Using whole-exome sequencing to identify variants inherited from mosaic parents

Por Rios, Jonathan J, Delgado, Mauricio R
Publicado no Eur J Hum Genet (2015)

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

Por Rios, Jonathan, Stein, Evan, Shendure, Jay, Hobbs, Helen H., Cohen, Jonathan C.
Publicado em 2010

Bone marrow adipocytes promote the regeneration of stem cells and hematopoiesis by secreting SCF

Por Zhou, Bo O., Yu, Hua, Yue, Rui, Zhao, Zhiyu, Rios, Jonathan J., Naveiras, Olaia, Morrison, Sean J.
Publicado no Nat Cell Biol (2017)

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly

Por Rios, Jonathan J., Paria, Nandina, Burns, Dennis K., Israel, Bonnie A., Cornelia, Reuel, Wise, Carol A., Ezaki, Marybeth
Publicado em 2013

Homozygosity Mapping Identifies a Bile Acid Biosynthetic Defect in an Adult with Cirrhosis of Unknown Etiology

Por Molho-Pessach, Vered, Rios, Jonathan J., Xing, Chao, Setchell, Kenneth D.R., Cohen, Jonathan C., Hobbs, Helen H.
Publicado em 2012

Deletion of GPIHBP1 causing severe chylomicronemia

Por Rios, Jonathan J., Shastry, Savitha, Jasso, Juan, Hauser, Natalie, Garg, Abhimanyu, Bensadoun, André, Cohen, Jonathan C., Hobbs, Helen H.
Publicado em 2011

Characterization of the equine 2'-5' oligoadenylate synthetase 1 (OAS1) and ribonuclease L (RNASEL) innate immunity genes

Por Rios, Jonathan J, Perelygin, Andrey A, Long, Maureen T, Lear, Teri L, Zharkikh, Andrey A, Brinton, Margo A, Adelson, David L
Publicado em 2007

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic

Por Foley, Samantha B., Rios, Jonathan J., Mgbemena, Victoria E., Robinson, Linda S., Hampel, Heather L., Toland, Amanda E., Durham, Leslie, Ross, Theodora S.
Publicado no EBioMedicine (2014)

Analysis of Induced Pluripotent Stem Cells from a BRCA1 Mutant Family

Por Soyombo, Abigail A., Wu, Yipin, Kolski, Lauren, Rios, Jonathan J., Rakheja, Dinesh, Chen, Alice, Kehler, James, Hampel, Heather, Coughran, Alanna, Ross, Theodora S.
Publicado em 2013

OAS1 Polymorphisms Are Associated with Susceptibility to West Nile Encephalitis in Horses

Por Rios, Jonathan J., Fleming, JoAnn G. W., Bryant, Uneeda K., Carter, Craig N., Huber, John C., Long, Maureen T., Spencer, Thomas E., Adelson, David L.
Publicado em 2010

Minimum Information about a Genotyping Experiment (MIGEN)

Por Huang, Jie, Mirel, Daniel, Pugh, Elizabeth, Xing, Chao, Robinson, Peter N., Pertsemlidis, Alexander, Ding, LiangHao, Kozlitina, Julia, Maher, Joseph, Rios, Jonathan, Story, Michael, Marthandan, Nishanth, Scheuermann, Richard H.
Publicado em 2011

PIK3CA-Related Overgrowth Spectrum (PROS): Diagnostic and Testing Eligibility Criteria, Differential Diagnosis, and Evaluation

Por Keppler-Noreuil, Kim M., Rios, Jonathan J., Parker, Victoria E.R., Semple, Robert K., Lindhurst, Marjorie J., Sapp, Julie C., Alomari, Ahmad, Ezaki, Marybeth, Dobyns, William, Biesecker, Leslie G.
Publicado no Am J Med Genet A (2014)

Asfotase-α improves bone growth, mineralization and strength in mouse models of neurofibromatosis type-1

Por de la Croix Ndong, Jean, Makowski, Alexander James, Uppuganti, Sasidhar, Vignaux, Guillaume, Ono, Koichiro, Perrien, Daniel S., Joubert, Simon, Baglio, Serena R., Granchi, Donatella, Stevenson, David A., Rios, Jonathan J., Nyman, Jeffry S., Elefteriou, Florent
Publicado em 2014

Neurofibromin Deficiency-Associated Transcriptional Dysregulation Suggests a Novel Therapy for Tibial Pseudoarthrosis in NF1

Por Paria, Nandina, Cho, Tae-Joon, Choi, In Ho, Kamiya, Nobuhiro, Kayembe, Kay, Mao, Rong, Margraf, Rebecca L., Obermosser, Gerlinde, Oxendine, Ila, Sant, David W., Song, Mi Hyun, Stevenson, David A., Viskochil, David H., Wise, Carol A., Kim, Harry K.W., Rios, Jonathan J
Publicado no J Bone Miner Res (2014)

CDKN2A/p16 inactivation mechanisms and their relationship to smoke exposure and molecular features in non-small cell lung cancer

Por Tam, Kit W., Zhang, Wei, Soh, Junichi, Stastny, Victor, Chen, Min, Sun, Han, Thu, Kelsie, Rios, Jonathan J., Yang, Chenchen, Marconett, Crystal N., Selamat, Suhaida A., Laird-Offringa, Ite A, Taguchi, Ayumu, Hanash, Samir, Shames, David, Ma, Xiaotu, Zhang, Michael Q, Lam, Wan L., Gazdar, Adi
Publicado em 2013

DNA polymerase-α regulates type I interferon activation through cytosolic RNA:DNA synthesis

Por Starokadomskyy, Petro, Gemelli, Terry, Rios, Jonathan J., Xing, Chao, Wang, Richard C., Li, Haiying, Pokatayev, Vladislav, Dozmorov, Igor, Khan, Shaheen, Miyata, Naoteru, Fraile, Guadalupe, Raj, Prithvi, Xu, Zhe, Xu, Zigang, Ma, Lin, Lin, Zhimiao, Wang, Huijun, Yang, Yong, Ben-Amitai, Dan, Orenstein, Naama, Mussaffi, Huda, Baselga, Eulalia, Tadini, Gianluca, Grunebaum, Eyal, Sarajlija, Adrijan, Krzewski, Konrad, Wakeland, Edward K., Yan, Nan, de la Morena, Maria Teresa, Zinn, Andrew R., Burstein, Ezra
Publicado no Nat Immunol (2016)

Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Por Gray, Mary J., Kannu, Peter, Sharma, Swarkar, Neyt, Christine, Zhang, Dongping, Paria, Nandina, Daniel, Philip B., Whetstone, Heather, Sprenger, Hans-Georg, Hammerschmidt, Philipp, Weng, Angela, Dupuis, Lucie, Jobling, Rebekah, Mendoza-Londono, Roberto, Dray, Michael, Su, Peiqiang, Wilson, Megan J., Kapur, Raj P., McCarthy, Edward F., Alman, Benjamin A., Howard, Andrew, Somers, Gino R., Marshall, Christian R., Manners, Simon, Flanagan, Adrienne M., Rathjen, Karl E., Karol, Lori A., Crawford, Haemish, Markie, David M., Rios, Jonathan J., Wise, Carol A., Robertson, Stephen P.
Publicado no Am J Hum Genet (2015)