Lane line tensioning apparatus von Vallo, Nick, Underwood, Bradford J, Diwik, Jason C, Ragias, Christos, Gould, Bret A

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LANE LINE TENSIONING APPARATUS von Vallo, Nick, Underwood, Bradford J, Diwik, Jason C, Ragias, Christos, Gould, Bret A

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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts von Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.

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Indomethacin with or without prophylactic pancreatic stent placement to prevent pancreatitis after ERCP: a randomised non-inferiority trial von Elmunzer, B Joseph, Foster, Lydia D, Serrano, Jose, Coté, Gregory A, Shah, Raj, Bang, Ji Young, Kwon, Richard S, Scheiman, James M, Willingham, Field F, Keilin, Steven A, Papachristou, Georgios I, Chak, Amitabh, Slivka, Adam, Mullady, Daniel, Kushnir, Vladimir, Buxbaum, James, Keswani, Rajesh, Forbes, Nauzer, Rastogi, Amit, Ross, Andrew, Law, Joanna, Barkun, Alan, Smith, Zachary L, Petersen, Bret, Wang, Andrew Y, Saltzman, John R, Spitzer, Rebecca L, Ordiah, Collins, Durkalski-Mauldin, Valerie, Elmunzer, B. Joseph, Foster, Lydia D., Coté, Gregory A., Edmundowicz, Steven A., Wani, Sachin, Shah, Raj, Bang, Ji Young, Singh, Vikesh K., Kwon, Richard S., Scheiman, James M., Willingham, Field F., Keilin, Steven A., Papachristou, Georgios I., Chak, Amitabh, Mullady, Daniel, Kushnir, Vladimir, Buxbaum, James, Keswani, Rajesh, Gardner, Timothy B., Forbes, Nauzer, Rastogi, Amit, Ross, Andrew, Law, Joanna, Yachimski, Patrick, Chen, Yen-I, Barkun, Alan, Smith, Zachary L., Petersen, Bret, Wang, Andrew Y., Saltzman, John R., Spitzer, Rebecca L., Ordiah, Collins, Spino, Cathie, Higgins, Peter D.R., Forster, Erin, Brauer, Brian, Wamsteker, Erik J., Cai, Qiang, Qayed, Emad, Groce, Royce, Krishna, Somashekar G., Glessing, Brooke, Rabinovitz, Mordechai, Lang, Gabriel, Aadam, Aziz, Komanduri, Srinadh, Adler, Jefferey, Gordon, Stuart, Mohamed, Rachid, Olyaee, Mojtaba, Depue Brewbaker, Emily K., Gould, Mariana, Olsen, Jama, Simon, Violette C., Kamal, Ayesha, Volk, Sarah L., Merchant, Ambreen A., Lahooti, Ali, Anderson, Gulsum, Hollander, Thomas, Vazquez, Alejandro, Li, Thomas Y., Hadley, Steven M., Chau, Millie, Mendoza, Robinson, Tangwongchai, Tida, Koza, Casey L., Geraci, Olivia, Nunez, Lizbeth, Waters, Alexander M., Durkalski-Mauldin, Valerie

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IRF2BPL Is Associated with Neurological Phenotypes von Marcogliese, Paul C., Rosenfeld, Jill A., Koenig, Mary Kay, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Salamon, Noriko, Infante, Elena, Poppe, Bruce, Chung, Hyung-Lok, Zuo, Zhongyuan, Kanca, Oguz, Xia, Fan, Smith, Edward C., Jasien, Joan, Kansagra, Sujay, Lark, Robert, Riley, Kacie, Golden-Grant, Katie, Poppe, Bruce, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Schoch, Kelly, Shashi, Vandana, Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yu, Guoyun, Zheng, Allison, Yamamoto, Shinya, Wangler, Michael F., Lee, Brendan, Nelson, Stanley F., Goldstein, David B., Bellen, Hugo J.

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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay von Sullivan, Jennifer A., Shashi, Vandana, Jiang, Yong-hui, Stong, Nicholas, Fiala, Elise, Willing, Marcia, Pfundt, Rolph, Kleefstra, Tjitske, Orellana, Carmen, Monfort, Sandra, Roscioli, Tony, Jones, Wendy D., Sebastian, Jessica, Sonal, Desai, Sakkubai, Naidu, Faivre, Laurence, Krantz, Ian D., Adams, David R., Alejandro, Mercedes E., Azamian, Mahshid S., Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Chen, Shan, Coakley, Terra R., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dillon, Ani, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Eskin, Ascia, Friedman, Noah D., Glanton, Emily, Godfrey, Rena A., Gould, Sarah E., Gropman, Andrea L., Hom, Jason, Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Kohane, Isaac S., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Lee, Hane, Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Pallais, J. Carl, Pena, Loren D.M., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Rosenfeld, Jill A., Sharma, Prashant, Shashi, Vandana, Signer, Rebecca, Sinsheimer, Janet S., Spillmann, Rebecca C., Splinter, Kimberly, Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tran, Alyssa A., Valivullah, Zaheer M., Wahl, Colleen E., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Worthey, Elizabeth A., Yang, Yaping, Zastrow, Diane B., Campeau, Philippe M.

