Publications:

Alternative lengthening of telomeres in childhood neuroblastoma from genome to proteome.

Nature Communications

Hartlieb, Sabine A SA; Sieverling, Lina L; Nadler-Holly, Michal M; Ziehm, Matthias M; Toprak, Umut H UH; Herrmann, Carl C; Ishaque, Naveed N; Okonechnikov, Konstantin K; Gartlgruber, Moritz M; Park, Young-Gyu YG; Wecht, Elisa Maria EM; Savelyeva, Larissa L; Henrich, Kai-Oliver KO; Rosswog, Carolina C; Fischer, Matthias M; Hero, Barbara B; Jones, David T W DTW; Pfaff, Elke E; Witt, Olaf O; Pfister, Stefan M SM; Volckmann, Richard R; Koster, Jan J; Kiesel, Katharina K; Rippe, Karsten K; Taschner-Mandl, Sabine S; Ambros, Peter P; Brors, Benedikt B; Selbach, Matthias M; Feuerbach, Lars L; Westermann, Frank F

Publication Date: 2021-02-24

Variant appearance in text: rs61754365

PubMed Link: 33627664

Variant Present in the following documents:

• 41467_2021_21247_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

Whole-exome sequencing provides insights into monogenic disease prevalence in Northwest Russia.

Molecular Genetics & Genomic Medicine

Barbitoff, Yury A YA; Skitchenko, Rostislav K RK; Poleshchuk, Olga I OI; Shikov, Anton E AE; Serebryakova, Elena A EA; Nasykhova, Yulia A YA; Polev, Dmitrii E DE; Shuvalova, Anna R AR; Shcherbakova, Irina V IV; Fedyakov, Mikhail A MA; Glotov, Oleg S OS; Glotov, Andrey S AS; Predeus, Alexander V AV

Publication Date: 2019-11

Variant appearance in text: rs61754365

PubMed Link: 31482689

Variant Present in the following documents:

• Main text
• MGG3-7-e964.pdf

View BVdb publication page

Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations.

Journal Of Human Genetics

Wang, Xue-Ping XP; Liu, Ya-Lan YL; Mei, Ling-Yun LY; He, Chu-Feng CF; Niu, Zhi-Jie ZJ; Sun, Jie J; Zhao, Yu-Lin YL; Feng, Yong Y; Zhang, Hua H

Publication Date: 2018-05

Variant appearance in text: TYR: 650G>T; R217I

PubMed Link: 29531335

Variant Present in the following documents:

• Main text

View BVdb publication page