Interferon regulatory factor 3 mediates effective antiviral responses to human coronavirus 229E and OC43 infection by Duncan, Joseph K Sampson, Xu, Danyang, Licursi, Maria, Joyce, Michael A, Saffran, Holly A, Liu, Kaiwen, Gohda, Jin, Tyrrell, D Lorne, Kawaguchi, Yasushi, Hirasawa, Kensuke

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Antiviral roles of interferon regulatory factor (IRF)-1, 3 and 7 against human coronavirus infection by Xu, Danyang, Sampson Duncan, Joseph K, Licursi, Maria, Gohda, Jin, Kawaguchi, Yasushi, Hirasawa, Kensuke

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High insecticide resistance intensity of Anopheles gambiae (s.l.) and low efficacy of pyrethroid LLINs in Accra, Ghana by Pwalia, Rebecca, Joannides, Joannitta, Iddrisu, Alidu, Addae, Charlotte, Acquah-Baidoo, Dominic, Obuobi, Dorothy, Amlalo, Godwin, Akporh, Samuel, Gbagba, Sampson, Dadzie, Samuel K, Athinya, Duncan K, Hadi, Melinda P, Jamet, Helen Pates, Chabi, Joseph

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Immunogenicity of standard and extended dosing intervals of BNT162b2 mRNA vaccine by Payne, Rebecca P., Austin, James A., Skelly, Donal T., Meardon, Naomi, Faustini, Sian, Al-Taei, Saly, Moore, Shona C., Hering, Luisa M., Angyal, Adrienn, Brown, Rebecca, Nicols, Alexander R., Gillson, Natalie, Dobson, Susan L., Amini, Ali, Supasa, Piyada, Cross, Andrew, Bridges-Webb, Alice, Linder, Aline, Altmann, Thomas, Whitham, Rachel, Phillips, Eloise, Hargreaves, Alexander, Shields, Adrian, Foulkes, Sarah, Johnson, Sile, Wootton, Daniel G., Conlon, Christopher P., Matthews, Philippa C., Frater, John, Deeks, Alexandra S., Pollard, Andrew J., Brown, Anthony, Rowland-Jones, Sarah L., Mongkolsapaya, Juthathip, Hopkins, Susan, Dold, Christina, Richter, Alex, Carroll, Miles, Screaton, Gavin, de Silva, Thushan I., Turtle, Lance, Klenerman, Paul, Dunachie, Susanna, Abuelgasim, Hibatullah, Adland, Emily, Adlou, Syed, Akther, Hossain Delowar, Ansari, M. Azim, Arancibia-Cárcamo, Carolina V., Bayley, Martin, Brown, Helen, Chand, Meera, Chawla, Anu, Chinnakannan, Senthil, Cutteridge, Joseph, de Lara, Catherine, Denly, Lucy, Diffey, Ben, Dimitriadis, Stavros, Drake, Thomas M., Donnison, Timothy, Dupont, Maeva, Gardiner, Siobhan, Gilbert-Jarmillo, Javier, Goulder, Philip, Hackstein, Carl-Philipp, Hambleton, Sophie, Haniffa, Muzlifah, Haworth, Jenny, Holmes, Jennifer, Jämsén, Anni, Johnson, Sile, Jones, Chris, Kelly, Sinead, Kirk, Rosemary, Knight, Michael L., Lawrie, Allan, Lee, Lian, Lett, Lauren, Lim, Nicholas, Mentzer, Alexander J., O’Donnell, Denise, Payne, Brendan A.I., Provine, Nicholas, Robinson, Nichola, Romaniuk, Leigh, Simmons, Beatrice, Spegarova, Jarmila S., Stephenson, Emily, Subramaniam, Kris, Travis, Simon, Tucker, Stephanie, Watson, Adam, Watson, Lisa, Weeks, Esme, Wilson, Robert, Wood, Steven, Wright, Rachel, Xiao, Huiyuan, Zawia, Amira A.T.

