Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LRP6: 1406C>T; Pro469Leu

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM5_ESM.xlsx, sheet 4
• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Journal Of Personalized Medicine

Lee, Yejin Y; Chae, Wonseon W; Kim, Youn Jung YJ; Kim, Jung-Wook JW

Publication Date: 2022-08-29

Variant appearance in text: LRP6: 1406C>T; Pro469Leu

PubMed Link: 36143186

Variant Present in the following documents:

• jpm-12-01401.pdf

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Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

Npj Genomic Medicine

Zhang, Liutao L; Yu, Miao M; Sun, Kai K; Fan, Zhuangzhuang Z; Liu, Haochen H; Feng, Hailan H; Liu, Yang Y; Han, Dong D

Publication Date: 2021-11-10

Variant appearance in text: LRP6: Pro469Leu

PubMed Link: 34759310

Variant Present in the following documents:

• Main text
• 41525_2021_262_MOESM1_ESM.pdf
• 41525_2021_262_MOESM2_ESM.pdf
• 41525_2021_Article_262.pdf

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Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

Frontiers In Genetics

Huang, Yan-Xia YX; Gao, Chun-Yan CY; Zheng, Chun-Yan CY; Chen, Xu X; Yan, You-Sheng YS; Sun, Yong-Qing YQ; Dong, Xing-Yue XY; Yang, Kai K; Zhang, Dong-Liang DL

Publication Date: 2021

Variant appearance in text: LRP6: 1406C>T; P469L

PubMed Link: 34306029

Variant Present in the following documents:

• Main text
• fgene-12-688241.pdf

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ockeloen, Charlotte W CW; Khandelwal, Kriti D KD; Dreesen, Karoline K; Ludwig, Kerstin U KU; Sullivan, Robert R; van Rooij, Iris A L M IALM; Thonissen, Michelle M; Swinnen, Steven S; Phan, Milien M; Conte, Federica F; Ishorst, Nina N; Gilissen, Christian C; RoaFuentes, Laury L; van de Vorst, Maartje M; Henkes, Arjen A; Steehouwer, Marloes M; van Beusekom, Ellen E; Bloemen, Marjon M; Vankeirsbilck, Bruno B; Bergé, Stefaan S; Hens, Greet G; Schoenaers, Joseph J; Poorten, Vincent Vander VV; Roosenboom, Jasmien J; Verdonck, An A; Devriendt, Koen K; Roeleveldt, Nel N; Jhangiani, Shalini N SN; Vissers, Lisenka E L M LELM; Lupski, James R JR; de Ligt, Joep J; Von den Hoff, Johannes W JW; Pfundt, Rolph R; Brunner, Han G HG; Zhou, Huiqing H; Dixon, Jill J; Mangold, Elisabeth E; van Bokhoven, Hans H; Dixon, Michael J MJ; Kleefstra, Tjitske T; Hoischen, Alexander A; Carels, Carine E L CEL

Publication Date: 2016-11

Variant appearance in text: LRP6: 1406C>T; Pro469Leu

PubMed Link: 26963285

Variant Present in the following documents:

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