Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Autor van Rooij, Jeroen, Arp, Pascal, Broer, Linda, Verlouw, Joost, van Rooij, Frank, Kraaij, Robert, Uitterlinden, André, Verkerk, Annemieke J. M. H.
Vydáno v Genet Med (2020)

Vitamin D Binding Protein Genotype and Osteoporosis

Autor Fang, Yue, van Meurs, Joyce B. J., Arp, Pascal, van Leeuwen, Johannes P. T., Hofman, Albert, Pols, Huibert A. P., Uitterlinden, André G.
Vydáno 2009

Telomere Length and the Risk of Alzheimer’s Disease: The Rotterdam Study

Autor Fani, Lana, Hilal, Saima, Sedaghat, Sanaz, Broer, Linda, Licher, Silvan, Arp, Pascal P., van Meurs, Joyce B.J., Ikram, M. Kamran, Ikram, M. Arfan
Vydáno v J Alzheimers Dis (2020)

The interleukin-6 –174 G/C promoter polymorphism and arterial stiffness; the Rotterdam Study

Autor Sie, Mark PS, Mattace-Raso, Francesco US, Uitterlinden, André G, Arp, Pascal P, Hofman, Albert, Pols, Huibert AP, Hoeks, Arnold PG, Reneman, Robert S, Asmar, Roland, van Duijn, Cornelia M, Witteman, Jacqueline CM
Vydáno 2008

Population-specific genetic variation in large sequencing data sets: why more data is still better

Autor van Rooij, Jeroen G J, Jhamai, Mila, Arp, Pascal P, Nouwens, Stephan C A, Verkerk, Marijn, Hofman, Albert, Ikram, M Arfan, Verkerk, Annemieke J, van Meurs, Joyce B J, Rivadeneira, Fernando, Uitterlinden, André G, Kraaij, Robert
Vydáno v Eur J Hum Genet (2017)

Polymorphisms in the Sclerosteosis/van Buchem Disease Gene (SOST) Region Are Associated with Bone-Mineral Density in Elderly Whites

Autor Uitterlinden, Andre G., Arp, Pascal P., Paeper, Bryan W., Charmley, Patrick, Proll, Sean, Rivadeneira, Fernando, Fang, Yue, van Meurs, Joyce B. J., Britschgi, Theresa B., Latham, John A., Schatzman, Randall C., Pols, Huibert A. P., Brunkow, Mary E.
Vydáno 2004

Intestinal microbiome composition and its relation to joint pain and inflammation

Autor Boer, Cindy G., Radjabzadeh, Djawad, Medina-Gomez, Carolina, Garmaeva, Sanzhima, Schiphof, Dieuwke, Arp, Pascal, Koet, Thomas, Kurilshikov, Alexander, Fu, Jingyuan, Ikram, M. Arfan, Bierma-Zeinstra, Sita, Uitterlinden, André G., Kraaij, Robert, Zhernakova, Alexandra, van Meurs, Joyce B. J.
Vydáno v Nat Commun (2019)

Vitamin D Receptor Polymorphisms Are Associated with Reduced Esophageal Vitamin D Receptor Expression and Reduced Esophageal Adenocarcinoma Risk

Autor Janmaat, Vincent T, van de Winkel, Anouk, Peppelenbosch, Maikel P, Spaander, Manon C W, Uitterlinden, André G, Pourfarzad, Farzin, Tilanus, Hugo W, Rygiel, Agnieszka M, Moons, Leon M G, Arp, Pascal P, Krishnadath, Kausilia K, Kuipers, Ernst J, van der Laan, Luc J W
Vydáno v Mol Med (2015)

Somatic TARDBP variants as a cause of semantic dementia

Autor van Rooij, Jeroen, Mol, Merel O, Melhem, Shamiram, van der Wal, Pelle, Arp, Pascal, Paron, Francesca, Donker Kaat, Laura, Seelaar, Harro, Miedema, Suzanne S M, Oshima, Takuya, Eggen, Bart J L, Uitterlinden, André, van Meurs, Joyce, van Kesteren, Ronald E, Smit, August B, Buratti, Emanuele, van Swieten, John C
Vydáno v Brain (2020)

