Publications:

Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.

Biology Of Sex Differences

Barseghyan, Hayk H; Symon, Aleisha A; Zadikyan, Mariam M; Almalvez, Miguel M; Segura, Eva E EE; Eskin, Ascia A; Bramble, Matthew S MS; Arboleda, Valerie A VA; Baxter, Ruth R; Nelson, Stanley F SF; Délot, Emmanuèle C EC; Harley, Vincent V; Vilain, Eric E

Publication Date: 2018-01-30

Variant appearance in text: MYBL1: 754T>A; Phe252Ile

PubMed Link: 29378665

Variant Present in the following documents:

• Main text
• 13293_2018_Article_167.pdf

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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: MYBL1: 754T>A; Phe252Ile

PubMed Link: 28050010

Variant Present in the following documents:

• srep37984-s2.xls, sheet 1

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