Publications:

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Genetic aetiology distribution of 398 foetuses with congenital heart disease in the prenatal setting.

Esc Heart Failure

Yi, Tong T; Hao, Xiaoyan X; Sun, Hairui H; Zhang, Ye Y; Han, Jiancheng J; Gu, Xiaoyan X; Sun, Lin L; Liu, Xiaowei X; Zhao, Ying Y; Guo, Yong Y; Zhou, Xiaoxue X; He, Yihua Y

Publication Date: 2022-12-07

Variant appearance in text: DNAH11: 2750A>T; Glu917Val

PubMed Link: 36478645

Variant Present in the following documents:

• Main text
• EHF2-10-917.pdf

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: DNAH11: E917V; rs543944909

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Identification of compound heterozygous DNAH11 variants in a Han-Chinese family with primary ciliary dyskinesia.

Journal Of Cellular And Molecular Medicine

Xiong, Ying Y; Xia, Hong H; Yuan, Lamei L; Deng, Sheng S; Ding, Zerui Z; Deng, Hao H

Publication Date: 2021-09

Variant appearance in text: DNAH11: 2750A>T

PubMed Link: 34405951

Variant Present in the following documents:

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: DNAH11: E917V

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: DNAH11: 2750A>T; E917V

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

G3 (Bethesda, Md.)

Marshall, Christian R CR; Scherer, Stephen W SW; Zariwala, Maimoona A MA; Lau, Lynette L; Paton, Tara A TA; Stockley, Tracy T; Jobling, Rebekah K RK; Ray, Peter N PN; Knowles, Michael R MR; , ; Hall, David A DA; Dell, Sharon D SD; Kim, Raymond H RH

Publication Date: 2015-07-02

Variant appearance in text: DNAH11: E917V

PubMed Link: 26139845

Variant Present in the following documents:

• 1775.pdf

View BVdb publication page

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