Publications:

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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: rs466502

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)

Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S

Publication Date: 2021-06

Variant appearance in text: CLPTM1L: 1146+99T>C; rs466502

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 1
• CNR2-4-e1335-s003.xlsx, sheet 2

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: CLPTM1L: 1146+99T>C

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 4

View BVdb publication page

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Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology

Cust, Anne E AE; Drummond, Martin M; Kanetsky, Peter A PA; , ; , ; Goldstein, Alisa M AM; Barrett, Jennifer H JH; MacGregor, Stuart S; Law, Matthew H MH; Iles, Mark M MM; Bui, Minh M; Hopper, John L JL; Brossard, Myriam M; Demenais, Florence F; Taylor, John C JC; Hoggart, Clive C; Brown, Kevin M KM; Landi, Maria Teresa MT; Newton-Bishop, Julia A JA; Mann, Graham J GJ; Bishop, D Timothy DT

Publication Date: 2018-12

Variant appearance in text: rs466502

PubMed Link: 29890168

Variant Present in the following documents:

• mmc1.pdf

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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: rs466502

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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SNP set association analysis for genome-wide association studies.

Plos One

Cai, Min M; Dai, Hui H; Qiu, Yongyong Y; Zhao, Yang Y; Zhang, Ruyang R; Chu, Minjie M; Dai, Juncheng J; Hu, Zhibin Z; Shen, Hongbing H; Chen, Feng F

Publication Date: 2013

Variant appearance in text: rs466502

PubMed Link: 23658731

Variant Present in the following documents:

• Main text
• pone.0062495.pdf

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Telomerase reverse transcriptase locus polymorphisms and cancer risk: a field synopsis and meta-analysis.

Journal Of The National Cancer Institute

Mocellin, Simone S; Verdi, Daunia D; Pooley, Karen A KA; Landi, Maria T MT; Egan, Kathleen M KM; Baird, Duncan M DM; Prescott, Jennifer J; De Vivo, Immaculata I; Nitti, Donato D

Publication Date: 2012-06-06

Variant appearance in text: rs466502

PubMed Link: 22523397

Variant Present in the following documents:

• Main text

View BVdb publication page

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