Publications:

Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.

Clinical Epigenetics

Eggermann, Thomas T; Yapici, Elzem E; Bliek, Jet J; Pereda, Arrate A; Begemann, Matthias M; Russo, Silvia S; Tannorella, Pierpaola P; Calzari, Luciano L; de Nanclares, Guiomar Perez GP; Lombardi, Paola P; Temple, I Karen IK; Mackay, Deborah D; Riccio, Andrea A; Kagami, Masayo M; Ogata, Tsutomu T; Lapunzina, Pablo P; Monk, David D; Maher, Eamonn R ER; Tümer, Zeynep Z

Publication Date: 2022-03-16

Variant appearance in text: NLRP5: 68T>A; Val23Asp

PubMed Link: 35296332

Variant Present in the following documents:

• Main text
• 13148_2022_Article_1259.pdf
• 13148_2022_1259_MOESM1_ESM.xlsx, sheet 1
• 13148_2022_1259_MOESM1_ESM.xlsx, sheet 3

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Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

European Journal Of Human Genetics : Ejhg

Soellner, Lukas L; Kraft, Florian F; Sauer, Sabrina S; Begemann, Matthias M; Kurth, Ingo I; Elbracht, Miriam M; Eggermann, Thomas T

Publication Date: 2019-01

Variant appearance in text: NLRP5: Val23Asp; rs753824534

PubMed Link: 30218098

Variant Present in the following documents:

• Main text

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Activation of bacterial channel MscL in mechanically stimulated droplet interface bilayers.

Scientific Reports

Najem, Joseph S JS; Dunlap, Myles D MD; Rowe, Ian D ID; Freeman, Eric C EC; Grant, John W JW; Sukharev, Sergei S; Leo, Donald J DJ

Publication Date: 2015-09-08

Variant appearance in text: MATER: V23D

PubMed Link: 26348441

Variant Present in the following documents:

• srep13726.pdf

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