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study

Autor Reiling, Erwin, van Vliet-Ostaptchouk, Jana V, van 't Riet, Esther, van Haeften, Timon W, Arp, Pascal A, Hansen, Torben, Kremer, Dennis, Groenewoud, Marlous J, van Hove, Els C, Romijn, Johannes A, Smit, Jan W A, Nijpels, Giel, Heine, Robert J, Uitterlinden, André G, Pedersen, Oluf, Slagboom, P Eline, Maassen, Johannes A, Hofker, Marten H, 't Hart, Leen M, Dekker, Jacqueline M
Vydáno 2009

Exome Sequencing Analysis Identifies Rare Variants in ATM and RPL8 That Are Associated With Shorter Telomere Length

Autor van der Spek, Ashley, Warner, Sophie C., Broer, Linda, Nelson, Christopher P., Vojinovic, Dina, Ahmad, Shahzad, Arp, Pascal P., Brouwer, Rutger W. W., Denniff, Matthew, van den Hout, Mirjam C. G. N., van Rooij, Jeroen G. J., Kraaij, Robert, van IJcken, Wilfred F. J., Samani, Nilesh J., Ikram, M. Arfan, Uitterlinden, André G., Codd, Veryan, Amin, Najaf, van Duijn, Cornelia M.
Vydáno v Front Genet (2020)

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

Autor Kayser, Manfred, Liu, Fan, Janssens, A. Cecile J.W., Rivadeneira, Fernando, Lao, Oscar, van Duijn, Kate, Vermeulen, Mark, Arp, Pascal, Jhamai, Mila M., van IJcken, Wilfred F.J., den Dunnen, Johan T., Heath, Simon, Zelenika, Diana, Despriet, Dominiek D.G., Klaver, Caroline C.W., Vingerling, Johannes R., de Jong, Paulus T.V.M., Hofman, Albert, Aulchenko, Yurii S., Uitterlinden, Andre G., Oostra, Ben A., van Duijn, Cornelia M.
Vydáno 2008

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

Autor Kayser, Manfred, Liu, Fan, Janssens, A. Cecile J.W., Rivadeneira, Fernando, Lao, Oscar, van Duijn, Kate, Vermeulen, Mark, Arp, Pascal, Jhamai, Mila M., van IJcken, Wilfred F.J., den Dunnen, Johan T., Heath, Simon, Zelenika, Diana, Despriet, Dominiek D.G., Klaver, Caroline C.W., Vingerling, Johannes R., de Jong, Paulus T.V.M., Hofman, Albert, Aulchenko, Yurii S., Uitterlinden, Andre G., Oostra, Ben A., van Duijn, Cornelia M.
Vydáno 2008

Characteristics of de novo structural changes in the human genome

Autor Kloosterman, Wigard P., Francioli, Laurent C., Hormozdiari, Fereydoun, Marschall, Tobias, Hehir-Kwa, Jayne Y., Abdellaoui, Abdel, Lameijer, Eric-Wubbo, Moed, Matthijs H., Koval, Vyacheslav, Renkens, Ivo, van Roosmalen, Markus J., Arp, Pascal, Karssen, Lennart C., Coe, Bradley P., Handsaker, Robert E., Suchiman, Eka D., Cuppen, Edwin, Thung, Djie Tjwan, McVey, Mitch, Wendl, Michael C., Uitterlinden, André, van Duijn, Cornelia M., Swertz, Morris A., Wijmenga, Cisca, van Ommen, GertJan B., Slagboom, P. Eline, Boomsma, Dorret I., Schönhuth, Alexander, Eichler, Evan E., de Bakker, Paul I.W., Ye, Kai, Guryev, Victor
Vydáno v Genome Res (2015)

Meta-Analysis of Genome-Wide Scans for Human Adult Stature Identifies Novel Loci and Associations with Measures of Skeletal Frame Size

