Publications:

New variants and in silico analyses in GRK1 associated Oguchi disease.

Human Mutation

Poulter, James A JA; Gravett, Molly S C MSC; Taylor, Rachel L RL; Fujinami, Kaoru K; De Zaeytijd, Julie J; Bellingham, James J; Rehman, Atta Ur AU; Hayashi, Takaaki T; Kondo, Mineo M; Rehman, Abdur A; Ansar, Muhammad M; Donnelly, Dan D; Toomes, Carmel C; Ali, Manir M; , ; De Baere, Elfride E; Leroy, Bart P BP; Davies, Nigel P NP; Henderson, Robert H RH; Webster, Andrew R AR; Rivolta, Carlo C; Zeitz, Christina C; Mahroo, Omar A OA; Arno, Gavin G; Black, Graeme C M GCM; McKibbin, Martin M; Harris, Sarah A SA; Khan, Kamron N KN; Inglehearn, Chris F CF

Publication Date: 2021-02

Variant appearance in text: F2: 1084G>A

PubMed Link: 33252155

Variant Present in the following documents:

• Main text

View BVdb publication page

New variants and in silico analyses in GRK1 associated Oguchi disease.

Human Mutation

Poulter, James A JA; Gravett, Molly S C MSC; Taylor, Rachel L RL; Fujinami, Kaoru K; De Zaeytijd, Julie J; Bellingham, James J; Rehman, Atta Ur AU; Hayashi, Takaaki T; Kondo, Mineo M; Rehman, Abdur A; Ansar, Muhammad M; Donnelly, Dan D; Toomes, Carmel C; Ali, Manir M; , ; De Baere, Elfride E; Leroy, Bart P BP; Davies, Nigel P NP; Henderson, Robert H RH; Webster, Andrew R AR; Rivolta, Carlo C; Zeitz, Christina C; Mahroo, Omar A OA; Arno, Gavin G; Black, Graeme C M GCM; McKibbin, Martin M; Harris, Sarah A SA; Khan, Kamron N KN; Inglehearn, Chris F CF

Publication Date: 2021-02

Variant appearance in text: F2: 1084G>A

PubMed Link: 33252155

Variant Present in the following documents:

• Main text

View BVdb publication page

Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.

Journal Of Clinical Medicine

Kubánek, Miloš M; Schimerová, Tereza T; Piherová, Lenka L; Brodehl, Andreas A; Krebsová, Alice A; Ratnavadivel, Sandra S; Stanasiuk, Caroline C; Hansíková, Hana H; Zeman, Jiří J; Paleček, Tomáš T; Houštěk, Josef J; Drahota, Zdeněk Z; Nůsková, Hana H; Mikešová, Jana J; Zámečník, Josef J; Macek, Milan M; Ridzoň, Petr P; Malusková, Jana J; Stránecký, Viktor V; Melenovský, Vojtěch V; Milting, Hendrik H; Kmoch, Stanislav S

Publication Date: 2020-03-29

Variant appearance in text: F2: 1084G>A

PubMed Link: 32235386

Variant Present in the following documents:

• jcm-09-00937-s001.pdf

View BVdb publication page

The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: F2: 1084G>A; G362R

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

Characterization of virulent Newcastle disease viruses from vaccinated chicken flocks in Eastern China.

Bmc Veterinary Research

Zhu, Jie J; Hu, Shunlin S; Xu, Haixu H; Liu, Jingjing J; Zhao, Zhenzhen Z; Wang, Xiaoquan X; Liu, Xiufan X

Publication Date: 2016-06-16

Variant appearance in text: F2: G362R

PubMed Link: 27305943

Variant Present in the following documents:

• Main text
• 12917_2016_Article_732.pdf

View BVdb publication page