Publications:

Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.

Brain Communications

Ruf, Wolfgang P WP; Boros, Matej M; Freischmidt, Axel A; Brenner, David D; Grozdanov, Veselin V; de Meirelles, Joao J; Meyer, Thomas T; Grehl, Torsten T; Petri, Susanne S; Grosskreutz, Julian J; Weyen, Ute U; Guenther, Rene R; Regensburger, Martin M; Hagenacker, Tim T; Koch, Jan C JC; Emmer, Alexander A; Roediger, Annekathrin A; Steinbach, Robert R; Wolf, Joachim J; Weishaupt, Jochen H JH; Lingor, Paul P; Deschauer, Marcus M; Cordts, Isabell I; Klopstock, Thomas T; Reilich, Peter P; Schoeberl, Florian F; Schrank, Berthold B; Zeller, Daniel D; Hermann, Andreas A; Knehr, Antje A; Günther, Kornelia K; Dorst, Johannes J; Schuster, Joachim J; Siebert, Reiner R; Ludolph, Albert C AC; Müller, Kathrin K

Publication Date: 2023

Variant appearance in text: HR: 2695C>T

PubMed Link: 37223130

Variant Present in the following documents:

• fcad152.pdf

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Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2.

Nature Communications

Boonen, Rick A C M RACM; Rodrigue, Amélie A; Stoepker, Chantal C; Wiegant, Wouter W WW; Vroling, Bas B; Sharma, Milan M; Rother, Magdalena B MB; Celosse, Nandi N; Vreeswijk, Maaike P G MPG; Couch, Fergus F; Simard, Jacques J; Devilee, Peter P; Masson, Jean-Yves JY; van Attikum, Haico H

Publication Date: 2019-11-22

Variant appearance in text: HR: Q899X

PubMed Link: 31757951

Variant Present in the following documents:

• Main text
• 41467_2019_13194_MOESM1_ESM.pdf
• 41467_2019_Article_13194.pdf

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