Online First

September 13, 2019

September 12, 2019

September 11, 2019

September 10, 2019

September 09, 2019

September 07, 2019

September 06, 2019

September 04, 2019

August 31, 2019

August 26, 2019

  • Copy-number variation
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice
    Aia Elise Jønch, Elise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurelie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne-Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke Steensbjerre Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch-Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont on behalf of 15q11.2 Working Group

August 24, 2019

August 22, 2019

August 14, 2019

August 07, 2019

July 31, 2019

July 30, 2019

July 12, 2019

July 11, 2019

June 19, 2019

June 17, 2019

  • Diagnostics
    Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
    Yoshito Koyanagi, Masato Akiyama, Koji M Nishiguchi, Yukihide Momozawa, Yoichiro Kamatani, Sadaaki Takata, Chihiro Inai, Yusuke Iwasaki, Mikako Kumano, Yusuke Murakami, Kazuko Omodaka, Toshiaki Abe, Shiori Komori, Dan Gao, Toshiaki Hirakata, Kentaro Kurata, Katsuhiro Hosono, Shinji Ueno, Yoshihiro Hotta, Akira Murakami, Hiroko Terasaki, Yuko Wada, Toru Nakazawa, Tatsuro Ishibashi, Yasuhiro Ikeda, Michiaki Kubo, Koh-Hei Sonoda

June 12, 2019

  • Vision science
    TNFRSF21 mutations cause high myopia
    Hong Pan, Shijing Wu, Jing Wang, Tian Zhu, Tengyan Li, Bo Wan, Beihong Liu, Yan Luo, Xu Ma, Ruifang Sui, Binbin Wang

June 11, 2019

June 05, 2019

May 31, 2019

May 04, 2019

May 02, 2019

April 30, 2019

April 25, 2019

April 24, 2019

April 19, 2019

April 13, 2019

March 15, 2019

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