Literature DB >> 32488879

A synonymous GATA2 variant underlying familial myeloid malignancy with striking intrafamilial phenotypic variability.

Lucy C Fox1,2,3, Michelle Tan4, Anna L Brown5,6,7,8, Peer Arts5,6, Ella Thompson1,3, Georgina L Ryland1, Jennifer Lickiss1, Hamish S Scott5,6,7,8,9,10, Nicola K Poplawski7,11, Kerry Phillips6,11, Neil A Came1,3, Paul James3,12, Stephen B Ting4, David S Ritchie2,3, Jeff Szer2,3, Christopher N Hahn5,6,7,8, Anthony Schwarer4, Piers Blombery1,2,3.   

Abstract

Entities:  

Year:  2020        PMID： 32488879     DOI： 10.1111/bjh.16819

Source DB:  PubMed          Journal:  Br J Haematol        ISSN： 0007-1048            Impact factor:   6.998


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  5 in total

1.  Association of unbalanced translocation der(1;7) with germline GATA2 mutations.

Authors:  Emilia J Kozyra; Gudrun Göhring; Dennis D Hickstein; Katherine R Calvo; Courtney D DiNardo; Michael Dworzak; Valerie de Haas; Jan Starý; Henrik Hasle; Akiko Shimamura; Mark D Fleming; Hiroto Inaba; Sara Lewis; Amy P Hsu; Steven M Holland; Danielle E Arnold; Cristina Mecucci; Siobán B Keel; Alison A Bertuch; Kiran Tawana; Shlomit Barzilai; Shinsuke Hirabayashi; Masahiro Onozawa; Shaohua Lei; Helena Alaiz; Hajnalka Andrikovics; David Betts; Berna H Beverloo; Jochen Buechner; Martin Čermák; José Cervera; Olga Haus; Kirsi Jahnukainen; Kalliopi N Manola; Karin Nebral; Francesco Pasquali; Joelle Tchinda; Dominik Turkiewicz; Nadine Van Roy; Zuzana Zemanova; Victor B Pastor; Brigitte Strahm; Peter Noellke; Charlotte M Niemeyer; Brigitte Schlegelberger; Ayami Yoshimi; Marcin W Wlodarski
Journal:  Blood       Date:  2021-12-09       Impact factor: 22.113

Review 2.  Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes.

Authors:  Sushree S Sahoo; Emilia J Kozyra; Marcin W Wlodarski
Journal:  Best Pract Res Clin Haematol       Date:  2020-07-29       Impact factor: 3.020

Review 3.  Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?

Authors:  Emery H Bresnick; Mabel M Jung; Koichi R Katsumura
Journal:  Blood Adv       Date:  2020-09-22

4.  Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Authors:  Cristina Andrés-Zayas; Julia Suárez-González; Gabriela Rodríguez-Macías; Nieves Dorado; Santiago Osorio; Patricia Font; Diego Carbonell; María Chicano; Paula Muñiz; Mariana Bastos; Mi Kwon; José Luis Díez-Martín; Ismael Buño; Carolina Martínez-Laperche
Journal:  Mol Oncol       Date:  2021-07-16       Impact factor: 6.603

5.  GATA2 deficiency syndrome: A decade of discovery.

Authors:  Claire C Homan; Parvathy Venugopal; Peer Arts; Nur H Shahrin; Simone Feurstein; Lesley Rawlings; David M Lawrence; James Andrews; Sarah L King-Smith; Natasha L Harvey; Anna L Brown; Hamish S Scott; Christopher N Hahn
Journal:  Hum Mutat       Date:  2021-08-31       Impact factor: 4.700
  5 in total

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