Publications:

Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: SYNJ1: 920G>A

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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A genetic analysis of a Spanish population with early onset Parkinson's disease.

Plos One

Cristina, Tejera-Parrado TP; Pablo, Mir M; Teresa, Periñán María PM; Lydia, Vela-Desojo VD; Irene, Abreu-Rodríguez AR; Araceli, Alonso-Cánovas AC; Inmaculada, Bernal-Bernal BB; Marta, Bonilla-Toribio BT; Dolores, Buiza-Rueda BR; José, Catalán-Alonso María CM; Rocío, García-Ramos GR; José, García-Ruiz Pedro GP; Ismael, Huertas-Fernández HF; Silvia, Jesús J; Labrador, Miguel A-Espinosa MA; Lydia, López-Manzanares LM; Carlos, Martínez-Castrillo Juan MJ; Posada, Ignacio J IJ; Ana, Rojo-Sebastián RS; Cristina, Ruiz-Huete RH; Javier, Del Val DV; Gómez-Garre, Pilar P

Publication Date: 2020

Variant appearance in text: SYNJ1: R307H

PubMed Link: 32870915

Variant Present in the following documents:

• pone.0238098.s003.pdf

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: SYNJ1: R307H

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: SYNJ1: R307H

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1
• mmc6.xlsx, sheet 2

View BVdb publication page