Search Results - "Anthony Antonellis"

Atypical Presentation of IARS1‐Related Disorder: Expanding the Phenotype and Genotype

Parith Wongkittichote, Kira E. Jonatzke, Benjamin T. Hyde, Lance W. Peterson, Mai He, Robert C. McKinstry, Anthony Antonellis, Marwan Shinawi

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Loss‐of‐Function CARS1 Variants in a Patient With Microcephaly, Developmental Delay, and a Brittle Hair Phenotype

Christina Del Greco, Molly E. Kuo, Desiree E. C. Smith, Marisa I. Mendes, Gajja S. Salamons, Marek Nemcovic, Rebeka Kodrikova, Sergej Sestak, Malina Stancheva, Anthony Antonellis

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A model organism pipeline provides insight into the clinical heterogeneity of TARS1 loss-of-function variants

Rebecca Meyer-Schuman, Allison R. Cale, Jennifer A. Pierluissi, Kira E. Jonatzke, Young N. Park, Guy M. Lenk, Stephanie N. Oprescu, Marina A. Grachtchouk, Andrzej A. Dlugosz, Asim A. Beg, Miriam H. Meisler, Anthony Antonellis

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SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells

Elizabeth A. Fogarty, Jacob O. Kitzman, Anthony Antonellis

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Translatomic analysis of regenerating and degenerating spinal motor neurons in injury and ALS

Jennifer L. Shadrach, Wesley M. Stansberry, Allison M. Milen, Rachel E. Ives, Elizabeth A. Fogarty, Anthony Antonellis, Brian A. Pierchala

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Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph Hersh, Sedat Isikay, Elizabeth Jordan, Ender Karaca, Angela Kecskes, James R. Lupski, Reka Kovacs-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, C4RCD Research Group, AR working group of the EuroEPINOMICS RES Consortium, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

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A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve

William D. Law, Elizabeth A. Fogarty, Aimée Vester, Anthony Antonellis

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Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B. Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N. Jhangiani, Matthew N. Bainbridge, Kim S. Lawson, Davut Pehlivan, Yuji Okamoto, Marjorie Withers, Pedro Mancias, Anne Slavotinek, Pamela J. Reitnauer, Meryem T. Goksungur, Michael Shy, Thomas O. Crawford, Michel Koenig, Jason Willer, Brittany N. Flores, Igor Pediaditrakis, Onder Us, Wojciech Wiszniewski, Yesim Parman, Anthony Antonellis, Donna M. Muzny, Nicholas Katsanis, Esra Battaloglu, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski

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Correction: The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Anthony Antonellis, Yi-Chung Lee

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Charcot-Marie-Tooth-linked mutant GARS is toxic to peripheral neurons independent of wild-type GARS levels.

William W Motley, Kevin L Seburn, Mir Hussain Nawaz, Kathy E Miers, Jun Cheng, Anthony Antonellis, Eric D Green, Kevin Talbot, Xiang-Lei Yang, Kenneth H Fischbeck, Robert W Burgess

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The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Anthony Antonellis, Yi-Chung Lee

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A rare myelin protein zero (MPZ) variant alters enhancer activity in vitro and in vivo.

Anthony Antonellis, Megan Y Dennis, Grzegorz Burzynski, Jimmy Huynh, Valerie Maduro, Chani J Hodonsky, Mehrdad Khajavi, Kinga Szigeti, Sandeep Mukkamala, Seneca L Bessling, William J Pavan, Andrew S McCallion, James R Lupski, Eric D Green, NISC Comparative Sequencing Program

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Identification of neural crest and glial enhancers at the mouse Sox10 locus through transgenesis in zebrafish.

Anthony Antonellis, Jimmy L Huynh, Shih-Queen Lee-Lin, Ryan M Vinton, Gabriel Renaud, Stacie K Loftus, Gene Elliot, Tyra G Wolfsberg, Eric D Green, Andrew S McCallion, William J Pavan

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Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Kumaraswamy Sivakumar, Theodoros Kyriakides, Imke Puls, Garth A. Nicholson, Benoît Funalot, Anthony Antonellis, Nyamkhishig Sambuughin, Kyproula Christodoulou, John L. Beggs, Eleni Zamba-Papanicolaou, Victor Ionasescu, Marinos C. Dalakas, Eric D. Green, Kenneth H. Fischbeck, Lev G. Goldfarb

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