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by Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Callens, Steven and Coucke, Paul and Dermaut, Bart and Hemelsoet, Dimitri and Poppe, Bruce and Steyaert, Wouter and Terryn, Wim and Van Coster, Rudy and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and ... and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Undiagnosed Dis Network and Program Undiagnosed Dis UD-PrOZA
American journal of human genetics, ISSN 0002-9297, 08/2018, Volume 103, Issue 2, pp. 245 - 260
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP family of transcriptional regulators. Currently the biological... 
CG11138 | ataxia | Drosophila | neurodegeneration | seizures | C3HC4 RING finger | developmental regression | pits | EAP1 | hypotonia | RECURRENT DE-NOVO | TRANSGENESIS | PROTEIN | UNDIAGNOSED DISEASES NETWORK | GENE | GENETICS & HEREDITY | ADRENOLEUKODYSTROPHY | MUTATIONS | EXPRESSION | DROSOPHILA | Physiological aspects | Nervous system | Development and progression | Genetic aspects | Degeneration | Research | Binding proteins
Journal Article
by Oláhová, Monika and Yoon, Wan Hee and Thompson, Kyle and Jangam, Sharayu and Fernandez, Liliana and Davidson, Jean M and Kyle, Jennifer E and Grove, Megan E and Fisk, Dianna G and Kohler, Jennefer N and Holmes, Matthew and Dries, Annika M and Huang, Yong and Zhao, Chunli and Contrepois, Kévin and Zappala, Zachary and Frésard, Laure and Waggott, Daryl and Zink, Erika M and Kim, Young-Mo and Heyman, Heino M and Stratton, Kelly G and Webb-Robertson, Bobbie-Jo M and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Kohane, Isaac S and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Diseases Network and Pacific Northwest National Lab. (PNNL), Richland, WA (United States)
American journal of human genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 494 - 504
Journal Article
Nature communications, ISSN 2041-1723, 2019, Volume 10, Issue 1, pp. 5659 - 1
...Author Correction: Highly efficient multiplex human T cell engineering without double-strand breaks using Cas9 base editors Beau R. Webber , Cara-lin Lonetree... 
Lymphocytes | Editors | Lymphocytes T
Journal Article
2016, ISBN 0323263127, ix, 218
Forensic psychology is where psychology meets the criminal justice system. An understanding of the intersection of criminal law and psychological issues... 
Forensic psychology | Criminology and Criminal Justice | Criminal Justice | Criminal law
Book
Frontiers in physiology, ISSN 1664-042X, 02/2017, Volume 8, p. 96
Journal Article
by Shashi, Vandana and Pena, Loren D.M and Kim, Katherine and Burton, Barbara and Hempel, Maja and Schoch, Kelly and Walkiewicz, Magdalena and McLaughlin, Heather M and Cho, Megan and Stong, Nicholas and Hickey, Scott E and Shuss, Christine M and Freemark, Michael S and Bellet, Jane S and Keels, Martha Ann and Bonner, Melanie J and El-Dairi, Maysantoine and Butler, Megan and Kranz, Peter G and Stumpel, Constance T.R.M and Klinkenberg, Sylvia and Oberndorff, Karin and Alawi, Malik and Santer, Rene and Petrovski, Slavé and Kuismin, Outi and Korpi-Heikkilä, Satu and Pietilainen, Olli and Aarno, Palotie and Kurki, Mitja I and Hoischen, Alexander and Need, Anna C and Goldstein, David B and Kortüm, Fanny and Bacino, A and Lee, Brendan H and Balasubramanyam, Ashok and Burrage, Lindsay C and Clark, Gary D and Craigen, William J and Dhar, Shweta U and Emrick, Lisa T and Graham, Brett H and Jain, Mahim and Lalani, Seema R and Lewis, Richard A and Moretti, Paolo M and Nicholas, Sarah K and Orange, Jordan S and Posey, Jennifer E and Potocki, Lorraine and Rosenfeld, Jill A and Scott, Daryl A and Hanchard, Neil A and Alyssa, Tran A and Mercedes, Alejandro E and Mashid, Azamian S and Bellen, Hugo J and Yamamoto, Shinya and Wangler, Michael F and Westerfield, Monte and Postlethwait, John H and Eng, Christine M and Yang, Yaping and Muzny, Donna M and Ward, Patricia A and Ramoni, Rachel B and McCray, Alexa T and Kohane, Issac S and Holm, Ingrid A and Might, Matthew and Mazur, Paul and Splinter, Kimberly and Esteves, Cecilia and Jiang, Yong-hui and McConkie-Rosell, Allyn and Spillmann, Rebecca C and Sullivan, Jennifer A and Walley, Nicole M and Beggs, Alan H and Loscalzo, Joseph and MacRae, Calum A and Silverman, Edwin K and Stoler, Joan M and Sweetser, David A and Maas, Richard L and Krier, Joel B and Rodan, Lance H and Walsh, Chris A and Cooper, Cynthia M and Pallais, Juan C and Donnell-Fink, Laurel A and Krieg, Elizabeth L and Lincoln, Sharyn A and Briere, Lauren C and Jacob, Howard J and Worthey, Elizabeth A and Lazar, Joe and Strong, Kim A and Handley, Lori H and ... and Undiagnosed Diseases Network and Undiagnosed Dis Network
American journal of human genetics, ISSN 0002-9297, 2016, Volume 99, Issue 4, pp. 991 - 999
The ASXL genes (ASXL1, ASXL2, and ASXL3) participate in body patterning during embryogenesis and encode proteins involved in epigenetic regulation and assembly... 
