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Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology.

American journal of human genetics

Spracklen CN, Karaderi T, Yaghootkar H, Schurmann C, Fine RS, Kutalik Z, Preuss MH, Lu Y, Wittemans LBL, Adair LS, Allison M, Amin N, Auer PL, Bartz TM, Blüher M, Boehnke M, Borja JB, Bork-Jensen J, Broer L, Chasman DI, Chen YI, Chirstofidou P, Demirkan A, van Duijn CM, Feitosa MF, Garcia ME, Graff M, Grallert H, Grarup N, Guo X, Haesser J, Hansen T, Harris TB, Highland HM, Hong J, Ikram MA, Ingelsson E, Jackson R, Jousilahti P, Kähönen M, Kizer JR, Kovacs P, Kriebel J, Laakso M, Lange LA, Lehtimäki T, Li J, Li-Gao R, Lind L, Luan J, Lyytikäinen LP, MacGregor S, Mackey DA, Mahajan A, Mangino M, Männistö S, McCarthy MI, McKnight B, Medina-Gomez C, Meigs JB, Molnos S, Mook-Kanamori D, Morris AP, de Mutsert R, Nalls MA, Nedeljkovic I, North KE, Pennell CE, Pradhan AD, Province MA, Raitakari OT, Raulerson CK, Reiner AP, Ridker PM, Ripatti S, Roberston N, Rotter JI, Salomaa V, Sandoval-Zárate AA, Sitlani CM, Spector TD, Strauch K, Stumvoll M, Taylor KD, Thuesen B, Tönjes A, Uitterlinden AG, Venturini C, Walker M, Wang CA, Wang S, Wareham NJ, Willems SM, Willems van Dijk K, Wilson JG, Wu Y, Yao J, Young KL, Langenberg C, Frayling TM, Kilpeläinen TO, Lindgren CM, Loos RJF, Mohlke KL.
PMID: 31491410
Am J Hum Genet. 2019 Sep 05;105(3):670-671. doi: 10.1016/j.ajhg.2019.08.001.

No abstract available.

