Publications:

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ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.

Leukemia

Schönfeld, Lioba L; Rinke, Jenny J; Hinze, Anna A; Nagel, Saskia N SN; Schäfer, Vivien V; Schenk, Thomas T; Fabisch, Christian C; Brümmendorf, Tim H TH; Burchert, Andreas A; le Coutre, Philipp P; Krause, Stefan W SW; Saussele, Susanne S; Safizadeh, Fatemeh F; Pfirrmann, Markus M; Hochhaus, Andreas A; Ernst, Thomas T

Publication Date: 2022-09

Variant appearance in text: GATA2: P41A; rs143590990

PubMed Link: 35902731

Variant Present in the following documents:

• 41375_2022_1648_MOESM1_ESM.xlsx, sheet 2
• 41375_2022_1648_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: GATA2: P41A; rs143590990

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

View BVdb publication page

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Molecular predictors of response to pembrolizumab in thymic carcinoma.

Cell Reports. Medicine

He, Yongfeng Y; Ramesh, Archana A; Gusev, Yuriy Y; Bhuvaneshwar, Krithika K; Giaccone, Giuseppe G

Publication Date: 2021-09-21

Variant appearance in text: GATA2: P41A

PubMed Link: 34622229

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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GATA2 deficiency syndrome: A decade of discovery.

Human Mutation

Homan, Claire C CC; Venugopal, Parvathy P; Arts, Peer P; Shahrin, Nur H NH; Feurstein, Simone S; Rawlings, Lesley L; Lawrence, David M DM; Andrews, James J; King-Smith, Sarah L SL; Harvey, Natasha L NL; Brown, Anna L AL; Scott, Hamish S HS; Hahn, Christopher N CN

Publication Date: 2021-11

Variant appearance in text: GATA2: 121C>G; P41A

PubMed Link: 34387894

Variant Present in the following documents:

• HUMU-42-1399-s001.xlsx, sheet 2

View BVdb publication page

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Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Therapeutic Advances In Medical Oncology

Scheipl, Susanne S; Brcic, Iva I; Moser, Tina T; Fischerauer, Stefan S; Riedl, Jakob J; Bergovec, Marko M; Smolle, Maria M; Posch, Florian F; Gerger, Armin A; Pichler, Martin M; Stoeger, Herbert H; Leithner, Andreas A; Heitzer, Ellen E; Liegl-Atzwanger, Bernadette B; Szkandera, Joanna J

Publication Date: 2021

Variant appearance in text: GATA2: P41A

PubMed Link: 34367342

Variant Present in the following documents:

• sj-xlsx-1-tam-10.1177_17588359211029125.xlsx, sheet 1

View BVdb publication page

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Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

Plos Genetics

Byrjalsen, Anna A; Hansen, Thomas V O TVO; Stoltze, Ulrik K UK; Mehrjouy, Mana M MM; Barnkob, Nanna Moeller NM; Hjalgrim, Lisa L LL; Mathiasen, René R; Lautrup, Charlotte K CK; Gregersen, Pernille A PA; Hasle, Henrik H; Wehner, Peder S PS; Tuckuviene, Ruta R; Sackett, Peter Wad PW; Laspiur, Adrian O AO; Rossing, Maria M; Marvig, Rasmus L RL; Tommerup, Niels N; Olsen, Tina Elisabeth TE; Scheie, David D; Gupta, Ramneek R; Gerdes, Anne-Marie AM; Schmiegelow, Kjeld K; Wadt, Karin K

Publication Date: 2020-12

Variant appearance in text: GATA2: 121C>G; Pro41Ala

PubMed Link: 33332384

Variant Present in the following documents:

• pgen.1009231.s001.xlsx, sheet 2

View BVdb publication page

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Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.

British Journal Of Haematology

Kager, Leo L; Jimenez Heredia, Raúl R; Hirschmugl, Tatjana T; Dmytrus, Jasmin J; Krolo, Ana A; Müller, Heiko H; Bock, Christoph C; Zeitlhofer, Petra P; Dworzak, Michael M; Mann, Georg G; Holter, Wolfgang W; Haas, Oskar O; Boztug, Kaan K

Publication Date: 2018-07

Variant appearance in text: GATA2: 121C>G; P41A

PubMed Link: 29797310

Variant Present in the following documents:

• Main text
• BJH-182-251.pdf

View BVdb publication page

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: GATA2: 121C>G; Pro41Ala; rs143590990

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 2

View BVdb publication page

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Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies.

Blood Advances

Drazer, Michael W MW; Kadri, Sabah S; Sukhanova, Madina M; Patil, Sushant A SA; West, Allison H AH; Feurstein, Simone S; Calderon, Dalein A DA; Jones, Matthew F MF; Weipert, Caroline M CM; Daugherty, Christopher K CK; Ceballos-López, Adrián A AA; Raca, Gordana G; Lingen, Mark W MW; Li, Zejuan Z; Segal, Jeremy P JP; Churpek, Jane E JE; Godley, Lucy A LA

Publication Date: 2018-01-23

Variant appearance in text: GATA2: Pro41Ala; rs143590990

PubMed Link: 29365323

Variant Present in the following documents:

• Main text

View BVdb publication page

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GATA2 deficiency and related myeloid neoplasms.

Seminars In Hematology

Wlodarski, Marcin W MW; Collin, Matthew M; Horwitz, Marshall S MS

Publication Date: 2017-04

Variant appearance in text: GATA2: Pro41Ala

PubMed Link: 28637621

Variant Present in the following documents:

• Main text
• nihms878314.pdf

View BVdb publication page

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Pathogenic Mutations in Cancer-Predisposing Genes: A Survey of 300 Patients with Whole-Genome Sequencing and Lifetime Electronic Health Records.

Plos One

He, Karen Y KY; Zhao, Yiqing Y; McPherson, Elizabeth W EW; Li, Quan Q; Xia, Fan F; Weng, Chunhua C; Wang, Kai K; He, Max M MM

Publication Date: 2016

Variant appearance in text: GATA2: P41A; rs143590990

PubMed Link: 27930734

Variant Present in the following documents:

• pone.0167847.s002.xls, sheet 1

View BVdb publication page

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GATA family transcriptional factors: emerging suspects in hematologic disorders.

Experimental Hematology & Oncology

Gao, Juehua J; Chen, Yi-Hua YH; Peterson, LoAnn C LC

Publication Date: 2015

Variant appearance in text: GATA2: 121C>G; Pro41Ala

PubMed Link: 26445707

Variant Present in the following documents:

• Main text
• 40164_2015_Article_24.pdf

View BVdb publication page

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Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature.

Journal Of Hematology & Oncology

Gao, Juehua J; Gentzler, Ryan D RD; Timms, Andrew E AE; Horwitz, Marshall S MS; Frankfurt, Olga O; Altman, Jessica K JK; Peterson, LoAnn C LC

Publication Date: 2014-04-22

Variant appearance in text: GATA2: Pro41Ala

PubMed Link: 24754962

Variant Present in the following documents:

• Main text
• 1756-8722-7-36.pdf

View BVdb publication page

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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics

Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO

Publication Date: 2013-03

Variant appearance in text: rs143590990

PubMed Link: 23555315

Variant Present in the following documents:

• pgen.1003419.s009.xlsx, sheet 1

View BVdb publication page

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