A rare novel mutation in TECTA causes autosomal dominant nonsyndromic hearing loss in a Mongolian family

por Bai, Haihua, Yang, Xukui, Temuribagen, Guilan, Suyalatu, Narisu, Narisu, Wu, Huiguang, Chen, Yujie, Liu, Yangjian, Wu, Qizhu
Publicado 2014

Use of microarray hybrid capture and next-generation sequencing to identify the anatomy of a transgene

por DuBose, Amanda J., Lichtenstein, Stephen T., Narisu, Narisu, Bonnycastle, Lori L., Swift, Amy J., Chines, Peter S., Collins, Francis S.
Publicado 2013

Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts

por Narisu, Narisu, Rothwell, Rebecca, Vrtačnik, Peter, Rodríguez, Sofía, Didion, John, Zöllner, Sebastian, Erdos, Michael R., Collins, Francis S., Eriksson, Maria
Publicado en Aging Cell (2019)

A Drosophila functional evaluation of candidates from human genome-wide association studies of type 2 diabetes and related metabolic traits identifies tissue-specific roles for dHH...

por Pendse, Jay, Ramachandran, Prasanna V, Na, Jianbo, Narisu, Narisu, Fink, Jill L, Cagan, Ross L, Collins, Francis S, Baranski, Thomas J
Publicado 2013

Single-cell transcriptomics from human pancreatic islets: sample preparation matters

por Bonnycastle, Lori L, Gildea, Derek E, Yan, Tingfen, Narisu, Narisu, Swift, Amy J, Wolfsberg, Tyra G, Erdos, Michael R, Collins, Francis S
Publicado en Biol Methods Protoc (2019)

Putative Prostate Cancer Risk SNP in an Androgen Receptor‐Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites

por Bu, Huajie, Narisu, Narisu, Schlick, Bettina, Rainer, Johannes, Manke, Thomas, Schäfer, Georg, Pasqualini, Lorenza, Chines, Peter, Schweiger, Michal R., Fuchsberger, Christian, Klocker, Helmut
Publicado en Hum Mutat (2015)

miR-22 and miR-29a Are Members of the Androgen Receptor Cistrome Modulating LAMC1 and Mcl-1 in Prostate Cancer

por Pasqualini, Lorenza, Bu, Huajie, Puhr, Martin, Narisu, Narisu, Rainer, Johannes, Schlick, Bettina, Schäfer, Georg, Angelova, Mihaela, Trajanoski, Zlatko, Börno, Stefan T., Schweiger, Michal R., Fuchsberger, Christian, Klocker, Helmut
Publicado en Mol Endocrinol (2015)

Single-cell ATAC-Seq in human pancreatic islets and deep learning upscaling of rare cells reveals cell-specific type 2 diabetes regulatory signatures

por Rai, Vivek, Quang, Daniel X., Erdos, Michael R., Cusanovich, Darren A., Daza, Riza M., Narisu, Narisu, Zou, Luli S., Didion, John P., Guan, Yuanfang, Shendure, Jay, Parker, Stephen C.J., Collins, Francis S.
Publicado en Mol Metab (2019)

Association Analysis of Genetic Variants with Type 2 Diabetes in a Mongolian Population in China

por Bai, Haihua, Liu, Haiping, Suyalatu, Suyalatu, Guo, Xiaosen, Chu, Shandan, Chen, Ying, Lan, Tianming, Borjigin, Burenbatu, Orlov, Yuriy L., Posukh, Olga L., Yang, Xiuqin, Guilan, Guilan, Osipova, Ludmila P., Wu, Qizhu, Narisu, Narisu
Publicado en J Diabetes Res (2015)

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

Comprehensive Analysis of Pathogenic Deletion Variants in Fanconi Anemia Genes

por Flynn, Elizabeth K., Kamat, Aparna, Lach, Francis P., Donovan, Frank X., Kimble, Danielle C., Narisu, Narisu, Sanborn, Erica, Boulad, Farid, Davies, Stella M., Gillio, Alfred P., Harris, Richard E., MacMillan, Margaret L., Wagner, John E., Smogorzewska, Agata, Auerbach, Arleen D., Ostrander, Elaine A., Chandrasekharappa, Settara C.
Publicado en Hum Mutat (2014)

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 en PLoS Genet (2017)

Colocalization of GWAS and eQTL signals at loci with multiple signals identifies additional candidate genes for body fat distribution

por Wu, Ying, Broadaway, K Alaine, Raulerson, Chelsea K, Scott, Laura J, Pan, Calvin, Ko, Arthur, He, Aiqing, Tilford, Charles, Fuchsberger, Christian, Locke, Adam E, Stringham, Heather M, Jackson, Anne U, Narisu, Narisu, Kuusisto, Johanna, Pajukanta, Päivi, Collins, Francis S, Boehnke, Michael, Laakso, Markku, Lusis, Aldons J, Civelek, Mete, Mohlke, Karen L
Publicado en Hum Mol Genet (2019)

