Pulmonary Dysfunction in Adults With Nephropathic Cystinosis von Anikster, Yair, Lacbawan, Felicitas, Brantly, Mark, Gochuico, Bernadette L., Avila, Nilo A., Travis, William, Gahl, William A.

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Clinical management and outcomes of patients with Hermansky-Pudlak syndrome pulmonary fibrosis evaluated for lung transplantation von El-Chemaly, Souheil, O'Brien, Kevin J, Nathan, Steven D, Weinhouse, Gerald L, Goldberg, Hilary J, Connors, Jean M, Cui, Ye, Astor, Todd L, Camp, Jr, Philip C, Rosas, Ivan O, Lemma, Merte, Speransky, Vladislav, Merideth, Melissa A, Gahl, William A, Gochuico, Bernadette R

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Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease von Zhou, Yang, He, Chuan Hua, Herzog, Erica L, Peng, Xueyan, Lee, Chang-Min, Nguyen, Tung H, Gulati, Mridu, Gochuico, Bernadette R, Gahl, William A, Slade, Martin L, Lee, Chun Geun, Elias, Jack A

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High attenuation areas on chest computed tomography in community-dwelling adults: the MESA study von Podolanczuk, Anna J, Oelsner, Elizabeth C, Barr, R Graham, Hoffman, Eric A, Armstrong, Hilary F, Austin, John H M, Basner, Robert C, Bartels, Matthew N, Christie, Jason D, Enright, Paul L, Gochuico, Bernadette R, Hinckley Stukovsky, Karen, Kaufman, Joel D, Hrudaya Nath, P, Newell, Jr, John D, Palmer, Scott M, Rabinowitz, Dan, Raghu, Ganesh, Sell, Jessica L, Sieren, Jered, Sonavane, Sushil K, Tracy, Russell P, Watts, Jubal R, Williams, Kayleen, Kawut, Steven M, Lederer, David J

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Prolonged treatment with open-label pirfenidone in Hermansky-Pudlak syndrome pulmonary fibrosis von O'Brien, Kevin J., Introne, Wendy J., Akal, Orhan, Akal, Tulay, Barbu, Adrian, McGowan, Melissa P., Merideth, Melissa A., Seward, Samuel L., Gahl, William A., Gochuico, Bernadette R.

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Genetic and hypoxic alterations of the microRNA‐210‐ISCU1/2 axis promote iron–sulfur deficiency and pulmonary hypertension von White, Kevin, Lu, Yu, Annis, Sofia, Hale, Andrew E, Chau, B Nelson, Dahlman, James E, Hemann, Craig, Opotowsky, Alexander R, Vargas, Sara O, Rosas, Ivan, Perrella, Mark A, Osorio, Juan C, Haley, Kathleen J, Graham, Brian B, Kumar, Rahul, Saggar, Rajan, Saggar, Rajeev, Wallace, W Dean, Ross, David J, Khan, Omar F, Bader, Andrew, Gochuico, Bernadette R, Matar, Majed, Polach, Kevin, Johannessen, Nicolai M, Prosser, Haydn M, Anderson, Daniel G, Langer, Robert, Zweier, Jay L, Bindoff, Laurence A, Systrom, David, Waxman, Aaron B, Jin, Richard C, Chan, Stephen Y

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ADP-ribosylation of human defensin HNP-1 results in the replacement of the modified arginine with the noncoded amino acid ornithine von Stevens, Linda A, Levine, Rodney L, Gochuico, Bernadette R, Moss, Joel

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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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Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1 von Rouhani, Farshid N, Brantly, Mark L, Markello, Thomas C, Helip-Wooley, Amanda, O'Brien, Kevin, Hess, Richard, Huizing, Marjan, Gahl, William A, Gochuico, Bernadette R

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision von Baldridge, Dustin, Wangler, Michael F., Bowman, Angela N., Yamamoto, Shinya, Schedl, Tim, Pak, Stephen C., Postlethwait, John H., Shin, Jimann, Solnica-Krezel, Lilianna, Bellen, Hugo J., Westerfield, Monte

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder von Tepe, Burak, Cogne, Benjamin, Neil, Jennifer E., Walsh, Christopher A., Magal, Nurit, Drasinover, Valerie, Schwab, Tanya, Schmitz, Chris, Clark, Karl, Blanc, Pierre, Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bayrak-Toydemir, Pinar, Beck, Anita, Behrens, Edward, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Byers, Peter, Byrd, William E., Carey, John, Clark, Gary D., Coakley, Terra R., Colley, Heather A., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Deardorff, Matthew, Dipple, Katrina, Doherty, Daniel, Doss, Argenia L., Emrick, Lisa T., Fernandez, Liliana, Forghani, Irman, Glass, Ian, Gochuico, Bernadette, Golden-Grant, Katie, Goldrich, Madison P., Gutierrez, Irma, Hamid, Rizwan, Hayes, Nichole, Hom, Jason, Horike-Pyne, Martha, Isasi, Rosario, Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kobren, Shilpa N., Krasnewich, Donna M., LeBlanc, Kimberly, Levitt, Roy, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Merritt, J. Lawrence, Morava, Eva, Newman, John H., Nickerson, Deborah, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Palmer, Christina GS, Papp, Jeanette C., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rosenfeld, Jill A., Rossignol, Francis, Ruzhnikov, Maura, Scott, C. Ron, Shin, Jimann, Sinsheimer, Janet S., Sullivan, Jennifer A., Sun, Angela, Tabor, Holly K., Telischi, Fred, Toro, Camilo, Tucker, Brianna M., Urv, Tiina K., Vogel, Tiphanie P., Walker, Melissa, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Zuchner, Stephan

