Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects

por Kim, Sehyun, Stockwell, Amy, Qin, Han, Gao, Simon S., Sagolla, Meredith, Stoilov, Ivaylo, Wuster, Arthur, Lai, Phillip, Yaspan, Brian L., Jeanne, Marion
Publicado 2023

A major zebrafish polymorphism resource for genetic mapping

por Bradley, Kevin M, Elmore, J Bradford, Breyer, Joan P, Yaspan, Brian L, Jessen, Jason R, Knapik, Ela W, Smith, Jeffrey R
Publicado 2007

Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

por Campbell, Nicholas G, Zhu, Chong-Bin, Lindler, Kathryn M, Yaspan, Brian L, Kistner-Griffin, Emily, Hewlett, William A, Tate, Christopher G, Blakely, Randy D, Sutcliffe, James S
Publicado 2013

Identification of a Genetic Susceptibility Locus for Idiopathic Pulmonary Fibrosis in the 16p Subtelomere Using Whole-Genome Sequencing

por Donoghue, Lauren J., Stockwell, Amy D., Neighbors, Margaret, Sheng, Rebecca X., Prabhakaran, Ramanandan, Wolters, Paul J., Lancaster, Lisa H., Kropski, Jonathan A., Blackwell, Timothy S., McCarthy, Mark I., Yaspan, Brian L.
Publicado 2023

Previously reported placebo-response-associated variants do not predict patient outcomes in inflammatory disease Phase III trial placebo arms

por Haug-Baltzell, Asher, Bhangale, Tushar R., Chang, Diana, Dressen, Amy, Yaspan, Brian L., Ortmann, Ward, Brauer, Matthew J., Hunkapiller, Julie, Reeder, Jens, Mukhyala, Kiran, Cuenco, Karen T., Tom, Jennifer A., Cowgill, Amy, Vogel, Jan, Forrest, William F., Behrens, Timothy W., Graham, Robert R., Wuster, Arthur
Publicado 2018

Multi-ancestry GWAS analysis identifies two novel loci associated with diabetic eye disease and highlights APOL1 as a high risk locus in patients with diabetic macular edema

por Stockwell, Amy D., Chang, Michael C., Mahajan, Anubha, Forrest, William, Anegondi, Neha, Pendergrass, Rion K., Selvaraj, Suresh, Reeder, Jens, Wei, Eric, Iglesias, Victor A., Creps, Natalie M., Macri, Laura, Neeranjan, Andrea N., van der Brug, Marcel P., Scales, Suzie J., McCarthy, Mark I., Yaspan, Brian L.
Publicado 2023

A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk

por Chang, Diana, Hunkapiller, Julie, Bhangale, Tushar, Reeder, Jens, Mukhyala, Kiran, Tom, Jennifer, Cowgill, Amy, Vogel, Jan, Forrest, William F., Khan, Zia, Stockwell, Amy, McCarthy, Mark I., Staton, Tracy L., Olsson, Julie, Holweg, Cecile T. J., Cheung, Dorothy S., Chen, Hubert, Brauer, Matthew J., Graham, Robert R., Behrens, Timothy, Wilson, Mark S., Arron, Joseph R., Choy, David F., Yaspan, Brian L.
Publicado 2022

Leveraging global multi-ancestry meta-analysis in the study of idiopathic pulmonary fibrosis genetics

por Partanen, Juulia J., Häppölä, Paavo, Zhou, Wei, Lehisto, Arto A., Ainola, Mari, Sutinen, Eva, Allen, Richard J., Stockwell, Amy D., Leavy, Olivia C., Oldham, Justin M., Guillen-Guio, Beatriz, Cox, Nancy J., Hirbo, Jibril B., Schwartz, David A., Fingerlin, Tasha E., Flores, Carlos, Noth, Imre, Yaspan, Brian L., Jenkins, R. Gisli, Wain, Louise V., Ripatti, Samuli, Pirinen, Matti, Laitinen, Tarja, Kaarteenaho, Riitta, Myllärniemi, Marjukka, Daly, Mark J., Koskela, Jukka T.
Publicado 2022

