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Death and legal fictions

Seema K Shah, Robert D Truog, Franklin G Miller

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Patricia L Weng, Amar J Majmundar, Kamal Khan, Tze Y Lim, Shirlee Shril, Gina Jin, John Musgrove, Minxian Wang, Dina F Ahram, Vimla S Aggarwal, Louise E Bier, Erin L Heinzen, Ana C Onuchic-Whitford, Nina Mann, Florian Buerger, Ronen Schneider, Konstantin Deutsch, Thomas M Kitzler, Verena Klämbt, Amy Kolb, Youying Mao, Christelle Moufawad El Achkar, Adele Mitrotti, Jeremiah Martino, Bodo B Beck, Janine Altmüller, Marcus R Benz, Shoji Yano, Mohamad A Mikati, Talha Gunduz, Heidi Cope, Vandana Shashi, Howard Trachtman, Monica Bodria, Gianluca Caridi, Isabella Pisani, Enrico Fiaccadori, Asmaa S AbuMaziad, Julian A Martinez-Agosto, Ora Yadin, Jonathan Zuckerman, Arang Kim, Ulrike John-Kroegel, Amanda V Tyndall, Jillian S Parboosingh, A Micheil Innes, Agnieszka Bierzynska, Ania B Koziell, Mordi Muorah, Moin A Saleem, Julia Hoefele, Korbinian M Riedhammer, Ali G Gharavi, Vaidehi Jobanputra, Emma Pierce-Hoffman, Eleanor G Seaby, Anne O'Donnell-Luria, Heidi L Rehm, Shrikant Mane, Vivette D D'Agati, Martin R Pollak, Gian Marco Ghiggeri, Richard P Lifton, David B Goldstein, Erica E Davis, Friedhelm Hildebrandt, Simone Sanna-Cherchi

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype

Vandana Shashi, Loren D M Pena, Katherine Kim, Barbara Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M McLaughlin, Megan Cho, Nicholas Stong, Scott E Hickey, Christine M Shuss, Michael S Freemark, Jane S Bellet, Martha Ann Keels, Melanie J Bonner, Maysantoine El-Dairi, Megan Butler, Peter G Kranz, Constance T R M Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, Rene Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietilainen, Palotie Aarno, Mitja I Kurki, Alexander Hoischen, Anna C Need, David B Goldstein, Fanny Kortüm

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome

Lindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, Jason R Willer, Erica E Davis, Dorien Lugtenberg, Wenmiao Zhu, Magalie S Leduc, Zeynep C Akdemir, Mahshid Azamian, Gladys Zapata, Patricia P Hernandez, Jeroen Schoots, Sonja A de Munnik, Ronald Roepman, Jillian N Pearring, Shalini Jhangiani, Nicholas Katsanis, Lisenka E L M Vissers, Han G Brunner, Arthur L Beaudet, Jill A Rosenfeld, Donna M Muzny, Richard A Gibbs, Christine M Eng, Fan Xia, Seema R Lalani, James R Lupski, Ernie M H F Bongers, Yaping Yang

De-N-acetyl GM3 Promotes Melanoma Cell Migration and Invasion through Urokinase Plasminogen Activator Receptor Signaling–Dependent MMP-2 Activation

Ji-Wei Liu, Ping Sun, Qiu Yan, Amy S Paller, Pedram Gerami, Nancy Ho, Neelam Vashi, I Caroline Le Poole, Xiao-qi Wang

De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy.

Sakshi Singh, Aditi Gupta, Michael Zech, Ashley N Sigafoos, Karl J Clark, Yasemin Dincer, Matias Wagner, Jennifer B Humberson, Sarah Green, Koen van Gassen, Tracy Brandt, Rhonda E Schnur, Francisca Millan, Yue Si, Volker Mall, Juliane Winkelmann, Ralitza H Gavrilova, Eric W Klee, Kendra Engleman, Nicole P Safina, Rachel Slaugh, Emily M Bryant, Wen-Hann Tan, Jorge Granadillo, Sunita N Misra, G Bradley Schaefer, Shelley Towner, Eva H Brilstra, Bobby P C Koeleman

Deacetylated GM3 promotes uPAR-associated membrane molecular complex to activate p38 MAPK in metastatic melanoma.

Qiu Yan, Daniel Q Bach, Nandita Gatla, Ping Sun, Ji-Wei Liu, Jian-Yun Lu, Amy S Paller, Xiao-Qi Wang

DDX58 Is Associated With Susceptibility to Severe Influenza Virus Infection in Children and Adolescents.

DDX58(RIG-I)-related disease is associated with tissue-specific interferon pathway activation.

De novo suprasellar arachnoid cyst: case report and review of the literature.

Darbi Invergo, Tadanori Tomita

Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children

Zhao Yang, Colin J McMahon, Liana R Smith, Jeathrina Bersola, Adekunle M Adesina, John P Breinholt, Debra L Kearney, William J Dreyer, Susan W Denfield, Jack F Price, Michelle Grenier, Naomi J Kertesz, Sarah K Clunie, Susan D Fernbach, James F Southern, Stuart Berger, Jeffrey A Towbin, Karla R Bowles, Neil E Bowles

Damage extent and predictors in adult and juvenile dermatomyositis and polymyositis as determined with the myositis damage index.

Lisa G Rider, Peter A Lachenbruch, Jason B Monroe, Angelo Ravelli, Imelda Cabalar, Brian M Feldman, Maria L Villalba, Barry L Myones, Lauren M Pachman, Robert M Rennebohm, Ann M Reed, Frederick W Miller