Publications:

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Genome-wide association study of serum liver enzymes implicates diverse metabolic and liver pathology.

Nature Communications

Chen, Vincent L VL; Du, Xiaomeng X; Chen, Yanhua Y; Kuppa, Annapurna A; Handelman, Samuel K SK; Vohnoutka, Rishel B RB; Peyser, Patricia A PA; Palmer, Nicholette D ND; Bielak, Lawrence F LF; Halligan, Brian B; Speliotes, Elizabeth K EK

Publication Date: 2021-02-05

Variant appearance in text: rs7604639

PubMed Link: 33547301

Variant Present in the following documents:

• Main text
• 41467_2020_Article_20870.pdf

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: rs7604639

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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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs7604639

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3

View BVdb publication page

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Next-Generation Sequencing-Aided Rapid Molecular Diagnosis of Occult Macular Dystrophy in a Chinese Family.

Frontiers In Genetics

Qi, Yu-He YH; Gao, Feng-Juan FJ; Hu, Fang-Yuan FY; Zhang, Sheng-Hai SH; Chen, Jun-Yi JY; Huang, Wan-Jing WJ; Tian, Guo-Hong GH; Wang, Min M; Gan, De-Kang DK; Wu, Ji-Hong JH; Xu, Ge-Zhi GZ

Publication Date: 2017

Variant appearance in text: rs7604639

PubMed Link: 28890726

Variant Present in the following documents:

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs7604639

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs7604639

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection.

Gastroenterology

Patin, Etienne E; Kutalik, Zoltán Z; Guergnon, Julien J; Bibert, Stéphanie S; Nalpas, Bertrand B; Jouanguy, Emmanuelle E; Munteanu, Mona M; Bousquet, Laurence L; Argiro, Laurent L; Halfon, Philippe P; Boland, Anne A; Müllhaupt, Beat B; Semela, David D; Dufour, Jean-François JF; Heim, Markus H MH; Moradpour, Darius D; Cerny, Andreas A; Malinverni, Raffaele R; Hirsch, Hans H; Martinetti, Gladys G; Suppiah, Vijayaprakash V; Stewart, Graeme G; Booth, David R DR; George, Jacob J; Casanova, Jean-Laurent JL; Bréchot, Christian C; Rice, Charles M CM; Talal, Andrew H AH; Jacobson, Ira M IM; Bourlière, Marc M; Theodorou, Ioannis I; Poynard, Thierry T; Negro, Francesco F; Pol, Stanislas S; Bochud, Pierre-Yves PY; Abel, Laurent L; , ; ,

Publication Date: 2012-11

Variant appearance in text: rs7604639

PubMed Link: 22841784

Variant Present in the following documents:

• Main text

View BVdb publication page

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