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Whole exome sequencing

  • Genetic aetiology of early infant deaths in a neonatal intensive care unit
    Lin Yang, Xu Liu, Zixiu Li, Peng Zhang, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Laishuan Wang, Wenhao Zhou
    Journal of Medical Genetics Mar 2020, 57 (3) 169-177; DOI: 10.1136/jmedgenet-2019-106221
  • 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
    Journal of Medical Genetics Oct 2019, 56 (10) 671-677; DOI: 10.1136/jmedgenet-2018-105684
  • Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
    Kazuhiro Iwama, Takeshi Mizuguchi, Eri Takeshita, Eiji Nakagawa, Tetsuya Okazaki, Yoshiko Nomura, Yoshitaka Iijima, Ichiro Kajiura, Kenji Sugai, Takashi Saito, Masayuki Sasaki, Kotaro Yuge, Tomoko Saikusa, Nobuhiko Okamoto, Satoru Takahashi, Masano Amamoto, Ichiro Tomita, Satoko Kumada, Yuki Anzai, Kyoko Hoshino, Aviva Fattal-Valevski, Naohide Shiroma, Masaharu Ohfu, Masaharu Moroto, Koichi Tanda, Tomoko Nakagawa, Takafumi Sakakibara, Shin Nabatame, Muneaki Matsuo, Akiko Yamamoto, Shoko Yukishita, Ken Inoue, Chikako Waga, Yoko Nakamura, Shoko Watanabe, Chihiro Ohba, Toru Sengoku, Atsushi Fujita, Satomi Mitsuhashi, Satoko Miyatake, Atsushi Takata, Noriko Miyake, Kazuhiro Ogata, Shuichi Ito, Hirotomo Saitsu, Toyojiro Matsuishi, Yu-ichi Goto, Naomichi Matsumoto
    Journal of Medical Genetics Jun 2019, 56 (6) 396-407; DOI: 10.1136/jmedgenet-2018-105775
  • Perturbations of BMP/TGF-β and VEGF/VEGFR signalling pathways in non-syndromic sporadic brain arteriovenous malformations (BAVM)
    Kun Wang, Sen Zhao, Bowen Liu, Qianqian Zhang, Yaqi Li, Jiaqi Liu, Yan Shen, Xinghuan Ding, Jiachen Lin, Yong Wu, Zihui Yan, Jia Chen, Xiaoxin Li, Xiaofei Song, Yuchen Niu, Jian Liu, Weisheng Chen, Yue Ming, Renqian Du, Cong Chen, Bo Long, Yisen Zhang, Xiangjun Tong, Shuyang Zhang, Jennifer E Posey, Bo Zhang, Zhihong Wu, Joshua D Wythe, Pengfei Liu, James R Lupski, Xinjian Yang, Nan Wu
    Journal of Medical Genetics Oct 2018, 55 (10) 675-684; DOI: 10.1136/jmedgenet-2017-105224
  • Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy
    Yeshaya Langer, Adi Aran, Suleyman Gulsuner, Bassam Abu Libdeh, Paul Renbaum, Dario Brunetti, Pedro-Filipe Teixeira, Tom Walsh, Sharon Zeligson, Roberta Ruotolo, Rachel Beeri, Imad Dweikat, Maher Shahrour, Ariella Weinberg-Shukron, Fouad Zahdeh, Enrico Baruffini, Elzbieta Glaser, Mary-Claire King, Ephrat Levy-Lahad, Massimo Zeviani, Reeval Segel
    Journal of Medical Genetics Sep 2018, 55 (9) 599-606; DOI: 10.1136/jmedgenet-2018-105330
  • Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy
    Ilse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, Friederike Körber, Jörg Dötsch, Holger Thiele, Janine Altmüller, Peter Nürnberg, Christoph Hünseler, Sebahattin Cirak
    Journal of Medical Genetics Sep 2018, 55 (9) 637-640; DOI: 10.1136/jmedgenet-2018-105262
  • Diagnostic strategy in segmentation defect of the vertebrae: a retrospective study of 73 patients
    Mathilde Lefebvre, Anne Dieux-Coeslier, Geneviève Baujat, Elise Schaefer, Saint-Onge Judith, Anne Bazin, Lucile Pinson, Tania Attie-Bitach, Clarisse Baumann, Melanie Fradin, Genevieve Pierquin, Sophie Julia, Chloé Quélin, Bérénice Doray, Sylvie Berg, Catherine Vincent-Delorme, Laetitia Lambert, Nadine Bachmann, Didier Lacombe, Bertrand Isidor, Nicole Laurent, Roume Joelle, Patricia Blanchet, Sylvie Odent, Dominique Kervran, Nathalie Leporrier, Carine Abel, Karine Segers, Fabienne Guiliano, Emmanuelle Ginglinger-Fabre, Angelo Selicorni, Alice Goldenberg, Salima El Chehadeh, Christine Francannet, Benedicte Demeer, Yannis Duffourd, Christel Thauvin-Robinet, Alain Verloes, Valerie Cormier-Daire, Jean Baptiste Riviere, Laurence Faivre, Julien Thevenon
    Journal of Medical Genetics Jun 2018, 55 (6) 422-429; DOI: 10.1136/jmedgenet-2017-104939
  • Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
    Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-François Deleuze, Anne Boland, Vincent Meyer, Robert Olaso, Emmanuelle Ginglinger, DDD Study, Jean-Baptiste Rivière, Han G Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon
    Journal of Medical Genetics Dec 2017, 54 (12) 830-835; DOI: 10.1136/jmedgenet-2017-104748
  • Comprehensive somatic genome alterations of urachal carcinoma
    Seungchul Lee, Jingu Lee, Sung Hoon Sim, Yeonghun Lee, Kyung Chul Moon, Cheol Lee, Woong-Yang Park, Nayoung KD Kim, Se-Hoon Lee, Hyunju Lee
    Journal of Medical Genetics Aug 2017, 54 (8) 572-578; DOI: 10.1136/jmedgenet-2016-104390
  • Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation
    Lisa Mirabello, Payal P Khincha, Steven R Ellis, Neelam Giri, Seth Brodie, Settara C Chandrasekharappa, Frank X Donovan, Weiyin Zhou, Belynda D Hicks, Joseph F Boland, Meredith Yeager, Kristine Jones, Bin Zhu, Mingyi Wang, Blanche P Alter, Sharon A Savage
    Journal of Medical Genetics Jun 2017, 54 (6) 417-425; DOI: 10.1136/jmedgenet-2016-104346

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