An unusual cause of rectal pain von Lau, Joel W. L., Chong, Deborah J. M., Leong, Eugene K. F., Oh, Han Boon

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Pathogenic Variants for Mendelian and Complex Traits in Exomes of 6,517 European and African Americans: Implications for the Return of Incidental Results von Tabor, Holly K., Auer, Paul L., Jamal, Seema M., Chong, Jessica X., Yu, Joon-Ho, Gordon, Adam S., Graubert, Timothy A., O’Donnell, Christopher J., Rich, Stephen S., Nickerson, Deborah A., Bamshad, Michael J.

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Prevalence and characteristics of progressive fibrosing interstitial lung disease in a prospective registry von Hambly, Nathan, Farooqi, M Malik, Dvorkin-Gheva, Anna, Donohoe, Kathryn, Garlick, Kristopher, Scallan, Ciaran, Chong, Sy Giin, MacIsaac, Sarah, Assayag, Deborah, Johannson, Kerri A, Fell, Charlene D, Marcoux, Veronica, Manganas, Helene, Morisset, Julie, Comes, Alessia, Fisher, Jolene H, Shapera, Shane, Gershon, Andrea S, To, Teresa, Wong, Alyson W, Sadatsafavi, Mohsen, Wilcox, Pierce G, Halayko, Andrew J, Khalil, Nasreen, Cox, Gerard, Richeldi, Luca, Ryerson, Christopher J, Kolb, Martin

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The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities von Chong, Jessica X., Buckingham, Kati J., Jhangiani, Shalini N., Boehm, Corinne, Sobreira, Nara, Smith, Joshua D., Harrell, Tanya M., McMillin, Margaret J., Wiszniewski, Wojciech, Gambin, Tomasz, Coban Akdemir, Zeynep H., Doheny, Kimberly, Scott, Alan F., Avramopoulos, Dimitri, Chakravarti, Aravinda, Hoover-Fong, Julie, Mathews, Debra, Witmer, P. Dane, Ling, Hua, Hetrick, Kurt, Watkins, Lee, Patterson, Karynne E., Reinier, Frederic, Blue, Elizabeth, Muzny, Donna, Kircher, Martin, Bilguvar, Kaya, López-Giráldez, Francesc, Sutton, V. Reid, Tabor, Holly K., Leal, Suzanne M., Gunel, Murat, Mane, Shrikant, Gibbs, Richard A., Boerwinkle, Eric, Hamosh, Ada, Shendure, Jay, Lupski, James R., Lifton, Richard P., Valle, David, Nickerson, Deborah A., Bamshad, Michael J.

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Targeted long-read sequencing identifies missing disease-causing variation von Miller, Danny E., Sulovari, Arvis, Wang, Tianyun, Loucks, Hailey, Hoekzema, Kendra, Munson, Katherine M., Lewis, Alexandra P., Fuerte, Edith P. Almanza, Paschal, Catherine R., Walsh, Tom, Thies, Jenny, Bennett, James T., Glass, Ian, Dipple, Katrina M., Patterson, Karynne, Bonkowski, Emily S., Nelson, Zoe, Squire, Audrey, Sikes, Megan, Beckman, Erika, Bennett, Robin L., Earl, Dawn, Lee, Winston, Allikmets, Rando, Perlman, Seth J., Chow, Penny, Hing, Anne V., Wenger, Tara L., Adam, Margaret P., Sun, Angela, Lam, Christina, Chang, Irene, Zou, Xue, Austin, Stephanie L., Huggins, Erin, Safi, Alexias, Iyengar, Apoorva K., Reddy, Timothy E., Majoros, William H., Allen, Andrew S., Crawford, Gregory E., Kishnani, Priya S., King, Mary-Claire, Cherry, Tim, Chong, Jessica X., Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Doherty, Dan, Eichler, Evan E.

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Endovascular Therapy for Ischemic Stroke with Perfusion-Imaging Selection von Campbell, Bruce C.V, Mitchell, Peter J, Kleinig, Timothy J, Dewey, Helen M, Churilov, Leonid, Yassi, Nawaf, Yan, Bernard, Dowling, Richard J, Parsons, Mark W, Oxley, Thomas J, Wu, Teddy Y, Brooks, Mark, Simpson, Marion A, Miteff, Ferdinand, Levi, Christopher R, Krause, Martin, Harrington, Timothy J, Faulder, Kenneth C, Steinfort, Brendan S, Priglinger, Miriam, Ang, Timothy, Scroop, Rebecca, Barber, P. Alan, McGuinness, Ben, Wijeratne, Tissa, Phan, Thanh G, Chong, Winston, Chandra, Ronil V, Bladin, Christopher F, Badve, Monica, Rice, Henry, de Villiers, Laetitia, Ma, Henry, Desmond, Patricia M, Donnan, Geoffrey A, Davis, Stephen M

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Liquids with High Compressibility von Lai, Beibei, Liu, Siyuan, Cahir, John, Sun, Yueting, Yin, Haixia, Youngs, Tristan, Tan, Jin‐Chong, Fonrouge, Sergio F., Pópolo, Mario G. Del, Borioni, José L., Crawford, Deborah E., Alexander, Francesca M., Li, Chunchun, Bell, Steven E. J., Murrer, Barry, James, Stuart L.