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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region von Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.

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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative von Schoch, Kelly, Spillmann, Rebecca, Tan, Queenie K.-G., McConkie-Rosell, Allyn, Jiang, Yong-Hui, Goldstein, David B., Adams, David R., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Beggs, Alan H., Birch, Camille L., Bonner, Devon, Boone, Braden E., Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Davidson, Jean M., Dayal, Jyoti G., Dell’Angelica, Esteban C., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Friedman, Noah D., Gahl, William A., Goldstein, David B., Gourdine, Jean-Philippe F., Haendel, Melissa, Handley, Lori H., Krasnewich, Donna M., Krier, Joel B., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., McConkie-Rosell, Allyn, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina GS, Parker, Neil H., Phillips, John A., Postlethwait, John H., Reuter, Chloe M., Sampson, Jacinda B., Scott, Daryl A., Sharma, Prashant, Shashi, Vandana, Silverman, Edwin K., Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wan, Jijun, Wangler, Michael F., Ward, Patricia A., Wheeler, Matthew T., Wolfe, Lynne A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, Yaping, Yu, Guoyun, Zhao, Chunli, Zheng, Allison

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Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder von Yoon, Wan Hee, Jangam, Sharayu, Davidson, Jean M., Grove, Megan E., Kohler, Jennefer N., Holmes, Matthew, Zhao, Chunli, Contrepois, Kévin, Heyman, Heino M., Webb-Robertson, Bobbie-Jo M., Alejandro, Mercedes E., Allard, Patrick, Balasubramanyam, Ashok, Barseghyan, Hayk, Bican, Anna, Birch, Camille L., Bostwick, Bret L., Briere, Lauren C., Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D’Souza, Precilla, Dayal, Jyoti G., Dell’Angelica, Esteban C., Dorset, Daniel C., Draper, David D., Eckstein, David J., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Glanton, Emily, Godfrey, Rena A., Goldstein, David B., Gould, Sarah E., Gourdine, Jean-Philippe F., Hanchard, Neil A., Herzog, Matthew R., Hom, Jason, Howerton, Ellen M., Huang, Yong, Jacob, Howard J., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krier, Joel B., Lazar, Jozef, Lee, Hane, Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Majcherska, Marta M., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, May, Thomas, McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Novacic, Donna, Orange, Jordan S., Palmer, Christina G.S., Potocki, Lorraine, Pusey, Barbara N., Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Samson, Susan L., Schoch, Kelly, Schroeder, Molly C., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stong, Nicholas, Tifft, Cynthia J., Tran, Alyssa A., Valivullah, Zaheer M., Ward, Patricia A., Yamamoto, Shinya, Snyder, Michael, Merker, Jason D., Fisher, Paul G., Mayr, Johannes A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A.

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes von Phillips, Jennifer B., Lanza, Denise G., Jain, Mahim, Raman, Vandana, Chitayat, David, Chinn, Ivan K., Bertuch, Alison A., Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Gibbs, Richard A., Rosenfeld, Jill A., Postlethwait, John, Beaudet, Arthur L., Ranza, Emmanuelle, Cormier-Daire, Valérie, Orange, Jordan S., Allard, Patrick, Barseghyan, Hayk, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Briere, Lauren C., Brokamp, Elly, Brush, Matthew, Coakley, Terra R., Cope, Heidi, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Duncan, Laura, Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Glanton, Emily, Goldman, Alica M., Gourdine, Jean-Philippe F., Groden, Catherine A., Haendel, Melissa, Hamid, Rizwan, High, Frances, Huang, Yong, Karaviti, Lefkothea, Kohler, Jennefer N., Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lee, Hane, Loo, Sandra K., Loscalzo, Joseph, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., McCray, Alexa T., Metz, Thomas O., Murdock, David R., Newberry, J. Scott, Nicholas, Sarah K., Palmer, Christina G.S., Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Pusey, Barbara N., Sampson, Jacinda B., Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tan, Queenie K.-G., Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Wangler, Michael F., Waters, Katrina M., Westerfield, Monte, Wise, Anastasia L., Yang, John, Yang, Yaping, Yoon, Amanda J., Zastrow, Diane B., Zhao, Chunli, Offiah, Amaka C., Carey, John C., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan

