Publications:

Human and mouse essentiality screens as a resource for disease gene discovery.

Nature Communications

Cacheiro, Pilar P; Muñoz-Fuentes, Violeta V; Murray, Stephen A SA; Dickinson, Mary E ME; Bucan, Maja M; Nutter, Lauryl M J LMJ; Peterson, Kevin A KA; Haselimashhadi, Hamed H; Flenniken, Ann M AM; Morgan, Hugh H; Westerberg, Henrik H; Konopka, Tomasz T; Hsu, Chih-Wei CW; Christiansen, Audrey A; Lanza, Denise G DG; Beaudet, Arthur L AL; Heaney, Jason D JD; Fuchs, Helmut H; Gailus-Durner, Valerie V; Sorg, Tania T; Prochazka, Jan J; Novosadova, Vendula V; Lelliott, Christopher J CJ; Wardle-Jones, Hannah H; Wells, Sara S; Teboul, Lydia L; Cater, Heather H; Stewart, Michelle M; Hough, Tertius T; Wurst, Wolfgang W; Sedlacek, Radislav R; Adams, David J DJ; Seavitt, John R JR; Tocchini-Valentini, Glauco G; Mammano, Fabio F; Braun, Robert E RE; McKerlie, Colin C; Herault, Yann Y; de Angelis, Martin Hrabě MH; Mallon, Ann-Marie AM; Lloyd, K C Kent KCK; Brown, Steve D M SDM; Parkinson, Helen H; Meehan, Terrence F TF; Smedley, Damian D; , ; ,

Publication Date: 2020-01-31

Variant appearance in text: HP: 130G>A

PubMed Link: 32005800

Variant Present in the following documents:

• 41467_2020_Article_14284.pdf

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A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene.

Oncotarget

Fang, Weiyuan W; Song, Peng P; Xie, Xinbao X; Wang, Jianshe J; Lu, Yi Y; Li, Gang G; Abuduxikuer, Kuerbanjiang K

Publication Date: 2017-10-13

Variant appearance in text: HP: 130G>A

PubMed Link: 29137425

Variant Present in the following documents:

• Main text
• oncotarget-08-84309.pdf

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