Congenital cataracts: de novo gene conversion event in CRYBB2

por Garnai, Sarah J., Huyghe, Jeroen R., Reed, David M., Scott, Kathleen M., Liebmann, Jeffrey M., Boehnke, Michael, Richards, Julia E., Ritch, Robert, Pawar, Hemant
Publicado 2014

Ethanol exposure drives colon location specific cell composition changes in a normal colon crypt 3D organoid model

por Devall, Matthew, Plummer, Sarah J., Bryant, Jennifer, Jennelle, Lucas T., Eaton, Stephen, Dampier, Christopher H., Huyghe, Jeroen R., Peters, Ulrike, Powell, Steven M., Casey, Graham
Publicado 2021

Host genetic factors associated to proviral load in Peruvian HTLV-1 infected

por Talledo, Michael, López1, Giovanni, Huyghe, Jeroen R, Verdonck, Kristien, González, Elsa, Tipismana, Martin, Clark, Daniel, Vanham, Guido, Gotuzzo, Eduardo, Van Camp, Guy, Van Laer, Lut
Publicado 2011

One-carbon metabolism biomarkers and genetic variants in relation to colorectal cancer risk by KRAS and BRAF mutation status

por Myte, Robin, Gylling, Björn, Häggström, Jenny, Schneede, Jörn, Löfgren-Burström, Anna, Huyghe, Jeroen R., Hallmans, Göran, Meyer, Klaus, Johansson, Ingegerd, Ueland, Per Magne, Palmqvist, Richard, Van Guelpen, Bethany
Publicado 2018

HLA-G 14 bp insertion/deletion polymorphism is not associated to proviral load levels and presence of HAM/TSP in Peruvian HTLV-1 infected individuals

por Morales, Sandra, Rosado, Jason, López1, Giovanni, Huyghe, Jeroen, Verdonck, Kristien, González, Elsa, Tipismana, Martin, Clark, Daniel, Vanham, Guido, Gotuzzo, Eduardo, Van Camp, Guy, Van laer, Lut, Talledo, Michael
Publicado 2011

T cell‐inflamed gene expression profile is associated with favorable disease‐specific survival in non‐hypermutated microsatellite‐stable colorectal cancer patients

por Yin, Hang, Harrison, Tabitha A., Thomas, Sushma S., Sather, Cassie L., Koehne, Amanda L., Malen, Rachel C., Reedy, Adriana M., Wurscher, Michelle A., Hsu, Li, Phipps, Amanda I., Zaidi, Syed H. E., Newcomb, Polly A., Peters, Ulrike, Huyghe, Jeroen R.
Publicado 2022

Autosomal Dominant Diabetes Arising From a Wolfram Syndrome 1 Mutation

por Bonnycastle, Lori L., Chines, Peter S., Hara, Takashi, Huyghe, Jeroen R., Swift, Amy J., Heikinheimo, Pirkko, Mahadevan, Jana, Peltonen, Sirkku, Huopio, Hanna, Nuutila, Pirjo, Narisu, Narisu, Goldfeder, Rachel L., Stitzel, Michael L., Lu, Simin, Boehnke, Michael, Urano, Fumihiko, Collins, Francis S., Laakso, Markku
Publicado 2013

A general framework for functionally informed set-based analysis: Application to a large-scale colorectal cancer study

por Dong, Xinyuan, Su, Yu-Ru, Barfield, Richard, Bien, Stephanie A., He, Qianchuan, Harrison, Tabitha A., Huyghe, Jeroen R., Keku, Temitope O., Lindor, Noralane M., Schafmayer, Clemens, Chan, Andrew T., Gruber, Stephen B., Jenkins, Mark A., Kooperberg, Charles, Peters, Ulrike, Hsu, Li
Publicado 2020

Genetic Effects on Transcriptome Profiles in Colon Epithelium Provide Functional Insights for Genetic Risk Loci

por Díez-Obrero, Virginia, Dampier, Christopher H., Moratalla-Navarro, Ferran, Devall, Matthew, Plummer, Sarah J., Díez-Villanueva, Anna, Peters, Ulrike, Bien, Stephanie, Huyghe, Jeroen R., Kundaje, Anshul, Ibáñez-Sanz, Gemma, Guinó, Elisabeth, Obón-Santacana, Mireia, Carreras-Torres, Robert, Casey, Graham, Moreno, Víctor
Publicado 2021

Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study

por Davis, James P., Huyghe, Jeroen R., Locke, Adam E., Jackson, Anne U., Sim, Xueling, Stringham, Heather M., Teslovich, Tanya M., Welch, Ryan P., Fuchsberger, Christian, Narisu, Narisu, Chines, Peter S., Kangas, Antti J., Soininen, Pasi, Ala-Korpela, Mika, Kuusisto, Johanna, Collins, Francis S., Laakso, Markku, Boehnke, Michael, Mohlke, Karen L.
Publicado 2017

