Pressing Process for the Production of Thin Graphite Compound Bipolar Plates for High-Performance Applications von Bobka, P., Möhlen, R.-M., Brokamp, S., Gabriel, F., Leithoff, R., Dröder, K.

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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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Returning integrated genomic risk and clinical recommendations: The eMERGE study von Chisholm, Rex L., Clayton, Ellen Wright, DiVietro, Alanna, Green, Richard, Harden, Maegan V., Limdi, Nita A., Rasmussen, Luke V., Schmidlen, Tara, Cimino, James J., Guiducci, Candace, Harr, Margaret, Larkin, Katie, Mooney, Sean D., Mutai, Brenda, Namjou, Bahram, Perez, Emma F., Saadatagah, Seyedmohammad, Seabolt, Lynn, Shaibi, Gabriel Q., Sharp, Richard R., Sterling, Rene, Tiwari, Hemant K., Allworth, Aimee, DiVietro, Alanna, Khera, Amit, Kontorovich, Amy, Prince, Anya, Iverson, Ayuko, Khales, Bahram Namjou, Benoit, Barbara, Satterfield, Benjamin, Devine, Beth, Grundmeier, Bob, Piening, Brian, Korf, Bruce, Hammack, Catherine, Gascoigne, Caytie, Lange, Christoph, Liu, Cong, Shimbo, Daichi, Singh, Davinder, Edwards, Digna Velez, Morales, Eduardo, Cohn, Elizabeth, Karlson, Elizabeth, DeFranco, Emily, Perez, Emma, Cash, Erin, Berner, Eta, Wang, Fei, Mentch, Frank, Wiesner, Georgia, Belbin, Gillian, Hakonarson, Hakon, Tiwari, Hemant, Thomas, Hope, Hellwege, Jacklyn, Snyder, James, Olson, Janet, Glessner, Joe, Alsip, Jorge, Kannry, Joseph, Peterson, Josh, Galasso, Julia, Starren, Justin, Mittendorf, Kate, Anderson, Katherine, Bonini, Katherine, Rasmussen-Torvik, Laura, Gomez, Lizbeth, Petukhova, Lynn, Beasley, Mark, Horike, Martha, Hamed, Marwan, Davis, Matthew, Preuss, Michael, Shi, Mingjian, Perera, Minoli, Elkind, Mitch, Saadatagah, Mohammad, Netherly, Neil, Lennon, Niall, Limdi, Nita, Robinson, Nora, Elsekaily, Omar, Kovatch, Patricia, O’Reilly, Paul, Murali, Priyanka, Sharp, Richard, Peters, Riki, Rowley, Robb, Freimuth, Robert, Green, Robert, Winter, Robert, Irvin, Ryan, Knerr, Sarah, Bland, S.T., Booth, Stuart James, Desai, Vimi, Luo, Yuan

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Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification von 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 von 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 von 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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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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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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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia von 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 von 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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Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder von 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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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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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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The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorder von 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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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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Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11 von Ravenscroft, Thomas A., Fieg, Elizabeth, Zirin, Jonathan, Kanca, Oguz, Adam, Margaret, Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Andrews, Ashley, Azamian, Mahshid S., Bademci, Guney, Balasubramanya, Ashok, Behrens, Edward, Bican, Anna, Bohnsack, John, Botto, Lorenzo, Brown, Gabrielle, Byers, Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Cobban, Laurel A., Cogan, Joy D., Colley, Heather A., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Dai, Hongzheng, Dayal, Jyoti G., Dipple, Katrina, Dorrani, Naghmeh, Draper, David D., Emrick, Lisa T., Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Findley, Laurie C., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Kiley, Dana, Krasnewich, Donna M., Lam, Christina, Lee, Hane, MacDowall, John, Majcherska, Marta M., Mak, Bryan C., Mamounas, Laura A., Martínez-Agosto, Julian A., McCauley, Jacob, Mulvihill, John J., Newman, John H., Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Palmer, Christina GS, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Rives, Lynette, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Scott, C. Ron, Schedl, Timothy, Shashi, Vandana, Tan, Queenie K.-G., Toro, Camilo, Viskochil, Dave, Wahl, Colleen E., Wambach, Jennifer, Wang, Lee-kai, Wener, Mark, Perry, Katherine Wesseling, Westerfield, Monte, Whitlock, Jordan, Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zhao, Chunli, Osmond, Matthew, Postlethwait, John H., Krier, Joel, Bellen, Hugo J.