Autor Soranzo, Nicole, Rivadeneira, Fernando, Chinappen-Horsley, Usha, Malkina, Ida, Richards, J. Brent, Hammond, Naomi, Stolk, Lisette, Nica, Alexandra, Inouye, Michael, Hofman, Albert, Stephens, Jonathan, Wheeler, Eleanor, Arp, Pascal, Gwilliam, Rhian, Jhamai, P. Mila, Potter, Simon, Chaney, Amy, Ghori, Mohammed J. R., Ravindrarajah, Radhi, Ermakov, Sergey, Estrada, Karol, Pols, Huibert A. P., Williams, Frances M., McArdle, Wendy L., van Meurs, Joyce B., Loos, Ruth J. F., Dermitzakis, Emmanouil T., Ahmadi, Kourosh R., Hart, Deborah J., Ouwehand, Willem H., Wareham, Nicholas J., Barroso, Inês, Sandhu, Manjinder S., Strachan, David P., Livshits, Gregory, Spector, Timothy D., Uitterlinden, André G., Deloukas, Panos
Vydáno 2009

A Genome-Wide Association Study identifies a locus on chromosome 7q22 to influence susceptibility for osteoarthritis

Autor Kerkhof, Hanneke J.M., Lories, Rik J., Meulenbelt, Ingrid, Jonsdottir, Ingileif, Valdes, Ana M, Arp, Pascal, Ingvarsson, Thorvaldur, Jhamai, Mila, Jonsson, Helgi, Stolk, Lisette, Thorleifsson, Gudmar, Zhai, Guangju, Zhang, Feng, Zhu, Yanyan, van der Breggen, Ruud, Carr, Andrew, Doherty, Michael, Doherty, Sally, Felson, David T., Gonzalez, Antonio, Halldorsson, Bjarni V., Hart, Deborah J., Hauksson, Valdimar B., Hofman, Albert, Ioannidis, John P.A., Kloppenburg, Margreet, Lane, Nancy E., Loughlin, John, Luyten, Frank P., Nevitt, Michael C., Parimi, Neeta, Pols, Huibert A.P., van de Putte, Tom, Rivadeneira, Fernando, Slagboom, Eline P., Styrkársdóttir, Unnur, Tsezou, Aspasia, Zmuda, Joseph, Spector, Tim D., Stefansson, Kari, Uitterlinden, André G., van Meurs, Joyce B.J.
Vydáno 2010

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

Autor Li, Chen, Stoma, Svetlana, Lotta, Luca A., Warner, Sophie, Albrecht, Eva, Allione, Alessandra, Arp, Pascal P., Broer, Linda, Buxton, Jessica L., Da Silva Couto Alves, Alexessander, Deelen, Joris, Fedko, Iryna O., Gordon, Scott D., Jiang, Tao, Karlsson, Robert, Kerrison, Nicola, Loe, Taylor K., Mangino, Massimo, Milaneschi, Yuri, Miraglio, Benjamin, Pervjakova, Natalia, Russo, Alessia, Surakka, Ida, van der Spek, Ashley, Verhoeven, Josine E., Amin, Najaf, Beekman, Marian, Blakemore, Alexandra I., Canzian, Federico, Hamby, Stephen E., Hottenga, Jouke-Jan, Jones, Peter D., Jousilahti, Pekka, Mägi, Reedik, Medland, Sarah E., Montgomery, Grant W., Nyholt, Dale R., Perola, Markus, Pietiläinen, Kirsi H., Salomaa, Veikko, Sillanpää, Elina, Suchiman, H. Eka, van Heemst, Diana, Willemsen, Gonneke, Agudo, Antonio, Boeing, Heiner, Boomsma, Dorret I., Chirlaque, Maria-Dolores, Fagherazzi, Guy, Ferrari, Pietro, Franks, Paul, Gieger, Christian, Eriksson, Johan Gunnar, Gunter, Marc, Hägg, Sara, Hovatta, Iiris, Imaz, Liher, Kaprio, Jaakko, Kaaks, Rudolf, Key, Timothy, Krogh, Vittorio, Martin, Nicholas G., Melander, Olle, Metspalu, Andres, Moreno, Concha, Onland-Moret, N. Charlotte, Nilsson, Peter, Ong, Ken K., Overvad, Kim, Palli, Domenico, Panico, Salvatore, Pedersen, Nancy L., Penninx, Brenda W.J. H., Quirós, J. Ramón, Jarvelin, Marjo Riitta, Rodríguez-Barranco, Miguel, Scott, Robert A., Severi, Gianluca, Slagboom, P. Eline, Spector, Tim D., Tjonneland, Anne, Trichopoulou, Antonia, Tumino, Rosario, Uitterlinden, André G., van der Schouw, Yvonne T., van Duijn, Cornelia M., Weiderpass, Elisabete, Denchi, Eros Lazzerini, Matullo, Giuseppe, Butterworth, Adam S., Danesh, John, Samani, Nilesh J., Wareham, Nicholas J., Nelson, Christopher P., Langenberg, Claudia, Codd, Veryan
Vydáno v Am J Hum Genet (2020)