Assessment of a Polygenic Risk Score for Colorectal Cancer to Predict Risk of Lynch Syndrome Colorectal Cancer

por Jenkins, Mark A, Buchanan, Daniel D, Lai, John, Makalic, Enes, Dite, Gillian S, Win, Aung K, Clendenning, Mark, Winship, Ingrid M, Hayes, Richard B, Huyghe, Jeroen R, Peters, Ulrike, Gallinger, Steven, Marchand, Loïc Le, Figueiredo, Jane C, Pai, Rish K, Newcomb, Polly A, Church, James M, Casey, Graham, Hopper, John L
Publicado 2021

Identifying metabolic features of colorectal cancer liability using Mendelian randomization

por Bull, Caroline J., Hazelwood, Emma, Bell, Joshua A., Tan, Vanessa Y., Constantinescu, Andrei-Emil, Borges, Maria Carolina, Legge, Danny N., Burrows, Kimberly, Huyghe, Jeroen R., Brenner, Hermann, Castellví-Bel, Sergi, Chan, Andrew T, Kweon, Sun-Seog, Marchand, Loic Le, Li, Li, Cheng, Iona, Pai, Rish K., Figueiredo, Jane C., Murphy, Neil, Gunter, Marc J., Timpson, Nicholas J., Vincent, Emma E.
Publicado 2023

Association between germline variants and somatic mutations in colorectal cancer

por Barfield, Richard, Qu, Conghui, Steinfelder, Robert S., Zeng, Chenjie, Harrison, Tabitha A., Brezina, Stefanie, Buchanan, Daniel D., Campbell, Peter T., Casey, Graham, Gallinger, Steven, Giannakis, Marios, Gruber, Stephen B., Gsur, Andrea, Hsu, Li, Huyghe, Jeroen R., Moreno, Victor, Newcomb, Polly A., Ogino, Shuji, Phipps, Amanda I., Slattery, Martha L., Thibodeau, Stephen N., Trinh, Quang M., Toland, Amanda E., Hudson, Thomas J., Sun, Wei, Zaidi, Syed H., Peters, Ulrike
Publicado 2022

The genetic regulatory signature of type 2 diabetes in human skeletal muscle

por Scott, Laura J., Erdos, Michael R., Huyghe, Jeroen R., Welch, Ryan P., Beck, Andrew T., Wolford, Brooke N., Chines, Peter S., Didion, John P., Narisu, Narisu, Stringham, Heather M., Taylor, D. Leland, Jackson, Anne U., Vadlamudi, Swarooparani, Bonnycastle, Lori L., Kinnunen, Leena, Saramies, Jouko, Sundvall, Jouko, Albanus, Ricardo D'Oliveira, Kiseleva, Anna, Hensley, John, Crawford, Gregory E., Jiang, Hui, Wen, Xiaoquan, Watanabe, Richard M., Lakka, Timo A., Mohlke, Karen L., Laakso, Markku, Tuomilehto, Jaakko, Koistinen, Heikki A., Boehnke, Michael, Collins, Francis S., Parker, Stephen C. J.
Publicado 2016

Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-ba...

por Fransen, Erik, Topsakal, Vedat, Hendrickx, Jan-Jaap, Van Laer, Lut, Huyghe, Jeroen R., Van Eyken, Els, Lemkens, Nele, Hannula, Samuli, Mäki-Torkko, Elina, Jensen, Mona, Demeester, Kelly, Tropitzsch, Anke, Bonaconsa, Amanda, Mazzoli, Manuela, Espeso, Angeles, Verbruggen, Katia, Huyghe, Joke, Huygen, Patrick L. M., Kunst, Sylvia, Manninen, Minna, Diaz-Lacava, Amalia, Steffens, Michael, Wienker, Thomas F., Pyykkö, Ilmari, Cremers, Cor W. R. J., Kremer, Hannie, Dhooge, Ingeborg, Stephens, Dafydd, Orzan, Eva, Pfister, Markus, Bille, Michael, Parving, Agnete, Sorri, Martti, Van de Heyning, Paul, Van Camp, Guy
Publicado 2008

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

por Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Publicado 2016

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data

por Bien, Stephanie A., Auer, Paul L., Harrison, Tabitha A., Qu, Conghui, Connolly, Charles M., Greenside, Peyton G., Chen, Sai, Berndt, Sonja I., Bézieau, Stéphane, Kang, Hyun M., Huyghe, Jeroen, Brenner, Hermann, Casey, Graham, Chan, Andrew T., Hopper, John L., Banbury, Barbara L., Chang-Claude, Jenny, Chanock, Stephen J., Haile, Robert W., Hoffmeister, Michael, Fuchsberger, Christian, Jenkins, Mark A., Leal, Suzanne M., Lemire, Mathieu, Newcomb, Polly A., Gallinger, Steven, Potter, John D., Schoen, Robert E., Slattery, Martha L., Smith, Joshua D., Le Marchand, Loic, White, Emily, Zanke, Brent W., Abeçasis, Goncalo R., Carlson, Christopher S., Peters, Ulrike, Nickerson, Deborah A., Kundaje, Anshul, Hsu, Li
Publicado 2017

Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

por Horikoshi, Momoko, Pasquali, Lorenzo, Wiltshire, Steven, Huyghe, Jeroen R., Mahajan, Anubha, Asimit, Jennifer L., Ferreira, Teresa, Locke, Adam E., Robertson, Neil R., Wang, Xu, Sim, Xueling, Fujita, Hayato, Hara, Kazuo, Young, Robin, Zhang, Weihua, Choi, Sungkyoung, Chen, Han, Kaur, Ismeet, Takeuchi, Fumihiko, Fontanillas, Pierre, Thuillier, Dorothée, Yengo, Loic, Below, Jennifer E., Tam, Claudia H.T., Wu, Ying, Abecasis, Gonçalo, Altshuler, David, Bell, Graeme I., Blangero, John, Burtt, Noél P., Duggirala, Ravindranath, Florez, Jose C., Hanis, Craig L., Seielstad, Mark, Atzmon, Gil, Chan, Juliana C.N., Ma, Ronald C.W., Froguel, Philippe, Wilson, James G., Bharadwaj, Dwaipayan, Dupuis, Josee, Meigs, James B., Cho, Yoon Shin, Park, Taesung, Kooner, Jaspal S., Chambers, John C., Saleheen, Danish, Kadowaki, Takashi, Tai, E. Shyong, Mohlke, Karen L., Cox, Nancy J., Ferrer, Jorge, Zeggini, Eleftheria, Kato, Norihiro, Teo, Yik Ying, Boehnke, Michael, McCarthy, Mark I., Morris, Andrew P.
Publicado 2016

Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals

por Chen, Hongjie, Majumdar, Arunabha, Wang, Lu, Kar, Siddhartha, Brown, Kevin M., Feng, Helian, Turman, Constance, Dennis, Joe, Easton, Douglas, Michailidou, Kyriaki, Simard, Jacques, Bishop, Timothy, Cheng, Iona C., Huyghe, Jeroen R., Schmit, Stephanie L., O’Mara, Tracy A., Spurdle, Amanda B., Gharahkhani, Puya, Schumacher, Johannes, Jankowski, Janusz, Gockel, Ines, Bondy, Melissa L., Houlston, Richard S., Jenkins, Robert B., Melin, Beatrice, Lesseur, Corina, Ness, Andy R., Diergaarde, Brenda, Olshan, Andrew F., Amos, Christopher I., Christiani, David C., Landi, Maria T., McKay, James D., Brossard, Myriam, Iles, Mark M., Law, Matthew H., MacGregor, Stuart, Beesley, Jonathan, Jones, Michelle R., Tyrer, Jonathan, Winham, Stacey J., Klein, Alison P., Petersen, Gloria, Li, Donghui, Wolpin, Brian M., Eeles, Rosalind A., Haiman, Christopher A., Kote-Jarai, Zsofia, Schumacher, Fredrick R., Brennan, Paul, Chanock, Stephen J., Gaborieau, Valerie, Purdue, Mark P., Pharoah, Paul, Hung, Rayjean J., Amundadottir, Laufey T., Kraft, Peter, Pasaniuc, Bogdan, Lindström, Sara
Publicado 2021

Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival

por Georgeson, Peter, Steinfelder, Robert S., Harrison, Tabitha A., Pope, Bernard J., Zaidi, Syed H., Qu, Conghui, Lin, Yi, Joo, Jihoon E., Mahmood, Khalid, Clendenning, Mark, Walker, Romy, Aglago, Elom K, Berndt, Sonja I., Brenner, Hermann, Campbell, Peter T., Cao, Yin, Chan, Andrew T., Chang-Claude, Jenny, Dimou, Niki, Doheny, Kimberly F., Drew, David A., Figueiredo, Jane C., French, Amy J., Gallinger, Steven, Giannakis, Marios, Giles, Graham G., Goode, Ellen L, Gruber, Stephen B, Gsur, Andrea, Gunter, Marc J., Harlid, Sophia, Hoffmeister, Michael, Hsu, Li, Huang, Wen-Yi, Huyghe, Jeroen R, Manson, JoAnn E., Moreno, Victor, Murphy, Neil, Nassir, Rami, Newton, Christina C., Nowak, Jonathan A., Obón-Santacana, Mireia, Ogino, Shuji, Pai, Rish K., Papadimitrou, Nikos, Potter, John D., Schoen, Robert E., Song, Mingyang, Sun, Wei, Toland, Amanda E., Trinh, Quang M., Tsilidis, Kostas, Ugai, Tomotaka, Um, Caroline Y, Macrae, Finlay A., Rosty, Christophe, Hudson, Thomas J., Winship, Ingrid M., Phipps, Amanda I., Jenkins, Mark A., Peters, Ulrike, Buchanan, Daniel D.
Publicado 2023