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder von Mignot, Cyril, Littlejohn, Rebecca O., Bademci, Guney, Balasubramanyam, Ashok, Beck, Anita, Berg-Rood, Beverly, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Butte, Manish J., Peter Chang, Ta Chen, D'Souza, Precilla, Dasari, Surendra, Dayal, Jyoti G., Dell'Angelica, Esteban C., Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Gahl, William A., Goddard, Page C., Golden-Grant, Katie, Grajewski, Alana, Hadley, Don, Hahn, Sihoun, Halley, Meghan C., High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hutchison, Sarah, Izumi, Kosuke, Jarvik, Gail P., Jayadev, Suman, Jean-Marie, Orpa, Kennedy, Jennifer, Ketkar, Shamika, Kohane, Isaac S., Kohler, Jennefer N., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Levitt, Roy, Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Macnamara, Ellen F., Maduro, Valerie V., Manolio, Teri A., Marth, Gabor, Martin, Beth A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Morava, Eva, Nakano-Okuno, Mariko, Newman, John H., Nickerson, Deborah, Oglesbee, Devin, Pallais, J. Carl, Phillips, John A., Rosenwasser, Natalie, Schedl, Timothy, Shashi, Vandana, Sisco, Kathy, Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Sullivan, Jennifer A., Sweetser, David A., Sybert, Virginia, Tekin, Mustafa, Telischi, Fred, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Wallace, Stephanie, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Ward, Patricia A., Hubshman, Monika Weisz, Wenger, Tara, Westerfield, Monte, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Sarret, Catherine, Platzer, Konrad, Fischer, Susann, Granadillo, Jorge L., Schreiner, Elisabeth

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Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases von Krier, Joel B., Züchner, Stephan, Huang, Alden, Bastarache, Lisa, Bican, Anna, Liu, Pengfei, Adam, Margaret, Alejandro, Mercedes E., Alvey, Justin, Azamian, Mahshid S., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Bale, Jim, Beck, Anita, Bennett, Jimmy, Berry, Gerard T., Bican, Anna, Bohnsack, John, Bonner, Devon, Boyd, Brenna, Brown, Gabrielle, Burrage, Lindsay C., Butte, Manish J., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Cunningham, Michael, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Eng, Christine M., Falk, Marni, Ferreira, Carlos, Findley, Laurie C., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Godfrey, Rena A., Hanchard, Neil A., Hing, Anne, Huryn, Laryssa, Isasi, Rosario, Kiley, Dana, Korrick, Susan, Krakow, Deborah, Lalani, Seema R., LeBlanc, Kimberly, Liu, Xue Zhong, MacDowall, John, MacRae, Calum A., Mamounas, Laura A., Maravilla, Kenneth, Markello, Thomas C., Martin, Beth A., Martin, Martin G., Marwaha, Shruti, McCauley, Jacob, Merritt, J. Lawrence, Might, Matthew, Moretti, Paolo, Murdock, David R., Nakano-Okuno, Mariko, Nickerson, Deborah, Oglesbee, Devin, Pace, Laura, Pallais, J. Carl, Papp, Jeanette C., Phillips, John A., Power, Bradley, Pusey, Barbara N., Raja, Archana N., Renteria, Genecee, Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sampson, Jacinda B., Schedl, Timothy, Shin, Jimann, Smith, Edward C., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Toro, Camilo, Tucker, Brianna M., Velinder, Matt, Viskochil, Dave, Wambach, Jennifer, Wang, Lee-kai, Ward, Patricia A., Wener, Mark, Westerfield, Monte, Whitlock, Jordan, Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Zein, Wadih

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A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder von 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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