Publications:

Dysregulation of neuron differentiation in an autistic savant with exceptional memory.

Molecular Brain

Song, Jinjing J; Yang, Xiujuan X; Zhou, Ying Y; Chen, Lei L; Zhang, Xu X; Liu, Zhuxi Z; Niu, Weibo W; Zhan, Nengpeng N; Fan, Xuelian X; Khan, Abdul Aziz AA; Kuang, Yifang Y; Song, Lulu L; He, Guang G; Li, Weidong W

Publication Date: 2019-11-07

Variant appearance in text: VCAN: E702K; rs201590497

PubMed Link: 31699123

Variant Present in the following documents:

• 13041_2019_507_MOESM1_ESM.xlsx, sheet 2

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: VCAN: 2104G>A; E702K

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Whole exome analysis identifies frequent CNGA1 mutations in Japanese population with autosomal recessive retinitis pigmentosa.

Plos One

Katagiri, Satoshi S; Akahori, Masakazu M; Sergeev, Yuri Y; Yoshitake, Kazutoshi K; Ikeo, Kazuho K; Furuno, Masaaki M; Hayashi, Takaaki T; Kondo, Mineo M; Ueno, Shinji S; Tsunoda, Kazushige K; Shinoda, Kei K; Kuniyoshi, Kazuki K; Tsurusaki, Yohinori Y; Matsumoto, Naomichi N; Tsuneoka, Hiroshi H; Iwata, Takeshi T

Publication Date: 2014

Variant appearance in text: rs201590497

PubMed Link: 25268133

Variant Present in the following documents:

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Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: VCAN: E702K

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s10.xls, sheet 1

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