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Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome gan Eleonora Napoli, Flora Tassone, Sarah Wong, Kathleen Angkustsiri, Tony J. Simon, Gyu‐Yong Song, Cecilia Giulivi

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Chemotherapy-Induced Apoptosis in a Transgenic Model of Neuroblastoma Proceeds Through p53 Induction gan Louis Chesler, David Goldenberg, Rodney Collins, Matthew Grimmer, Grace Kim, Tarık Tihan, Kim Nguyễn, Slava Yakovenko, Katherine K. Matthay, William A. Weiss

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Mutation and Methylation Analysis of the Chromodomain-Helicase-DNA Binding 5 Gene in Ovarian Cancer gan Kylie L. Gorringe, David Y.H. Choong, Louise H. Williams, Manasa Ramakrishna, Anita Sridhar, Wen Qiu, Jennifer L. Bearfoot, Ian Campbell

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Phelan McDermid Syndrome gan Hala Harony‐Nicolas, Silvia De Rubeis, Alexander Kolevzon, Joseph D. Buxbaum

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Loss-of-function variants in HIVEP2 are a cause of intellectual disability gan Siddharth Srivastava, Hartmut Engels, Ina Schanze, Kirsten Cremer, Thomas Wieland, Moritz Menzel, Max Schubach, Saskia Biskup, Martina Kreiß, Sabine Endele, Tim M. Strom, Dagmar Wieczorek, Martin Zenker, Siddharth Gupta, Julie S. Cohen, Alexander M. Zink, Sakkubai Naidu

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The Progranulin Cleavage Products, Granulins, Exacerbate TDP-43 Toxicity and Increase TDP-43 Levels gan Dominique A Salazar, Victoria Butler, Andrea R. Argouarch, Tsung-Yuan Hsu, Amanda R. Mason, Ayumi Nakamura, Helen McCurdy, David Cox, Raymond T. Ng, Guangtang Pan, William W. Seeley, Bruce L. Miller, Aimee W. Kao

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The paradoxical TGF-β vasculopathies gan Rosemary J. Akhurst

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DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies gan Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julián A. Martínez-Agosto, Natalia Gomez‐Ospina, Natalie M. Gallant, Jonathan A. Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka‐Kowalnik, Michelle Fox, Joshua L. Deignan, Éric Vilain, Emily Hendricks, Margaret Harr, Sarah E. Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H. Zackai, Ian D. Krantz, A. Micheil Innes, Stanley F. Nelson, Wayne W. Grody, Fabiola Quintero‐Rivera

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OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency gan Steven B. Marston, Cécile Montgiraud, Alex B. Munster, O’Neal Copeland, Onjee Choi, Cristobal G. dos Remedios, Andrew E. Messer, Elisabeth Ehler, Ralph Knöll

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A Novel Mutation in IFN-γ Receptor 2 with Dominant Negative Activity: Biological Consequences of Homozygous and Heterozygous States gan Sergio D. Rosenzweig, Susan E. Dorman, Gülbû Uzel, Stephen Shaw, Amy M. Scurlock, Margaret R. Brown, Rebecca H. Buckley, Steven M. Holland

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Tbx5 and Osr1 interact to regulate posterior second heart field cell cycle progression for cardiac septation gan Lun Zhou, Jielin Liu, Patrick Olson, Ke Zhang, Joshua Wynne, Linglin Xie

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Krüppel-like factor 1: hematologic phenotypes associated with<i>KLF1</i>gene mutations gan John S. Waye, Barry Eng

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HIRA, a mammalian homologue of Saccharomyces cerevisiae transcriptional co-repressors, interacts with Pax3 gan Paola Magnaghi, Catherine Roberts, Stéphanie Lorain, Marc Lipinski, Peter Scambler

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<i>Rbm8a</i>Haploinsufficiency Disrupts Embryonic Cortical Development Resulting in Microcephaly gan Hanqian Mao, Louis‐Jan Pilaz, John J. McMahon, Christelle Golzio, Danwei Wu, Lei Shi, Nicholas Katsanis, Debra L. Silver

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Episodic Ataxia Mutations in Kv1.1 Alter Potassium Channel Function by Dominant Negative Effects or Haploinsufficiency gan Patricia Zerr, John P. Adelman, James Maylie

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Variable epilepsy phenotypes associated with a familial intragenic deletion of the <i>SCN1A</i> gene gan Renzo Guerrini, Elena Cellini, Davide Mei, Tiziana Metitieri, Cristina Petrelli, Daniela Pucatti, Carla Marini, Nelia Zamponi

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Identificação de deleções do gene SHOX: comparação das técnicas de FISH, análise de microssatélites e MLPA gan Mariana Ferreira de Assis Funari

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Progranulin in frontotemporal lobar degeneration and neuroinflammation gan Zeshan Ahmed, Ian R. Mackenzie, Michael Hutton, Dennis W. Dickson

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Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators gan Lara J. Duffney, Ping Zhong, Jing Wei, Emmanuel Matas, Jia Cheng, Luye Qin, Kaijie Ma, David Dietz, Yuji Kajiwara, Joseph D. Buxbaum, Zhen Yan

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The Effect of Peripherin/rds Haploinsufficiency on Rod and Cone Photoreceptors gan Tong Cheng, Neal S. Peachey, Shihong Li, Yoshinobu Goto, Yun Cao, Muna I. Naash

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