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: rs6512265

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

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A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood.

Frontiers In Genetics

Jiang, Jiyang J; Thalamuthu, Anbupalam A; Ho, Jennifer E JE; Mahajan, Anubha A; Ek, Weronica E WE; Brown, David A DA; Breit, Samuel N SN; Wang, Thomas J TJ; Gyllensten, Ulf U; Chen, Ming-Huei MH; Enroth, Stefan S; Januzzi, James L JL; Lind, Lars L; Armstrong, Nicola J NJ; Kwok, John B JB; Schofield, Peter R PR; Wen, Wei W; Trollor, Julian N JN; Johansson, Åsa Å; Morris, Andrew P AP; Vasan, Ramachandran S RS; Sachdev, Perminder S PS; Mather, Karen A KA

Publication Date: 2018

Variant appearance in text: rs6512265

PubMed Link: 29628937

Variant Present in the following documents:

• Main text
• fgene-09-00097.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: rs6512265

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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LRRC25 plays a key role in all-trans retinoic acid-induced granulocytic differentiation as a novel potential leukocyte differentiation antigen.

Protein & Cell

Liu, Weili W; Li, Ting T; Wang, Pingzhang P; Liu, Wanchang W; Liu, Fujun F; Mo, Xiaoning X; Liu, Zhengyang Z; Song, Quansheng Q; Lv, Ping P; Ruan, Guorui G; Han, Wenling W

Publication Date: 2018-09

Variant appearance in text: rs6512265

PubMed Link: 28536942

Variant Present in the following documents:

• Main text
• 13238_2017_Article_421.pdf

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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: rs6512265

PubMed Link: 25887915

Variant Present in the following documents:

• 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1

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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: rs6512265

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

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Identification of four gene variants associated with myocardial infarction.

American Journal Of Human Genetics

Shiffman, Dov D; Ellis, Stephen G SG; Rowland, Charles M CM; Malloy, Mary J MJ; Luke, May M MM; Iakoubova, Olga A OA; Pullinger, Clive R CR; Cassano, June J; Aouizerat, Bradley E BE; Fenwick, Raymond G RG; Reitz, Richard E RE; Catanese, Joseph J JJ; Leong, Diane U DU; Zellner, Christian C; Sninsky, John J JJ; Topol, Eric J EJ; Devlin, James J JJ; Kane, John P JP

Publication Date: 2005-10

Variant appearance in text: rs6512265

PubMed Link: 16175505

Variant Present in the following documents:

• Main text

View BVdb publication page

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