Resultados de procura - Simone Feurstein

Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle por Simone Feurstein

Ligazón do recurso

Germline and somatic drivers in inherited hematologic malignancies por Julian Zoller, Despina Trajanova, Simone Feurstein

Ligazón do recurso

O11: Defining the pleiotropic GATA2 deficiency phenotype for the development of ACMG-AMP variant curation rules for GATA2* por Shruthi Mohan, Eran Tallis, Taylor Walker, Sioban Keel, Marcin Wlodarski, Amy Hsu, Katherine Calvo, Simone Feurstein, Panagiotis Baliakas, Xi Luo, Guimin Gao, David Wu, Lucy Godley

Ligazón do recurso

Concurrent light chain amyloidosis and proximal tubulopathy: Insights into different aggregation behavior—A case report por Simone Feurstein, Julian Zoller, Constantin Schwab, Sarah Schreiner, Heiko Mundt, Iris Breitkreutz, Brigitte Schneider, Jörg Beimler, Martin Zeier, Rüdiger Waldherr, Stefan Gröschel, Carsten Müller‐Tidow, Stefan O. Schönland, Ute Hegenbart

Ligazón do recurso

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predis... por David Wu, Xi Luo, Simone Feurstein, Chimene Kesserwan, Shruthi Mohan, Daniel E. Pineda-Alvarez, Lucy A. Godley, on behalf of the collaborative group of the American Society of Hematology - Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel

Ligazón do recurso

Prognostic tumor sequencing panels frequently identify germ line variants associated with hereditary hematopoietic malignancies por Michael W. Drazer, Sabah Kadri, Madina Sukhanova, Sushant A. Patil, Allison H. West, Simone Feurstein, Dalein A. Calderon, Matthew F. Jones, Caroline M. Weipert, Christopher K. Daugherty, Adrián A. Ceballos-López, Gordana Raca, Mark W. Lingen, Zejuan Li, Jeremy P. Segal, Jane E. Churpek, Lucy A. Godley

Ligazón do recurso

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants por Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C. Porter, Sarah A. Jackson, Sioban Keel, Michael Chicka, Anna L. Brown, Chimene Kesserwan, Anupriya Agarwal, Minjie Luo, Zejuan Li, Justyne E. Ross, Panagiotis Baliakas, Daniel Pineda-Alvarez, Courtney D. DiNardo, Alison A. Bertuch, Nikita Mehta, Tom Vulliamy, Ying Wang, Kim E. Nichols, Luca Malcovati, Michael F. Walsh, Lesley H. Rawlings, Shannon K. McWeeney, Jean Soulier, Anna Raimbault, Mark J. Routbort, Liying Zhang, Gabriella Ryan, Nancy A. Speck, Sharon E. Plon, David Wu, Lucy A. Godley

Ligazón do recurso