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Journal Article
Pierson, Tyler Mark, Adams, David, Bonn, Florian, Martinelli, Paola, Cherukuri, Praveen F., Teer, Jamie K., Hansen, Nancy F., Cruz, Pedro, Mullikin, James C., Blakesley, Robert W., Golas, Gretchen, Kwan, Justin, Sandler, Anthony 
ORCID: 0000-0001-9440-2964, Fajardo, Karin Fuentes, Markello, Thomas, Tifft, Cynthia, Blackstone, Craig, Rugarli, Elena I., Langer, Thomas ORCID: 0000-0003-1250-1462, Gahl, William A. and Toro, Camilo
(2011).
Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases.
PLoS Genet., 7 (10).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7390
de Jesus, Adriana A., Hou, Yangfeng, Brooks, Stephen, Malle, Louise, Biancotto, Angelique ORCID: 0000-0003-2271-009X, Huang, Yan, Calvo, Katherine R., Marrero, Bernadette, Moir, Susan, Oler, Andrew J., Deng, Zuoming, Sanchez, Gina A. Montealegre, Ahmed, Amina, Allenspach, Eric, Arabshahi, Bita, Behrens, Edward, Benseler, Susanne, Bezrodnik, Liliana, Bout-Tabaku, Sharon, Brescia, AnneMarie C., Brown, Diane, Burnham, Jon M., Soledad Caldirola, Maria, Carrasco, Ruy, Chan, Alice Y., Cimaz, Rolando, Dancey, Paul, Dare, Jason, DeGuzman, Marietta, Dimitriades, Victoria, Ferguson, Ian, Ferguson, Polly, Finn, Laura, Gattorno, Marco ORCID: 0000-0003-0704-1916, Grom, Alexei A., Hanson, Eric P., Hashkes, Philip J., Hedrich, Christian M., Herzog, Ronit, Horneff, Gerd, Jerath, Rita, Kessler, Elizabeth, Kim, Hanna ORCID: 0000-0002-0595-6533, Kingsbury, Daniel J., Laxer, Ronald M., Lee, Pui Y., Lee-Kirsch, Min Ae, Lewandowski, Laura, Li, Suzanne, Lilleby, Vibke, Mammadova, Vafa, Moorthy, Lakshmi N., Nasrullayeva, Gulnara, O'Neil, Kathleen M., Onel, Karen, Ozen, Seza, Pan, Nancy ORCID: 0000-0001-7884-3751, Pillet, Pascal, Piotto, Daniela G. P., Punaro, Marilynn G., Reiff, Andreas, Reinhardt, Adam, Rider, Lisa G., Rivas-Chacon, Rafael, Ronis, Tova, Roesen-Wolff, Angela, Roth, Johannes ORCID: 0000-0002-6109-1503, Ruth, Natasha Mckerran, Rygg, Marite, Schmeling, Heinrike, Schulert, Grant, Scott, Christiaan, Seminario, Gisella, Shulman, Andrew, Sivaraman, Vidya, Son, Mary Beth, Stepanovskiy, Yuriy, Stringer, Elizabeth, Taber, Sara, Terreri, Maria Teresa, Tifft, Cynthia, Torgerson, Troy, Tosi, Laura, Van Royen-Kerkhof, Annet, Muskardin, Theresa Wampler, Canna, Scott W. and Goldbach-Mansky, Raphaela
(2020).
Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases.
J. Clin. Invest., 130 (4).
S. 1669 - 1683.
ANN ARBOR:
AMER SOC CLINICAL INVESTIGATION INC.
ISSN 1558-8238