From Genotype to Phenotype: Nonsense Variants in SLC13A1 Are Associated with Decreased Serum Sulfate and Increased Serum Aminotransferases

por Tise, Christina G., Perry, James A., Anforth, Leslie E., Pavlovich, Mary A., Backman, Joshua D., Ryan, Kathleen A., Lewis, Joshua P., O’Connell, Jeffrey R., Yerges-Armstrong, Laura M., Shuldiner, Alan R.
Publicado 2016

Sex-specific effects of serum sulfate level and SLC13A1 nonsense variants on DHEA homeostasis

por Tise, Christina G., Anforth, Leslie E., Zhou, Albert E., Perry, James A., McArdle, Patrick F., Streeten, Elizabeth A., Shuldiner, Alan R., Yerges-Armstrong, Laura M.
Publicado 2017

The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature

por Ben-Avraham, Danny, Govindaraju, Diddahally R., Budagov, Temuri, Fradin, Delphine, Durda, Peter, Liu, Bing, Ott, Sandy, Gutman, Danielle, Sharvit, Lital, Kaplan, Robert, Bougnères, Pierre, Reiner, Alex, Shuldiner, Alan R., Cohen, Pinchas, Barzilai, Nir, Atzmon, Gil
Publicado 2017

Imaging-genetics of sex differences in ASD: distinct effects of OXTR variants on brain connectivity

por Hernandez, Leanna M., Lawrence, Katherine E., Padgaonkar, N. Tanya, Inada, Marisa, Hoekstra, Jackson N., Lowe, Jennifer K., Eilbott, Jeffrey, Jack, Allison, Aylward, Elizabeth, Gaab, Nadine, Van Horn, John D., Bernier, Raphael A., McPartland, James C., Webb, Sara J., Pelphrey, Kevin A., Green, Shulamite A., Geschwind, Daniel H., Bookheimer, Susan Y., Dapretto, Mirella
Publicado 2020

Social Attention in Autism: Neural Sensitivity to Speech Over Background Noise Predicts Encoding of Social Information

por Hernandez, Leanna M., Green, Shulamite A., Lawrence, Katherine E., Inada, Marisa, Liu, Janelle, Bookheimer, Susan Y., Dapretto, Mirella
Publicado 2020

Prevalence, control, and treatment of diabetes, hypertension, and high cholesterol in the Amish

por He, Shisi, Ryan, Kathleen A, Streeten, Elizabeth A, McArdle, Patrick F, Daue, Melanie, Trubiano, Donna, Rohrer, Yvonne, Donnelly, Patrick, Drolet, Maryann, Newcomer, Sylvia, Shaub, Susan, Weitzel, Nancy, Shuldiner, Alan R, Pollin, Toni I, Mitchell, Braxton D
Publicado 2020

Sensory over-responsivity is related to GABAergic inhibition in thalamocortical circuits

por Wood, Emily T., Cummings, Kaitlin K., Jung, Jiwon, Patterson, Genevieve, Okada, Nana, Guo, Jia, O’Neill, Joseph, Dapretto, Mirella, Bookheimer, Susan Y., Green, Shulamite A.
Publicado 2021

Myocardial Fibrosis Among Antiretroviral Therapy-Treated Persons With Human Immunodeficiency Virus in South Africa

por Shuldiner, Scott R, Wong, Lye-Yeng, Peterson, Tess E, Wolfson, Julian, Jermy, S, Saad, H, Lumbamba, Mbalabu A J, Singh, A, Shey, M, Meintjes, G, Ntusi, N, Ntsekhe, M, Baker, J V
Publicado 2020

Exome Sequencing of 21 Bardet‐Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians

por Day, Samantha E., Muller, Yunhua L., Koroglu, Cigdem, Kobes, Sayuko, Wiedrich, Kim, Mahkee, Darin, Kim, Hye In, Van Hout, Cris, Gosalia, Nehal, Ye, Bin, Shuldiner, Alan R., Knowler, William C., Hanson, Robert L., Bogardus, Clifton, Baier, Leslie J.
Publicado 2021

