Low-abundant bacteria drive compositional changes in the gut microbiota after dietary alteration

por Benjamino, Jacquelynn, Lincoln, Stephen, Srivastava, Ranjan, Graf, Joerg
Publicado 2018

Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

por Kobayashi, Yuya, Yang, Shan, Nykamp, Keith, Garcia, John, Lincoln, Stephen E., Topper, Scott E.
Publicado 2017

Sources of discordance among germ-line variant classifications in ClinVar

por Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Publicado 2017

Correction: Corrigendum: Sources of discordance among germ-line variant classifications in ClinVar

por Yang, Shan, Lincoln, Stephen E, Kobayashi, Yuya, Nykamp, Keith, Nussbaum, Robert L, Topper, Scott
Publicado 2017

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes

por Truty, Rebecca, Paul, Joshua, Kennemer, Michael, Lincoln, Stephen E., Olivares, Eric, Nussbaum, Robert L., Aradhya, Swaroop
Publicado 2018

β-Cyclodextrin- and adamantyl-substituted poly(acrylate) self-assembling aqueous networks designed for controlled complexation and release of small molecules

por Yan, Liang, Pham, Duc-Truc, Clements, Philip, Lincoln, Stephen F, Wang, Jie, Guo, Xuhong, Easton, Christopher J
Publicado 2017

Preparation of a poly(acrylic acid) based hydrogel with fast adsorption rate and high adsorption capacity for the removal of cationic dyes

por Yuan, Zhenyu, Wang, Jie, Wang, Yiming, Liu, Qian, Zhong, Yujie, Wang, Yu, Li, Li, Lincoln, Stephen F., Guo, Xuhong
Publicado 2019

Supramolecular polymer assembly in aqueous solution arising from cyclodextrin host–guest complexation

por Wang, Jie, Qiu, Zhiqiang, Wang, Yiming, Li, Li, Guo, Xuhong, Pham, Duc-Truc, Lincoln, Stephen F, Prud’homme, Robert K
Publicado 2016

Consistency of BRCA1 and BRCA2 Variant Classifications Among Clinical Diagnostic Laboratories

por Lincoln, Stephen E., Yang, Shan, Cline, Melissa S., Kobayashi, Yuya, Zhang, Can, Topper, Scott, Haussler, David, Paten, Benedict, Nussbaum, Robert L.
Publicado 2017

Yield and Utility of Germline Testing Following Tumor Sequencing in Patients With Cancer

por Lincoln, Stephen E., Nussbaum, Robert L., Kurian, Allison W., Nielsen, Sarah M., Das, Kingshuk, Michalski, Scott, Yang, Shan, Ngo, Nhu, Blanco, Amie, Esplin, Edward D.
Publicado 2020

A Rigorous Interlaboratory Examination of the Need to Confirm Next-Generation Sequencing–Detected Variants with an Orthogonal Method in Clinical Genetic Testing

por Lincoln, Stephen E., Truty, Rebecca, Lin, Chiao-Feng, Zook, Justin M., Paul, Joshua, Ramey, Vincent H., Salit, Marc, Rehm, Heidi L., Nussbaum, Robert L., Lebo, Matthew S.
Publicado 2019

Dynamic Transcriptomic and Phosphoproteomic Analysis During Cell Wall Stress in Aspergillus nidulans

por Chelius, Cynthia, Huso, Walker, Reese, Samantha, Doan, Alexander, Lincoln, Stephen, Lawson, Kelsi, Tran, Bao, Purohit, Raj, Glaros, Trevor, Srivastava, Ranjan, Harris, Steven D., Marten, Mark R.
Publicado 2020

Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation among Human Populations, Compared to Other Diseases

por Chen, Rong, Corona, Erik, Sikora, Martin, Dudley, Joel T., Morgan, Alex A., Moreno-Estrada, Andres, Nilsen, Geoffrey B., Ruau, David, Lincoln, Stephen E., Bustamante, Carlos D., Butte, Atul J.
Publicado 2012

Altered secretion patterns and cell wall organization caused by loss of PodB function in the filamentous fungus Aspergillus nidulans

por Boppidi, Karthik R., Ribeiro, Liliane Fraga Costa, Iambamrung, Sirasa, Nelson, Sidney M., Wang, Yan, Momany, Michelle, Richardson, Elizabeth A., Lincoln, Stephen, Srivastava, Ranjan, Harris, Steven D., Marten, Mark R.
Publicado 2018

