Diagnosis of Mosaic Tuberous Sclerosis Complex Using Next-Generation Sequencing of Subtle or Unusual Cutaneous Findings

por Treichel, Alison M., Boeszoermenyi, Barbara, Lee, Chyi-Chia Richard, Moss, Joel, Kwiatkowski, David J., Darling, Thomas N.
Publicado 2023

Assessment of Cancer Cell Line Representativeness using Microarrays for Merkel Cell Carcinoma

por Daily, Kenneth, Coxon, Amy, Williams, Jonathan S., Lee, Chyi-Chia Richard, Coit, Daniel G., Busam, Klaus J., Brownell, Isaac
Publicado 2014

Immune targeting of fibroblast activation protein triggers recognition of multipotent bone marrow stromal cells and cachexia

por Tran, Eric, Chinnasamy, Dhanalakshmi, Yu, Zhiya, Morgan, Richard A., Lee, Chyi-Chia Richard, Restifo, Nicholas P., Rosenberg, Steven A.
Publicado 2013

Birt-Hogg-Dubé syndrome initially diagnosed as tuberous sclerosis complex

por Pithadia, Deeti J., Treichel, Alison M., Lee, Chyi-Chia Richard, Cowen, Edward W., Linehan, W. Marston, Moss, Joel, Darling, Thomas N.
Publicado 2019

Nipple angiofibromas with loss of TSC2 are associated with tuberous sclerosis complex

por Nathan, Neera, Tyburczy, Magdalena E., Hamieh, Lana, Wang, Ji-an, Brown, G. Thomas, Lee, Chyi-Chia Richard, Kwiatkowski, David J., Moss, Joel, Darling, Thomas N.
Publicado 2015

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

por Lindhurst, Marjorie J., Wang, Ji-an, Bloomhardt, Hadley M., Witkowski, Alison M., Singh, Larry N., Bick, David P., Gambello, Michael J., Powell, Cynthia M., Lee, Chyi-Chia Richard, Darling, Thomas N., Biesecker, Leslie G.
Publicado 2013

Identification of Small Molecule Enhancers of Immunotherapy for Melanoma

por Dextras, Christopher, Dashnyam, Myagmarjav, Griner, Lesley A. Mathews, Sundaresan, Janani, Chim, Bryan, Yu, Zhiya, Vodnala, Suman, Lee, Chyi-Chia Richard, Hu, Xin, Southall, Noel, Marugan, Juan J., Jadhav, Ajit, Restifo, Nicholas P., Acquavella, Nicolas, Ferrer, Marc, Singh, Anju
Publicado 2020

Homeostatic Tissue Responses in Skin Biopsies from NOMID Patients with Constitutive Overproduction of IL-1β

por Aubert, Pamela, Suárez-Fariñas, Mayte, Mitsui, Hiroshi, Johnson-Huang, Leanne M., Harden, Jamie Lynn, Pierson, Katherine C., Dolan, Joseph G., Novitskaya, Inna, Coats, Israel, Estes, Jacob, Cowen, Edward W., Plass, Nicole, Lee, Chyi-Chia Richard, Sun, Hong-Wei, Lowes, Michelle A., Goldbach-Mansky, Raphaela
Publicado 2012

Constitutively active Lyn kinase causes a cutaneous small vessel vasculitis and liver fibrosis syndrome

por de Jesus, Adriana A., Chen, Guibin, Yang, Dan, Brdicka, Tomas, Ruth, Natasha M., Bennin, David, Cebecauerova, Dita, Malcova, Hana, Freeman, Helen, Martin, Neil, Svojgr, Karel, Passo, Murray H., Bhuyan, Farzana, Alehashemi, Sara, Rastegar, Andre T., Uss, Katsiaryna, Kardava, Lela, Marrero, Bernadette, Duric, Iris, Omoyinmi, Ebun, Peldova, Petra, Lee, Chyi-Chia Richard, Kleiner, David E., Hadigan, Colleen M., Hewitt, Stephen M., Pittaluga, Stefania, Carmona-Rivera, Carmelo, Calvo, Katherine R., Shah, Nirali, Balascakova, Miroslava, Fink, Danielle L., Kotalova, Radana, Parackova, Zuzana, Peterkova, Lucie, Kuzilkova, Daniela, Campr, Vit, Sramkova, Lucie, Biancotto, Angelique, Brooks, Stephen R., Manes, Cameron, Meffre, Eric, Harper, Rebecca L., Kuehn, Hyesun, Kaplan, Mariana J., Brogan, Paul, Rosenzweig, Sergio D., Merchant, Melinda, Deng, Zuoming, Huttenlocher, Anna, Moir, Susan L., Kuhns, Douglas B., Boehm, Manfred, Skvarova Kramarzova, Karolina, Goldbach-Mansky, Raphaela
Publicado 2023

Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome...

por Kozycki, Christina Torres, Kodati, Shilpa, Huryn, Laryssa, Wang, Hongying, Warner, Blake M, Jani, Priyam, Hammoud, Dima, Abu-Asab, Mones S, Jittayasothorn, Yingyos, Mattapallil, Mary J, Tsai, Wanxia Li, Ullah, Ehsan, Zhou, Ping, Tian, Xiaoying, Soldatos, Ariane, Moutsopoulos, Niki, Kao-Hsieh, Marie, Heller, Theo, Cowen, Edward W, Lee, Chyi-Chia Richard, Toro, Camilo, Kalsi, Shelley, Khavandgar, Zohreh, Baer, Alan, Beach, Margaret, Long Priel, Debra, Nehrebecky, Michele, Rosenzweig, Sofia, Romeo, Tina, Deuitch, Natalie, Brenchley, Laurie, Pelayo, Eileen, Zein, Wadih, Sen, Nida, Yang, Alexander H, Farley, Gary, Sweetser, David A, Briere, Lauren, Yang, Janine, de Oliveira Poswar, Fabiano, Schwartz, Ida Vanessa D, Silva Alves, Tamires, Dusser, Perrine, Koné-Paut, Isabelle, Touitou, Isabelle, Titah, Salah Mohamed, van Hagen, Petrus Martin, van Wijck, Rogier T A, van der Spek, Peter J, Yano, Hiromi, Benneche, Andreas, Apalset, Ellen M, Jansson, Ragnhild Wivestad, Caspi, Rachel R, Kuhns, Douglas Byron, Gadina, Massimo, Takada, Hidetoshi, Ida, Hiroaki, Nishikomori, Ryuta, Verrecchia, Elena, Sangiorgi, Eugenio, Manna, Raffaele, Brooks, Brian P, Sobrin, Lucia, Hufnagel, Robert B, Beck, David, Shao, Feng, Ombrello, Amanda K, Aksentijevich, Ivona, Kastner, Daniel L
Publicado 2022