developmental delay | macrocephaly | glabellar nevus flammeus | whole-exome sequencing | intellectual disability | ASXL2 | INTELLECTUAL DISABILITY | BOHRING-OPITZ SYNDROME | GENOMICS | GENES | GENETICS & HEREDITY | HOMOLOG | MUTATIONS | RECIPROCAL REGULATION | FAMILY | Genetic variation | Health aspects | Phenotype
Journal Article
by Dennis, Martin and Cranswick, G and Fraser, A and Graham, C and Grant, S and Gunkel, A and Hunter, J and MacRae, A and Perry, D and Williamson, A and Dennis, M and Sandercock, P.A.G and Graham, C and Murray, G and Venables, G and Bowler, G and Cranswick, G and Dennis, M and Graham, C and Lewis, S and Murray, G and Reid, J and Rudd, A and Sandercock, P.A.G and Venables, G and Celani, M.G and Ricci, S and Lindley, R and Hautvast, M and Paterson, M and Reid, J and Bamford, J and Lindley, R and Romerosa, M and Royan, A and Russell, M and Boers, P and Claxton, A and Hankey, G and Gubitz, G and Jarrett, J and Legg, K and MacKay, M and Nearing, S and Phillips, S and Ehler, E and Geier, P and Mrklovský, M and Anandan, A.M and Rosario, J and Roy, A.K and Duff, C and Masterson, L and Morris, J and Crowe, M and Noone, I and Fancello, M.A and Parish, L.D and Pileri, P and Pinna, M and Scodino, C and Zedde, M.L and Bondo, V and Capecchi, D and Celani, M.G and Cupella, S and Macchitella, A and Ottaviani, C and Righetti, E and Rossi, C and Tufi, A and Barilaro, A and Dioguardi, S and Gallinella, E and Greco, L and Mattioni, A and Mazzoli, T and Ricci, S and Procaccianti, G and Beccu, P and Musselli, M.A and Traccis, S and Grasselli, G.S and Rasura, M and Chiarandini, S and Chiodo Grandi, F and Zugna, L and Stefanucci, S and Canhão, P and Melo, T.P and Eadie, E and Keir, S and Smith, L and Taylor, P and Thomas, A and Wardlaw, J and Anthony, J and Boynes, A and Clough, R and Colabella, C and ... and unav and The CLOTS Trials Collaboration and CLOTS Trials Collaboration
The Lancet (British edition), ISSN 0140-6736, 2009, Volume 373, Issue 9679, pp. 1958 - 1965
Journal Article
Journal of the history of medicine and allied sciences, ISSN 0022-5045, 2020, Volume 75, Issue 2, pp. 237 - 239
Journal Article
by Ramoni, Rachel B and Mulvihill, John J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernick, David and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brownstein, Catherine A and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chao, Katherine R and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eastwood, Rachel and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary “Gracie” G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Iglesias, Brenda and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Brendan H and ... and Undiagnosed Diseases Network and Undiag Dis Network
American journal of human genetics, ISSN 0002-9297, 02/2017, Volume 100, Issue 2, pp. 185 - 192
Journal Article