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 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

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 2015

Single-cell transcriptomic profiling of human pancreatic islets reveals genes responsive to glucose exposure over 24 hours

por Grenko, Caleb M., Bonnycastle, Lori L., Taylor, Henry J., Yan, Tingfen, Swift, Amy J., Robertson, Catherine C., Narisu, Narisu, Erdos, Michael R., Collins, Francis S., Taylor, D. Leland
Publicado 2023

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 2019

Human pancreatic islet microRNAs implicated in diabetes and related traits by large-scale genetic analysis

por Taylor, Henry J., Hung, Yu-Han, Narisu, Narisu, Erdos, Michael R., Kanke, Matthew, Yan, Tingfen, Grenko, Caleb M., Swift, Amy J., Bonnycastle, Lori L., Sethupathy, Praveen, Collins, Francis S., Taylor, D. Leland
Publicado 2023

A Transcription Start Site Map in Human Pancreatic Islets Reveals Functional Regulatory Signatures

por Varshney, Arushi, Kyono, Yasuhiro, Elangovan, Venkateswaran Ramamoorthi, Wang, Collin, Erdos, Michael R., Narisu, Narisu, Albanus, Ricardo D’Oliveira, Orchard, Peter, Stitzel, Michael L., Collins, Francis S., Kitzman, Jacob O., Parker, Stephen C.J.
Publicado 2021

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 2015

Bone dysplasia in Hutchinson‐Gilford progeria syndrome is associated with dysregulated differentiation and function of bone cell populations

por Cabral, Wayne A., Stephan, Chris, Terajima, Masahiko, Thaivalappil, Abhirami A., Blanchard, Owen, Tavarez, Urraca L., Narisu, Narisu, Yan, Tingfen, Wincovitch, Stephen M., Taga, Yuki, Yamauchi, Mitsuo, Kozloff, Kenneth M., Erdos, Michael R., Collins, Francis S.
Publicado 2023

Modeling islet enhancers using deep learning identifies candidate causal variants at loci associated with T2D and glycemic traits

por Hudaiberdiev, Sanjarbek, Taylor, D. Leland, Song, Wei, Narisu, Narisu, Bhuiyan, Redwan M., Taylor, Henry J., Tang, Xuming, Yan, Tingfen, Swift, Amy J., Bonnycastle, Lori L., Consortium, DIAMANTE, Chen, Shuibing, Stitzel, Michael L., Erdos, Michael R., Ovcharenko, Ivan, Collins, Francis S.
Publicado 2023

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

An integrative single-cell multi-omics profiling of human pancreatic islets identifies T1D associated genes and regulatory signals

por Zhao, Zeping, D’Oliveira Albanus, Ricardo, Taylor, Henry, Tang, Xuming, Han, Yuling, Orchard, Peter, Varshney, Arushi, Zhang, Tuo, Manickam, Nandini, Erdos, Mike, Narisu, Narisu, Taylor, Leland, Saavedra, Xiaxia, Zhong, Aaron, Li, Bo, Zhou, Ting, Naji, Ali, Liu, Chengyang, Collins, Francis, Parker, Stephen CJ, Chen, Shuibing
Publicado 2023

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

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 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 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

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 2019

ACE2 expression in adipose tissue is associated with COVID-19 cardio-metabolic risk factors and cell type composition

por El-Sayed Moustafa, Julia S., Jackson, Anne U., Brotman, Sarah M., Guan, Li, Villicaña, Sergio, Roberts, Amy L., Zito, Antonino, Bonnycastle, Lori, Erdos, Michael R., Narisu, Narisu, Stringham, Heather M., Welch, Ryan, Yan, Tingfen, Lakka, Timo, Parker, Stephen, Tuomilehto, Jaakko, Collins, Francis S., Pajukanta, Päivi, Boehnke, Michael, Koistinen, Heikki A., Laakso, Markku, Falchi, Mario, Bell, Jordana T., Scott, Laura J., Mohlke, Karen L., Small, Kerrin S.
Publicado 2020