Cite
Spracklen CN, Karaderi T, Yaghootkar H, et al. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. Am J Hum Genet. 2019;105(3):670-671doi: 10.1016/j.ajhg.2019.08.001.
Spracklen, C. N., Karaderi, T., Yaghootkar, H., Schurmann, C., Fine, R. S., Kutalik, Z., Preuss, M. H., Lu, Y., Wittemans, L. B. L., Adair, L. S., Allison, M., Amin, N., Auer, P. L., Bartz, T. M., Blüher, M., Boehnke, M., Borja, J. B., Bork-Jensen, J., Broer, L., Chasman, D. I., Chen, Y. I., Chirstofidou, P., Demirkan, A., van Duijn, C. M., Feitosa, M. F., Garcia, M. E., Graff, M., Grallert, H., Grarup, N., Guo, X., Haesser, J., Hansen, T., Harris, T. B., Highland, H. M., Hong, J., Ikram, M. A., Ingelsson, E., Jackson, R., Jousilahti, P., Kähönen, M., Kizer, J. R., Kovacs, P., Kriebel, J., Laakso, M., Lange, L. A., Lehtimäki, T., Li, J., Li-Gao, R., Lind, L., Luan, J., Lyytikäinen, L. P., MacGregor, S., Mackey, D. A., Mahajan, A., Mangino, M., Männistö, S., McCarthy, M. I., McKnight, B., Medina-Gomez, C., Meigs, J. B., Molnos, S., Mook-Kanamori, D., Morris, A. P., de Mutsert, R., Nalls, M. A., Nedeljkovic, I., North, K. E., Pennell, C. E., Pradhan, A. D., Province, M. A., Raitakari, O. T., Raulerson, C. K., Reiner, A. P., Ridker, P. M., Ripatti, S., Roberston, N., Rotter, J. I., Salomaa, V., Sandoval-Zárate, A. A., Sitlani, C. M., Spector, T. D., Strauch, K., Stumvoll, M., Taylor, K. D., Thuesen, B., Tönjes, A., Uitterlinden, A. G., Venturini, C., Walker, M., Wang, C. A., Wang, S., Wareham, N. J., Willems, S. M., Willems van Dijk, K., Wilson, J. G., Wu, Y., Yao, J., Young, K. L., Langenberg, C., Frayling, T. M., Kilpeläinen, T. O., Lindgren, C. M., Loos, R. J. F., & Mohlke, K. L. (2019). Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. American journal of human genetics, 105(3), 670-671. https://doi.org/10.1016/j.ajhg.2019.08.001
Spracklen, Cassandra N, et al. "Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology." American journal of human genetics vol. 105,3 (2019): 670-671. doi: https://doi.org/10.1016/j.ajhg.2019.08.001
Spracklen CN, Karaderi T, Yaghootkar H, Schurmann C, Fine RS, Kutalik Z, Preuss MH, Lu Y, Wittemans LBL, Adair LS, Allison M, Amin N, Auer PL, Bartz TM, Blüher M, Boehnke M, Borja JB, Bork-Jensen J, Broer L, Chasman DI, Chen YI, Chirstofidou P, Demirkan A, van Duijn CM, Feitosa MF, Garcia ME, Graff M, Grallert H, Grarup N, Guo X, Haesser J, Hansen T, Harris TB, Highland HM, Hong J, Ikram MA, Ingelsson E, Jackson R, Jousilahti P, Kähönen M, Kizer JR, Kovacs P, Kriebel J, Laakso M, Lange LA, Lehtimäki T, Li J, Li-Gao R, Lind L, Luan J, Lyytikäinen LP, MacGregor S, Mackey DA, Mahajan A, Mangino M, Männistö S, McCarthy MI, McKnight B, Medina-Gomez C, Meigs JB, Molnos S, Mook-Kanamori D, Morris AP, de Mutsert R, Nalls MA, Nedeljkovic I, North KE, Pennell CE, Pradhan AD, Province MA, Raitakari OT, Raulerson CK, Reiner AP, Ridker PM, Ripatti S, Roberston N, Rotter JI, Salomaa V, Sandoval-Zárate AA, Sitlani CM, Spector TD, Strauch K, Stumvoll M, Taylor KD, Thuesen B, Tönjes A, Uitterlinden AG, Venturini C, Walker M, Wang CA, Wang S, Wareham NJ, Willems SM, Willems van Dijk K, Wilson JG, Wu Y, Yao J, Young KL, Langenberg C, Frayling TM, Kilpeläinen TO, Lindgren CM, Loos RJF, Mohlke KL. Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology. Am J Hum Genet. 2019 Sep 05;105(3):670-671. doi: 10.1016/j.ajhg.2019.08.001. PMID: 31491410; PMCID: PMC6732522.
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Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development.

JCI insight

Wang L, De Solis AJ, Goffer Y, Birkenbach KE, Engle SE, Tanis R, Levenson JM, Li X, Rausch R, Purohit M, Lee JY, Tan J, De Rosa MC, Doege CA, Aaron HL, Martins GJ, Brüning JC, Egli D, Costa R, Berbari N, Leibel RL, Stratigopoulos G.
PMID: 30728336
JCI Insight. 2019 Feb 07;4(3). doi: 10.1172/jci.insight.123337. Epub 2019 Feb 07.

Intronic polymorphisms in the α-ketoglutarate-dependent dioxygenase gene (FTO) that are highly associated with increased body weight have been implicated in the transcriptional control of a nearby ciliary gene, retinitis pigmentosa GTPase regulator-interacting protein-1 like (RPGRIP1L). Previous studies have shown...

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Wang L, De Solis AJ, Goffer Y, et al. Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development. JCI Insight. 2019;4(3)doi: 10.1172/jci.insight.123337.
Wang, L., De Solis, A. J., Goffer, Y., Birkenbach, K. E., Engle, S. E., Tanis, R., Levenson, J. M., Li, X., Rausch, R., Purohit, M., Lee, J. Y., Tan, J., De Rosa, M. C., Doege, C. A., Aaron, H. L., Martins, G. J., Brüning, J. C., Egli, D., Costa, R., Berbari, N., Leibel, R. L., & Stratigopoulos, G. (2019). Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development. JCI insight, 4(3), . https://doi.org/10.1172/jci.insight.123337
Wang, Liheng, et al. "Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development." JCI insight vol. 4,3 (2019). doi: https://doi.org/10.1172/jci.insight.123337
Wang L, De Solis AJ, Goffer Y, Birkenbach KE, Engle SE, Tanis R, Levenson JM, Li X, Rausch R, Purohit M, Lee JY, Tan J, De Rosa MC, Doege CA, Aaron HL, Martins GJ, Brüning JC, Egli D, Costa R, Berbari N, Leibel RL, Stratigopoulos G. Ciliary gene RPGRIP1L is required for hypothalamic arcuate neuron development. JCI Insight. 2019 Feb 07;4(3). doi: 10.1172/jci.insight.123337. Epub 2019 Feb 07. PMID: 30728336; PMCID: PMC6413800.
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The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study.

