healthcare (Basel, Switzerland) vol. 6,3 (2018). doi: https://doi.org/10.3390/healthcare6030083
Williams JL, Chung WK, Fedotov A, Kiryluk K, Weng C, Connolly JJ, Harr M, Hakonarson H, Leppig KA, Larson EB, Jarvik GP, Veenstra DL, Hoell C, Smith ME, Holm IA, Peterson JF, Williams MS. Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs. Healthcare (Basel). 2018 Jul 13;6(3). doi: 10.3390/healthcare6030083. PMID: 30011878; PMCID: PMC6164315.
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Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence.

American journal of medical genetics. Part A

Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN.
PMID: 34291880
Am J Med Genet A. 2021 Dec;185(12):3694-3700. doi: 10.1002/ajmg.a.62430. Epub 2021 Jul 22.

Robin sequence (RS) has many genetic and nongenetic causes, including isolated Robin sequence (iRS), Stickler syndrome (SS), and other syndromes (SyndRS). The purpose of this study was to determine if the presence and type of cleft palate varies between...

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Wenger TL, Perkins J, Parish-Morris J, et al. Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. Am J Med Genet A. 2021;185(12):3694-3700doi: 10.1002/ajmg.a.62430.
Wenger, T. L., Perkins, J., Parish-Morris, J., Hing, A. V., Chen, M. L., Cielo, C. M., Li, D., Bhoj, E. J., Hakonarson, H., Zackai, E., McDonald-McGinn, D. M., Taylor, J. A., Jackson, O., Sie, K., Bly, R., Dahl, J., & Evans, K. N. (2021). Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. American journal of medical genetics. Part A, 185(12), 3694-3700. https://doi.org/10.1002/ajmg.a.62430
Wenger, Tara L, et al. "Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence." American journal of medical genetics. Part A vol. 185,12 (2021): 3694-3700. doi: https://doi.org/10.1002/ajmg.a.62430
Wenger TL, Perkins J, Parish-Morris J, Hing AV, Chen ML, Cielo CM, Li D, Bhoj EJ, Hakonarson H, Zackai E, McDonald-McGinn DM, Taylor JA, Jackson O, Sie K, Bly R, Dahl J, Evans KN. Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequence. Am J Med Genet A. 2021 Dec;185(12):3694-3700. doi: 10.1002/ajmg.a.62430. Epub 2021 Jul 22. PMID: 34291880.
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