A Homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans

Por Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, ÓReilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.
Publicado em 2013

A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder

Por Strauss, Kevin A., Markx, Sander, Georgi, Benjamin, Paul, Steven M., Jinks, Robert N., Hoshi, Toshinori, McDonald, Ann, First, Michael B., Liu, Wencheng, Benkert, Abigail R., Heaps, Adam D., Tian, Yutao, Chakravarti, Aravinda, Bucan, Maja, Puffenberger, Erik G.
Publicado no Hum Mol Genet (2014)

CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA(+) Lon Protease

Por Strauss, Kevin A., Jinks, Robert N., Puffenberger, Erik G., Venkatesh, Sundararajan, Singh, Kamalendra, Cheng, Iteen, Mikita, Natalie, Thilagavathi, Jayapalraja, Lee, Jae, Sarafianos, Stefan, Benkert, Abigail, Koehler, Alanna, Zhu, Anni, Trovillion, Victoria, McGlincy, Madeleine, Morlet, Thierry, Deardorff, Matthew, Innes, A. Micheil, Prasad, Chitra, Chudley, Albert E., Lee, Irene Nga Wing, Suzuki, Carolyn K.
Publicado no Am J Hum Genet (2015)

Genetic Mapping and Exome Sequencing Identify Variants Associated with Five Novel Diseases

Por Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.
Publicado em 2012

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Por Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., Johnson, Rachel, Stover, Jessi A., Gottlieb, Steven, Bartholdi, Deborah, Rauch, Anita, Goldstein, Amy, Boyd-Kyle, Victoria, Aldinger, Kimberly A., Mirzaa, Ghayda M., Nissen, Anke, Brigatti, Karlla W., Puffenberger, Erik G., Millen, Kathleen J., Strauss, Kevin A., Dobyns, William B., Troy, Carol M., Jinks, Robert N.
Publicado no Am J Hum Genet (2016)

Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73

Por Jinks, Robert N., Puffenberger, Erik G., Baple, Emma, Harding, Brian, Crino, Peter, Fogo, Agnes B., Wenger, Olivia, Xin, Baozhong, Koehler, Alanna E., McGlincy, Madeleine H., Provencher, Margaret M., Smith, Jeffrey D., Tran, Linh, Al Turki, Saeed, Chioza, Barry A., Cross, Harold, Harlalka, Gaurav V., Hurles, Matthew E., Maroofian, Reza, Heaps, Adam D., Morton, Mary C., Stempak, Lisa, Hildebrandt, Friedhelm, Sadowski, Carolin E., Zaritsky, Joshua, Campellone, Kenneth, Morton, D. Holmes, Wang, Heng, Crosby, Andrew, Strauss, Kevin A.
Publicado no Brain (2015)