Publications:

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: N/A

PubMed Link: 36755093

Variant Present in the following documents:

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021-10-19

Variant appearance in text: rs8053

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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Proteogenomics Reveals Perturbed Signaling Networks in Malignant Melanoma Cells Resistant to BRAF Inhibition.

Molecular & Cellular Proteomics : Mcp

Schmitt, Marisa M; Sinnberg, Tobias T; Bratl, Katrin K; Zittlau, Katharina K; Garbe, Claus C; Macek, Boris B; Nalpas, Nicolas C NC

Publication Date: 2021

Variant appearance in text: rs8053

PubMed Link: 34673281

Variant Present in the following documents:

• mmc2.xlsx, sheet 3

View BVdb publication page

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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: rs8053

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: rs8053

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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Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci.

Scientific Reports

Pintarelli, Giulia G; Cotroneo, Chiara Elisabetta CE; Noci, Sara S; Dugo, Matteo M; Galvan, Antonella A; Delli Carpini, Simona S; Citterio, Lorena L; Manunta, Paolo P; Incarbone, Matteo M; Tosi, Davide D; Santambrogio, Luigi L; Dragani, Tommaso A TA; Colombo, Francesca F

Publication Date: 2017-02-09

Variant appearance in text: rs8053

PubMed Link: 28181565

Variant Present in the following documents:

• Main text
• srep42185.pdf

View BVdb publication page

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The CHRNA5/CHRNA3/CHRNB4 Nicotinic Receptor Regulome: Genomic Architecture, Regulatory Variants, and Clinical Associations.

Human Mutation

Barrie, Elizabeth S ES; Hartmann, Katherine K; Lee, Sung-Ha SH; Frater, John T JT; Seweryn, Michal M; Wang, Danxin D; Sadee, Wolfgang W

Publication Date: 2017-01

Variant appearance in text: rs8053

PubMed Link: 27758088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs8053

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

View BVdb publication page

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Cis-regulatory variants affect CHRNA5 mRNA expression in populations of African and European ancestry.

Plos One

Wang, Jen-Chyong JC; Spiegel, Noah N; Bertelsen, Sarah S; Le, Nhung N; McKenna, Nicholas N; Budde, John P JP; Harari, Oscar O; Kapoor, Manav M; Brooks, Andrew A; Hancock, Dana D; Tischfield, Jay J; Foroud, Tatiana T; Bierut, Laura J LJ; Steinbach, Joe Henry JH; Edenberg, Howard J HJ; Traynor, Bryan J BJ; Goate, Alison M AM

Publication Date: 2013

Variant appearance in text: rs8053

PubMed Link: 24303001

Variant Present in the following documents:

• Main text
• pone.0080204.pdf

View BVdb publication page

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Nicotinic acetylcholine receptor region on chromosome 15q25 and lung cancer risk among African Americans: a case-control study.

Journal Of The National Cancer Institute

Amos, Christopher I CI; Gorlov, Ivan P IP; Dong, Qiong Q; Wu, Xifeng X; Zhang, Huifeng H; Lu, Emily Y EY; Scheet, Paul P; Greisinger, Anthony J AJ; Mills, Gordon B GB; Spitz, Margaret R MR

Publication Date: 2010-08-04

Variant appearance in text: rs8053

PubMed Link: 20554942

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics

El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ

Publication Date: 2009-11

Variant appearance in text: rs8053

PubMed Link: 19853237

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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