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A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 von Michener, Sydney L., Chan, Hiuling, Rosenfeld, Jill A., Bekheirnia, Mir Reza, Wagner, Matias, Engels, Hartmut, Guillen Sacoto, Maria J., McDonnell, Pamela P., Pastinen, Tomi, Zhou, Dihong, Bolton, Jeffrey, Julia Suh, Dong Sun, Toosi, Mehran Beiraghi, Maroofian, Reza, Schaefer, Gerald Bradley, Russ-Hall, Sophie, Carvill, Gemma L., Mefford, Heather, Acosta, Maria T., Adams, David R., Amendola, Laura, Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Bican, Anna, Blue, Elizabeth, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brown, Gabrielle, Carey, John, Crouse, Andrew B., Dipple, Katrina, Doss, Argenia L., Douine, Emilie D., Eckstein, David J., Fieg, Elizabeth L., Forghani, Irman, Godfrey, Rena A., Grajewski, Alana, Hahn, Sihoun, Hisama, Fuki M., Hutchison, Sarah, Introne, Wendy, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., LeBlanc, Kimberly, Levitt, Roy, Lewis, Richard A., Loo, Sandra K., Mahoney, Rachel, Mao, Rong, Maravilla, Kenneth, Marwaha, Shruti, McCray, Alexa T., Mefford, Heather, Merritt, J. Lawrence, Morava, Eva, Nakano-Okuno, Mariko, Nelson, Stanley F., Phillips III, John A., Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Saporta, Mario, Seto, Elaine, Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Telischi, Fred, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vogel, Tiphanie P., Wallace, Stephanie, Wambach, Jennifer, Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John, Chao, Hsiao-Tuan

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Macrocephaly and developmental delay caused by missense variants in RAB5C von Koop, Klaas, Yuan, Weimin, Tessadori, Federico, Rodriguez-Polanco, Wilmer R, Grubbs, Jeremy, Zhang, Bo, Osmond, Matt, Graham, Gail, Sawyer, Sarah, Conboy, Erin, Vetrini, Francesco, Treat, Kayla, Płoski, Rafal, Pienkowski, Victor Murcia, Kłosowska, Anna, Fieg, Elizabeth, Krier, Joel, Mallebranche, Coralie, Alban, Ziegler, Aldinger, Kimberly A, Ritter, Deborah, Macnamara, Ellen, Sullivan, Bonnie, Herriges, John, Alaimo, Joseph T, Helbig, Catherine, Ellis, Colin A, van Eyk, Clare, Gecz, Jozef, Farrugia, Daniel, Osei-Owusu, Ikeoluwa, Adès, Lesley, van den Boogaard, Marie-Jose, Fuchs, Sabine, Bakker, Jeroen, Duran, Karen, Dawson, Zachary D, Lindsey, Anika, Huang, Huiyan, Baldridge, Dustin, Silverman, Gary A, Grant, Barth D, Raizen, David, van Haaften, Gijs, Pak, Stephen C, Rehmann, Holger, Schedl, Tim, van Hasselt, Peter

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ADP-ribosyltransferase-specific Modification of Human Neutrophil Peptide-1 von Paone, Gregorino, Stevens, Linda A., Levine, Rodney L., Bourgeois, Christelle, Steagall, Wendy K., Gochuico, Bernadette R., Moss, Joel

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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome von Bainbridge, Matthew N, Mazumder, Aloran, Ogasawara, Daisuke, Abou Jamra, Rami, Bernard, Geneviève, Bertini, Enrico, Burglen, Lydie, Cope, Heidi, Crawford, Ali, Derksen, Alexa, Dure, Leon, Gantz, Emily, Koch-Hogrebe, Margarete, Hurst, Anna C E, Mahida, Sonal, Marshall, Paige, Micalizzi, Alessia, Novelli, Antonio, Peng, Hongfan, Rodriguez, Diana, Robbins, Shira L, Rutledge, S Lane, Scalise, Roberta, Schließke, Sophia, Shashi, Vandana, Srivastava, Siddharth, Thiffault, Isabella, Topol, Sarah, Qebibo, Leila, Wieczorek, Dagmar, Cravatt, Benjamin, Haricharan, Svasti, Torkamani, Ali, Friedman, Jennifer

