Redevelopment of tertiary psychiatric services in British Columbia: A prospective study of clinical, social, and residential outcomes of former long-stay inpatients by Petersen, Karen L, Nicholls, Tonia L, Groden, David, Schmitz, Norbert, Stip, Emmanuel, Goldner, Elliot M, Arnold, Leslie M, Lesage, Alain

Get full text

Calcium transients and electrophysiology in myocytes from young and senescent rats by Groden, David L., Guan, Zhen, Biagi, Bruce A., Altsehuld, Ruth A., Stokes, Bradford T.

Get full text

Additive manufacturing of Ti-Ni bimetallic structures by Afrouzian, Ali, Groden, Cory J., Field, David P., Bose, Susmita, Bandyopadhyay, Amit

Get full text

Bone marrow sinusoidal endothelium controls terminal erythroid differentiation and reticulocyte maturation by Heil, Joschka, Olsavszky, Victor, Busch, Katrin, Klapproth, Kay, de la Torre, Carolina, Sticht, Carsten, Sandorski, Kajetan, Hoffmann, Johannes, Schönhaber, Hiltrud, Zierow, Johanna, Winkler, Manuel, Schmid, Christian David, Staniczek, Theresa, Daniels, Deborah E., Frayne, Jan, Metzgeroth, Georgia, Nowak, Daniel, Schneider, Sven, Neumaier, Michael, Weyer, Vanessa, Groden, Christoph, Gröne, Hermann-Josef, Richter, Karsten, Mogler, Carolin, Taketo, Makoto Mark, Schledzewski, Kai, Géraud, Cyrill, Goerdt, Sergij, Koch, Philipp-Sebastian

Get full text

The Werner and Bloom Syndrome Proteins Catalyze Regression of a Model Replication Fork by Machwe, Amrita, Xiao, Liren, Groden, Joanna, Orren, David K

Get full text

MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome by Wan, Ying-Wooi, Wangler, Michael F., Yamamoto, Shinya, Chao, Hsiao-Tuan, Mohr, Stephanie E., Adams, Christopher J., Allard, Patrick, Azamian, Mashid S., Bacino, Carlos A., Balasubramanyam, Ashok, Barseghyan, Hayk, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Birch, Camille L., Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Chao, Katherine R., Clark, Gary D., Cogan, Joy D., Cooper, Cynthia M., Craigen, William J., Dell’Angelica, Esteban C., Donnell-Fink, Laurel A., Draper, David D., Dries, Annika M., Emrick, Lisa T., Goheen, Mitchell, Golas, Gretchen A., Goldstein, David B., Gordon, Mary G., Gourdine, Jean-Philippe F., Graham, Brett H., Groden, Catherine A., Hackbarth, Mary E., Hamid, Rizwan, Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Johnston, Jean M., Koeller, David M., Kohler, Jennefer N., Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Latham, Lea, Latour, Yvonne L., Lee, Paul R., Levy, Shawn E., Liebendorfer, Adam P., Loomis, Carson R., Maas, Richard L., MacRae, Calum A., Manolio, Teri A., McConkie-Rosell, Allyn, McCray, Alexa T., Moretti, Paolo M., Mulvihill, John J., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Newberry, J. Scott, Nicholas, Sarah K., Novacic, Donna, Orange, Jordan S., Pena, Loren D.M., Posey, Jennifer E., Potocki, Lorraine, Ramoni, Rachel B., Robertson, Amy K., Rodan, Lance H., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Silverman, Edwin K., Soldatos, Ariane G., Splinter, Kimberly, Stoler, Joan M., Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tifft, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Tran, Alyssa A., Vilain, Eric, Wahl, Colleen E., Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wolfe, Lynne A., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Perrimon, Norbert, Bellen, Hugo J.

Get full text

Intrathecal activation of CD8+ memory T cells in IgG4‐related disease of the brain parenchyma by Friedrich, Mirco, Kehl, Niklas, Engelke, Niko, Kraus, Josephine, Lindner, Katharina, Münch, Philipp, Mildenberger, Iris, Groden, Christoph, Gass, Achim, Etminan, Nima, Fatar, Marc, von Deimling, Andreas, Reuss, David, Platten, Michael, Bunse, Lukas

