Publications:

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific Reports

Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H

Publication Date: 2021-02-11

Variant appearance in text: APOB: A444V; rs769425660

PubMed Link: 33574475

Variant Present in the following documents:

• 41598_2021_83058_MOESM1_ESM.xlsx, sheet 3

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Recurrent PDGFRB mutations in unicentric Castleman disease.

Leukemia

Li, Zhaoming Z; Lan, Xuan X; Li, Chaoping C; Zhang, Yanjie Y; Wang, Yingjun Y; Xue, Weili W; Lu, Lisha L; Jin, Mengyuan M; Zhou, Zhiyuan Z; Wang, Xinhua X; Li, Ling L; Zhang, Lei L; Li, Xin X; Fu, Xiaorui X; Sun, Zhenchang Z; Wu, Jingjing J; Zhang, Xudong X; Yu, Hui H; Nan, Feifei F; Chang, Yu Y; Yan, Jiaqin J; Wu, Xiaolong X; Wang, Guannan G; Zhang, Dandan D; Zhang, Yuan Y; Young, Ken H KH; Zhang, Mingzhi M

Publication Date: 2019-04

Variant appearance in text: APOB: A444V

PubMed Link: 30607019

Variant Present in the following documents:

• 41375_2018_323_MOESM5_ESM.xls, sheet 2

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs769425660

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: APOB: 1331C>T; A444V

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

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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: APOB: 1331C>T; A444V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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