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: rs1129644

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs1129644

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs1129644

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: rs1129644

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

Pinel, Philippe P; Fauchereau, Fabien F; Moreno, Antonio A; Barbot, Alexis A; Lathrop, Mark M; Zelenika, Diana D; Le Bihan, Denis D; Poline, Jean-Baptiste JB; Bourgeron, Thomas T; Dehaene, Stanislas S

Publication Date: 2012-01-18

Variant appearance in text: rs1129644

PubMed Link: 22262880

Variant Present in the following documents:

• Main text

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Investigating the complex genetic architecture of ankle-brachial index, a measure of peripheral arterial disease, in non-Hispanic whites.

Bmc Medical Genomics

Kardia, Sharon Lr SL; Greene, M Todd MT; Boerwinkle, Eric E; Turner, Stephen T ST; Kullo, Iftikhar J IJ

Publication Date: 2008-05-15

Variant appearance in text: rs1129644

PubMed Link: 18482449

Variant Present in the following documents:

• Main text
• 1755-8794-1-16.pdf

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A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.

American Journal Of Human Genetics

Francks, Clyde C; Paracchini, Silvia S; Smith, Shelley D SD; Richardson, Alex J AJ; Scerri, Tom S TS; Cardon, Lon R LR; Marlow, Angela J AJ; MacPhie, I Laurence IL; Walter, Janet J; Pennington, Bruce F BF; Fisher, Simon E SE; Olson, Richard K RK; DeFries, John C JC; Stein, John F JF; Monaco, Anthony P AP

Publication Date: 2004-12

Variant appearance in text: rs1129644

PubMed Link: 15514892

Variant Present in the following documents:

• Main text

View BVdb publication page

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