A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration

por Orozco, Luz D., Owen, Leah A., Hofmann, Jeffrey, Stockwell, Amy D., Tao, Jianhua, Haller, Susan, Mukundan, Vineeth T., Clarke, Christine, Lund, Jessica, Sridhar, Akshayalakshmi, Mayba, Oleg, Barr, Julie L., Zavala, Rylee A., Graves, Elijah C., Zhang, Charles, Husami, Nadine, Finley, Robert, Au, Elizabeth, Lillvis, John H., Farkas, Michael H., Shakoor, Akbar, Sherva, Richard, Kim, Ivana K., Kaminker, Joshua S., Townsend, Michael J., Farrer, Lindsay A., Yaspan, Brian L., Chen, Hsu-Hsin, DeAngelis, Margaret M.
Publicado 2023

Estrogen pathway polymorphisms in relation to primary open angle glaucoma: An analysis accounting for gender from the United States

por Pasquale, Louis R., Loomis, Stephanie J., Weinreb, Robert N., Kang, Jae H., Yaspan, Brian L., Bailey, Jessica Cooke, Gaasterland, Douglas, Gaasterland, Terry, Lee, Richard K., Scott, William K., Lichter, Paul R., Budenz, Donald L., Liu, Yutao, Realini, Tony, Friedman, David S., McCarty, Catherine A., Moroi, Sayoko E., Olson, Lana, Schuman, Joel S., Singh, Kuldev, Vollrath, Douglas, Wollstein, Gadi, Zack, Donald J., Brilliant, Murray, Sit, Arthur J., Christen, William G., Fingert, John, Kraft, Peter, Zhang, Kang, Allingham, R. Rand, Pericak-Vance, Margaret A., Richards, Julia E., Hauser, Michael A., Haines, Jonathan L., Wiggs, Janey L.
Publicado 2013

PCSK6 and Survival in Idiopathic Pulmonary Fibrosis

por Oldham, Justin M., Allen, Richard J., Lorenzo-Salazar, Jose M., Molyneaux, Philip L., Ma, Shwu-Fan, Joseph, Chitra, Kim, John S., Guillen-Guio, Beatriz, Hernández-Beeftink, Tamara, Kropski, Jonathan A., Huang, Yong, Lee, Cathryn T., Adegunsoye, Ayodeji, Pugashetti, Janelle Vu, Linderholm, Angela L., Vo, Vivian, Strek, Mary E., Jou, Jonathan, Muñoz-Barrera, Adrian, Rubio-Rodriguez, Luis A., Hubbard, Richard, Hirani, Nik, Whyte, Moira K. B., Hart, Simon, Nicholson, Andrew G., Lancaster, Lisa, Parfrey, Helen, Rassl, Doris, Wallace, William, Valenzi, Eleanor, Zhang, Yingze, Mychaleckyj, Josyf, Stockwell, Amy, Kaminski, Naftali, Wolters, Paul J., Molina-Molina, Maria, Banovich, Nicholas E., Fahy, William A., Martinez, Fernando J., Hall, Ian P., Tobin, Martin D., Maher, Toby M., Blackwell, Timothy S., Yaspan, Brian L., Jenkins, R. Gisli, Flores, Carlos, Wain, Louise V., Noth, Imre
Publicado 2023

Association study of human leukocyte antigen (HLA) variants and idiopathic pulmonary fibrosis

por Guillen-Guio, Beatriz, Paynton, Megan L., Allen, Richard J., Chin, Daniel P.W., Donoghue, Lauren J., Stockwell, Amy, Leavy, Olivia C., Hernandez-Beeftink, Tamara, Reynolds, Carl, Cullinan, Paul, Martinez, Fernando, Booth, Helen L., Fahy, William A., Hall, Ian P., Hart, Simon P., Hill, Mike R., Hirani, Nik, Hubbard, Richard B., McAnulty, Robin J., Millar, Ann B., Navaratnam, Vidya, Oballa, Eunice, Parfrey, Helen, Saini, Gauri, Sayers, Ian, Tobin, Martin D., Whyte, Moira K. B., Adegunsoye, Ayodeji, Kaminski, Naftali, Shwu-Fan, Ma, Strek, Mary E., Zhang, Yingze, Fingerlin, Tasha E., Molina-Molina, Maria, Neighbors, Margaret, Sheng, X. Rebecca, Oldham, Justin M., Maher, Toby M., Molyneaux, Philip L., Flores, Carlos, Noth, Imre, Schwartz, David A., Yaspan, Brian L., Jenkins, R. Gisli, Wain, Louise V., Hollox, Edward J.
Publicado 2023