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification by Becerril, Alissa, Larson, Austin, Zerfas, Patricia M., Acosta, Maria T., Agrawal, Pankaj, Alejandro, Mercedes E., Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Birch, Camille L., Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bostwick, Bret L., Brokamp, Elly, Burrage, Lindsay C., Carey, John, Clark, Gary D., Cope, Heidi, Dasari, Surendra, Dayal, Jyoti G., Dorset, Daniel C., Eng, Christine M., Esteves, Cecilia, Fresard, Laure, Goldman, Alica M., Goldstein, David B., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Holm, Ingrid A., Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Kohane, Isaac S., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lazar, Jozef, Levy, Shawn E., Liu, Xue Zhong, Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Marom, Ronit, Martínez-Agosto, Julian A., McCormack, Colleen E., McCray, Alexa T., Might, Matthew, Morava-Kozicz, Eva, Murdock, David R., Nath, Avi, Nelson, Stan F., Newman, John H., Orengo, James P., Pace, Laura, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Raja, Archana N., Reuter, Chloe M., Rives, Lynette, Rowley, Robb K., Sampson, Jacinda B., Saporta, Mario, Schedl, Timothy, Shields, Kathleen, Signer, Rebecca, Sillari, Catherine H., Sisco, Kathy, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Wahl, Colleen E., Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Zuchner, Stephan, Day-Salvatore, Debra L., Mindell, Joseph A.

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling by Johnson, Brett V., Alexander, Suzy, Vega, Michelle Sanchez, Domingo, Deepti, Oh, Tracey, Lines, Matthew, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Billette de Villemeur, Thierry, Koolen, David A., Sa, Joaquim, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Goldstein, Amy, Madan-Khetarpal, Suneeta, Sullivan, Jennifer A., Bacino, Carlos A., Baker, Eva, Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Butte, Manish J., Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dhar, Shweta U., Douine, Emilie D., Draper, David D., Emrick, Lisa T., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Hanchard, Neil A., Jiang, Yong-hui, Karaviti, Lefkothea, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lanpher, Brendan C., LeBlanc, Kimberly, Lee, Brendan H., Liu, Xue Zhong, Marwaha, Shruti, McCauley, Jacob, Morimoto, Marie, Nath, Avi, Nelson, Stan F., Newman, John H., Oglesbee, Devin, Orengo, James P., Pak, Stephen, Parker, Neil H., Phillips, John A., Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Schedl, Timothy, Shakachite, Lisa, Sharma, Prashant, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Vogel, Tiphanie P., Wahl, Colleen E., Walsh, Chris A., Wang, Lee-kai, Wangler, Michael F., Worthey, Elizabeth A., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Gahl, William, Sullivan, Jennifer A., Barnett, Sarah S., Perry, M. Scott, Schuette, Jane L., Smith, Laurie D., Rosenfeld, Jill A., Bhoj, Elizabeth, Kaplan, Paige, Oegema, Renske, Armstrong, Martin, Lin, Angela E., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Mosher, Theresa Mihalic, Tezcan, Kamer, Penzes, Peter, Piper, Michael

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De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation by Mao, Dongxue, Reuter, Chloe M., Farrow, Emily G., Rosenfeld, Jill A., Mackenzie, Katherine M., Küry, Sébastien, Genetti, Casie A., Alejandro, Mercedes, Agrawal, Pankaj B., Alvey, Justin, Ashley, Euan A., Balasubramanyam, Ashok, Beck, Anita, Bellen, Hugo J., Berg-Rood, Beverly, Bernier, Raphael, Bivona, Stephanie, Bohnsack, John, Briere, Lauren C., Burke, Elizabeth A., Butte, Manish J., Carrasquillo, Olveen, Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dhar, Shweta U., Emrick, Lisa T., Estwick, Tyra, Ferreira, Carlos, Fieg, Elizabeth L., Fogel, Brent L., Forghani, Irman, Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Hahn, Sihoun, Hanchard, Neil A., Hing, Anne, Holm, Ingrid A., Huang, Yong, Jamal, Fariha, Jayadev, Suman, Karaviti, Lefkothea, Kelley, Emily G., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lee, Brendan H., Lewis, Richard A., Loo, Sandra K., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Martin, Martin G., Martínez-Agosto, Julian A., McCormack, Colleen E., Merritt, J. Lawrence, Moretti, Paolo M., Mulvihill, John J., Murdock, David R., Nickerson, Deborah, Pallais, J. Carl, Posey, Jennifer E., Potocki, Lorraine, Raja, Archana N., Renteria, Genecee, Rosenfeld, Jill A., Samson, Susan L., Schedl, Timothy, Shakachite, Lisa, Signer, Rebecca, Silverman, Edwin K., Sybert, Virginia, Tekin, Mustafa, Thorson, Willa, Tran, Alyssa A., Urv, Tiina K., Wahl, Colleen E., Wegner, Daniel, Wheeler, Matthew T., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Bernstein, Jonathan A., Chao, Hsiao-Tuan