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Insights into genetics, human biology and disease gleaned from family based genomic studies von Posey, Jennifer E., O’Donnell-Luria, Anne H., Chong, Jessica X., Harel, Tamar, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Buyske, Steven, Pehlivan, Davut, Carvalho, Claudia M. B., Baxter, Samantha, Sobreira, Nara, Liu, Pengfei, Wu, Nan, Rosenfeld, Jill A., Kumar, Sushant, Avramopoulos, Dimitri, White, Janson J., Doheny, Kimberly F., Witmer, P. Dane, Boehm, Corinne, Sutton, V. Reid, Muzny, Donna M., Boerwinkle, Eric, Günel, Murat, Nickerson, Deborah A., Mane, Shrikant, MacArthur, Daniel G., Gibbs, Richard A., Hamosh, Ada, Lifton, Richard P., Matise, Tara C., Rehm, Heidi L., Gerstein, Mark, Bamshad, Michael J., Valle, David, Lupski, James R.

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MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder von Heimer, Gali, Kerätär, Juha M., Riley, Lisa G., Balasubramaniam, Shanti, Eyal, Eran, Pietikäinen, Laura P., Hiltunen, J. Kalervo, Marek-Yagel, Dina, Hamada, Jeffrey, Gregory, Allison, Rogers, Caleb, Hogarth, Penelope, Nance, Martha A., Shalva, Nechama, Veber, Alvit, Tzadok, Michal, Nissenkorn, Andreea, Tonduti, Davide, Renaldo, Florence, Bamshad, Michael J., Leal, Suzanne M., Nickerson, Deborah A., Anderson, Peter, Annable, Marcus, Blue, Elizabeth Marchani, Buckingham, Kati J., Chin, Jennifer, Chong, Jessica X., Cornejo, Rodolfo, Davis, Colleen P., Frazar, Christopher, He, Zongxiao, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Kolar, Tom, Krauter, Stephanie A., Luksic, Daniel, Marvin, Colby T., McGee, Sean, McGoldrick, Daniel J., Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Robertson, Peggy D., Santos-Cortez, Regie, Shankar, Aditi, Slattery, Krystal, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Tackett, Monica, Wang, Gao, Wegener, Marc, Weiss, Jeffrey M., Wernick, Riana I., Wheeler, Marsha M., Yi, Qian, Kraoua, Ichraf, Panteghini, Celeste, Valletta, Lorella, Garavaglia, Barbara, Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Silberstein, Jonathon M., Hoffmann, Chen, Raas-Rothschild, Annick, Tiranti, Valeria, Anikster, Yair, Christodoulou, John, Kastaniotis, Alexander J., Ben-Zeev, Bruria, Hayflick, Susan J.

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Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate von Cox, Liza L., Cox, Timothy C., Moreno Uribe, Lina M., Zhu, Ying, Richter, Chika T., Nidey, Nichole, Standley, Jennifer M., Deng, Mei, Blue, Elizabeth, Chong, Jessica X., Yang, Yueqin, Carstens, Russ P., Anand, Deepti, Lachke, Salil A., Smith, Joshua D., Dorschner, Michael O., Bedell, Bruce, Kirk, Edwin, Hing, Anne V., Venselaar, Hanka, Valencia-Ramirez, Luz C., Bamshad, Michael J., Glass, Ian A., Cooper, Jonathan A., Haan, Eric, Nickerson, Deborah A., van Bokhoven, Hans, Zhou, Huiqing, Krahn, Katy N., Buckley, Michael F., Murray, Jeffrey C., Lidral, Andrew C., Roscioli, Tony

