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Journal Articles

ERCC6L2 Disease and Shwachman-Diamond Syndrome Exhibit Alterations in Metabolomes in Patient Fibroblasts

Ilse Kaaja, Suvi Douglas, Anni I Nieminen, Eija Pirinen, Ulla Wartiovaara-Kautto, Outi Kilpivaara

Blood (2023) 142 (Supplement 1): 5664.

https://doi.org/10.1182/blood-2023-173924

Published: 2023

Journal Articles

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Blood (2023) 141 (23): 2853–2866.

https://doi.org/10.1182/blood.2022019425

Published: 2023

Includes: Supplemental data

Journal Articles

Subsequent Malignant Neoplasms after Primary Hematological Malignancy in Adult Patients (Aged ≥20 Years) - High Risk of Hodgkin Lymphoma in Patients with Chronic Lymphocytic Leukemia

Rosa Rönkkö, Aapeli Nevala, Outi Kilpivaara, Janne Pitkäniemi, Nea Malila, Ulla Wartiovaara-Kautto

Blood (2022) 140 (Supplement 1): 9439–9440.

https://doi.org/10.1182/blood-2022-165168

Published: 2022

Journal Articles

Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

Marja Hakkarainen, Suvi P. M. Douglas, Tom Vulliamy, Inderjeet Dokal, Jean Soulier, Lise Larcher, Riitta Niinimäki, Timo Siitonen, Eva Hellstrom Lindberg, Gisela Barbany, Bianca Tesi, Amir Asher Kuperman, Hannah Tamary, Sharon Jackson, Outi Kilpivaara, Ulla Wartiovaara-Kautto

Blood (2021) 138 (Supplement 1): 864.

https://doi.org/10.1182/blood-2021-145039

Published: 2021

Journal Articles

Germline Gene Aberrations Are Common in High-Risk Adult and Pediatric Acute Lymphoblastic Leukemia Patients

Suvi Douglas, MSc, Atte Lahtinen, BM, Jessica Koski, BSc, Lilli Leimi, MD, Mikko A Keränen, MD PhD, Kimmo Porkka, Caroline A Heckman, PhD, Kirsi Jahnukainen, MD PhD, Outi Kilpivaara, PhD, Ulla Wartiovaara-Kautto, MD PhD

Blood (2019) 134 (Supplement_1): 1472.

https://doi.org/10.1182/blood-2019-126657

Published: 2019

Journal Articles

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

Suvi P. M. Douglas, Pihla Siipola, Panu E. Kovanen, Marja Pyörälä, Sakari Kakko, Eeva-Riitta Savolainen, Urpu Salmenniemi, Katri Orte, Soili Kytölä, Esa Pitkänen, Kimmo Porkka, Outi Kilpivaara, Ulla Wartiovaara-Kautto

Blood (2019) 133 (25): 2724–2728.

https://doi.org/10.1182/blood-2019-01-896233

Published: 2019

Includes: Supplemental data

Journal Articles

Insights into Hematopoiesis in GATA2 Deficiency Using Single-Cell Transcriptomics

Elina A.M. Hirvonen, MSc, Inari Natri, MB, Mattila Pirkko, PhD, Jenni Lahtela, PhD, Pitkänen Esa, PhD, Ulla Wartiovaara-Kautto, MD PhD, Outi Kilpivaara, PhD

Blood (2017) 130 (Supplement 1): 2478.

https://doi.org/10.1182/blood.V130.Suppl_1.2478.2478

Published: 2017

Journal Articles

Aspariginase-Triggered Hyperglycerimedia: An Analysis on Germline Regulatory Gene Variations in Adult Acute Lymphoblastic Leukemia Patients

Sari Kytölä, MD, Suvi Rantamo, MSc, Matti Jauhiainen, PhD, Kimmo Porkka, MD PhD, Outi Kilpivaara, PhD, Ulla Wartiovaara-Kautto, MD PhD

Blood (2017) 130 (Supplement 1): 1287.

https://doi.org/10.1182/blood.V130.Suppl_1.1287.1287

Published: 2017

Journal Articles

A Novel Homozygous CTC1 Germline Mutation Associated with Bone Marrow Failure

Ulla Wartiovaara-Kautto, MD PhD, Elina A. M. Hirvonen, MSc, Kaisa Kettunen, PhD, Anna Nordberg, PhD, Janna Saarela, MD PhD, Kimmo Porkka, MD PhD, Tero Kivelä, MD PhD, Tarja Linnankivi, MD PhD, Outi Kilpivaara, PhD

Blood (2016) 128 (22): 1508.

https://doi.org/10.1182/blood.V128.22.1508.1508

Published: 2016

Journal Articles

Identification of Novel Germline Variants in Early-Onset Familial Classical Hodgkin Lymphoma with Exome Sequencing

Outi Kilpivaara, PhD, Heikki Ristolainen, Peter Kamper, Minna Taskinen, PhD, Silva Saarinen, MD PhD, Sirpa Leppä, MD PhD, Francesco d'Amore, Aaltonen A. Lauri, Professor

Blood (2014) 124 (21): 4402.

https://doi.org/10.1182/blood.V124.21.4402.4402

Published: 2014

Journal Articles

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

Raajit Rampal, Fatima Al-Shahrour, Omar Abdel-Wahab, Jay P. Patel, Jean-Philippe Brunel, Craig H. Mermel, Adam J. Bass, Jennifer Pretz, Jihae Ahn, Todd Hricik, Outi Kilpivaara, Martha Wadleigh, Lambert Busque, D. Gary Gilliland, Todd R. Golub, Benjamin L. Ebert, Ross L. Levine

Blood (2014) 123 (22): e123–e133.

