Publications:

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Germline mutations among Polish patients with acute myeloid leukemia.

Hereditary Cancer In Clinical Practice

Bąk, Aneta A; Skonieczka, Katarzyna K; Jaśkowiec, Anna A; Junkiert-Czarnecka, Anna A; Heise, Marta M; Pilarska-Deltow, Maria M; Potoczek, Stanisław S; Czyżewska, Maria M; Haus, Olga O

Publication Date: 2021-10-12

Variant appearance in text: GATA2: Ala411=; rs34172218

PubMed Link: 34641967

Variant Present in the following documents:

• Main text
• 13053_2021_Article_200.pdf

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: GATA2: A411A

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of rare and low-frequency genetic variants in common variable immunodeficiency (CVID).

Scientific Reports

Bisgin, Atil A; Sonmezler, Ozge O; Boga, Ibrahim I; Yilmaz, Mustafa M

Publication Date: 2021-04-15

Variant appearance in text: GATA2: 1233G>A; A411A

PubMed Link: 33859323

Variant Present in the following documents:

• 41598_2021_87898_MOESM3_ESM.pdf
• 41598_2021_87898_MOESM2_ESM.pdf

View BVdb publication page

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Advanced bioinformatic analysis and pathway prediction of NSCLC cells upon cisplatin resistance.

Scientific Reports

Hossian, A K M Nawshad AKMN; Zahra, Fatema Tuz FT; Poudel, Sagun S; Abshire, Camille F CF; Polk, Paula P; Garai, Jone J; Zabaleta, Jovanny J; Mikelis, Constantinos M CM; Mattheolabakis, George G

Publication Date: 2021-03-22

Variant appearance in text: GATA2: 1233G>A; Ala411Ala

PubMed Link: 33753779

Variant Present in the following documents:

• 41598_2021_85930_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency.

Leukemia

Kozyra, Emilia J EJ; Pastor, Victor B VB; Lefkopoulos, Stylianos S; Sahoo, Sushree S SS; Busch, Hauke H; Voss, Rebecca K RK; Erlacher, Miriam M; Lebrecht, Dirk D; Szvetnik, Enikoe A EA; Hirabayashi, Shinsuke S; Pasaulienė, Ramunė R; Pedace, Lucia L; Tartaglia, Marco M; Klemann, Christian C; Metzger, Patrick P; Boerries, Melanie M; Catala, Albert A; Hasle, Henrik H; de Haas, Valerie V; Kállay, Krisztián K; Masetti, Riccardo R; De Moerloose, Barbara B; Dworzak, Michael M; Schmugge, Markus M; Smith, Owen O; Starý, Jan J; Mejstrikova, Ester E; Ussowicz, Marek M; Morris, Emma E; Singh, Preeti P; Collin, Matthew M; Derecka, Marta M; Göhring, Gudrun G; Flotho, Christian C; Strahm, Brigitte B; Locatelli, Franco F; Niemeyer, Charlotte M CM; Trompouki, Eirini E; Wlodarski, Marcin W MW; ,

Publication Date: 2020-10

Variant appearance in text: GATA2: A411A

PubMed Link: 32555368

Variant Present in the following documents:

• Main text
• 41375_2020_Article_899.pdf

View BVdb publication page

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Multilevel genomics of colorectal cancers with microsatellite instability-clinical impact of JAK1 mutations and consensus molecular subtype 1.

Genome Medicine

Sveen, Anita A; Johannessen, Bjarne B; Tengs, Torstein T; Danielsen, Stine A SA; Eilertsen, Ina A IA; Lind, Guro E GE; Berg, Kaja C G KCG; Leithe, Edward E; Meza-Zepeda, Leonardo A LA; Domingo, Enric E; Myklebost, Ola O; Kerr, David D; Tomlinson, Ian I; Nesbakken, Arild A; Skotheim, Rolf I RI; Lothe, Ragnhild A RA

Publication Date: 2017-05-24

Variant appearance in text: GATA2: A411A

PubMed Link: 28539123

Variant Present in the following documents:

• 13073_2017_434_MOESM1_ESM.xlsx, sheet 5

View BVdb publication page

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: rs34172218

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s3.xlsx, sheet 1
• ncomms12475-s2.xlsx, sheet 1

View BVdb publication page

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.

Scientific Reports

Pengelly, Reuben J RJ; Arias, Liliana L; Martínez, Julio J; Upstill-Goddard, Rosanna R; Seaby, Eleanor G EG; Gibson, Jane J; Ennis, Sarah S; Collins, Andrew A; Briceño, Ignacio I

Publication Date: 2016-07-26

Variant appearance in text: GATA2: A411A; rs34172218

PubMed Link: 27456059

Variant Present in the following documents:

• srep30457-s2.xls, sheet 2
• srep30457-s2.xls, sheet 1

View BVdb publication page

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Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications

Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP

Publication Date: 2014-12-24

Variant appearance in text: GATA2: 1233G>A; rs34172218

PubMed Link: 25589003

Variant Present in the following documents:

• 40478_2014_167_MOESM1_ESM.xlsx, sheet 6

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: GATA2: A411A; rs34172218

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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