Identification of regulators of poly-ADP-ribose polymerase inhibitor response through complementary CRISPR knockout and activation screens von Clements, Kristen E., Schleicher, Emily M., Thakar, Tanay, Hale, Anastasia, Dhoonmoon, Ashna, Tolman, Nathanial J., Sharma, Anchal, Liang, Xinwen, Imamura Kawasawa, Yuka, Nicolae, Claudia M., Wang, Hong-Gang, De, Subhajyoti, Moldovan, George-Lucian

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Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS von Bryan, Melanie M., Tolman, Nathanial J., Simon, Karen L., Huizing, Marjan, Hufnagel, Robert B., Brooks, Brian P., Speransky, Vladislav, Mullikin, James C., Gahl, William A., Malicdan, May Christine V., Gochuico, Bernadette R.

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Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome von Abudi-Sinreich, Shachar, Bodine, Steven P, Yokoyama, Tadafumi, Tolman, Nathanial J, Tyrlik, Michal, Testa, Lauren C, Han, Chen G, Dorward, Heidi M, Wincovitch, Stephen M, Anikster, Yair, Gahl, William A, Cinar, Resat, Gochuico, Bernadette R, Malicdan, May Christine V

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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 von Stephen, Joshi, Yokoyama, Tadafumi, Tolman, Nathanial J, O'Brien, Kevin J, Nicoli, Elena-Raluca, Brooks, Brian P, Huryn, Laryssa, Titus, Steven A, Adams, David R, Chen, Dong, Gahl, William A, Gochuico, Bernadette R, Malicdan, May Christine V

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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism von Stephen, Joshi, Maddirevula, Sateesh, Nampoothiri, Sheela, Burke, John D., Herzog, Matthew, Shukla, Anju, Steindl, Katharina, Eskin, Ascia, Patil, Siddaramappa J., Joset, Pascal, Lee, Hane, Garrett, Lisa. J., Yokoyama, Tadafumi, Balanda, Nicholas, Bodine, Steven P., Tolman, Nathanial J., Zerfas, Patricia M., Zheng, Allison, Ramantani, Georgia, Girisha, Katta M., Rivas, Cecilia, Suresh, Pujar V., Elkahloun, Abdel, Alsaif, Hessa S., Wakil, Salma M., Mahmoud, Laila, Ali, Rehab, Prochazkova, Michaela, Kulkarni, Ashok B., Ben-Omran, Tawfeg, Colak, Dilek, Morris, H. Douglas, Rauch, Anita, Martinez-Agosto, Julian A., Nelson, Stanley F., Alkuraya, Fowzan S., Gahl, William A., Malicdan, May Christine V.

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Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy von Stephen, Joshi, Nampoothiri, Sheela, Banerjee, Aditi, Tolman, Nathanial J., Penninger, Josef Martin, Elling, Ullrich, Agu, Chukwuma A., Burke, John D., Devadathan, Kalpana, Kannan, Rajesh, Huang, Yan, Steinbach, Peter J., Martinis, Susan A., Gahl, William A., Malicdan, May Christine V.

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Abstract A39: Understanding poly-ADP-ribose polymerase (PARP) inhibitor resistance in BRCA2-deficient cells through dual CRISPR knockout and activation screens von Clements, Kristen E., Hale, Anastasia, Tolman, Nathanial J., Moldovan, George-Lucian

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Central nervous system involvement of anaplasmosi s von Mullholand, Jon Brandon, Tolman, Nathanial, De Obaldia, Anna, Hennrikus, Eileen

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In Vivo Evolution of a Klebsiella pneumoniae Capsule Defect With wcaJ Mutation Promotes Complement-Mediated Opsonophagocytosis During Recurrent Infection von Bain, William, Ahn, Brian, Peñaloza, Hernán F, McElheny, Christi L, Tolman, Nathanial, van der Geest, Rick, Gonzalez-Ferrer, Shekina, Chen, Nathalie, An, Xiaojing, Hosuru, Ria, Tabary, Mohammadreza, Papke, Erin, Kohli, Naina, Farooq, Nauman, Bachman, William, Olonisakin, Tolani F, Xiong, Zeyu, Griffith, Marissa P, Sullivan, Mara, Franks, Jonathan, Mustapha, Mustapha M, Iovleva, Alina, Suber, Tomeka, Shanks, Robert Q, Ferreira, Viviana P, Stolz, Donna B, Van Tyne, Daria, Doi, Yohei, Lee, Janet S

