PMC Links for Nucleotide (Select 1652882881) - PMC

Select item 65042271.

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

Thomas K Creson, Camilo Rojas, Ernie Hwaun, Thomas Vaissiere, Murat Kilinc, Andres Jimenez-Gomez, Jimmy Lloyd Holder, Jr, Jianrong Tang, Laura L Colgin, Courtney A Miller, Gavin Rumbaugh

eLife. 2019; 8: e46752. Published online 2019 Apr 26. doi: 10.7554/eLife.46752

PMCID:: PMC6504227

Article PDF–2.2M

Select item 63403402.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

Danique R.M. Vlaskamp, Benjamin J. Shaw, Rosemary Burgess, Davide Mei, Martino Montomoli, Han Xie, Candace T. Myers, Mark F. Bennett, Wenshu XiangWei, Danielle Williams, Saskia M. Maas, Alice S. Brooks, Grazia M.S. Mancini, Ingrid M.B.H. van de Laar, Johanna M. van Hagen, Tyson L. Ware, Richard I. Webster, Stephen Malone, Samuel F. Berkovic, Renate M. Kalnins, Federico Sicca, G. Christoph Korenke, Conny M.A. van Ravenswaaij-Arts, Michael S. Hildebrand, Heather C. Mefford, Yuwu Jiang, Renzo Guerrini, Ingrid E. Scheffer

Neurology. 2019 Jan 8; 92(2): e96–e107. doi: 10.1212/WNL.0000000000006729

Correction in:: Neurology. 2019 Nov 12; 93(20): 908.

PMCID:: PMC6340340

Article PDF–1.3M

Select item 58791013.

Complement Receptor 3-Mediated Inhibition of Inflammasome Priming by Ras GTPase-Activating Protein During Francisella tularensis Phagocytosis by Human Mononuclear Phagocytes

Ky V. Hoang, Murugesan V. S. Rajaram, Heather Marie Curry, Mikhail A. Gavrilin, Mark D. Wewers, Larry S. Schlesinger

Front Immunol. 2018; 9: 561. Published online 2018 Mar 26. doi: 10.3389/fimmu.2018.00561

PMCID:: PMC5879101

Article PDF–1.5M

Select item 37041574.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L. Carvill, Sinéad B. Heavin, Simone C. Yendle, Jacinta M. McMahon, Brian J. O’Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann M. E. Bye, Andrew Bleasel, Katherine B. Howell, Sara Kivity, Mark T. Mackay, Victoria Rodriguez-Casero, Richard Webster, Amos Korczyn, Zaid Afawi, Nathanel Zelnick, Tally Lerman-Sagie, Dorit Lev, Rikke S. Møller, Deepak Gill, Danielle M. Andrade, Jeremy L. Freeman, Lynette G. Sadleir, Jay Shendure, Samuel F. Berkovic, Ingrid E. Scheffer, Heather C. Mefford

Nat Genet. Author manuscript; available in PMC 2014 Jan 1.

Published in final edited form as: Nat Genet. 2013 Jul; 45(7): 825–830. Published online 2013 May 26. doi: 10.1038/ng.2646

PMCID:: PMC3704157

Article PDF–667K

Select item 67532185.

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim

Front Neurol. 2019; 10: 988. Published online 2019 Sep 13. doi: 10.3389/fneur.2019.00988

PMCID:: PMC6753218

Article PDF–761K

Select item 66607006.

A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing

Ye Cao, Mari J. Tokita, Edward S. Chen, Rajarshi Ghosh, Tiansheng Chen, Yanming Feng, Elizabeth Gorman, Federica Gibellini, Patricia A. Ward, Alicia Braxton, Xia Wang, Linyan Meng, Rui Xiao, Weimin Bi, Fan Xia, Christine M. Eng, Yaping Yang, Tomasz Gambin, Chad Shaw, Pengfei Liu, Pawel Stankiewicz

Genome Med. 2019; 11: 48. Published online 2019 Jul 26. doi: 10.1186/s13073-019-0658-2

PMCID:: PMC6660700

Article PDF–980K

Select item 61259907.

