Publications:

Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

Translational Psychiatry

Forstner, Andreas J AJ; Fischer, Sascha B SB; Schenk, Lorena M LM; Strohmaier, Jana J; Maaser-Hecker, Anna A; Reinbold, Céline S CS; Sivalingam, Sugirthan S; Hecker, Julian J; Streit, Fabian F; Degenhardt, Franziska F; Witt, Stephanie H SH; Schumacher, Johannes J; Thiele, Holger H; Nürnberg, Peter P; Guzman-Parra, José J; Orozco Diaz, Guillermo G; Auburger, Georg G; Albus, Margot M; Borrmann-Hassenbach, Margitta M; González, Maria José MJ; Gil Flores, Susana S; Cabaleiro Fabeiro, Francisco J FJ; Del Río Noriega, Francisco F; Perez Perez, Fermin F; Haro González, Jesus J; Rivas, Fabio F; Mayoral, Fermin F; Bauer, Michael M; Pfennig, Andrea A; Reif, Andreas A; Herms, Stefan S; Hoffmann, Per P; Pirooznia, Mehdi M; Goes, Fernando S FS; Rietschel, Marcella M; Nöthen, Markus M MM; Cichon, Sven S

Publication Date: 2020-02-04

Variant appearance in text: HSD17B2: G271C

PubMed Link: 32066727

Variant Present in the following documents:

• 41398_2020_732_MOESM5_ESM.xlsx, sheet 1

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports

Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C

Publication Date: 2017-01-04

Variant appearance in text: HSD17B2: 811G>T; Gly271Cys

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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De novo mutations in moderate or severe intellectual disability.

Plos Genetics

Hamdan, Fadi F FF; Srour, Myriam M; Capo-Chichi, Jose-Mario JM; Daoud, Hussein H; Nassif, Christina C; Patry, Lysanne L; Massicotte, Christine C; Ambalavanan, Amirthagowri A; Spiegelman, Dan D; Diallo, Ousmane O; Henrion, Edouard E; Dionne-Laporte, Alexandre A; Fougerat, Anne A; Pshezhetsky, Alexey V AV; Venkateswaran, Sunita S; Rouleau, Guy A GA; Michaud, Jacques L JL

Publication Date: 2014-10

Variant appearance in text: rs79488654

PubMed Link: 25356899

Variant Present in the following documents:

• pgen.1004772.s004.xlsx, sheet 26

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