Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria von Dixon-Salazar, Tracy, Silhavy, Jennifer L., Marsh, Sarah E., Louie, Carrie M., Scott, Lesley C., Gururaj, Aithala, Al-Gazali, Lihadh, Al-Tawari, Asma A., Kayserili, Hulya, Sztriha, László, Gleeson, Joseph G.

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The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families von Zaki, M S, Abdel-Aleem, A, Abdel-Salam, G, Marsh, S E, Silhavy, J L, Barkovich, A J, Ross, M E, Saleem, S N, Dobyns, W B, Gleeson, J G

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Genomic correlates of response and resistance to the irreversible FGFR1-4 inhibitor futibatinib based on biopsy and circulating tumor DNA profiling von Goyal, L., DiToro, D., Hollebecque, A., Bridgewater, J.A., Shimura, M., Kano, A., Okamura, S., Silhavy, J.L., Wacheck, V., Halim, A., Meric-Bernstam, F.

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RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders von Brancati, F, Travaglini, L, Zablocka, D, Boltshauser, E, Accorsi, P, Montagna, G, Silhavy, JL, Barrano, G, Bertini, E, Emma, F, Rigoli, L, Dallapiccola, B, Gleeson, JG, Valente, EM

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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome von Cantagrel, Vincent, Silhavy, Jennifer L., Bielas, Stephanie L., Swistun, Dominika, Marsh, Sarah E., Bertrand, Julien Y., Audollent, Sophie, Attié-Bitach, Tania, Holden, Kenton R., Dobyns, William B., Traver, David, Al-Gazali, Lihadh, Ali, Bassam R., Lindner, Tom H., Caspary, Tamara, Otto, Edgar A., Hildebrandt, Friedhelm, Glass, Ian A., Logan, Clare V., Johnson, Colin A., Bennett, Christopher, Brancati, Francesco, Valente, Enza Maria, Woods, C. Geoffrey, Gleeson, Joseph G.

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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders von Valente, Enza Maria, Brancati, Francesco, Silhavy, Jennifer L., Castori, Marco, Marsh, Sarah E., Barrano, Giuseppe, Bertini, Enrico, Boltshauser, Eugen, Zaki, Maha S., Abdel-Aleem, Alice, Abdel-Salam, Ghada M. H., Bellacchio, Emanuele, Battini, Roberta, Cruse, Robert P., Dobyns, William B., Krishnamoorthy, Kalpathy S., Lagier-Tourenne, Clotilde, Magee, Alex, Pascual-Castroviejo, Ignacio, Salpietro, Carmelo D., Sarco, Dean, Dallapiccola, Bruno, Gleeson, Joseph G.

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Complete Genomic Sequence of Bacteriophage B3, a Mu-Like Phage of Pseudomonas aeruginosa von BRAID, Michael D, SILHAVY, Jennifer L, KITTS, Christopher L, CANO, Raul J, HOWE, Martha M

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Mutations in the inositol polyphosphate-5-phosphatase E gene link phosphatidyl inositol signaling to the ciliopathies von Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, O., Kayserili, H., Swistun, D., Scott, L. C., Bertini, E., Boltshauser, E., Fazzi, Elisa, Travaglini, L., Field, S. J., Gayral, S., Jacoby, M., Schurmans, Stéphane, Dallapiccola, B., Majerus, P. W., Valente, E. M., Gleeson, J. G.

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Nature Genetics von Bielas, S. L, Silhavy, J. L, Brancati, F, Kisseleva, M. V, Al-Gazali, L, Sztriha, L, Bayoumi, R. A, Zaki, M. S, Abdel-Aleem, A, Rosti, O, Kayserili, H, Swistun, D, Scott, L. C, Bertini, E, Boltshauser, E, Fazzi, E, Travaglini, L, Field, S. J, Gayral, S, Jacoby, M, Schurmans, Stéphane, Dallapiccola, B, Majerus, P. W, Valente, E. M, Gleeson, J. G

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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies von Bielas, S L, Silhavy, J L, Brancati, F, Kisseleva, M V, Al-Gazali, L, Sztriha, L, Bayoumi, R A, Zaki, M S, Abdel-Aleem, A, Rosti, R O, Kayserili, H, Swistun, D, Scott, L C, Bertini, E, Boltshauser, E, Fazzi, E, Travaglini, L, Field, S J, Gayral, S, Jacoby, M, Schurmans, S, Dallapiccola, B, Majerus, P W, Valente, E M, Gleeson, J G