Get full text

The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease by Ramoni, Rachel B., Mulvihill, John J., Adams, David R., Allard, Patrick, Ashley, Euan A., Gahl, William A., Loscalzo, Joseph, Adams, Christopher J., Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mashid S., Balasubramanyam, Ashok, Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Bick, David P., Birch, Camille L., Boone, Braden E., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Dorrani, Naghmeh, Dorset, Daniel C., Eckstein, David J., Estwick, Tyra, Godfrey, Rena A., Goheen, Mitchell, Goldstein, David B., Gordon, Mary “Gracie” G., Gourdine, Jean-Philippe F., Haendel, Melissa, Hamid, Rizwan, Handley, Lori H., Hardee, Isabel, Holm, Ingrid A., Howerton, Ellen M., Jacob, Howard J., Jones, Angela L., Koehler, Alanna E., Kohler, Jennefer N., Krasnewich, Donna M., Kyle, Jennifer E., Latham, Lea, Lau, C. Christopher, Lazar, Jozef, Lee, Hane, Lee, Paul R., Levy, Shawn E., Levy, Denise J., Lewis, Richard A., Liebendorder, Adam P., Loomis, Carson R., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Manolio, Teri A., Markello, Thomas C., Mazur, Paul, McConkie-Rosell, Allyn, Metz, Thomas O., Might, Matthew, Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Palmer, Christina G.S., Phillips, John A., Postlethwait, John H., Rosenfeld, Jill A., Schaffer, Katherine E., Schroeder, Molly C., Scott, Daryl A., Shashi, Vandana, Silverman, Edwin K., Sinsheimer, Janet S., Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Tolman, Nathanial J., Tran, Alyssa A., Valivullah, Zaheer M., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Warburton, Mike, Ward, Patricia A., Waters, Katrina M., Wheeler, Matthew T., Yu, Guoyun, Wise, Anastasia L.

Get full text

Transcriptional recapitulation and subversion of embryonic colon development by mouse colon tumor models and human colon cancer by Kaiser, Sergio, Park, Young-Kyu, Franklin, Jeffrey L, Halberg, Richard B, Yu, Ming, Jessen, Walter J, Freudenberg, Johannes, Chen, Xiaodi, Haigis, Kevin, Jegga, Anil G, Kong, Sue, Sakthivel, Bhuvaneswari, Xu, Huan, Reichling, Timothy, Azhar, Mohammad, Boivin, Gregory P, Roberts, Reade B, Bissahoyo, Anika C, Gonzales, Fausto, Bloom, Greg C, Eschrich, Steven, Carter, Scott L, Aronow, Jeremy E, Kleimeyer, John, Kleimeyer, Michael, Ramaswamy, Vivek, Settle, Stephen H, Boone, Braden, Levy, Shawn, Graff, Jonathan M, Doetschman, Thomas, Groden, Joanna, Dove, William F, Threadgill, David W, Yeatman, Timothy J, Coffey, Jr, Robert J, Aronow, Bruce J

Get full text

RecQ Family Members Combine Strand Pairing and Unwinding Activities to Catalyze Strand Exchange by Machwe, Amrita, Xiao, Liren, Groden, Joanna, Matson, Steven W, Orren, David K

Get full text

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.

Get full text

IRF2BPL Is Associated with Neurological Phenotypes by 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.

Get full text

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

Get full text

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay by 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.

Get full text

A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3 by Davids, Mariska, Pappas, John G., Rosenfeld, Jill A., McCarty, Alexandra J., Tifft, Cynthia, Stong, Nicholas, Johnson, Travis K., Warr, Coral G., Adams, Christopher J., Alejandro, Mercedes E., Ashley, Euan A., Barseghyan, Hayk, Beggs, Alan H., Bernstein, Jonathan A., Briere, Lauren C., Brush, Matthew, Cogan, Joy D., Craigen, William J., Davids, Mariska, Dayal, Jyoti G., Dhar, Shweta U., Dipple, Katrina M., Donnell-Fink, Laurel A., Dorrani, Naghmeh, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Fisher, Paul G., Frisby, Trevor S., Frost, Kate, Gahl, William A., Gartner, Valerie, Golas, Gretchen A., Gould, Sarah E., Graham, Brett H., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hanchard, Neil A., Herzog, Matthew R., Jacob, Howard J., Jain, Mahim, Jiang, Yong-hui, Jones, Angela L., Koehler, Alanna E., Kohane, Isaac S., Krasnewich, Donna M., Krieg, Elizabeth L., Lau, C. Christopher, Lazar, Jozef, Lee, Brendan H., Levy, Denise J., Liebendorder, Adam P., Lincoln, Sharyn A., Loomis, Carson R., Loscalzo, Joseph, Macnamara, Ellen F., MacRae, Calum A., Malicdan, May Christine V., Mamounas, Laura A., Markello, Thomas C., Mazur, Paul, McCarty, Alexandra J., McCray, Alexa T., Metz, Thomas O., Moretti, Paolo M., Murphy, Jennifer L., Muzny, Donna M., Nehrebecky, Michele E., Pallais, J. Carl, Palmer, Christina G.S., Pena, Loren D.M., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Schoch, Kelly, Scott, Daryl A., Sharma, Prashant, Soldatos, Ariane G., Splinter, Kimberly, Strong, Kimberly A., Sullivan, Jennifer A., Sweetser, David A., Thomas, Sara P., Tift, Cynthia J., Tolman, Nathanial J., Toro, Camilo, Vilain, Eric, Walley, Nicole M., Webb-Robertson, Bobbie-Jo M., Weech, Alec A., Westerfield, Monte, Wheeler, Matt T., Yamamoto, Shinya, Yang, Yaping, Zornio, Patricia A., Yamamoto, Shinya, Malicdan, May Christine V.

Get full text

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder by 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.

Get full text

Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region by 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.

Get full text

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

Get full text

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.

Get full text

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

Get full text