Publications:

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Prenatal Genetic Testing in the Era of Next Generation Sequencing: A One-Center Canadian Experience.

Genes

Almubarak, Asra A; Zhang, Dan D; Kosak, Mackenzie M; Rathwell, Sarah S; Doonanco, Jasmine J; Eaton, Alison J AJ; Kannu, Peter P; Lazier, Joanna J; Lui, Monique M; Niederhoffer, Karen Y KY; MacPherson, Melissa J MJ; Sorsdahl, Melissa M; Caluseriu, Oana O

Publication Date: 2022-11-03

Variant appearance in text: RASA1: 2131C>T; Arg711X

PubMed Link: 36360262

Variant Present in the following documents:

• genes-13-02019.pdf

View BVdb publication page

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Genomic characterization of lymphomas in patients with inborn errors of immunity.

Blood Advances

Ye, Xiaofei X; Maglione, Paul J PJ; Wehr, Claudia C; Li, Xiaobo X; Wang, Yating Y; Abolhassani, Hassan H; Deripapa, Elena E; Liu, Dongbing D; Borte, Stephan S; Du, Likun L; Wan, Hui H; Plötner, Andreas A; Giannoula, Yvonne Y; Ko, Huai-Bin HB; Hou, Yong Y; Zhu, Shida S; Grossman, Jennifer K JK; Sander, Birgitta B; Grimbacher, Bodo B; Hammarström, Lennart L; Fedorova, Alina A; Rosenzweig, Sergio D SD; Shcherbina, Anna A; Wu, Kui K; Warnatz, Klaus K; Cunningham-Rundles, Charlotte C; Pan-Hammarström, Qiang Q

Publication Date: 2022-09-27

Variant appearance in text: RASA1: R711X; rs863223718

PubMed Link: 35687490

Variant Present in the following documents:

• advancesADV2021006654-suppl12.xlsx, sheet 1
• advancesADV2021006654-suppl4.xlsx, sheet 3

View BVdb publication page

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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Martin-Almedina, Silvia S; Ogmen, Kazim K; Sackey, Ege E; Grigoriadis, Dionysios D; Karapouliou, Christina C; Nadarajah, Noeline N; Ebbing, Cathrine C; Lord, Jenny J; Mellis, Rhiannon R; Kortuem, Fanny F; Dinulos, Mary Beth MB; Polun, Cassandra C; Bale, Sherri S; Atton, Giles G; Robinson, Alexandra A; Reigstad, Hallvard H; Houge, Gunnar G; von der Wense, Axel A; Becker, Wolf-Henning WH; Jeffery, Steve S; Mortimer, Peter S PS; Gordon, Kristiana K; Josephs, Katherine S KS; Robart, Sarah S; Kilby, Mark D MD; Vallee, Stephanie S; Gorski, Jerome L JL; Hempel, Maja M; Berland, Siren S; Mansour, Sahar S; Ostergaard, Pia P

Publication Date: 2021-07

Variant appearance in text: CM-AVM: 2131C>T

PubMed Link: 33864021

Variant Present in the following documents:

• 41436_2021_Article_1136.pdf

View BVdb publication page

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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: RASA1: R711*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: RASA1: R711*

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2

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: RASA1: R711*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 20

View BVdb publication page

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EphrinB2-EphB4-RASA1 Signaling in Human Cerebrovascular Development and Disease.

Trends In Molecular Medicine

Zeng, Xue X; Hunt, Ava A; Jin, Sheng Chih SC; Duran, Daniel D; Gaillard, Jonathan J; Kahle, Kristopher T KT

Publication Date: 2019-04

Variant appearance in text: RASA1: 2131C>T

PubMed Link: 30819650

Variant Present in the following documents:

• Main text

View BVdb publication page

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Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.

European Journal Of Human Genetics : Ejhg

Wooderchak-Donahue, Whitney L WL; Johnson, Peter P; McDonald, Jamie J; Blei, Francine F; Berenstein, Alejandro A; Sorscher, Michelle M; Mayer, Jennifer J; Scheuerle, Angela E AE; Lewis, Tracey T; Grimmer, J Fredrik JF; Richter, Gresham T GT; Steeves, Marcie A MA; Lin, Angela E AE; Stevenson, David A DA; Bayrak-Toydemir, Pinar P

Publication Date: 2018-10

Variant appearance in text: CM-AVM: 2131C>T

PubMed Link: 29891884

Variant Present in the following documents:

• Main text

View BVdb publication page

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Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports

Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS

Publication Date: 2018-04-03

Variant appearance in text: RASA1: Arg711*

PubMed Link: 29617658

Variant Present in the following documents:

• NIHMS958974-supplement-6.xlsx, sheet 1
• NIHMS958974-supplement-5.xlsx, sheet 1

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: RASA1: 2131C>T; R711*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: RASA1: R711*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

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