Common Variants at 9p21 and 8q22 Are Associated with Increased Susceptibility to Optic Nerve Degeneration in Glaucoma

por Wiggs, Janey L., Yaspan, Brian L., Hauser, Michael A., Kang, Jae H., Allingham, R. Rand, Olson, Lana M., Abdrabou, Wael, Fan, Bao J., Wang, Dan Y., Brodeur, Wendy, Budenz, Donald L., Caprioli, Joseph, Crenshaw, Andrew, Crooks, Kristy, DelBono, Elizabeth, Doheny, Kimberly F., Friedman, David S., Gaasterland, Douglas, Gaasterland, Terry, Laurie, Cathy, Lee, Richard K., Lichter, Paul R., Loomis, Stephanie, Liu, Yutao, Medeiros, Felipe A., McCarty, Cathy, Mirel, Daniel, Moroi, Sayoko E., Musch, David C., Realini, Anthony, Rozsa, Frank W., Schuman, Joel S., Scott, Kathleen, Singh, Kuldev, Stein, Joshua D., Trager, Edward H., VanVeldhuisen, Paul, Vollrath, Douglas, Wollstein, Gadi, Yoneyama, Sachiko, Zhang, Kang, Weinreb, Robert N., Ernst, Jason, Kellis, Manolis, Masuda, Tomohiro, Zack, Don, Richards, Julia E., Pericak-Vance, Margaret, Pasquale, Louis R., Haines, Jonathan L.
Publicado 2012

Genome-Wide Association Study of Susceptibility to Idiopathic Pulmonary Fibrosis

por Allen, Richard J., Guillen-Guio, Beatriz, Oldham, Justin M., Ma, Shwu-Fan, Dressen, Amy, Paynton, Megan L., Kraven, Luke M., Obeidat, Ma'en, Li, Xuan, Ng, Michael, Braybrooke, Rebecca, Molina-Molina, Maria, Hobbs, Brian D., Putman, Rachel K., Sakornsakolpat, Phuwanat, Booth, Helen L., Fahy, William A., Hart, Simon P., Hill, Mike R., Hirani, Nik, Hubbard, Richard B., McAnulty, Robin J., Millar, Ann B., Navaratnam, Vidyia, Oballa, Eunice, Parfrey, Helen, Saini, Gauri, Whyte, Moira K. B., Zhang, Yingze, Kaminski, Naftali, Adegunsoye, Ayodeji, Strek, Mary E., Neighbors, Margaret, Sheng, Xuting R., Gudmundsson, Gunnar, Gudnason, Vilmundur, Hatabu, Hiroto, Lederer, David J., Manichaikul, Ani, Newell, John D., O’Connor, George T., Ortega, Victor E., Xu, Hanfei, Fingerlin, Tasha E., Bossé, Yohan, Hao, Ke, Joubert, Philippe, Nickle, David C., Sin, Don D., Timens, Wim, Furniss, Dominic, Morris, Andrew P., Zondervan, Krina T., Hall, Ian P., Sayers, Ian, Tobin, Martin D., Maher, Toby M., Cho, Michael H., Hunninghake, Gary M., Schwartz, David A., Yaspan, Brian L., Molyneaux, Philip L., Flores, Carlos, Noth, Imre, Jenkins, R. Gisli, Wain, Louise V.
Publicado 2020

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open angle glaucoma

por Cooke Bailey, Jessica N., Loomis, Stephanie J., Kang, Jae H., Allingham, R. Rand, Gharahkhani, Puya, Khor, Chiea Chuen, Burdon, Kathryn P., Aschard, Hugues, Chasman, Daniel I., Igo, Robert P., Hysi, Pirro G., Glastonbury, Craig A., Ashley-Koch, Allison, Brilliant, Murray, Brown, Andrew A., Budenz, Donald L., Buil, Alfonso, Cheng, Ching-Yu, Choi, Hyon, Christen, William G., Curhan, Gary, De Vivo, Immaculata, Fingert, John H., Foster, Paul J., Fuchs, Charles, Gaasterland, Douglas, Gaasterland, Terry, Hewitt, Alex W., Hu, Frank, Hunter, David J., Khawaja, Anthony P., Lee, Richard K., Li, Zheng, Lichter, Paul R., Mackey, David A., McGuffin, Peter, Mitchell, Paul, Moroi, Sayoko E., Perera, Shamira A., Pepper, Keating W., Qi, Qibin, Realini, Tony, Richards, Julia E., Ridker, Paul M, Rimm, Eric, Ritch, Robert, Ritchie, Marylyn, Schuman, Joel S., Scott, William K., Singh, Kuldev, Sit, Arthur J., Song, Yeunjoo E., Tamimi, Rulla M., Topouzis, Fotis, Viswanathan, Ananth C., Verma, Shefali Setia, Vollrath, Douglas, Wang, Jie Jin, Weisschuh, Nicole, Wissinger, Bernd, Wollstein, Gadi, Wong, Tien Y., Yaspan, Brian L., Zack, Donald J., Zhang, Kang, Weinreb, Robert N., Pericak-Vance, Margaret A., Small, Kerrin, Hammond, Christopher J., Aung, Tin, Liu, Yutao, Vithana, Eranga N., MacGregor, Stuart, Craig, Jamie E., Kraft, Peter, Howell, Gareth, Hauser, Michael A., Pasquale, Louis R., Haines, Jonathan L., Wiggs, Janey L.
Publicado 2016

