Literature DB >> 30290155

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R F Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia A L Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet.   

Abstract

Entities:  

Year:  2018        PMID： 30290155      PMCID： PMC6174321          DOI： 10.1016/j.ajhg.2018.09.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  2 in total

1.  Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

Authors:  Wenshu XiangWei; Varun Kannan; Yuchen Xu; Gabrielle J Kosobucki; Anthony J Schulien; Hirofumi Kusumoto; Christelle Moufawad El Achkar; Subhrajit Bhattacharya; Gaetan Lesca; Sylvie Nguyen; Katherine L Helbig; Jean-Marie Cuisset; Christina Dühring Fenger; Dragan Marjanovic; Elisabeth Schuler; Ye Wu; Xinhua Bao; Yuehua Zhang; Nina Dirkx; An-Sofie Schoonjans; Steffen Syrbe; Scott J Myers; Annapurna Poduri; Elias Aizenman; Stephen F Traynelis; Johannes R Lemke; Hongjie Yuan; Yuwu Jiang
Journal:  Brain       Date:  2019-10-01       Impact factor: 13.501

2.  CNV Detection from Exome Sequencing Data in Routine Diagnostics of Rare Genetic Disorders: Opportunities and Limitations.

Authors:  Beryl Royer-Bertrand; Katarina Cisarova; Florence Niel-Butschi; Laureane Mittaz-Crettol; Heidi Fodstad; Andrea Superti-Furga
Journal:  Genes (Basel)       Date:  2021-09-16       Impact factor: 4.096
  2 in total

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