Correlation of age of onset and clinical severity in Niemann–Pick disease type C1 with lysosomal abnormalities and gene expression

por Baxter, Laura L., Watkins-Chow, Dawn E., Johnson, Nicholas L., Farhat, Nicole Y., Platt, Frances M., Dale, Ryan K., Porter, Forbes D., Pavan, William J., Rodriguez-Gil, Jorge L.
Publicado 2022

NPC1 Deficiency in Mice is Associated with Fetal Growth Restriction, Neonatal Lethality and Abnormal Lung Pathology

por Rodriguez-Gil, Jorge L., Watkins-Chow, Dawn E., Baxter, Laura L., Yokoyama, Tadafumi, Zerfas, Patricia M., Starost, Matthew F., Gahl, William A., Malicdan, May Christine V., Porter, Forbes D., Platt, Frances M., Pavan, William J.
Publicado 2019

Improved systemic AAV gene therapy with a neurotrophic capsid in Niemann–Pick disease type C1 mice

por Davidson, Cristin D, Gibson, Alana L, Gu, Tansy, Baxter, Laura L, Deverman, Benjamin E, Beadle, Keith, Incao, Arturo A, Rodriguez-Gil, Jorge L, Fujiwara, Hideji, Jiang, Xuntian, Chandler, Randy J, Ory, Daniel S, Gradinaru, Viviana, Venditti, Charles P, Pavan, William J
Publicado 2021

Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1

por Rodriguez-Gil, Jorge L., Watkins-Chow, Dawn E., Baxter, Laura L., Elliot, Gene, Harper, Ursula L., Wincovitch, Stephen M., Wedel, Julia C., Incao, Arturo A., Huebecker, Mylene, Boehm, Frederick J., Garver, William S., Porter, Forbes D., Broman, Karl W., Platt, Frances M., Pavan, William J.
Publicado 2020

A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease

por Westbroek, Wendy, Nguyen, Matthew, Siebert, Marina, Lindstrom, Taylor, Burnett, Robert A., Aflaki, Elma, Jung, Olive, Tamargo, Rafael, Rodriguez-Gil, Jorge L., Acosta, Walter, Hendrix, An, Behre, Bahafta, Tayebi, Nahid, Fujiwara, Hideji, Sidhu, Rohini, Renvoise, Benoit, Ginns, Edward I., Dutra, Amalia, Pak, Evgenia, Cramer, Carole, Ory, Daniel S., Pavan, William J., Sidransky, Ellen
Publicado 2016

A Genome-Wide Scan for Breast Cancer Risk Haplotypes among African American Women

por Song, Chi, Chen, Gary K., Millikan, Robert C., Ambrosone, Christine B., John, Esther M., Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J., Ziegler, Regina G., Nyante, Sarah, Bandera, Elisa V., Ingles, Sue A., Press, Michael F., Deming, Sandra L., Rodriguez-Gil, Jorge L., Chanock, Stephen J., Wan, Peggy, Sheng, Xin, Pooler, Loreall C., Van Den Berg, David J., Le Marchand, Loic, Kolonel, Laurence N., Henderson, Brian E., Haiman, Chris A., Stram, Daniel O.
Publicado 2013

A functionally significant SNP in TP53 and breast cancer risk in African-American women

por Murphy, Maureen E., Liu, Song, Yao, Song, Huo, Dezheng, Liu, Qin, Dolfi, Sonia C., Hirshfield, Kim M., Hong, Chi-Chen, Hu, Qiang, Olshan, Andrew F., Ogundiran, Temidayo O., Adebamowo, Clement, Domchek, Susan M., Nathanson, Katherine L., Nemesure, Barbara, Ambs, Stefan, Blot, William J., Feng, Ye, John, Esther M., Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J., Ziegler, Regina G., Nyante, Sarah, Ingles, Sue A., Press, Michael F., Deming, Sandra L., Rodriguez-Gil, Jorge L., Haiman, Christopher A., Olopade, Olufunmilayo I., Lunetta, Kathryn L., Palmer, Julie R., Ambrosone, Christine B.
Publicado 2017