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In vivo evolution of a Klebsiella pneumoniae capsule defect with wcaJ mutation promotes complement-mediated opsono-phagocytosis during recurrent infection von Bain, William, Ahn, Brian, Peñaloza, Hernán F, McElheny, Christi L, Tolman, Nathanial, van der Geest, Rick, Gonzalez-Ferrer, Shekina, Chen, Nathalie, An, Xiaojing, Hosuru, Ria, Tabary, Mohammadreza, Papke, Erin, Kohli, Naina, Farooq, Nauman, Bachman, William, Olonisakin, Tolani F, Xiong, Zeyu, Griffith, Marissa P, Sullivan, Mara, Franks, Jonathan, Mustapha, Mustapha M, Iovleva, Alina, Suber, Tomeka, Shanks, Robert Q, Ferreira, Viviana P, Stolz, Donna B, Van Tyne, Daria, Doi, Yohei, Lee, Janet S

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Central nervous system involvement of anaplasmosis von Jon Brandon Mullholand, Tolman, Nathanial, De Obaldia, Anna, Hennrikus, Eileen

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Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice‐site and Charcot‐Marie‐Tooth phenotype with early onset symptoms von Cassini, Thomas A., Rives, Lynette C., Newman, John H., Koziura, Mary E., Hamid, Rizwan, Adams, Christopher, Adams, David, Alejandro, Mercedes, Allard, Patrick, Ashley, Euan, Bacino, Carlos, Balasubramanyam, Ashok, Barseghyan, Hayk, Bellen, Hugo, Boone, Braden, Bostwick, Bret, Briere, Lauren, Burke, Elizabeth, Burrage, Lindsay, Chao, Katherine, Clark, Gary, Dhar, Shweta, Donnell‐Fink, Laurel, Eckstein, David, Frisby, Trevor, Gartner, Valerie, Godfrey, Rena, Goheen, Mitchell, Golas, Gretchen, Goldstein, David, Gordon, Mary, Gould, Sarah, Gourdine, Jean‐Philippe, Hanchard, Neil, Handley, Lori, Herzog, Matthew, Holm, Ingrid, Howerton, Ellen, Jacob, Howard, Jain, Mahim, Jiang, Yong‐hui, Johnston, Jean, Jones, Angela, Koehler, Alanna, Kohler, Jennefer, Krier, Joel, Lalani, Seema, Latour, Yvonne, Lee, Brendan, Lee, Hane, Lee, Paul, Levy, Shawn, Lewis, Richard, Lincoln, Sharyn, Loscalzo, Joseph, Maas, Richard, MacRae, Calum, Malicdan, May Christine, Mamounas, Laura, McCarty, Alexandra, McCray, Alexa, Might, Matthew, Mulvihill, John, Murphy, Jennifer, Muzny, Donna, Nehrebecky, Michele, Nelson, Stan, Novacic, Donna, Carl Pallais, J, Posey, Jennifer, Potocki, Lorraine, Ramoni, Rachel, Rodan, Lance, Rosenfeld, Jill, Samson, Susan, Schaffer, Katherine, Sharma, Prashant, Shashi, Vandana, Silverman, Edwin, Soldatos, Ariane, Spillmann, Rebecca, Splinter, Kimberly, Stoler, Joan, Stong, Nicholas, Strong, Kimberly, Sullivan, Jennifer, Tifft, Cynthia, Vilain, Eric, Vogel, Tiphanie, Waggott, Daryl, Wahl, Colleen, Waters, Katrina, Webb‐Robertson, Bobbie‐Jo, Westerfield, Monte, Wheeler, Matthew, Wise, Anastasia, Wolfe, Lynne, Worthey, Elizabeth, Yamamoto, Shinya, Yang, Yaping

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Additional file 1 of Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome von Abudi-Sinreich, Shachar, Bodine, Steven P., Yokoyama, Tadafumi, Tolman, Nathanial J., Tyrlik, Michal, Testa, Lauren C., Han, Chen G., Dorward, Heidi M., Wincovitch, Stephen M., Anikster, Yair, Gahl, William A., Cinar, Resat, Gochuico, Bernadette R., Malicdan, May Christine V.

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