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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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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases von Pena, Loren D M, Jiang, Yong-Hui, Schoch, Kelly, Spillmann, Rebecca C, Walley, Nicole, Stong, Nicholas, Rapisardo Horn, Sarah, Sullivan, Jennifer A, McConkie-Rosell, Allyn, Kansagra, Sujay, Smith, Edward C, El-Dairi, Mays, Bellet, Jane, Keels, Martha Ann, Jasien, Joan, Kranz, Peter G, Noel, Richard, Nagaraj, Shashi K, Lark, Robert K, Wechsler, Daniel S G, del Gaudio, Daniela, Leung, Marco L, Hendon, Laura G, Parker, Collette C, Jones, Kelly L, Goldstein, David B, Shashi, Vandana

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IRF2BPL Is Associated with Neurological Phenotypes von Shashi, Vandana, Spillmann, Rebecca C., Stong, Nicholas, Rosenfeld, Jill A., Martínez-Agosto, Julián A., Herzog, Matthew, Chen, Agnes H., Dickson, Patricia I., Vera, Moin U., Graham, John M., Infante, Elena, Zuo, Zhongyuan, Lee, Pei-Tseng, Xia, Fan, Smith, Edward C., Jasien, Joan, Spiridigliozzi, Gail, Koeberl, Dwight D., Golden-Grant, Katie, Terryn, Wim, Adams, David R., Allard, Patrick, Bacino, Carlos A., Bick, David P., Bostwick, Bret L., Brush, Matthew, Burrage, Lindsay C., Clark, Gary D., Coakley, Terra R., Cooper, Cynthia M., D’Souza, Precilla, Davids, Mariska, Dell’Angelica, Esteban C., Dhar, Shweta U., Dillon, Ani, Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Esteves, Cecilia, Fogel, Brent L., Gahl, William A., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., Howerton, Ellen M., Jiang, Yong-hui, Johnston, Jean M., Krier, Joel B., Lalani, Seema R., Lau, C. Christopher, Lee, Brendan H., Levy, Shawn E., Lewis, Richard A., Lipson, Allen, Loo, Sandra K., Macnamara, Ellen F., MacRae, Calum A., Manolio, Teri A., Martínez-Agosto, Julian A., McConkie-Rosell, Allyn, McCormack, Colleen E., Morimoto, Marie, Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Robertson, Amy K., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Smith, Kevin S., Splinter, Kimberly, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Waters, Katrina M., Westerfield, Monte, Yamamoto, Shinya, Yu, Guoyun, Zheng, Allison, Wangler, Michael F., Nelson, Stanley F., Bellen, Hugo J.

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Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review von Kumar, Akash, Zastrow, Diane B., Kravets, Elijah J., Beleford, Daniah, Ruzhnikov, Maura R. Z., Grove, Megan E., Dries, Annika M., Kohler, Jennefer N., Waggott, Daryl M., Yang, Yaping, Huang, Yong, Mackenzie, Katherine M., Eng, Christine M., Fisher, Paul G., Ashley, Euan A., Teng, Joyce M., Stevenson, David A., Shieh, Joseph T., Wheeler, Matthew T., Bernstein, Jonathan A.

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Characteristics of undiagnosed diseases network applicants: implications for referring providers von Walley, Nicole M, Pena, Loren D M, Hooper, Stephen R, Cope, Heidi, Jiang, Yong-Hui, McConkie-Rosell, Allyn, Sanders, Camilla, Schoch, Kelly, Spillmann, Rebecca C, Strong, Kimberly, McCray, Alexa T, Mazur, Paul, Esteves, Cecilia, LeBlanc, Kimberly, Wise, Anastasia L, Shashi, Vandana

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Post-earthquake building safety inspection; lessons from the Canterbury, New Zealand, earthquakes von Marshall, Justin D, Jaiswal, Kishor, Gould, Nathan, Turner, Fred, Lizundia, Bret, Barnes, Jim C

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Reported environmental exposures are inversely associated with obtaining a genetic diagnosis in the Undiagnosed Diseases Network von Silverman, Edwin K., Allard, Patrick, Loscalzo, Joseph, Mulvihill, John J., Korrick, Susan A.