Pollitt syndrome patients carry mutation in TTDN1

por Swagemakers, Sigrid M.A., Jaspers, Nicolaas G.J., Raams, Anja, Heijsman, Daphne, Vermeulen, Wim, Troelstra, Christine, Kremer, Andreas, Lincoln, Stephen E., Tearle, Rick, Hoeijmakers, Jan H.J., van der Spek, Peter J.
Publicado 2014

Germline hemizygous deletion of CDKN2A–CDKN2B locus in a patient presenting with Li–Fraumeni syndrome

por Chan, Sock Hoai, Lim, Weng Khong, Michalski, Scott T, Lim, Jing Quan, Ishak, Nur Diana Binte, Met-Domestici, Marie, Young, Cedric Ng Chuan, Vikstrom, Karen, Esplin, Edward D, Fulbright, Jennifer, Ang, Mei Kim, Wee, Joseph, Sittampalam, Kesavan, Farid, Mohamad, Lincoln, Stephen E, Itahana, Koji, Abdullah, Syafiq, Teh, Bin Tean, Ngeow, Joanne
Publicado 2016

Comprehensive Analysis of Aspergillus nidulans PKA Phosphorylome Identifies a Novel Mode of CreA Regulation

por Ribeiro, Liliane F. C., Chelius, Cynthia, Boppidi, Karthik R., Naik, Nisha S., Hossain, Simin, Ramsey, Jessica J. J., Kumar, Jyothi, Ribeiro, Lucas F., Ostermeier, Marc, Tran, Bao, Ah Goo, Young, de Assis, Leandro J., Ulas, Mevlut, Bayram, Ozgur, Goldman, Gustavo H., Lincoln, Stephen, Srivastava, Ranjan, Harris, Steven D., Marten, Mark R.
Publicado 2019

One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

por Lincoln, Stephen E., Hambuch, Tina, Zook, Justin M., Bristow, Sara L., Hatchell, Kathryn, Truty, Rebecca, Kennemer, Michael, Shirts, Brian H., Fellowes, Andrew, Chowdhury, Shimul, Klee, Eric W., Mahamdallie, Shazia, Cleveland, Megan H., Vallone, Peter M., Ding, Yan, Seal, Sheila, DeSilva, Wasanthi, Tomson, Farol L., Huang, Catherine, Garlick, Russell K., Rahman, Nazneen, Salit, Marc, Kingsmore, Stephen F., Ferber, Matthew J., Aradhya, Swaroop, Nussbaum, Robert L.
Publicado 2021

Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond BRCA1 and BRCA2 in Breast and Ovarian Cancer Patients

por Espinel, Whitney, Champine, Marjan, Hampel, Heather, Jeter, Joanne, Sweet, Kevin, Pilarski, Robert, Pearlman, Rachel, Shane, Kate, Brock, Pamela, Westman, Judith A., Kipnis, Lindsay, Sotelo, Jilliane, Chittenden, Anu, Culver, Samantha, Stopfer, Jill E., Schneider, Katherine A., Sacca, Rosalba, Koeller, Diane R., Gaonkar, Shraddha, Vaccari, Erica, Kane, Sarah, Michalski, Scott T., Yang, Shan, Nielsen, Sarah M., Bristow, Sara L., Lincoln, Stephen E., Nussbaum, Robert L., Esplin, Edward D.
Publicado 2022

Curated variation benchmarks for challenging medically-relevant autosomal genes

por Wagner, Justin, Olson, Nathan D, Harris, Lindsay, McDaniel, Jennifer, Cheng, Haoyu, Fungtammasan, Arkarachai, Hwang, Yih-Chii, Gupta, Richa, Wenger, Aaron M, Rowell, William J, Khan, Ziad M, Farek, Jesse, Zhu, Yiming, Pisupati, Aishwarya, Mahmoud, Medhat, Xiao, Chunlin, Yoo, Byunggil, Sahraeian, Sayed Mohammad Ebrahim, Miller, Danny E., Jáspez, David, Lorenzo-Salazar, José M., Muñoz-Barrera, Adrián, Rubio-Rodríguez, Luis A., Flores, Carlos, Narzisi, Giuseppe, Evani, Uday Shanker, Clarke, Wayne E., Lee, Joyce, Mason, Christopher E., Lincoln, Stephen E., Miga, Karen H., Ebbert, Mark T. W., Shumate, Alaina, Li, Heng, Chin, Chen-Shan, Zook, Justin M, Sedlazeck, Fritz J
Publicado 2022