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De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay von Chong, Jessica X., McMillin, Margaret J., Shively, Kathryn M., Beck, Anita E., Marvin, Colby T., Armenteros, Jose R., Buckingham, Kati J., Nkinsi, Naomi T., Boyle, Evan A., Berry, Margaret N., Bocian, Maureen, Foulds, Nicola, Uzielli, Maria Luisa Giovannucci, Haldeman-Englert, Chad, Hennekam, Raoul C.M., Kaplan, Paige, Kline, Antonie D., Mercer, Catherine L., Nowaczyk, Malgorzata J.M., Klein Wassink-Ruiter, Jolien S., McPherson, Elizabeth W., Moreno, Regina A., Scheuerle, Angela E., Shashi, Vandana, Stevens, Cathy A., Carey, John C., Monteil, Arnaud, Lory, Philippe, Tabor, Holly K., Smith, Joshua D., Shendure, Jay, Nickerson, Deborah A., Bamshad, Michael J., Shendure, Jay, Nickerson, Deborah A., Abecasis, Gonçalo R., Anderson, Peter, Blue, Elizabeth Marchani, Annable, Marcus, Browning, Brian L., Buckingham, Kati J., Chen, Christina, Chin, Jennifer, Chong, Jessica X., Cooper, Gregory M., Davis, Colleen P., Frazar, Christopher, Harrell, Tanya M., He, Zongxiao, Jain, Preti, Jarvik, Gail P., Jimenez, Guillaume, Johanson, Eric, Jun, Goo, Kircher, Martin, Kolar, Tom, Krauter, Stephanie A., Krumm, Niklas, Leal, Suzanne M., Luksic, Daniel, Marvin, Colby T., McMillin, Margaret J., McGee, Sean, O’Reilly, Patrick, Paeper, Bryan, Patterson, Karynne, Perez, Marcos, Phillips, Sam W., Pijoan, Jessica, Poel, Christa, Reinier, Frederic, Robertson, Peggy D., Santos-Cortez, Regie, Shaffer, Tristan, Shephard, Cindy, Shively, Kathryn M., Siegel, Deborah L., Smith, Joshua D., Staples, Jeffrey C., Tabor, Holly K., Tackett, Monica, Underwood, Jason G., Wegener, Marc, Wang, Gao, Wheeler, Marsha M., Yi, Qian, Bamshad, Michael J.

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Developmental Processes Associated With Longitudinal Declines in Parental Responsibility and Adherence to Type 1 Diabetes Management Across Adolescence von Wiebe, Deborah J., Chow, Chong Man, Palmer, Debra L., Butner, Jonathan, Butler, Jorie M., Osborn, Peter, Berg, Cynthia A.

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Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features von Chong, Jessica X., Yu, Joon-Ho, Lorentzen, Peter, Park, Karen M., Jamal, Seema M., Tabor, Holly K., Rauch, Anita, Saenz, Margarita Sifuentes, Boltshauser, Eugen, Patterson, Karynne E., Nickerson, Deborah A., Bamshad, Michael J.

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis von Chong, Jessica X., Talbot, Jared C., Teets, Emily M., Previs, Samantha, Martin, Brit L., Shively, Kathryn M., Marvin, Colby T., Aylsworth, Arthur S., Saadeh-Haddad, Reem, Schatz, Ulrich A., Inzana, Francesca, Ben-Omran, Tawfeg, Almusafri, Fatima, Al-Mulla, Mariam, Buckingham, Kati J., Harel, Tamar, Mor-Shaked, Hagar, Radhakrishnan, Periyasamy, Girisha, Katta M., Nayak, Shalini S., Shukla, Anju, Dieterich, Klaus, Faure, Julien, Rendu, John, Capri, Yline, Latypova, Xenia, Nickerson, Deborah A., Warshaw, David M., Janssen, Paul M.L., Amacher, Sharon L., Bamshad, Michael J.

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Heme oxygenase-1 deficiency alters erythroblastic island formation, steady-state erythropoiesis and red blood cell lifespan in mice von Fraser, Stuart T, Midwinter, Robyn G, Coupland, Lucy A, Kong, Stephanie, Berger, Birgit S, Yeo, Jia Hao, Andrade, Osvaldo Cooley, Cromer, Deborah, Suarna, Cacang, Lam, Magda, Maghzal, Ghassan J, Chong, Beng H, Parish, Christopher R, Stocker, Roland

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Integrin α2β1 Expression Regulates Matrix Metalloproteinase-1-Dependent Bronchial Epithelial Repair in Pulmonary Tuberculosis von Brilha, Sara, Chong, Deborah L W, Khawaja, Akif A, Ong, Catherine W M, Guppy, Naomi J, Porter, Joanna C, Friedland, Jon S

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ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes von Mori, Takayasu, Yousefzadeh, Matthew J., Faridounnia, Maryam, Chong, Jessica X., Hisama, Fuki M., Hudgins, Louanne, Mercado, Gabriela, Wade, Erin A., Barghouthy, Amira S., Lee, Lin, Martin, George M., Nickerson, Deborah A., Bamshad, Michael J., Niedernhofer, Laura J., Oshima, Junko

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Bioluminescent Reporting of In Vivo IFN-γ Immune Responses during Infection and Autoimmunity von Reynolds, Catherine J, Chong, Deborah L W, Li, Yihan, Black, S Lucas, Cutler, Amy, Webster, Zoe, Manji, Jiten, Altmann, Daniel M, Boyton, Rosemary J

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Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes von Grochowski, Christopher M., Gu, Shen, Yuan, Bo, TCW, Julia, Brennand, Kristen J., Sebat, Jonathan, Malhotra, Dheeraj, McCarthy, Shane, Rudolph, Uwe, Lindstrand, Anna, Chong, Zechen, Levy, Deborah L., Lupski, James R., Carvalho, Claudia M.B.

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Age and Growth of An Outbreaking Acanthaster cf. solaris Population within the Great Barrier Reef von MacNeil, M., Chong-Seng, Karen, Pratchett, Deborah, Thompson, Casssandra, Messmer, Vanessa, Pratchett, Morgan

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