Publications:

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes.

Nature Communications

Akbari, Parsa P; Sosina, Olukayode A OA; Bovijn, Jonas J; Landheer, Karl K; Nielsen, Jonas B JB; Kim, Minhee M; Aykul, Senem S; De, Tanima T; Haas, Mary E ME; Hindy, George G; Lin, Nan N; Dinsmore, Ian R IR; Luo, Jonathan Z JZ; Hectors, Stefanie S; Geraghty, Benjamin B; Germino, Mary M; Panagis, Lampros L; Parasoglou, Prodromos P; Walls, Johnathon R JR; Halasz, Gabor G; Atwal, Gurinder S GS; , ; , ; Jones, Marcus M; LeBlanc, Michelle G MG; Still, Christopher D CD; Carey, David J DJ; Giontella, Alice A; Orho-Melander, Marju M; Berumen, Jaime J; Kuri-Morales, Pablo P; Alegre-Díaz, Jesus J; Torres, Jason M JM; Emberson, Jonathan R JR; Collins, Rory R; Rader, Daniel J DJ; Zambrowicz, Brian B; Murphy, Andrew J AJ; Balasubramanian, Suganthi S; Overton, John D JD; Reid, Jeffrey G JG; Shuldiner, Alan R AR; Cantor, Michael M; Abecasis, Goncalo R GR; Ferreira, Manuel A R MAR; Sleeman, Mark W MW; Gusarova, Viktoria V; Altarejos, Judith J; Harris, Charles C; Economides, Aris N AN; Idone, Vincent V; Karalis, Katia K; Della Gatta, Giusy G; Mirshahi, Tooraj T; Yancopoulos, George D GD; Melander, Olle O; Marchini, Jonathan J; Tapia-Conyer, Roberto R; Locke, Adam E AE; Baras, Aris A; Verweij, Niek N; Lotta, Luca A LA

Publication Date: 2022-08-23

Variant appearance in text: PPARG: 1340C>T; Thr447Met; rs1479145908

PubMed Link: 35999217

Variant Present in the following documents:

• 41467_2022_32398_MOESM4_ESM.xlsx, sheet 4

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A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy.

Journal Of Personalized Medicine

Michelini, Sandro S; Herbst, Karen L KL; Precone, Vincenza V; Manara, Elena E; Marceddu, Giuseppe G; Dautaj, Astrit A; Maltese, Paolo Enrico PE; Paolacci, Stefano S; Ceccarini, Maria Rachele MR; Beccari, Tommaso T; Sorrentino, Elisa E; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Miggiano, Giacinto Abele Donato GAD; Bertelli, Matteo M

Publication Date: 2022-02-11

Variant appearance in text: rs1479145908

PubMed Link: 35207755

Variant Present in the following documents:

• Main text
• jpm-12-00268.pdf

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Differential Effects of Cancer-Associated Mutations Enriched in Helix H3 of PPARγ.

Cancers

Jang, Dong Man DM; Jang, Jun Young JY; Kim, Hyun-Jung HJ; Han, Byung Woo BW

Publication Date: 2020-11-30

Variant appearance in text: PPARG: T447M

PubMed Link: 33266062

Variant Present in the following documents:

• Main text
• cancers-12-03580.pdf

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Genomic Activation of PPARG Reveals a Candidate Therapeutic Axis in Bladder Cancer.

Cancer Research

Goldstein, Jonathan T JT; Berger, Ashton C AC; Shih, Juliann J; Duke, Fujiko F FF; Furst, Laura L; Kwiatkowski, David J DJ; Cherniack, Andrew D AD; Meyerson, Matthew M; Strathdee, Craig A CA

Publication Date: 2017-12-15

Variant appearance in text: PPARG: T447M

PubMed Link: 28923856

Variant Present in the following documents:

• Main text

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