Publications:

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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: rs3803185

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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Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Gut

Montazeri, Zahra Z; Li, Xue X; Nyiraneza, Christine C; Ma, Xiangyu X; Timofeeva, Maria M; Svinti, Victoria V; Meng, Xiangrui X; He, Yazhou Y; Bo, Yacong Y; Morgan, Samuel S; Castellví-Bel, Sergi S; Ruiz-Ponte, Clara C; Fernández-Rozadilla, Ceres C; Carracedo, Ángel Á; Castells, Antoni A; Bishop, Timothy T; Buchanan, Daniel D; Jenkins, Mark A MA; Keku, Temitope O TO; Lindblom, Annika A; van Duijnhoven, Fränzel J B FJB; Wu, Anna A; Farrington, Susan M SM; Dunlop, Malcolm G MG; Campbell, Harry H; Theodoratou, Evropi E; Zheng, Wei W; Little, Julian J

Publication Date: 2020-08

Variant appearance in text: rs3803185

PubMed Link: 31818908

Variant Present in the following documents:

• Main text
• gutjnl-2019-319313.pdf
• gutjnl-2019-319313supp002.pdf
• gutjnl-2019-319313supp003.pdf

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Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications

Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H

Publication Date: 2019-09-12

Variant appearance in text: rs3803185

PubMed Link: 31515488

Variant Present in the following documents:

• 41467_2019_11959_MOESM6_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: rs3803185

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

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: rs3803185

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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N-acetylgalactosaminyltransferases in cancer.

Oncotarget

Hussain, Muhammad Ramzan Manwar MR; Hoessli, Daniel C DC; Fang, Min M

Publication Date: 2016-08-16

Variant appearance in text: rs3803185

PubMed Link: 27322213

Variant Present in the following documents:

• Main text
• oncotarget-07-54067.pdf

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: rs3803185

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics

Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J

Publication Date: 2015-03-12

Variant appearance in text: rs3803185

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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ARLTS1 and prostate cancer risk--analysis of expression and regulation.

Plos One

Siltanen, Sanna S; Fischer, Daniel D; Rantapero, Tommi T; Laitinen, Virpi V; Mpindi, John Patrick JP; Kallioniemi, Olli O; Wahlfors, Tiina T; Schleutker, Johanna J

Publication Date: 2013

Variant appearance in text: rs3803185

PubMed Link: 23940804

Variant Present in the following documents:

• Main text
• pone.0072040.pdf

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Case-control study for colorectal cancer genetic susceptibility in EPICOLON: previously identified variants and mucins.

Bmc Cancer

Abulí, Anna A; Fernández-Rozadilla, Ceres C; Alonso-Espinaco, Virginia V; Muñoz, Jenifer J; Gonzalo, Victoria V; Bessa, Xavier X; González, Dolors D; Clofent, Joan J; Cubiella, Joaquin J; Morillas, Juan D JD; Rigau, Joaquim J; Latorre, Mercedes M; Fernández-Bañares, Fernando F; Peña, Elena E; Riestra, Sabino S; Payá, Artemio A; Jover, Rodrigo R; Xicola, Rosa M RM; Llor, Xavier X; Carvajal-Carmona, Luis L; Villanueva, Cristina M CM; Moreno, Victor V; Piqué, Josep M JM; Carracedo, Angel A; Castells, Antoni A; Andreu, Montserrat M; Ruiz-Ponte, Clara C; Castellví-Bel, Sergi S; ,

Publication Date: 2011-08-05

Variant appearance in text: rs3803185

PubMed Link: 21819567

Variant Present in the following documents:

• Main text
• 1471-2407-11-339.pdf

View BVdb publication page

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