Integrative analysis of gene expression, DNA methylation, physiological traits, and genetic variation in human skeletal muscle

por Taylor, D. Leland, Jackson, Anne U., Narisu, Narisu, Hemani, Gibran, Erdos, Michael R., Chines, Peter S., Swift, Amy, Idol, Jackie, Didion, John P., Welch, Ryan P., Kinnunen, Leena, Saramies, Jouko, Lakka, Timo A., Laakso, Markku, Tuomilehto, Jaakko, Parker, Stephen C. J., Koistinen, Heikki A., Davey Smith, George, Boehnke, Michael, Scott, Laura J., Birney, Ewan, Collins, Francis S.
Publicado en Proc Natl Acad Sci U S A (2019)

In Vivo Base Editing Rescues Hutchinson-Gilford Progeria Syndrome in Mice

por Koblan, Luke W., Erdos, Michael R., Wilson, Christopher, Cabral, Wayne A., Levy, Jonathan M., Xiong, Zheng-Mei, Tavarez, Urraca L., Davison, Lindsay, Gete, Yantenew G., Mao, Xiaojing, Newby, Gregory A., Doherty, Sean P., Narisu, Narisu, Sheng, Quanhu, Krilow, Chad, Lin, Charles Y., Gordon, Leslie B., Cao, Kan, Collins, Francis S., Brown, Jonathan D., Liu, David R.
Publicado en Nature (2021)

Comprehensive Association Study of Type 2 Diabetes and Related Quantitative Traits With 222 Candidate Genes

por Gaulton, Kyle J., Willer, Cristen J., Li, Yun, Scott, Laura J., Conneely, Karen N., Jackson, Anne U., Duren, William L., Chines, Peter S., Narisu, Narisu, Bonnycastle, Lori L., Luo, Jingchun, Tong, Maurine, Sprau, Andrew G., Pugh, Elizabeth W., Doheny, Kimberly F., Valle, Timo T., Abecasis, Gonçalo R., Tuomilehto, Jaakko, Bergman, Richard N., Collins, Francis S., Boehnke, Michael, Mohlke, Karen L.
Publicado 2008

Genetic effects on liver chromatin accessibility identify disease regulatory variants

por Currin, Kevin W., Erdos, Michael R., Narisu, Narisu, Rai, Vivek, Vadlamudi, Swarooparani, Perrin, Hannah J., Idol, Jacqueline R., Yan, Tingfen, Albanus, Ricardo D’Oliveira, Broadaway, K. Alaine, Etheridge, Amy S., Bonnycastle, Lori L., Orchard, Peter, Didion, John P., Chaudhry, Amarjit S., Innocenti, Federico, Schuetz, Erin G., Scott, Laura J., Parker, Stephen C.J., Collins, Francis S., Mohlke, Karen L.
Publicado en Am J Hum Genet (2021)

Genetic regulatory signatures underlying islet gene expression and type 2 diabetes

por Varshney, Arushi, Scott, Laura J., Welch, Ryan P., Erdos, Michael R., Chines, Peter S., Narisu, Narisu, Albanus, Ricardo D’O., Orchard, Peter, Wolford, Brooke N., Kursawe, Romy, Vadlamudi, Swarooparani, Cannon, Maren E., Didion, John P., Hensley, John, Kirilusha, Anthony, Bonnycastle, Lori L., Taylor, D. Leland, Watanabe, Richard, Mohlke, Karen L., Boehnke, Michael, Collins, Francis S., Parker, Stephen C. J., Stitzel, Michael L.
Publicado en Proc Natl Acad Sci U S A (2017)

Genetic Regulation of Adipose Gene Expression and Cardio-Metabolic Traits

por Civelek, Mete, Wu, Ying, Pan, Calvin, Raulerson, Chelsea K., Ko, Arthur, He, Aiqing, Tilford, Charles, Saleem, Niyas K., Stančáková, Alena, Scott, Laura J., Fuchsberger, Christian, Stringham, Heather M., Jackson, Anne U., Narisu, Narisu, Chines, Peter S., Small, Kerrin S., Kuusisto, Johanna, Parks, Brian W., Pajukanta, Päivi, Kirchgessner, Todd, Collins, Francis S., Gargalovic, Peter S., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Lusis, Aldons J.
Publicado en Am J Hum Genet (2017)

Multiomic Profiling Identifies cis-Regulatory Networks Underlying Human Pancreatic β Cell Identity and Function

por Lawlor, Nathan, Márquez, Eladio J., Orchard, Peter, Narisu, Narisu, Shamim, Muhammad Saad, Thibodeau, Asa, Varshney, Arushi, Kursawe, Romy, Erdos, Michael R., Kanke, Matt, Gu, Huiya, Pak, Evgenia, Dutra, Amalia, Russell, Sheikh, Li, Xingwang, Piecuch, Emaly, Luo, Oscar, Chines, Peter S., Fuchbserger, Christian, Sethupathy, Praveen, Aiden, Aviva Presser, Ruan, Yijun, Aiden, Erez Lieberman, Collins, Francis S., Ucar, Duygu, Parker, Stephen C.J., Stitzel, Michael L.
Publicado en Cell Rep (2019)