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes von Valente, E M, Logan, C V, Mougou-Zerelli, S, Lee, J H, Silhavy, J L, Brancati, F, Iannicelli, M, Travaglini, L, Romani, S, Illi, B, Adams, M, Szymanska, K, Mazzotta, A, Lee, J E, Tolentino, J C, Swistun, D, Salpietro, C D, Fede, C, Gabriel, S, Russ, C, Cibulskis, K, Sougnez, C, Hildebrandt, F, Otto, E A, Held, S, Diplas, B H, Davis, E E, Mikula, M, Strom, C M, Ben-Zeev, B, Lev, D, Sagie, T L, Michelson, M, Yaron, Y, Krause, A, Boltshauser, E, Elkhartoufi, N, Roume, J, Shalev, S, Munnich, A, Saunier, S, Inglehearn, C, Saad, A, Alkindy, A, Thomas, S, Vekemans, M, Dallapiccola, B, Katsanis, N, Johnson, C A, Attié-Bitach, T, Gleeson, J G

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A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families von Zaki, MS, Abdel-Aleem, A, Abdel-Salam, G, Marsh, SE, Silhavy, J L, Barkovich, A J, Ross, ME, Saleem, S N, Dobyns, W B, Gleeson, J G

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Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome von Roosing, S, Hofree, M, Kim, S, Scott, E, Copeland, B, Romani, M, Silhavy, JL, Rosti, RO, Schroth, J, Mazza, T, Miccinilli, E, Zaki, MS, Swoboda, KJ, Milisa-Drautz, J, Dobyns, WB, Mikati, M, İncecik, F, Azam, M, Borgatti, R, Romaniello, R, Boustany, RM, Clericuzio, CL, D Arrigo, S, Strømme, P, Boltshauser, E, Stanzial, F, Mirabelli-Badenier, M, Moroni, I, Bertini, E, Emma, F, Steinlin, M, Hildebrandt, F, Johnson, CA, Freilinger, M, Vaux, KK, Gabriel, SB, Aza-Blac, P, Heynen, SG, Ideker, T, Dynlacht, BD, Lee, JE, Valente, EM, Kim, J, Gleeson, JG

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Structure-Function Characterization of the Conserved Regulatory Mechanism of the Escherichia coli M48 Metalloprotease BepA von Bryant, Jack A, Cadby, Ian T, Chong, Zhi-Soon, Boelter, Gabriela, Sevastsyanovich, Yanina R, Morris, Faye C, Cunningham, Adam F, Kritikos, George, Meek, Richard W, Banzhaf, Manuel, Chng, Shu-Sin, Lovering, Andrew L, Henderson, Ian R

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β-Barrel Membrane Protein Assembly by the Bam Complex von Hagan, Christine L, Silhavy, Thomas J, Kahne, Daniel

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Disruption of lipid homeostasis in the Gram-negative cell envelope activates a novel cell death pathway von Sutterlin, Holly A., Shi, Handuo, May, Kerrie L., Miguel, Amanda, Khare, Somya, Huang, Kerwyn Casey, Silhavy, Thomas J.

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De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly von Lee, Jeong Ho, Huynh, My, Silhavy, Jennifer L, Kim, Sangwoo, Dixon-Salazar, Tracy, Heiberg, Andrew, Scott, Eric, Bafna, Vineet, Hill, Kiley J, Collazo, Adrienne, Funari, Vincent, Russ, Carsten, Gabriel, Stacey B, Mathern, Gary W, Gleeson, Joseph G

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Border Control: Regulating LPS Biogenesis von Guest, Randi L., Rutherford, Steven T., Silhavy, Thomas J.

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PERIPLASMIC STRESS AND ECF SIGMA FACTORS von Raivio, Tracy L, Silhavy, Thomas J

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A periplasmic phospholipase that maintains outer membrane lipid asymmetry in Pseudomonas aeruginosa von Guest, Randi L, Lee, Michael J, Wang, Wei, Silhavy, Thomas J

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