Publications:

---

Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs7504

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs7504

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs7504

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

---

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs7504

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

---

Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs7504

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

---

Breast cancer risk and genetic ancestry: a case-control study in Uruguay.

Bmc Women'S Health

Bonilla, Carolina C; Bertoni, Bernardo B; Hidalgo, Pedro C PC; Artagaveytia, Nora N; Ackermann, Elizabeth E; Barreto, Isabel I; Cancela, Paula P; Cappetta, Mónica M; Egaña, Ana A; Figueiro, Gonzalo G; Heinzen, Silvina S; Hooker, Stanley S; Román, Estela E; Sans, Mónica M; Kittles, Rick A RA

Publication Date: 2015

Variant appearance in text: rs7504

PubMed Link: 25783644

Variant Present in the following documents:

• Main text
• 12905_2015_Article_171.pdf

View BVdb publication page

---

Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit.

American Journal Of Physiology. Gastrointestinal And Liver Physiology

Camilleri, Michael M; Klee, Eric W EW; Shin, Andrea A; Carlson, Paula P; Li, Ying Y; Grover, Madhusudan M; Zinsmeister, Alan R AR

Publication Date: 2014-01-01

Variant appearance in text: rs7504

PubMed Link: 24200957

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Ancestral heterogeneity in a biethnic stroke population.

Annals Of Human Genetics

Lisabeth, Lynda D LD; Morgenstern, Lewis B LB; Burke, David T DT; Sun, Yan V YV; Long, Jeffrey C JC

Publication Date: 2011-07

Variant appearance in text: rs7504

PubMed Link: 21668907

Variant Present in the following documents:

• Main text

View BVdb publication page

---

An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.

American Journal Of Human Genetics

Shen, Gong-Qing GQ; Li, Lin L; Girelli, Domenico D; Seidelmann, Sara B SB; Rao, Shaoqi S; Fan, Chun C; Park, Jeong Euy JE; Xi, Quansheng Q; Li, Jing J; Hu, Ying Y; Olivieri, Oliviero O; Marchant, Kandice K; Barnard, John J; Corrocher, Roberto R; Elston, Robert R; Cassano, June J; Henderson, Susan S; Hazen, Stanley L SL; Plow, Edward F EF; Topol, Eric J EJ; Wang, Qing K QK

Publication Date: 2007-10

Variant appearance in text: rs7504

PubMed Link: 17847002

Variant Present in the following documents:

• Main text

View BVdb publication page

---

A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping.

American Journal Of Human Genetics

Tian, Chao C; Hinds, David A DA; Shigeta, Russell R; Adler, Sharon G SG; Lee, Annette A; Pahl, Madeleine V MV; Silva, Gabriel G; Belmont, John W JW; Hanson, Robert L RL; Knowler, William C WC; Gregersen, Peter K PK; Ballinger, Dennis G DG; Seldin, Michael F MF

Publication Date: 2007-06

Variant appearance in text: rs7504

PubMed Link: 17557415

Variant Present in the following documents:

• Main text

View BVdb publication page

---