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Biallelic Mutations in ATP5F1D , which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder von Oláhová, Monika, Yoon, Wan Hee, Jangam, Sharayu, Fernandez, Liliana, Davidson, Jean M., Grove, Megan E., Fisk, Dianna G., Kohler, Jennefer N., Holmes, Matthew, Huang, Yong, Contrepois, Kévin, Waggott, Daryl, Kim, Young-Mo, Heyman, Heino M., Stratton, Kelly G., Snyder, Michael, Fisher, Paul G., Feichtinger, René G., Mayr, Johannes A., Hall, Julie, Simpson, Michael A., Morris, Andrew A., Schelley, Susan, Friederich, Marisa W., McFarland, Robert, Van Hove, Johan L. K., Yamamoto, Shinya, Wangler, Michael F., Taylor, Robert W., Bernstein, Jonathan A., Adams, David R., Alejandro, Mercedes E., Bacino, Carlos A., Batzli, Gabriel F., Beggs, Alan H., Behnam, Babak, Bican, Anna, Birch, Camille L., Bonner, Devon, Boone, Braden E., Brush, Matthew, Burrage, Lindsay C., Cooper, Cynthia M., D’Souza, Precilla, Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Dorset, Daniel C., Draper, David D., Eng, Christine M., Ferreira, Carlos, Fogel, Brent L., Friedman, Noah D., Gahl, William A., Glanton, Emily, Gould, Sarah E., Gourdine, Jean-Philippe F., Groden, Catherine A., Gropman, Andrea L., Hanchard, Neil A., Herzog, Matthew R., Jain, Mahim, Kohane, Isaac S., Krieg, Elizabeth L., Krier, Joel B., Lee, Brendan H., Lee, Hane, Levy, Shawn E., Lewis, Richard A., Loo, Sandra K., Loscalzo, Joseph, MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Manolio, Teri A., Marwaha, Shruti, May, Thomas, McCray, Alexa T., Might, Matthew, Moretti, Paolo M., Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Novacic, Donna, Pallais, J. Carl, Palmer, Christina G. S., Parker, Neil H., Phillips, John A., Rodan, Lance H., Rosenfeld, Jill A., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Sharma, Prashant, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Vogel, Tiphanie P., Walley, Nicole M., Walsh, Chris A.

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Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students von White, Shana, Fisk, Dianna G., Rego, Shannon, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Ormond, Kelly E., Hanson‐Kahn, Andrea K., Adams, David R., Aday, Aaron, Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F., Bellen, Hugo J., Bernstein, Jonathan A., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Burrage, Lindsay C., Butte, Manish J., Chen, Shan, Clark, Gary D., Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dayal, Jyoti G., Dorrani, Naghmeh, Enns, Gregory M., Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fisher, Paul G., Fogel, Brent L., Gahl, William A., Gourdine, Jean‐Philippe F., Gropman, Andrea L., Haendel, Melissa, Johnston, Jean M., Krasnewich, Donna M., Lalani, Seema R., Lee, Brendan H., Levy, Shawn E., Lincoln, Sharyn A., Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mamounas, Laura A., Marom, Ronit, Martin, Martin G., Martínez‐Agosto, Julian A., Marwaha, Shruti, McCormack, Colleen E., Might, Matthew, Morimoto, Marie, Mulvihill, John J., Murdock, David R., Murphy, Jennifer L., Scott Newberry, J., Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Carl Pallais, J., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Sullivan, Jennifer A., Tifft, Cynthia J., Urv, Tiina K., Vilain, Eric, Walley, Nicole M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yang, Yaping, Yoon, Amanda J., Yu, Guoyun, Zhao, Chunli, Zheng, Allison

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A toolkit for genetics providers in follow‐up of patients with non‐diagnostic exome sequencing von Zastrow, Diane B., Bonner, Devon, Reuter, Chloe M., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Fisher, Paul G., Merker, Jason, Schelley, Susan, Zappala, Zach, Prybol, Cameron, Olahova, Monika, Allard, Patrick, Bacino, Carlos A., Beggs, Alan H., Behnam, Babak, Bick, David P., Birch, Camille L., Bostwick, Bret L., Brokamp, Elly, Brown, Donna M., Chen, Shan, Coakley, Terra R., Cogan, Joy D., Cope, Heidi, Craigen, William J., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dipple, Katrina M., Dorrani, Naghmeh, Draper, David D., Dries, Annika M., Eckstein, David J., Emrick, Lisa T., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Godfrey, Rena A., Goldstein, David B., Hamid, Rizwan, Holm, Ingrid A., Howerton, Ellen M., Huang, Yong, Jones, Angela L., Karaviti, Lefkothea, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Hane, Lewis, Richard A., Lincoln, Sharyn A., Loo, Sandra K., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez‐Agosto, Julian A., May, Thomas, McConkie‐Rosell, Allyn, McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Moretti, Paolo M., Mulvihill, John J., Muzny, Donna M., Nelson, Stan F., Newberry, J. Scott, Nicholas, Sarah K., Orengo, James P., Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Posey, Jennifer E., Postlethwait, John H., Rosenfeld, Jill A., Sampson, Jacinda B., Shakachite, Lisa, Sharma, Prashant, Stoler, Joan M., Sweetser, David A., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vilain, Eric, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Webb‐Robertson, Bobbie‐Jo M., Westerfield, Monte, Wolfe, Lynne A., Yu, Guoyun, Zheng, Allison

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