JAMA psychiatry

Giannakopoulou O, Lin K, Meng X, Su MH, Kuo PH, Peterson RE, Awasthi S, Moscati A, Coleman JRI, Bass N, Millwood IY, Chen Y, Chen Z, Chen HC, Lu ML, Huang MC, Chen CH, Stahl EA, Loos RJF, Mullins N, Ursano RJ, Kessler RC, Stein MB, Sen S, Scott LJ, Burmeister M, Fang Y, Tyrrell J, Jiang Y, Tian C, McIntosh AM, Ripke S, Dunn EC, Kendler KS, Walters RG, Lewis CM, Kuchenbaecker K.
PMID: 34586374
JAMA Psychiatry. 2021 Nov 01;78(11):1258-1269. doi: 10.1001/jamapsychiatry.2021.2099.

IMPORTANCE: Most previous genome-wide association studies (GWAS) of depression have used data from individuals of European descent. This limits the understanding of the underlying biology of depression and raises questions about the transferability of findings between populations.OBJECTIVE: To investigate...

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Giannakopoulou O, Lin K, Meng X, et al. The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study. JAMA Psychiatry. 2021;78(11):1258-1269doi: 10.1001/jamapsychiatry.2021.2099.
Giannakopoulou, O., Lin, K., Meng, X., Su, M. H., Kuo, P. H., Peterson, R. E., Awasthi, S., Moscati, A., Coleman, J. R. I., Bass, N., Millwood, I. Y., Chen, Y., Chen, Z., Chen, H. C., Lu, M. L., Huang, M. C., Chen, C. H., Stahl, E. A., Loos, R. J. F., Mullins, N., Ursano, R. J., Kessler, R. C., Stein, M. B., Sen, S., Scott, L. J., Burmeister, M., Fang, Y., Tyrrell, J., Jiang, Y., Tian, C., McIntosh, A. M., Ripke, S., Dunn, E. C., Kendler, K. S., Walters, R. G., Lewis, C. M., Kuchenbaecker, K. (2021). The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study. JAMA psychiatry, 78(11), 1258-1269. https://doi.org/10.1001/jamapsychiatry.2021.2099
Giannakopoulou, Olga, et al. "The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study." JAMA psychiatry vol. 78,11 (2021): 1258-1269. doi: https://doi.org/10.1001/jamapsychiatry.2021.2099
Giannakopoulou O, Lin K, Meng X, Su MH, Kuo PH, Peterson RE, Awasthi S, Moscati A, Coleman JRI, Bass N, Millwood IY, Chen Y, Chen Z, Chen HC, Lu ML, Huang MC, Chen CH, Stahl EA, Loos RJF, Mullins N, Ursano RJ, Kessler RC, Stein MB, Sen S, Scott LJ, Burmeister M, Fang Y, Tyrrell J, Jiang Y, Tian C, McIntosh AM, Ripke S, Dunn EC, Kendler KS, Walters RG, Lewis CM, Kuchenbaecker K. The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study. JAMA Psychiatry. 2021 Nov 01;78(11):1258-1269. doi: 10.1001/jamapsychiatry.2021.2099. PMID: 34586374; PMCID: PMC8482304.
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CDH1 pathogenic variants and cancer risk in an unselected patient population.

Familial cancer

Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS.
PMID: 33886068
Fam Cancer. 2021 Apr 22; doi: 10.1007/s10689-021-00257-x. Epub 2021 Apr 22.

