Publications:

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Targeting DNA Damage Response and Replication Stress in Pancreatic Cancer.

Gastroenterology

Dreyer, Stephan B SB; Upstill-Goddard, Rosie R; Paulus-Hock, Viola V; Paris, Clara C; Lampraki, Eirini-Maria EM; Dray, Eloise E; Serrels, Bryan B; Caligiuri, Giuseppina G; Rebus, Selma S; Plenker, Dennis D; Galluzzo, Zachary Z; Brunton, Holly H; Cunningham, Richard R; Tesson, Mathias M; Nourse, Craig C; Bailey, Ulla-Maja UM; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Duthie, Fraser F; Oien, Karin K; Evers, Lisa L; McKay, Colin J CJ; McGregor, Grant A GA; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephan S; Dziubinski, Michele L ML; Candido, Juliana J; Balkwill, Frances F; Barry, Simon T ST; Grützmann, Robert R; Rahib, Lola L; , ; , ; Johns, Amber A; Pajic, Marina M; Froeling, Fieke E M FEM; Beer, Phillip P; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Ashworth, Alan A; Frame, Margaret C MC; Crawford, Howard C HC; Simeone, Diane M DM; Lord, Chris C; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Tuveson, David A DA; Cooke, Susanna L SL; Jamieson, Nigel B NB; Morton, Jennifer P JP; Sansom, Owen J OJ; Bailey, Peter J PJ; Biankin, Andrew V AV; Chang, David K DK

Publication Date: 2021-01

Variant appearance in text: FBN1: P148S

PubMed Link: 33039466

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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HNF4A and GATA6 Loss Reveals Therapeutically Actionable Subtypes in Pancreatic Cancer.

Cell Reports

Brunton, Holly H; Caligiuri, Giuseppina G; Cunningham, Richard R; Upstill-Goddard, Rosie R; Bailey, Ulla-Maja UM; Garner, Ian M IM; Nourse, Craig C; Dreyer, Stephan S; Jones, Marc M; Moran-Jones, Kim K; Wright, Derek W DW; Paulus-Hock, Viola V; Nixon, Colin C; Thomson, Gemma G; Jamieson, Nigel B NB; McGregor, Grant A GA; Evers, Lisa L; McKay, Colin J CJ; Gulati, Aditi A; Brough, Rachel R; Bajrami, Ilirjana I; Pettitt, Stephen J SJ; Dziubinski, Michele L ML; Barry, Simon T ST; Grützmann, Robert R; Brown, Robert R; Curry, Edward E; , ; , ; Pajic, Marina M; Musgrove, Elizabeth A EA; Petersen, Gloria M GM; Shanks, Emma E; Ashworth, Alan A; Crawford, Howard C HC; Simeone, Diane M DM; Froeling, Fieke E M FEM; Lord, Christopher J CJ; Mukhopadhyay, Debabrata D; Pilarsky, Christian C; Grimmond, Sean E SE; Morton, Jennifer P JP; Sansom, Owen J OJ; Chang, David K DK; Bailey, Peter J PJ; Biankin, Andrew V AV

Publication Date: 2020-05-12

Variant appearance in text: FBN1: P148S

PubMed Link: 32402285

Variant Present in the following documents:

• NIHMS1625804-supplement-Table_S4.xlsx, sheet 1

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: FBN1: 442C>T; P148S

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics

Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G

Publication Date: 2020-02

Variant appearance in text: FBN1: 442C>T; Pro148Ser

PubMed Link: 31506931

Variant Present in the following documents:

• CGE-97-235-s003.xlsx, sheet 1
• CGE-97-235-s002.xlsx, sheet 1

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Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly.

Structure (London, England : 1993)

Yadin, David A DA; Robertson, Ian B IB; McNaught-Davis, Joanne J; Evans, Paul P; Stoddart, David D; Handford, Penny A PA; Jensen, Sacha A SA; Redfield, Christina C

Publication Date: 2013-10-08

Variant appearance in text: FBN1: P148S

PubMed Link: 24035709

Variant Present in the following documents:

• Main text
• main.pdf

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Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg

Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C

Publication Date: 2009-09

Variant appearance in text: FBN1: 442C>T

PubMed Link: 19293843

Variant Present in the following documents:

• Main text

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