Publications:

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs1139897

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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Smoking and heart failure: a Mendelian randomization and mediation analysis.

Esc Heart Failure

Lu, Yunlong Y; Xu, Zhouming Z; Georgakis, Marios K MK; Wang, Zhen Z; Lin, Hefeng H; Zheng, Liangrong L

Publication Date: 2021-06

Variant appearance in text: rs1139897

PubMed Link: 33656795

Variant Present in the following documents:

• EHF2-8-1954-s001.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: rs1139897

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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ATR-16 syndrome: mechanisms linking monosomy to phenotype.

Journal Of Medical Genetics

Babbs, Christian C; Brown, Jill J; Horsley, Sharon W SW; Slater, Joanne J; Maifoshie, Evie E; Kumar, Shiwangini S; Ooijevaar, Paul P; Kriek, Marjolein M; Dixon-McIver, Amanda A; Harteveld, Cornelis L CL; Traeger-Synodinos, Jan J; Wilkie, Andrew O M AOM; Higgs, Douglas R DR; Buckle, Veronica J VJ

Publication Date: 2020-06

Variant appearance in text: rs1139897

PubMed Link: 32005695

Variant Present in the following documents:

• jmedgenet-2019-106528supp001.pdf

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: rs1139897

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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Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.

Nature Genetics

Liu, Mengzhen M; Jiang, Yu Y; Wedow, Robbee R; Li, Yue Y; Brazel, David M DM; Chen, Fang F; Datta, Gargi G; Davila-Velderrain, Jose J; McGuire, Daniel D; Tian, Chao C; Zhan, Xiaowei X; , ; , ; Choquet, Hélène H; Docherty, Anna R AR; Faul, Jessica D JD; Foerster, Johanna R JR; Fritsche, Lars G LG; Gabrielsen, Maiken Elvestad ME; Gordon, Scott D SD; Haessler, Jeffrey J; Hottenga, Jouke-Jan JJ; Huang, Hongyan H; Jang, Seon-Kyeong SK; Jansen, Philip R PR; Ling, Yueh Y; Mägi, Reedik R; Matoba, Nana N; McMahon, George G; Mulas, Antonella A; Orrù, Valeria V; Palviainen, Teemu T; Pandit, Anita A; Reginsson, Gunnar W GW; Skogholt, Anne Heidi AH; Smith, Jennifer A JA; Taylor, Amy E AE; Turman, Constance C; Willemsen, Gonneke G; Young, Hannah H; Young, Kendra A KA; Zajac, Gregory J M GJM; Zhao, Wei W; Zhou, Wei W; Bjornsdottir, Gyda G; Boardman, Jason D JD; Boehnke, Michael M; Boomsma, Dorret I DI; Chen, Chu C; Cucca, Francesco F; Davies, Gareth E GE; Eaton, Charles B CB; Ehringer, Marissa A MA; Esko, Tõnu T; Fiorillo, Edoardo E; Gillespie, Nathan A NA; Gudbjartsson, Daniel F DF; Haller, Toomas T; Harris, Kathleen Mullan KM; Heath, Andrew C AC; Hewitt, John K JK; Hickie, Ian B IB; Hokanson, John E JE; Hopfer, Christian J CJ; Hunter, David J DJ; Iacono, William G WG; Johnson, Eric O EO; Kamatani, Yoichiro Y; Kardia, Sharon L R SLR; Keller, Matthew C MC; Kellis, Manolis M; Kooperberg, Charles C; Kraft, Peter P; Krauter, Kenneth S KS; Laakso, Markku M; Lind, Penelope A PA; Loukola, Anu A; Lutz, Sharon M SM; Madden, Pamela A F PAF; Martin, Nicholas G NG; McGue, Matt M; McQueen, Matthew B MB; Medland, Sarah E SE; Metspalu, Andres A; Mohlke, Karen L KL; Nielsen, Jonas B JB; Okada, Yukinori Y; Peters, Ulrike U; Polderman, Tinca J C TJC; Posthuma, Danielle D; Reiner, Alexander P AP; Rice, John P JP; Rimm, Eric E; Rose, Richard J RJ; Runarsdottir, Valgerdur V; Stallings, Michael C MC; Stančáková, Alena A; Stefansson, Hreinn H; Thai, Khanh K KK; Tindle, Hilary A HA; Tyrfingsson, Thorarinn T; Wall, Tamara L TL; Weir, David R DR; Weisner, Constance C; Whitfield, John B JB; Winsvold, Bendik Slagsvold BS; Yin, Jie J; Zuccolo, Luisa L; Bierut, Laura J LJ; Hveem, Kristian K; Lee, James J JJ; Munafò, Marcus R MR; Saccone, Nancy L NL; Willer, Cristen J CJ; Cornelis, Marilyn C MC; David, Sean P SP; Hinds, David A DA; Jorgenson, Eric E; Kaprio, Jaakko J; Stitzel, Jerry A JA; Stefansson, Kari K; Thorgeirsson, Thorgeir E TE; Abecasis, Gonçalo G; Liu, Dajiang J DJ; Vrieze, Scott S

Publication Date: 2019-02

Variant appearance in text: rs1139897

PubMed Link: 30643251

Variant Present in the following documents:

• Main text

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: rs1139897

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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: rs1139897

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs1139897

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One

Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y

Publication Date: 2014

Variant appearance in text: rs1139897

PubMed Link: 25032700

Variant Present in the following documents:

• pone.0101670.s004.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: rs1139897

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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Exome-wide association study of replicable nonsynonymous variants conferring risk for alcohol dependence.

Journal Of Studies On Alcohol And Drugs

Zuo, Lingjun L; Saba, Laura L; Wang, Kesheng K; Zhang, Xiangyang X; Krystal, John H JH; Tabakoff, Boris B; Luo, Xingguang X

Publication Date: 2013-07

Variant appearance in text: rs1139897

PubMed Link: 23739027

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Screening of the Mitochondrial Rho GTPases MIRO1 and MIRO2 in Parkinson's Disease.

The Open Neurology Journal

Anvret, Anna A; Ran, Caroline C; Westerlund, Marie M; Sydow, Olof O; Willows, Thomas T; Olson, Lars L; Galter, Dagmar D; Belin, Andrea Carmine AC

Publication Date: 2012

Variant appearance in text: rs1139897

PubMed Link: 22496713

Variant Present in the following documents:

• Main text

View BVdb publication page

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