The transcriptional landscape of age in human peripheral blood

Autor Peters, Marjolein J., Joehanes, Roby, Pilling, Luke C., Schurmann, Claudia, Conneely, Karen N., Powell, Joseph, Reinmaa, Eva, Sutphin, George L., Zhernakova, Alexandra, Schramm, Katharina, Wilson, Yana A., Kobes, Sayuko, Tukiainen, Taru, Ramos, Yolande F., Göring, Harald H. H., Fornage, Myriam, Liu, Yongmei, Gharib, Sina A., Stranger, Barbara E., De Jager, Philip L., Aviv, Abraham, Levy, Daniel, Murabito, Joanne M., Munson, Peter J., Huan, Tianxiao, Hofman, Albert, Uitterlinden, André G., Rivadeneira, Fernando, van Rooij, Jeroen, Stolk, Lisette, Broer, Linda, Verbiest, Michael M. P. J., Jhamai, Mila, Arp, Pascal, Metspalu, Andres, Tserel, Liina, Milani, Lili, Samani, Nilesh J., Peterson, Pärt, Kasela, Silva, Codd, Veryan, Peters, Annette, Ward-Caviness, Cavin K., Herder, Christian, Waldenberger, Melanie, Roden, Michael, Singmann, Paula, Zeilinger, Sonja, Illig, Thomas, Homuth, Georg, Grabe, Hans-Jörgen, Völzke, Henry, Steil, Leif, Kocher, Thomas, Murray, Anna, Melzer, David, Yaghootkar, Hanieh, Bandinelli, Stefania, Moses, Eric K., Kent, Jack W., Curran, Joanne E., Johnson, Matthew P., Williams-Blangero, Sarah, Westra, Harm-Jan, McRae, Allan F., Smith, Jennifer A., Kardia, Sharon L. R., Hovatta, Iiris, Perola, Markus, Ripatti, Samuli, Salomaa, Veikko, Henders, Anjali K., Martin, Nicholas G., Smith, Alicia K., Mehta, Divya, Binder, Elisabeth B., Nylocks, K Maria, Kennedy, Elizabeth M., Klengel, Torsten, Ding, Jingzhong, Suchy-Dicey, Astrid M., Enquobahrie, Daniel A., Brody, Jennifer, Rotter, Jerome I., Chen, Yii-Der I., Houwing-Duistermaat, Jeanine, Kloppenburg, Margreet, Slagboom, P. Eline, Helmer, Quinta, den Hollander, Wouter, Bean, Shannon, Raj, Towfique, Bakhshi, Noman, Wang, Qiao Ping, Oyston, Lisa J., Psaty, Bruce M., Tracy, Russell P., Montgomery, Grant W., Turner, Stephen T., Blangero, John, Meulenbelt, Ingrid, Ressler, Kerry J., Yang, Jian, Franke, Lude, Kettunen, Johannes, Visscher, Peter M., Neely, G. Gregory, Korstanje, Ron, Hanson, Robert L., Prokisch, Holger, Ferrucci, Luigi, Esko, Tonu, Teumer, Alexander, van Meurs, Joyce B. J., Johnson, Andrew D.
Vydáno v Nat Commun (2015)

Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture

Autor Zheng, Hou-Feng, Forgetta, Vincenzo, Hsu, Yi-Hsiang, Estrada, Karol, Rosello-Diez, Alberto, Leo, Paul J, Dahia, Chitra L, Park-Min, Kyung Hyun, Tobias, Jonathan H, Kooperberg, Charles, Kleinman, Aaron, Styrkarsdottir, Unnur, Liu, Ching-Ti, Uggla, Charlotta, Evans, Daniel S, Nielson, Carrie M, Walter, Klaudia, Pettersson-Kymmer, Ulrika, McCarthy, Shane, Eriksson, Joel, Kwan, Tony, Jhamai, Mila, Trajanoska, Katerina, Memari, Yasin, Min, Josine, Huang, Jie, Danecek, Petr, Wilmot, Beth, Li, Rui, Chou, Wen-Chi, Mokry, Lauren E, Moayyeri, Alireza, Claussnitzer, Melina, Cheng, Chia-Ho, Cheung, Warren, Medina-Gómez, Carolina, Ge, Bing, Chen, Shu-Huang, Choi, Kwangbom, Oei, Ling, Fraser, James, Kraaij, Robert, Hibbs, Matthew A, Gregson, Celia L, Paquette, Denis, Hofman, Albert, Wibom, Carl, Tranah, Gregory J, Marshall, Mhairi, Gardiner, Brooke B, Cremin, Katie, Auer, Paul, Hsu, Li, Ring, Sue, Tung, Joyce Y, Thorleifsson, Gudmar, Enneman, Anke W, van Schoor, Natasja M, de Groot, Lisette C.P.G.M., van der Velde, Nathalie, Melin, Beatrice, Kemp, John P, Christiansen, Claus, Sayers, Adrian, Zhou, Yanhua, Calderari, Sophie, van Rooij, Jeroen, Carlson, Chris, Peters, Ulrike, Berlivet, Soizik, Dostie, Josée, Uitterlinden, Andre G, Williams, Stephen R., Farber, Charles, Grinberg, Daniel, LaCroix, Andrea Z, Haessler, Jeff, Chasman, Daniel I, Giulianini, Franco, Rose, Lynda M, Ridker, Paul M, Eisman, John A, Nguyen, Tuan V, Center, Jacqueline R, Nogues, Xavier, Garcia-Giralt, Natalia, Launer, Lenore L, Gudnason, Vilmunder, Mellström, Dan, Vandenput, Liesbeth, Karlsson, Magnus K, Ljunggren, Östen, Svensson, Olle, Hallmans, Göran, Rousseau, François, Giroux, Sylvie, Bussière, Johanne, Arp, Pascal P, Koromani, Fjorda, Prince, Richard L, Lewis, Joshua R, Langdahl, Bente L, Hermann, A Pernille, Jensen, Jens-Erik B, Kaptoge, Stephen, Khaw, Kay-Tee, Reeve, Jonathan, Formosa, Melissa M, Xuereb-Anastasi, Angela, Åkesson, Kristina, McGuigan, Fiona E, Garg, Gaurav, Olmos, Jose M, Zarrabeitia, Maria T, Riancho, Jose A, Ralston, Stuart H, Alonso, Nerea, Jiang, Xi, Goltzman, David, Pastinen, Tomi, Grundberg, Elin, Gauguier, Dominique, Orwoll, Eric S, Karasik, David, Davey-Smith, George, Smith, Albert V, Siggeirsdottir, Kristin, Harris, Tamara B, Zillikens, M Carola, van Meurs, Joyce BJ, Thorsteinsdottir, Unnur, Maurano, Matthew T, Timpson, Nicholas J, Soranzo, Nicole, Durbin, Richard, Wilson, Scott G, Ntzani, Evangelia E, Brown, Matthew A, Stefansson, Kari, Hinds, David A, Spector, Tim, Cupples, L Adrienne, Ohlsson, Claes, Greenwood, Celia MT, Jackson, Rebecca D, Rowe, David W, Loomis, Cynthia A, Evans, David M, Ackert-Bicknell, Cheryl L, Joyner, Alexandra L, Duncan, Emma L, Kiel, Douglas P, Rivadeneira, Fernando, Richards, J Brent
Vydáno v Nature (2015)