https://doi.org/10.1182/blood-2014-02-554634

Published: 2014

Includes: Supplemental data

Journal Articles

Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a

Alfonso Quintás-Cardama, Omar Abdel-Wahab, Taghi Manshouri, Outi Kilpivaara, Jorge Cortes, Anne-Laure Roupie, Su-Jiang Zhang, David Harris, Zeev Estrov, Hagop Kantarjian, Ross L. Levine, Srdan Verstovsek

Blood (2013) 122 (6): 893–901.

https://doi.org/10.1182/blood-2012-07-442012

Published: 2013

Includes: Supplemental data

Journal Articles

Genetic and Functional Investigation of Germline JAK2 Alleles That Predispose to Myeloproliferative Neoplasms

Alison M Schram, Xing Xu, Outi Kilpivaara, PhD, Semanti Mukherjee, Aaron D Viny, MD, MS, Olga Guryanova, MD, PhD, Robert J Klein, PhD, Ross L Levine, MD

Blood (2011) 118 (21): 124.

https://doi.org/10.1182/blood.V118.21.124.124

Published: 2011

Journal Articles

Heterodimeric JAK-STAT Activation As a Mechanism of Persistence to JAK2 Inhibitor Therapy

Neha Bhagwat, Priya Koppikar, Outi Kilpivaara, Taghi Manshouri, PhD, Mazhar Adli, Ann Mullally, MD, Omar Abdel-Wahab, MD, Laura Leung, Abby Weinstein, Sachie Marubayashi, Aviva Goel, Mithat Gonen, Zeev Estrov, Benjamin L. Ebert, MD, D.Phil, Gabriela Chiosis, PhD, Bradley Bernstein, Srdan Verstovsek, MD, PhD, Ross L Levine, MD

Blood (2011) 118 (21): 122.

https://doi.org/10.1182/blood.V118.21.122.122

Published: 2011

Journal Articles

High Rates of Molecular Response After Long-Term Follow-up of Patients with Advanced Essential Thrombocythemia (ET) or Polycythemia Vera (PV) Treated with Pegylated Interferon-ALFA-2A (PEG-IFN-α-2A; PEGASYS)

Alfonso Quintás-Cardama, MD, Ross Levine, MD, Taghi Manshouri, Outi Kilpivaara, Hagop M. Kantarjian, MD, Srdan Verstovsek, MD, PhD

Blood (2010) 116 (21): 461.

https://doi.org/10.1182/blood.V116.21.461.461

Published: 2010

Journal Articles

MYBL2 Is a Candidate Tumor Suppressor Gene In MDS

Stefan Heinrichs, Lily Conover, Carlos E. Bueso-Ramos, Outi Kilpivaara, Ross Levine, MD, Kristen Stevenson, Donna Neuberg, ScD, Rafael Bejar, MD, PhD, Benjamin L. Ebert, MD, DPhil, Guillermo Garcia-Manero, MD, Hagop M. Kantarjian, MD, A. Thomas Look, MD

Blood (2010) 116 (21): 1865.

https://doi.org/10.1182/blood.V116.21.1865.1865

Published: 2010

Journal Articles

Mir-9 Is Aberrantly Expressed In MPN Patients and Accelerates Erythropoietic Cell Growth and Differentiation

Xiaoqing Lin, Kim Rice, PhD, Martin Carroll, MD, Fabricio Costa, PhD, Outi Kilpivaara, Marcelo B. Soares, PhD, Ross Levine, MD, Jonathan D. Licht, MD

Blood (2010) 116 (21): 1983.

https://doi.org/10.1182/blood.V116.21.1983.1983

Published: 2010

Journal Articles

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies

Blood (2009) 114 (1): 144–147.

https://doi.org/10.1182/blood-2009-03-210039

Published: 2009

Includes: Supplemental data

NARROW

ERCC6L2 Disease and Shwachman-Diamond Syndrome Exhibit Alterations in Metabolomes in Patient Fibroblasts

The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia

Subsequent Malignant Neoplasms after Primary Hematological Malignancy in Adult Patients (Aged ≥20 Years) - High Risk of Hodgkin Lymphoma in Patients with Chronic Lymphocytic Leukemia

Multinational Study on the Clinical and Genetic Features of the ERCC6L2-Disease

Germline Gene Aberrations Are Common in High-Risk Adult and Pediatric Acute Lymphoblastic Leukemia Patients

ERCC6L2 defines a novel entity within inherited acute myeloid leukemia

Insights into Hematopoiesis in GATA2 Deficiency Using Single-Cell Transcriptomics

Aspariginase-Triggered Hyperglycerimedia: An Analysis on Germline Regulatory Gene Variations in Adult Acute Lymphoblastic Leukemia Patients

A Novel Homozygous CTC1 Germline Mutation Associated with Bone Marrow Failure

Identification of Novel Germline Variants in Early-Onset Familial Classical Hodgkin Lymphoma with Exome Sequencing

Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

Molecular analysis of patients with polycythemia vera or essential thrombocythemia receiving pegylated interferon α-2a

Genetic and Functional Investigation of Germline JAK2 Alleles That Predispose to Myeloproliferative Neoplasms

Heterodimeric JAK-STAT Activation As a Mechanism of Persistence to JAK2 Inhibitor Therapy

High Rates of Molecular Response After Long-Term Follow-up of Patients with Advanced Essential Thrombocythemia (ET) or Polycythemia Vera (PV) Treated with Pegylated Interferon-ALFA-2A (PEG-IFN-α-2A; PEGASYS)

MYBL2 Is a Candidate Tumor Suppressor Gene In MDS

Mir-9 Is Aberrantly Expressed In MPN Patients and Accelerates Erythropoietic Cell Growth and Differentiation

Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies

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American Society of Hematology

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American Society of Hematology

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