Publications:

Childhood cerebellar tumours mirror conserved fetal transcriptional programs.

Nature

Vladoiu, Maria C MC; El-Hamamy, Ibrahim I; Donovan, Laura K LK; Farooq, Hamza H; Holgado, Borja L BL; Sundaravadanam, Yogi Y; Ramaswamy, Vijay V; Hendrikse, Liam D LD; Kumar, Sachin S; Mack, Stephen C SC; Lee, John J Y JJY; Fong, Vernon V; Juraschka, Kyle K; Przelicki, David D; Michealraj, Antony A; Skowron, Patryk P; Luu, Betty B; Suzuki, Hiromichi H; Morrissy, A Sorana AS; Cavalli, Florence M G FMG; Garzia, Livia L; Daniels, Craig C; Wu, Xiaochong X; Qazi, Maleeha A MA; Singh, Sheila K SK; Chan, Jennifer A JA; Marra, Marco A MA; Malkin, David D; Dirks, Peter P; Heisler, Lawrence L; Pugh, Trevor T; Ng, Karen K; Notta, Faiyaz F; Thompson, Eric M EM; Kleinman, Claudia L CL; Joyner, Alexandra L AL; Jabado, Nada N; Stein, Lincoln L; Taylor, Michael D MD

Publication Date: 2019-08

Variant appearance in text: rs61731383

PubMed Link: 31043743

Variant Present in the following documents:

• NIHMS1525286-supplement-Sup_Table_7.xlsx, sheet 10

View BVdb publication page

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CREBBP: 2974G>A; Val992Ile

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: CREBBP: V992I; rs61731383

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort.

Bmc Cancer

Haiman, Christopher A CA; Garcia, Rachel R RR; Hsu, Chris C; Xia, Lucy L; Ha, Helen H; Sheng, Xin X; Le Marchand, Loic L; Kolonel, Laurence N LN; Henderson, Brian E BE; Stallcup, Michael R MR; Greene, Geoffrey L GL; Press, Michael F MF

Publication Date: 2009-01-30

Variant appearance in text: CREBBP: Val992Ile

PubMed Link: 19183483

Variant Present in the following documents:

• Main text
• 1471-2407-9-43.pdf

View BVdb publication page