Enhanced Statistical Tests for GWAS in Admixed Populations: Assessment using African Americans from CARe and a Breast Cancer Consortium

por Pasaniuc, Bogdan, Zaitlen, Noah, Lettre, Guillaume, Chen, Gary K., Tandon, Arti, Kao, W. H. Linda, Ruczinski, Ingo, Fornage, Myriam, Siscovick, David S., Zhu, Xiaofeng, Larkin, Emma, Lange, Leslie A., Cupples, L. Adrienne, Yang, Qiong, Akylbekova, Ermeg L., Musani, Solomon K., Divers, Jasmin, Mychaleckyj, Joe, Li, Mingyao, Papanicolaou, George J., Millikan, Robert C., Ambrosone, Christine B., John, Esther M., Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J., Ziegler, Regina G., Nyante, Sarah J., Bandera, Elisa V., Ingles, Sue A., Press, Michael F., Chanock, Stephen J., Deming, Sandra L., Rodriguez-Gil, Jorge L., Palmer, Cameron D., Buxbaum, Sarah, Ekunwe, Lynette, Hirschhorn, Joel N., Henderson, Brian E., Myers, Simon, Haiman, Christopher A., Reich, David, Patterson, Nick, Wilson, James G., Price, Alkes L.
Publicado 2011

Methodological Considerations in Estimation of Phenotype Heritability Using Genome-Wide SNP Data, Illustrated by an Analysis of the Heritability of Height in a Large Sample of Afri...

por Chen, Fang, He, Jing, Zhang, Jianqi, Chen, Gary K., Thomas, Venetta, Ambrosone, Christine B., Bandera, Elisa V., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Cai, Qiuyin, Carpten, John, Casey, Graham, Chanock, Stephen J., Cheng, Iona, Chu, Lisa, Deming, Sandra L., Driver, W. Ryan, Goodman, Phyllis, Hayes, Richard B., Hennis, Anselm J. M., Hsing, Ann W., Hu, Jennifer J., Ingles, Sue A., John, Esther M., Kittles, Rick A., Kolb, Suzanne, Leske, M. Cristina, Millikan, Robert C., Monroe, Kristine R., Murphy, Adam, Nemesure, Barbara, Neslund-Dudas, Christine, Nyante, Sarah, Ostrander, Elaine A, Press, Michael F., Rodriguez-Gil, Jorge L., Rybicki, Ben A., Schumacher, Fredrick, Stanford, Janet L., Signorello, Lisa B., Strom, Sara S., Stevens, Victoria, Van Den Berg, David, Wang, Zhaoming, Witte, John S., Wu, Suh-Yuh, Yamamura, Yuko, Zheng, Wei, Ziegler, Regina G., Stram, Alexander H., Kolonel, Laurence N., Marchand, Loïc Le, Henderson, Brian E., Haiman, Christopher A., Stram, Daniel O.
Publicado 2015

Cross-ancestry GWAS meta-analysis identifies six breast cancer loci in African and European ancestry women

por Adedokun, Babatunde, Du, Zhaohui, Gao, Guimin, Ahearn, Thomas U., Lunetta, Kathryn L., Zirpoli, Gary, Figueroa, Jonine, John, Esther M., Bernstein, Leslie, Zheng, Wei, Hu, Jennifer J., Ziegler, Regina G., Nyante, Sarah, Bandera, Elisa V., Ingles, Sue A., Press, Michael F., Deming-Halverson, Sandra L., Rodriguez-Gil, Jorge L., Yao, Song, Ogundiran, Temidayo O., Ojengbede, Oladosu, Blot, William, Troester, Melissa A., Nathanson, Katherine L., Hennis, Anselm, Nemesure, Barbara, Ambs, Stefan, Fiorica, Peter N., Sucheston-Campbell, Lara E., Bensen, Jeannette T., Kushi, Lawrence H., Torres-Mejia, Gabriela, Hu, Donglei, Fejerman, Laura, Bolla, Manjeet K., Dennis, Joe, Dunning, Alison M., Easton, Douglas F., Michailidou, Kyriaki, Pharoah, Paul D. P., Wang, Qin, Sandler, Dale P., Taylor, Jack A., O’Brien, Katie M., Kitahara, Cari M., Falusi, Adeyinka G., Babalola, Chinedum, Yarney, Joel, Awuah, Baffour, Addai-Wiafe, Beatrice, Chanock, Stephen J., Olshan, Andrew F., Ambrosone, Christine B., Conti, David V., Ziv, Elad, Olopade, Olufunmilayo I., Garcia-Closas, Montserrat, Palmer, Julie R., Haiman, Christopher A., Huo, Dezheng
Publicado 2021