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Model organisms contribute to diagnosis and discovery in the undiagnosed diseases network: current state and a future vision by 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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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder by Schneeberger, Pauline E, Kortüm, Fanny, Korenke, Georg Christoph, Alawi, Malik, Santer, René, Woidy, Mathias, Buhas, Daniela, Fox, Stephanie, Juusola, Jane, Alfadhel, Majid, Webb, Bryn D, Coci, Emanuele G, Abou Jamra, Rami, Siekmeyer, Manuela, Biskup, Saskia, Heller, Corina, Maier, Esther M, Javaher-Haghighi, Poupak, Bedeschi, Maria F, Ajmone, Paola F, Iascone, Maria, Peeters, Hilde, Ballon, Katleen, Jaeken, Jaak, Rodríguez Alonso, Aroa, Palomares-Bralo, María, Santos-Simarro, Fernando, Meuwissen, Marije E C, Beysen, Diane, Kooy, R Frank, Houlden, Henry, Murphy, David, Doosti, Mohammad, Karimiani, Ehsan G, Mojarrad, Majid, Maroofian, Reza, Noskova, Lenka, Kmoch, Stanislav, Honzik, Tomas, Cope, Heidi, Sanchez-Valle, Amarilis, Gelb, Bruce D, Kurth, Ingo, Hempel, Maja, Kutsche, Kerstin

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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia by Kanca, Oguz, Andrews, Jonathan C., Patel, Chirag, Slavotinek, Anne M., Williams, Judy, Indaram, Maanasa, Lau, C. Christopher, Adams, David R., Agrawal, Pankaj, Bademci, Guney, Baker, Eva, Baldridge, Dustin, Bale, Jim, Batzli, Gabriel F., Bayrak-Toydemir, Pinar, Bernstein, Jonathan A., Bick, David P., Bohnsack, John, Briere, Lauren C., Carey, John, Cogan, Joy D., Cole, F. Sessions, D'Souza, Precilla, Dayal, Jyoti G., Dorset, Daniel C., Douine, Emilie D., Draper, David D., Duncan, Laura, Fieg, Elizabeth L., Forghani, Irman, Fresard, Laure, Godfrey, Rena A., Goldman, Alica M., Groden, Catherine A., Haendel, Melissa, Hayes, Nichole, Huang, Alden, Huang, Yong, Jones, Angela L., Krasnewich, Donna M., Kyle, Jennifer E., Lalani, Seema R., Lau, C. Christopher, Levy, Shawn E., Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Markello, Thomas C., Marth, Gabor, McConkie-Rosell, Allyn, Might, Matthew, Morimoto, Marie, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rosenfeld, Jill A., Ruzhnikov, Maura, Samson, Susan L., Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Shakachite, Lisa, Sharma, Prashant, Shashi, Vandana, Shields, Kathleen, Sillari, Catherine H., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stong, Nicholas, Sweetser, David A., Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Walley, Nicole M., Wang, Lee-kai, Wangler, Michael F., Wegner, Daniel, Wolfe, Lynne A., Worthey, Elizabeth A., Yu, Guoyun, Zhao, Chunli, Chung, Wendy K., Dobyns, William B., Adams, David R., Gahl, William A., Malicdan, May Christine V.

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects by Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F, Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N, Hopkin, Robert J, Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H, Severino, Mariasavina, Rouleau, Guy A, Yam, Patricia T, Charron, Frédéric, Srour, Myriam

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Bi-allelic variants in INTS11 are associated with a complex neurological disorder by 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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Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome by 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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Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science by Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J, Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B, Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T, Cogan, Joy, Bernstein, Jonathan A, Adams, David R, McCray, Alexa T, Shashi, Vandana

