Publications:

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Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)

Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z

Publication Date: 2021-03-05

Variant appearance in text: F8: 1064G>A

PubMed Link: 33807613

Variant Present in the following documents:

• life-11-00202-s001.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: F8: R355Q

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Use of HLA peptidomics and whole exome sequencing to identify human immunogenic neo-antigens.

Oncotarget

Kalaora, Shelly S; Barnea, Eilon E; Merhavi-Shoham, Efrat E; Qutob, Nouar N; Teer, Jamie K JK; Shimony, Nilly N; Schachter, Jacob J; Rosenberg, Steven A SA; Besser, Michal J MJ; Admon, Arie A; Samuels, Yardena Y

Publication Date: 2016-02-02

Variant appearance in text: F8: 1064G>A; R355Q

PubMed Link: 26819371

Variant Present in the following documents:

• oncotarget-07-5110-s002.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: F8: 1064G>A; rs146581224

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: F8: 1064G>A; rs146581224

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

View BVdb publication page

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Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.

American Journal Of Human Genetics

McLarren, Keith W KW; Severson, Tesa M TM; du Souich, Christèle C; Stockton, David W DW; Kratz, Lisa E LE; Cunningham, David D; Hendson, Glenda G; Morin, Ryan D RD; Wu, Diane D; Paul, Jessica E JE; An, Jianghong J; Nelson, Tanya N TN; Chou, Athena A; DeBarber, Andrea E AE; Merkens, Louise S LS; Michaud, Jacques L JL; Waters, Paula J PJ; Yin, Jingyi J; McGillivray, Barbara B; Demos, Michelle M; Rouleau, Guy A GA; Grzeschik, Karl-Heinz KH; Smith, Raffaella R; Tarpey, Patrick S PS; Shears, Debbie D; Schwartz, Charles E CE; Gecz, Jozef J; Stratton, Michael R MR; Arbour, Laura L; Hurlburt, Jane J; Van Allen, Margot I MI; Herman, Gail E GE; Zhao, Yongjun Y; Moore, Richard R; Kelley, Richard I RI; Jones, Steven J M SJ; Steiner, Robert D RD; Raymond, F Lucy FL; Marra, Marco A MA; Boerkoel, Cornelius F CF

Publication Date: 2010-12-10

Variant appearance in text: F8: 1064G>A; Arg355Gln

PubMed Link: 21129721

Variant Present in the following documents:

• Main text

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