The landscape of recombination in African Americans

por Hinch, Anjali G., Tandon, Arti, Patterson, Nick, Song, Yunli, Rohland, Nadin, Palmer, Cameron D., Chen, Gary K., Wang, Kai, Buxbaum, Sarah G., Akylbekova, Meggie, Aldrich, Melinda C., Ambrosone, Christine B., Amos, Christopher, Bandera, Elisa V., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Bock, Cathryn H., Boerwinkle, Eric, Cai, Qiuyin, Caporaso, Neil, Casey, Graham, Cupples, L. Adrienne, Deming, Sandra L., Diver, W. Ryan, Divers, Jasmin, Fornage, Myriam, Gillanders, Elizabeth M., Glessner, Joseph, Harris, Curtis C., Hu, Jennifer J., Ingles, Sue A., Isaacs, Williams, John, Esther M., Kao, W. H. Linda, Keating, Brendan, Kittles, Rick A., Kolonel, Laurence N., Larkin, Emma, Le Marchand, Loic, McNeill, Lorna H., Millikan, Robert C., Murphy, Adam, Musani, Solomon, Neslund-Dudas, Christine, Nyante, Sarah, Papanicolaou, George J., Press, Michael F., Psaty, Bruce M., Reiner, Alex P., Rich, Stephen S., Rodriguez-Gil, Jorge L., Rotter, Jerome I., Rybicki, Benjamin A., Schwartz, Ann G., Signorello, Lisa B., Spitz, Margaret, Strom, Sara S., Thun, Michael J., Tucker, Margaret A., Wang, Zhaoming, Wiencke, John K., Witte, John S., Wrensch, Margaret, Wu, Xifeng, Yamamura, Yuko, Zanetti, Krista A., Zheng, Wei, Ziegler, Regina G., Zhu, Xiaofeng, Redline, Susan, Hirschhorn, Joel N., Henderson, Brian E., Taylor, Herman A., Price, Alkes L., Hakonarson, Hakon, Chanock, Stephen J., Haiman, Christopher A., Wilson, James G., Reich, David, Myers, Simon R.
Publicado 2011

Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry

por N'Diaye, Amidou, Chen, Gary K., Palmer, Cameron D., Ge, Bing, Tayo, Bamidele, Mathias, Rasika A., Ding, Jingzhong, Nalls, Michael A., Adeyemo, Adebowale, Adoue, Véronique, Ambrosone, Christine B., Atwood, Larry, Bandera, Elisa V., Becker, Lewis C., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Boerwinkle, Eric, Britton, Angela, Casey, Graham, Chanock, Stephen J., Demerath, Ellen, Deming, Sandra L., Diver, W. Ryan, Fox, Caroline, Harris, Tamara B., Hernandez, Dena G., Hu, Jennifer J., Ingles, Sue A., John, Esther M., Johnson, Craig, Keating, Brendan, Kittles, Rick A., Kolonel, Laurence N., Kritchevsky, Stephen B., Le Marchand, Loic, Lohman, Kurt, Liu, Jiankang, Millikan, Robert C., Murphy, Adam, Musani, Solomon, Neslund-Dudas, Christine, North, Kari E., Nyante, Sarah, Ogunniyi, Adesola, Ostrander, Elaine A., Papanicolaou, George, Patel, Sanjay, Pettaway, Curtis A., Press, Michael F., Redline, Susan, Rodriguez-Gil, Jorge L., Rotimi, Charles, Rybicki, Benjamin A., Salako, Babatunde, Schreiner, Pamela J., Signorello, Lisa B., Singleton, Andrew B., Stanford, Janet L., Stram, Alex H., Stram, Daniel O., Strom, Sara S., Suktitipat, Bhoom, Thun, Michael J., Witte, John S., Yanek, Lisa R., Ziegler, Regina G., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Evans, Michele K., Liu, Yongmei, Becker, Diane M., Cooper, Richard S., Pastinen, Tomi, Henderson, Brian E., Hirschhorn, Joel N., Lettre, Guillaume, Haiman, Christopher A.
Publicado 2011