CDH1 pathogenic variants confer a markedly elevated lifetime risk of developing diffuse gastric cancer (DGC) and lobular breast cancer (LBC). The aim of this study was to evaluate the prevalence and clinical impact of CDH1 pathogenic variants in the...

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Bar-Mashiah A, Soper ER, Cullina S, et al. CDH1 pathogenic variants and cancer risk in an unselected patient population. Fam Cancer. 2021;doi: 10.1007/s10689-021-00257-x.
Bar-Mashiah, A., Soper, E. R., Cullina, S., Belbin, G. M., Kenny, E. E., Lucas, A. L., & Abul-Husn, N. S. (2021). CDH1 pathogenic variants and cancer risk in an unselected patient population. Familial cancer, . https://doi.org/10.1007/s10689-021-00257-x
Bar-Mashiah, Ariel, et al. "CDH1 pathogenic variants and cancer risk in an unselected patient population." Familial cancer vol. (2021). doi: https://doi.org/10.1007/s10689-021-00257-x
Bar-Mashiah A, Soper ER, Cullina S, Belbin GM, Kenny EE, Lucas AL, Abul-Husn NS. CDH1 pathogenic variants and cancer risk in an unselected patient population. Fam Cancer. 2021 Apr 22; doi: 10.1007/s10689-021-00257-x. Epub 2021 Apr 22. PMID: 33886068; PMCID: PMC8531152.
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Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

JCO precision oncology

Rosenblum RE, Ang C, Suckiel SA, Soper ER, Sigireddi MR, Cullina S, Belbin GM, Lucas AL, Kenny EE, Abul-Husn NS.
PMID: 33283134
JCO Precis Oncol. 2020 Nov 23;4. doi: 10.1200/PO.20.00290. eCollection 2020.

PURPOSE: Limited data are available on the prevalence and clinical impact of Lynch syndrome (LS)-associated genomic variants in non-European ancestry populations. We identified and characterized individuals harboring LS-associated variants in the ancestrally diverse BioPATIENTS AND METHODS: Exome sequence data...

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Rosenblum RE, Ang C, Suckiel SA, et al. Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank. JCO Precis Oncol. 2020;4doi: 10.1200/PO.20.00290.
Rosenblum, R. E., Ang, C., Suckiel, S. A., Soper, E. R., Sigireddi, M. R., Cullina, S., Belbin, G. M., Lucas, A. L., Kenny, E. E., & Abul-Husn, N. S. (2020). Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank. JCO precision oncology, 4. https://doi.org/10.1200/PO.20.00290
Rosenblum, Rachel E, et al. "Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank." JCO precision oncology vol. 4 (2020). doi: https://doi.org/10.1200/PO.20.00290
Rosenblum RE, Ang C, Suckiel SA, Soper ER, Sigireddi MR, Cullina S, Belbin GM, Lucas AL, Kenny EE, Abul-Husn NS. Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank. JCO Precis Oncol. 2020 Nov 23;4. doi: 10.1200/PO.20.00290. eCollection 2020. PMID: 33283134; PMCID: PMC7713527.
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Personalized Medicine and the Power of Electronic Health Records.

Cell

Abul-Husn NS, Kenny EE.
PMID: 30901549
Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039.

Personalized medicine has largely been enabled by the integration of genomic and other data with electronic health records (EHRs) in the United States and elsewhere. Increased EHR adoption across various clinical settings and the establishment of EHR-linked population-based biobanks...

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Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019;177(1):58-69doi: 10.1016/j.cell.2019.02.039.
Abul-Husn, N. S., & Kenny, E. E. (2019). Personalized Medicine and the Power of Electronic Health Records. Cell, 177(1), 58-69. https://doi.org/10.1016/j.cell.2019.02.039
Abul-Husn, Noura S, and Kenny, Eimear E. "Personalized Medicine and the Power of Electronic Health Records." Cell vol. 177,1 (2019): 58-69. doi: https://doi.org/10.1016/j.cell.2019.02.039
Abul-Husn NS, Kenny EE. Personalized Medicine and the Power of Electronic Health Records. Cell. 2019 Mar 21;177(1):58-69. doi: 10.1016/j.cell.2019.02.039. PMID: 30901549; PMCID: PMC6921466.
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