CODAS Syndrome Is Associated with Mutations of LONP1, Encoding Mitochondrial AAA+ Lon Protease von 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.

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Genomic diagnostics within a medically underserved population: efficacy and implications von Strauss, Kevin A., Gonzaga-Jauregui, Claudia, Brigatti, Karlla W., Williams, Katie B., King, Alejandra K., Van Hout, Cristopher, Robinson, Donna L., Young, Millie, Praveen, Kavita, Heaps, Adam D., Kuebler, Mindy, Baras, Aris, Reid, Jeffrey G., Overton, John D., Dewey, Frederick E., Jinks, Robert N., Finnegan, Ian, Mellis, Scott J., Shuldiner, Alan R., Puffenberger, Erik G.

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An Amish founder mutation disrupts a PI(3)P-WHAMM-Arp2/3 complex-driven autophagosomal remodeling pathway von Mathiowetz, Alyssa J, Baple, Emma, Russo, Ashley J, Coulter, Alyssa M, Carrano, Eric, Brown, Judith D, Jinks, Robert N, Crosby, Andrew H, Campellone, Kenneth G

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

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Genetic mapping and exome sequencing identify variants associated with five novel diseases von 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

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Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease von Williams, Katie B, Brigatti, Karlla W, Puffenberger, Erik G, Gonzaga-Jauregui, Claudia, Griffin, Laurie B, Martinez, Erick D, Wenger, Olivia K, Yoder, Mark A, Kandula, Vinay V R, Fox, Michael D, Demczko, Matthew M, Poskitt, Laura, Furuya, Katryn N, Reid, Jeffrey G, Overton, John D, Baras, Aris, Miles, Lili, Radhakrishnan, Kadakkal, Carson, Vincent J, Antonellis, Anthony, Jinks, Robert N, Strauss, Kevin A

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A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder von Puffenberger, Erik G., Jinks, Robert N., Wang, Heng, Xin, Baozhong, Fiorentini, Christopher, Sherman, Eric A., Degrazio, Dominick, Shaw, Calvin, Sougnez, Carrie, Cibulskis, Kristian, Gabriel, Stacey, Kelley, Richard I., Morton, D. Holmes, Strauss, Kevin A.

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APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain von Ferguson, Cole J., Urso, Olivia, Bodrug, Tatyana, Gassaway, Brandon M., Watson, Edmond R., Prabu, Jesuraj R., Lara-Gonzalez, Pablo, Martinez-Chacin, Raquel C., Wu, Dennis Y., Brigatti, Karlla W., Puffenberger, Erik G., Taylor, Cora M., Haas-Givler, Barbara, Jinks, Robert N., Strauss, Kevin A., Desai, Arshad, Gabel, Harrison W., Gygi, Steven P., Schulman, Brenda A., Brown, Nicholas G., Bonni, Azad

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

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Adaptive visual metamorphosis in a deep-sea hydrothermal vent crab von Jinks, Robert N., Markley, Tara L., Taylor, Elizabeth E., Perovich, Gina, Dittel, Ana I., Epifanio, Charles E., Cronin, Thomas W.

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A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans von Morlet, Thierry, Rabinowitz, Mindy R., Looney, Liesl R., Riegner, Tammy, Greenwood, L. Ashleigh, Sherman, Eric A., Achilly, Nathan, Zhu, Anni, Yoo, Estelle, O'Reilly, Robert C., Jinks, Robert N., Puffenberger, Erik G., Heaps, Adam, Morton, Holmes, Strauss, Kevin A.

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Ontogeny of Vision in Marine Crustaceans von Cronin, Thomas W., Jinks, Robert N.

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Protein kinase C-induced disorganization and endocytosis of photosensitive membrane in Limulus ventral photoreceptors von Dabdoub, Alain, Payne, Richard, Jinks, Robert N.

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

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Integrating Rare Disease Research Into An Undergraduate Liberal Arts Curriculum To Enhance The Pace Of Rare Disease Gene Discovery For Underserved Populations And Promote STEM Rete... von Jinks, Robert N, Davis, Beckley K, Roberts, David M, Rice, Elizabeth, Brigatti, Karlla W, Puffenberger, Erik G, Strauss, Kevin A

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Limulus opsins: Diurnal regulation of expression von DALAL, JASBIR S., JINKS, ROBERT N., CACCIATORE, CHELSIE, GREENBERG, ROBERT M., BATTELLE, BARBARA-ANNE

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Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. II. Octopamine acts via adenylate cyclase/cAMP-dependent protein kinase to prime the retina fo... von RUNYON, SCOTT L., WASHICOSKY, KEVIN J., BRENNEMAN, RANDALL J., KELLY, JEREMY R., KHADILKAR, RASHMI V., HEACOCK, KEVIN F., MCCORMICK, SHAELAN M., WILLIAMS, KELLY E., JINKS, ROBERT N.

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Desensitization of the photoresponse in Limulus ventral photoreceptors by protein kinase C precedes rhabdomere disorganization and endocytosis von DABDOUB, ALAIN, JINKS, ROBERT N., WANG, YOUJUN, BATTELLE, BARBARA-ANNE, PAYNE, RICHARD

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Mutations in CRADD result in reduced caspase-2-mediated neuronal apoptosis and cause megalencephaly with a rare lissencephaly variant von 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

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Central regulation of photosensitive membrane turnover in the lateral eye of Limulus. I. Octopamine primes the retina for daily transient rhabdom shedding von KHADILKAR, RASHMI V., MYTINGER, JOHN R., THOMASON, LAURA E., RUNYON, SCOTT L., WASHICOSKY, KEVIN J., JINKS, ROBERT N.

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