Correction: Identification, Replication, and Fine-Mapping of Loci Associated with Adult Height in Individuals of African Ancestry

por N'Diaye, Amidou, Chen, Gary K., Palmer, Cameron D., Ge, Bing, Tayo, Bamidele, Mathias, Rasika A., Ding, Jingzhong, Nalls, Michael A., Adeyemo, Adebowale, Adoue, Véronique, Ambrosone, Christine B., Atwood, Larry, Bandera, Elisa V., Becker, Lewis C., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Boerwinkle, Eric, Britton, Angela, Casey, Graham, Chanock, Stephen J., Demerath, Ellen, Deming, Sandra L., Diver, W. Ryan, Fox, Caroline, Harris, Tamara B., Hernandez, Dena G., Hu, Jennifer J., Ingles, Sue A., John, Esther M., Johnson, Craig, Keating, Brendan, Kittles, Rick A., Kolonel, Laurence N., Kritchevsky, Stephen B., Le Marchand, Loic, Lohman, Kurt, Liu, Jiankang, Millikan, Robert C., Murphy, Adam, Musani, Solomon, Neslund-Dudas, Christine, North, Kari E., Nyante, Sarah, Ogunniyi, Adesola, Ostrander, Elaine A., Papanicolaou, George, Patel, Sanjay, Pettaway, Curtis A., Press, Michael F., Redline, Susan, Rodriguez-Gil, Jorge L., Rotimi, Charles, Rybicki, Benjamin A., Salako, Babatunde, Schreiner, Pamela J., Signorello, Lisa B., Singleton, Andrew B., Stanford, Janet L., Stram, Alex H., Stram, Daniel O., Strom, Sara S., Suktitipat, Bhoom, Thun, Michael J., Witte, John S., Yanek, Lisa R., Ziegler, Regina G., Zheng, Wei, Zhu, Xiaofeng, Zmuda, Joseph M., Zonderman, Alan B., Evans, Michele K., Liu, Yongmei, Becker, Diane M., Cooper, Richard S., Pastinen, Tomi, Henderson, Brian E., Hirschhorn, Joel N., Lettre, Guillaume, Haiman, Christopher A.
Publicado 2011

A Meta-Analysis Identifies New Loci Associated with Body Mass index in Individuals of African Ancestry