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An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids by Ruiter, Jos P.N., van Lint, Alida E.M., Pras-Raves, Mia, Wever, Eric, Guillen Sacoto, Maria J., Begtrup, Amber, Tarnopolsky, Mark, Sell, Susan L., Nowak, Catherine B., Douglas, Jessica, Perlman, Seth, Martin, Nicole, Brault, Jennifer, Gahl, William A., Alejandro, Mercedes E., Dai, Hongzheng, Dhar, Shweta U., Hanchard, Neil A., Lee, Brendan H., Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Potocki, Lorraine, Scott, Daryl A., Eng, Christine M., Deardorff, Matthew, Hassey, Kelly, Sullivan, Kathleen, Tan, Queenie K.-G., Beggs, Alan H., Berry, Gerard T., Cooper, Cynthia M., Pallais, J. Carl, Rodan, Lance H., Kelley, Emily G., Morava, Eva, Forghani, Irman, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Tekin, Mustafa, Thorson, Willa, Findley, Laurie C., Krasnewich, Donna M., Manolio, Teri A., Goldrich, Madison P., Draper, David D., Nath, Avi, Pusey, Barbara N., Toro, Camilo, Baker, Eva, Gochuico, Bernadette, Mosbrook-Davis, Deborah, Rossignol, Francis, Adam, Margaret, Amendola, Laura, Cunningham, Michael, Jarvik, Gail P., Jarvik, Jeffrey, Lam, Christina, Raskind, Wendy, Sybert, Virginia, Ashley, Euan A., Coakley, Terra R., Hom, Jason, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, Ruzhnikov, Maura, Tabor, Holly K., Tucker, Brianna M., Zastrow, Diane B., Byrd, William E., Dell’Angelica, Esteban C., Douine, Emilie D., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Parker, Neil H., Sinsheimer, Janet S., Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Pace, Laura, Marth, Gabor, Viskochil, Dave, Bayrak-Toydemir, Pinar, Duncan, Laura, Robertson, Amy K., Solem, Emily, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Waisfisz, Quinten, Zwijnenburg, Petra J.G., Wanders, Ronald J.A., Vaz, Frédéric M.

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Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes by 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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Macrocephaly and developmental delay caused by missense variants in RAB5C by 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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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder by Barish, Scott, Senturk, Mumine, Schoch, Kelly, Minogue, Amanda L, Lopergolo, Diego, Fallerini, Chiara, Harland, Jake, Seemann, Jacob H, Stong, Nicholas, Kranz, Peter G, Kansagra, Sujay, Mikati, Mohamad A, Jasien, Joan, El-Dairi, Mays, Galluzzi, Paolo, Ariani, Francesca, Renieri, Alessandra, Mari, Francesca, Wangler, Michael F, Arur, Swathi, Jiang, Yong-Hui, Yamamoto, Shinya, Shashi, Vandana, Bellen, Hugo J

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder by Shankar, Suma P., Grimsrud, Kristin, Stoler, Joan, Brinkmann, Ulrich, Adam, Margaret, Amendola, Laura, Andrews, Ashley, Bacino, Carlos A., Bademci, Guney, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Berg-Rood, Beverly, Berry, Gerard T., Bivona, Stephanie, Blue, Elizabeth, Boyd, Brenna, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Byers, Peter, Carey, John, Chao, Hsiao-Tuan, Colley, Heather A., Cooper, Cynthia M., Cunningham, Michael, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Eckstein, David J., Fernandez, Liliana, Forghani, Irman, Golden-Grant, Katie, Goldrich, Madison P., Hamid, Rizwan, Hassey, Kelly, Introne, Wendy, Isasi, Rosario, Jamal, Fariha, Jayadev, Suman, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Krasnewich, Donna M., Lanpher, Brendan C., LeBlanc, Kimberly, Levitt, Roy, Longo, Nicola, Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Mao, Rong, Maravilla, Kenneth, Martin, Martin G., McGee, Elisabeth, Might, Matthew, Moretti, Paolo M., Nicholas, Sarah K., Orengo, James P., Pace, Laura, Pak, Stephen, Papp, Jeanette C., Parker, Neil H., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Saporta, Mario, Scott, Daryl A., Silverman, Edwin K., Smith, Edward C., Smith, Kevin S., Stoler, Joan M., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Telischi, Fred, Tifft, Cynthia J., Urv, Tiina K., Vogel, Tiphanie P., Wahl, Colleen E., Wang, Lee-kai, Wangler, Michael F., Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Wolfe, Lynne A., Zastrow, Diane B., Zuchner, Stephan

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Continuing a search for a diagnosis: the impact of adolescence and family dynamics by Miller, Ilana M, Yashar, Beverly M, Macnamara, Ellen F

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