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441—456...

por Pollack, Samuela, Igo, Robert P., Jensen, Richard A., Christiansen, Mark, Li, Xiaohui, Cheng, Ching-Yu, Ng, Maggie C.Y., Smith, Albert V., Rossin, Elizabeth J., Segrè, Ayellet V., Davoudi, Samaneh, Tan, Gavin S., Ida Chen, Yii-Der, Kuo, Jane Z., Dimitrov, Latchezar M., Stanwyck, Lynn K., Meng, Weihua, Hosseini, S. Mohsen, Imamura, Minako, Nousome, Darryl, Kim, Jihye, Hai, Yang, Jia, Yucheng, Ahn, Jeeyun, Leong, Aaron, Shah, Kaanan, Park, Kyu Hyung, Guo, Xiuqing, Ipp, Eli, Taylor, Kent D., Adler, Sharon G., Sedor, John R., Freedman, Barry I., Lee, I-Te, Sheu, Wayne H.-H., Kubo, Michiaki, Takahashi, Atsushi, Hadjadj, Samy, Marre, Michel, Tregouet, David-Alexandre, Mckean-Cowdin, Roberta, Varma, Rohit, McCarthy, Mark I., Groop, Leif, Ahlqvist, Emma, Lyssenko, Valeriya, Agardh, Elisabet, Morris, Andrew, Doney, Alex S.F., Colhoun, Helen M., Toppila, Iiro, Sandholm, Niina, Groop, Per-Henrik, Maeda, Shiro, Hanis, Craig L., Penman, Alan, Chen, Ching J., Hancock, Heather, Mitchell, Paul, Craig, Jamie E., Chew, Emily Y., Paterson, Andrew D., Grassi, Michael A., Palmer, Colin, Bowden, Donald W., Yaspan, Brian L., Siscovick, David, Cotch, Mary Frances, Wang, Jie Jin, Burdon, Kathryn P., Wong, Tien Y., Klein, Barbara E.K., Klein, Ronald, Rotter, Jerome I., Iyengar, Sudha K., Price, Alkes L., Sobrin, Lucia
Publicado 2020

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

por Casey, Jillian P., Magalhaes, Tiago, Conroy, Judith M., Regan, Regina, Shah, Naisha, Anney, Richard, Shields, Denis C., Abrahams, Brett S., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Cali, Phil, Correia, Catarina, Corsello, Christina, Coutanche, Marc, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Foley, Suzanne, Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Holt, Richard, Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Lamb, Janine A., Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lord, Catherine, Lund, Sabata C., Maestrini, Elena, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Merikangas, Alison, Miller, Judith, Minopoli, Fiorella, Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Nygren, Gudrun, Oliveira, Guiomar, Pagnamenta, Alistair T., Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Pickles, Andrew, Pinto, Dalila, Piven, Joseph, Posey, David J., Poustka, Annemarie, Poustka, Fritz, Ragoussis, Jiannis, Roge, Bernadette, Rutter, Michael L., Sequeira, Ana F., Soorya, Latha, Sousa, Inês, Sykes, Nuala, Stoppioni, Vera, Tancredi, Raffaella, Tauber, Maïté, Thompson, Ann P., Thomson, Susanne, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Vorstman, Jacob A. S., Wallace, Simon, Wang, Kai, Wassink, Thomas H., White, Kathy, Wing, Kirsty, Wittemeyer, Kerstin, Yaspan, Brian L., Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Geschwind, Daniel H., Haines, Jonathan L., Hallmayer, Joachim, Monaco, Anthony P., Nurnberger, John I., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vieland, Veronica J., Wijsman, Ellen M., Green, Andrew, Gill, Michael, Gallagher, Louise, Vicente, Astrid, Ennis, Sean
Publicado 2011