por Monda, Keri L., Chen, Gary K., Taylor, Kira C., Palmer, Cameron, Edwards, Todd L., Lange, Leslie A., Ng, Maggie C.Y., Adeyemo, Adebowale A., Allison, Matthew A., Bielak, Lawrence F., Chen, Guanji, Graff, Mariaelisa, Irvin, Marguerite R., Rhie, Suhn K., Li, Guo, Liu, Yongmei, Liu, Youfang, Lu, Yingchang, Nalls, Michael A., Sun, Yan V., Wojczynski, Mary K., Yanek, Lisa R., Aldrich, Melinda C., Ademola, Adeyinka, Amos, Christopher I., Bandera, Elisa V., Bock, Cathryn H., Britton, Angela, Broeckel, Ulrich, Cai, Quiyin, Caporaso, Neil E., Carlson, Chris, Carpten, John, Casey, Graham, Chen, Wei-Min, Chen, Fang, Chen, Yii-Der I., Chiang, Charleston W.K., Coetzee, Gerhard A., Demerath, Ellen, Deming-Halverson, Sandra L., Driver, Ryan W., Dubbert, Patricia, Feitosa, Mary F., Freedman, Barry I., Gillanders, Elizabeth M., Gottesman, Omri, Guo, Xiuqing, Haritunians, Talin, Harris, Tamara, Harris, Curtis C., Hennis, Anselm JM, Hernandez, Dena G., McNeill, Lorna H., Howard, Timothy D., Howard, Barbara V., Howard, Virginia J., Johnson, Karen C., Kang, Sun J., Keating, Brendan J., Kolb, Suzanne, Kuller, Lewis H., Kutlar, Abdullah, Langefeld, Carl D., Lettre, Guillaume, Lohman, Kurt, Lotay, Vaneet, Lyon, Helen, Manson, JoAnn E., Maixner, William, Meng, Yan A., Monroe, Kristine R., Morhason-Bello, Imran, Murphy, Adam B., Mychaleckyj, Josyf C., Nadukuru, Rajiv, Nathanson, Katherine L., Nayak, Uma, N’Diaye, Amidou, Nemesure, Barbara, Wu, Suh-Yuh, Leske, M. Cristina, Neslund-Dudas, Christine, Neuhouser, Marian, Nyante, Sarah, Ochs-Balcom, Heather, Ogunniyi, Adesola, Ogundiran, Temidayo O., Ojengbede, Oladosu, Olopade, Olufunmilayo I., Palmer, Julie R., Ruiz-Narvaez, Edward A., Palmer, Nicholette D., Press, Michael F., Rampersaud, Evandine, Rasmussen-Torvik, Laura J., Rodriguez-Gil, Jorge L., Salako, Babatunde, Schadt, Eric E., Schwartz, Ann G., Shriner, Daniel A., Siscovick, David, Smith, Shad B., Wassertheil-Smoller, Sylvia, Speliotes, Elizabeth K., Spitz, Margaret R., Sucheston, Lara, Taylor, Herman, Tayo, Bamidele O., Tucker, Margaret A., Van Den Berg, David J., Velez Edwards, Digna R., Wang, Zhaoming, Wiencke, John K., Winkler, Thomas W., Witte, John S., Wrensch, Margaret, Wu, Xifeng, Yang, James J., Levin, Albert M., Young, Taylor R., Zakai, Neil A., Cushman, Mary, Zanetti, Krista A., Zhao, Jing Hua, Zhao, Wei, Zheng, Yonglan, Zhou, Jie, Ziegler, Regina G., Zmuda, Joseph M., Fernandes, Jyotika K., Gilkeson, Gary S., Kamen, Diane L., Hunt, Kelly J., Spruill, Ida J., Ambrosone, Christine B., Ambs, Stefan, Arnett, Donna K., Atwood, Larry, Becker, Diane M., Berndt, Sonja I., Bernstein, Leslie, Blot, William J., Borecki, Ingrid B., Bottinger, Erwin P., Bowden, Donald W., Burke, Gregory, Chanock, Stephen J., Cooper, Richard S., Ding, Jingzhong, Duggan, David, Evans, Michele K., Fox, Caroline, Garvey, W. Timothy, Bradfield, Jonathan P., Hakonarson, Hakon, Grant, Struan F.A., Hsing, Ann, Chu, Lisa, Hu, Jennifer J., Huo, Dezheng, Ingles, Sue A., John, Esther M., Jordan, Joanne M., Kabagambe, Edmond K., Kardia, Sharon L.R., Kittles, Rick A., Goodman, Phyllis J., Klein, Eric A., Kolonel, Laurence N., Le Marchand, Loic, Liu, Simin, McKnight, Barbara, Millikan, Robert C., Mosley, Thomas H., Padhukasahasram, Badri, Williams, L. Keoki, Patel, Sanjay R., Peters, Ulrike, Pettaway, Curtis A., Peyser, Patricia A., Psaty, Bruce M., Redline, Susan, Rotimi, Charles N., Rybicki, Benjamin A., Sale, Michèle M., Schreiner, Pamela J., Signorello, Lisa B., Singleton, Andrew B., Stanford, Janet L., Strom, Sara S., Thun, Michael J., Vitolins, Mara, Zheng, Wei, Moore, Jason H., Williams, Scott M., Zhu, Xiaofeng, Zonderman, Alan B., Kooperberg, Charles, Papanicolaou, George, Henderson, Brian E., Reiner, Alex P., Hirschhorn, Joel N., Loos, Ruth JF, North, Kari E., Haiman, Christopher A.
Publicado 2013