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De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling von Morleo, Manuela, Briere, Lauren C., Rosello, Marion, Tirozzi, Alfonsina, Tammaro, Roberta, High, Frances A., Adams, David R., Alvey, Justin, Bale, Jim, Bayrak-Toydemir, Pinar, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bonner, Devon, Butte, Manish J., Byrd, William E., Cassini, Thomas, Coakley, Terra R., Cobban, Laurel A., Cole, F. Sessions, Colley, Heather A., Dai, Hongzheng, Davis, Joie, Douine, Emilie D., Eckstein, David J., Emrick, Lisa T., Hadley, Don, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, Horike-Pyne, Martha, Huang, Alden, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jobanputra, Vaidehi, Karaviti, Lefkothea, Korrick, Susan, Krasnewich, Donna M., Lam, Byron, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marwaha, Shruti, Mirzaa, Ghayda, Morava, Eva, Nakano-Okuno, Mariko, Nicholas, Sarah K., Pallais, J. Carl, Raskind, Wendy, Rosenwasser, Natalie, Sampson, Jacinda B., Schedl, Timothy, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Torella, Annalaura, Morleo, Manuela, Spampanato, Carmine, Pinelli, Michele, Massimello, Marta, Leuzzi, Vincenzo, Romano, Corrado, Amenta, Simona, Grandone, Anna, Marini, Carla, Bigoni, Stefania, Trabacca, Antonio, De Rinaldis, Marta, Ferrante, Luigi, Torella, Annalaura, Tenconi, Romano, van Gassen, Koen L.I., Attie-Bitach, Tania, Zollino, Marcella, Sweetser, David A.

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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder von Ugur, Berrak, Zhang, Bo, Feng, Wenjia, Goddard, Pagé, Kravets, Elijah, Marwaha, Shruti, Adams, David R., Andrews, Ashley, Behrens, Edward, Berg-Rood, Beverly, Berry, Gerard T., Bohnsack, John, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Carrasquillo, Olveen, Chanprasert, Sirisak, Chinn, Ivan, Coggins, Matthew, Sessions Cole, F., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Earl, Dawn, Ezell, Kimberly, Fisher, Paul G., Gahl, William A., Glass, Ian, Goddard, Page C., Halley, Meghan C., High, Frances, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Kozuira, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Maas, Richard L., Manolio, Teri A., Mao, Rong, Marom, Ronit, Martin, Beth A., Marwaha, Shruti, McCauley, Jacob, McCray, Alexa T., Mefford, Heather, Morava, Eva, Moretti, Paolo, Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Nickerson, Deborah, Palmer, Christina G.S., Parker, Neil H., Phillips, John A., Pusey Swerdzewski, Barbara N., Renteria, Genecee, Rosenfeld, Jill A., Sacco, Ralph, Schoch, Kelly, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sweetser, David A., Tran, Alyssa A., Velinder, Matt, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Worley, Kim, Xiao, Changrui, Yang, John, Zuchner, Stephan, Worthey, Elizabeth A., Postlethwait, John, Solnica-Krezel, Lila

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Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care von Maghiro, AudreyStephannie, Tabor, Holly K., Acosta, Maria T., Amendola, Laura, Andrews, Ashley, Balasubramanyam, Ashok, Baldridge, Dustin, Bennett, Jimmy, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Boyd, Brenna, Burke, Elizabeth A., Byers, Peter, Peter Chang, Ta Chen, Chanprasert, Sirisak, Clark, Gary D., Cobban, Laurel A., Cogan, Joy D., Sessions Cole, F., Colley, Heather A., Cope, Heidi, D'Souza, Precilla, Dasari, Surendra, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Holm, Ingrid A., Hom, Jason, Introne, Wendy, Izumi, Kosuke, Jayadev, Suman, Kiley, Dana, Kobren, Shilpa N., Korrick, Susan, Krasnewich, Donna M., Lam, Christina, Lanza, Ian R., Lee, Brendan H., Loo, Sandra K., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Marth, Gabor, McConkie-Rosell, Allyn, Mefford, Heather, Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Pace, Laura, Posey, Jennifer E., Potocki, Lorraine, Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Robertson, Amy K., Rossignol, Francis, Ruzhnikov, Maura, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Sisco, Kathy, Smith, Edward C., Solomon, Ben, Sullivan, Jennifer A., Sybert, Virginia, Tan, Amelia L.M., Tekin, Mustafa, Telischi, Fred, Toro, Camilo, Ungar, Rachel A., Vanderver, Adeline, Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Worley, Kim, Xiao, Changrui, Yang, John

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Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism von O'Brien, Kevin J., Lozier, Jay, Cullinane, Andrew R., Osorio, Brigitte, Nghiem, Khanh, Speransky, Vladislav, Zein, Wadih M., Mullikin, James C., Neff, Anne T., Simon, Karen L., Malicdan, May Christine V., Gahl, William A., Young, Lisa R., Gochuico, Bernadette R.

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LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variants von Lu, Jinfeng, Toro, Camilo, Adams, David R, Moreno, Cristiane Araujo Martins, Lee, Wan-Ping, Leung, Yuk Yee, Harms, Mathew B, Vardarajan, Badri, Heinzen, Erin L

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