Genome sequencing unveils a regulatory landscape of platelet reactivity

por Keramati, Ali R., Chen, Ming-Huei, Rodriguez, Benjamin A. T., Yanek, Lisa R., Bhan, Arunoday, Gaynor, Brady J., Ryan, Kathleen, Brody, Jennifer A., Zhong, Xue, Wei, Qiang, Kammers, Kai, Kanchan, Kanika, Iyer, Kruthika, Kowalski, Madeline H., Pitsillides, Achilleas N., Cupples, L. Adrienne, Li, Bingshan, Schlaeger, Thorsten M., Shuldiner, Alan R., O’Connell, Jeffrey R., Ruczinski, Ingo, Mitchell, Braxton D., Faraday, Nauder, Taub, Margaret A., Becker, Lewis C., Lewis, Joshua P., Mathias, Rasika A., Johnson, Andrew D.
Publicado 2021

Monitoring the Spatiotemporal Difference in Glacier Elevation on Bogda Mountain from 2000 to 2017

por Du, Weibing, Shi, Ningke, Xu, Linjuan, Zhang, Shiqiong, Ma, Dandan, Wang, Shuangting
Publicado 2021

A Successful Dental Care Referral Program for Low-Income Pregnant Women in New York

por Russell, Stefanie L., Kerpen, Steven J., Rabin, Jill M., Burakoff, Ronald P., Yang, Chengwu, Huang, Shulamite S.
Publicado 2021

An Amish founder population reveals rare-population genetic determinants of the human lipidome

por Montasser, May E., Aslibekyan, Stella, Srinivasasainagendra, Vinodh, Tiwari, Hemant K., Patki, Amit, Bagheri, Minoo, Kind, Tobias, Barupal, Dinesh Kumar, Fan, Sili, Perry, James, Ryan, Kathleen A., Shuldiner, Alan R., Arnett, Donna K., Beitelshees, Amber L., Irvin, Marguerite Ryan, O’Connell, Jeffrey R.
Publicado 2022

Spatiotemporal variation of chasmogamy and cleistogamy in a native perennial grass: fecundity, reproductive allocation and allometry

por Cheplick, Gregory P
Publicado 2023

Individual Plasticity of the Shade Response of the Invasive Solidago canadensis in China

por Du, Leshan, Liu, Haiyan, Yan, Ming, Li, Junmin, Li, Junsheng
Publicado 2017

A biomimetic fly photoreceptor model elucidates how stochastic adaptive quantal sampling provides a large dynamic range

por Song, Zhuoyi, Juusola, Mikko
Publicado 2017

Plasma IL-23 and IL-5 as surrogate markers of lesion metabolic activity in patients with hepatic alveolar echinococcosis

por Tuxun, Tuerhongjiang, Apaer, Shadike, Ma, Hai-Zhang, Zhao, Jin-Ming, Lin, Ren-Yong, Aji, Tuerganaili, Shao, Ying-Mei, Wen, Hao
Publicado 2018

Hierarchical nickel valence gradient stabilizes high-nickel content layered cathode materials

por Lin, Ruoqian, Bak, Seong-Min, Shin, Youngho, Zhang, Rui, Wang, Chunyang, Kisslinger, Kim, Ge, Mingyuan, Huang, Xiaojing, Shadike, Zulipiya, Pattammattel, Ajith, Yan, Hanfei, Chu, Yong, Wu, Jinpeng, Yang, Wanli, Whittingham, M. Stanley, Xin, Huolin L., Yang, Xiao-Qing
Publicado 2021

Impact of Albendazole on Cytokine and Chemokine Response Profiles in Echinococcus multilocularis-Inoculated Mice

por Wu, Jing, Ma, Hai-zhang, Apaer, Shadike, Anweier, Nuerzatijiang, Zeng, Qi, Fulati, Xiafukati, Li, Tao, Zhao, Jin-ming, Wen, Hao, Tuxun, Tuerhongjiang
Publicado 2021

A low abundance of genus Bacteroides in gut microbiota is negatively correlated with blood phenylalanine levels in Uygur patients with phenylketonuria

por Su, Yajie, Shadike, Qiaolibang, Wang, Mingbang, Jiang, Haili, Liu, Wanying, Liu, Jingfang, Tuerdi, Rena, Zhou, Wenhao, Li, Long
Publicado 2021