Novel and de novo mutations in pediatric refractory epilepsy

Jing Liu, Lili Tong, Shuangshuang Song, Yue Niu, Jun Li, Xiu Wu, Jie Zhang, Celement C. Zai, Fang Luo, Jian Wu, Haiyin Li, Albert H. C. Wong, Ruopeng Sun, Fang Liu, Baomin Li

Mol Brain. 2018; 11: 48. Published online 2018 Sep 5. doi: 10.1186/s13041-018-0392-5

Correction in:: Mol Brain. 2018; 11: 59.

PMCID:: PMC6125990

Article PDF–980K

Select item 56130008.

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Silvia Vidal, Núria Brandi, Paola Pacheco, Edgar Gerotina, Laura Blasco, Jean-Rémi Trotta, Sophia Derdak, Maria del Mar O’Callaghan, Àngels Garcia-Cazorla, Mercè Pineda, Judith Armstrong, Rett Working Group

Sci Rep. 2017; 7: 12288. Published online 2017 Sep 25. doi: 10.1038/s41598-017-11620-3

Correction in:: Sci Rep. 2021; 11: 18146.

PMCID:: PMC5613000

Article PDF–1.1M

Select item 49402339.

Identification of intellectual disability genes in female patients with a skewed X inactivation pattern

Nathalie Fieremans, Hilde Van Esch, Maureen Holvoet, Gert Van Goethem, Koen Devriendt, Monica Rosello, Sonia Mayo, Francisco Martinez, Shalini Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski, Joris R. Vermeesch, Peter Marynen, Guy Froyen

Hum Mutat. Author manuscript; available in PMC 2017 Aug 1.

Published in final edited form as: Hum Mutat. 2016 Aug; 37(8): 804–811. Published online 2016 May 25. doi: 10.1002/humu.23012

PMCID:: PMC4940233

Article PDF–114K

Select item 353079410.

A Pilot Study Comparing HPV-Positive and HPV-Negative Head and Neck Squamous Cell Carcinomas by Whole Exome Sequencing

Anthony C. Nichols, Michelle Chan-Seng-Yue, John Yoo, Wei Xu, Sandeep Dhaliwal, John Basmaji, Christopher C. T. Szeto, Samuel Dowthwaite, Biljana Todorovic, Maud H. W. Starmans, Philippe Lambin, David A. Palma, Kevin Fung, Jason H. Franklin, Bret Wehrli, Keith Kwan, James Koropatnick, Joe S. Mymryk, Paul Boutros, John W. Barrett

ISRN Oncol. 2012; 2012: 809370. Published online 2012 Dec 12. doi: 10.5402/2012/809370

PMCID:: PMC3530794

Article PDF–2.4M

Select item 292526211.

Mutations in SYNGAP1 in Autosomal Nonsyndromic Mental Retardation

Fadi F. Hamdan, Julie Gauthier, Dan Spiegelman, Anne Noreau, Yan Yang, Stéphanie Pellerin, Sylvia Dobrzeniecka, Mélanie Côté, Elizabeth Perreau-Linck, Lionel Carmant, Guy D’Anjou, Éric Fombonne, Anjene M. Addington, Judith L. Rapoport, Lynn E. Delisi, Marie-Odile Krebs, Faycal Mouaffak, Ridha Joober, Laurent Mottron, Pierre Drapeau, Claude Marineau, Ronald G. Lafrenière, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

N Engl J Med. Author manuscript; available in PMC 2010 Aug 23.

Published in final edited form as: N Engl J Med. 2009 Feb 5; 360(6): 599–605. doi: 10.1056/NEJMoa0805392

Correction in:: volume 361 on page 1814

PMCID:: PMC2925262

Article PDF–1.0M

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