A genome-wide scan for common alleles affecting risk for autism

por Anney, Richard, Klei, Lambertus, Pinto, Dalila, Regan, Regina, Conroy, Judith, Magalhaes, Tiago R., Correia, Catarina, Abrahams, Brett S., Sykes, Nuala, Pagnamenta, Alistair T., Almeida, Joana, Bacchelli, Elena, Bailey, Anthony J., Baird, Gillian, Battaglia, Agatino, Berney, Tom, Bolshakova, Nadia, Bölte, Sven, Bolton, Patrick F., Bourgeron, Thomas, Brennan, Sean, Brian, Jessica, Carson, Andrew R., Casallo, Guillermo, Casey, Jillian, Chu, Su H., Cochrane, Lynne, Corsello, Christina, Crawford, Emily L., Crossett, Andrew, Dawson, Geraldine, de Jonge, Maretha, Delorme, Richard, Drmic, Irene, Duketis, Eftichia, Duque, Frederico, Estes, Annette, Farrar, Penny, Fernandez, Bridget A., Folstein, Susan E., Fombonne, Eric, Freitag, Christine M., Gilbert, John, Gillberg, Christopher, Glessner, Joseph T., Goldberg, Jeremy, Green, Jonathan, Guter, Stephen J., Hakonarson, Hakon, Heron, Elizabeth A., Hill, Matthew, Holt, Richard, Howe, Jennifer L., Hughes, Gillian, Hus, Vanessa, Igliozzi, Roberta, Kim, Cecilia, Klauck, Sabine M., Kolevzon, Alexander, Korvatska, Olena, Kustanovich, Vlad, Lajonchere, Clara M., Lamb, Janine A., Laskawiec, Magdalena, Leboyer, Marion, Le Couteur, Ann, Leventhal, Bennett L., Lionel, Anath C., Liu, Xiao-Qing, Lord, Catherine, Lotspeich, Linda, Lund, Sabata C., Maestrini, Elena, Mahoney, William, Mantoulan, Carine, Marshall, Christian R., McConachie, Helen, McDougle, Christopher J., McGrath, Jane, McMahon, William M., Melhem, Nadine M., Merikangas, Alison, Migita, Ohsuke, Minshew, Nancy J., Mirza, Ghazala K., Munson, Jeff, Nelson, Stanley F., Noakes, Carolyn, Noor, Abdul, Nygren, Gudrun, Oliveira, Guiomar, Papanikolaou, Katerina, Parr, Jeremy R., Parrini, Barbara, Paton, Tara, Pickles, Andrew, Piven, Joseph, Posey, David J, Poustka, Annemarie, Poustka, Fritz, Prasad, Aparna, Ragoussis, Jiannis, Renshaw, Katy, Rickaby, Jessica, Roberts, Wendy, Roeder, Kathryn, Roge, Bernadette, Rutter, Michael L., Bierut, Laura J., Rice, John P., Salt, Jeff, Sansom, Katherine, Sato, Daisuke, Segurado, Ricardo, Senman, Lili, Shah, Naisha, Sheffield, Val C., Soorya, Latha, Sousa, Inês, Stoppioni, Vera, Strawbridge, Christina, Tancredi, Raffaella, Tansey, Katherine, Thiruvahindrapduram, Bhooma, Thompson, Ann P., Thomson, Susanne, Tryfon, Ana, Tsiantis, John, Van Engeland, Herman, Vincent, John B., Volkmar, Fred, Wallace, Simon, Wang, Kai, Wang, Zhouzhi, Wassink, Thomas H., Wing, Kirsty, Wittemeyer, Kerstin, Wood, Shawn, Yaspan, Brian L., Zurawiecki, Danielle, Zwaigenbaum, Lonnie, Betancur, Catalina, Buxbaum, Joseph D., Cantor, Rita M., Cook, Edwin H., Coon, Hilary, Cuccaro, Michael L., Gallagher, Louise, Geschwind, Daniel H., Gill, Michael, Haines, Jonathan L., Miller, Judith, Monaco, Anthony P., Nurnberger, John I., Paterson, Andrew D., Pericak-Vance, Margaret A., Schellenberg, Gerard D., Scherer, Stephen W., Sutcliffe, James S., Szatmari, Peter, Vicente, Astrid M., Vieland, Veronica J., Wijsman, Ellen M., Devlin, Bernie, Ennis, Sean, Hallmayer, Joachim
Publicado 2010