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Journal Articles

Severe Congenital Neutropenia-Type 5: Impaired T Cell Proliferation, Aberrant Th1 Cytokine Production, Abnormal Megakaryocytes, and Impaired Platelet Granule Formation in a Patient with VPS45 Deficiency Caused By Uniparental Isodisomy

Masahiro Ueki, Shinsuke Hirabayashi, Daichi Sajiki, Masataka Hasegawa, Yukayo Terashita, Hiroki Ohata, Manabu Wakamatsu, Shunichiro Takezaki, Yuko Cho, Kazuhiko Nakabayashi, Hideki Muramatsu, Takahiro Yamada, Yoshiyuki Takahashi, Atsushi Manabe

Blood (2023) 142 (Supplement 1): 5382.

https://doi.org/10.1182/blood-2023-183059

Published: 2023

Journal Articles

Diagnostic Utility of Proteogenomic Analysis for Inherited Bone Marrow Failure Syndrome

Manabu Wakamatsu, Hideki Muramatsu, Hironori Sato, Masaki Ishikawa, Daisuke Nakajima, Ryo Konno, Yusuke Kawashima, Motoharu Hamada, Yusuke Okuno, Osamu Ohara, Yoshiyuki Takahashi

Blood (2023) 142 (Supplement 1): 1363.

https://doi.org/10.1182/blood-2023-178288

Published: 2023

Journal Articles

Error-Corrected Next-Generation Sequencing Provides a Comprehensive Overview of the Subclonal Mutation Landscape and Its Prognostic Implications in Juvenile Myelomonocytic Leukemia

Daichi Sajiki, Manabu Wakamatsu, Hideki Muramatsu, Yusuke Tsumura, Daiki Yamashita, Ryo Maemura, Ayako Yamamori, Kotaro Narita, Shinsuke Kataoka, Atsushi Narita, Noriko Shimasaki, Nobuhiro Nishio, Yoshiyuki Takahashi

Blood (2023) 142 (Supplement 1): 3199.

https://doi.org/10.1182/blood-2023-189160

Published: 2023

Journal Articles

Diagnostic Whole Exome Sequencing for 166 Patients with Inherited Bone Marrow Failure Syndrome

Blood (2020) 136 (Supplement 1): 9.

https://doi.org/10.1182/blood-2020-143241

Published: 2020

Journal Articles

DNA Methylation As a Biomarker of Outcome in JMML: An International Effort Towards Clinical Implementation

Julia Meyer, PhD, Maximillian Schönung, Christian Flotho, MD PhD, Adam B. Olshen, PhD, Mark Hartmann, PhD, Christoph Plass, PhD, Yusuke Okuno, MD PhD, Yoshiyuki Takahashi, MD PhD, Norihiro Murakami, MD PhD, Manabu Wakamatsu, MD, Mignon L. Loh, MD, Charlotte M. Niemeyer, MD, Hideki Muramatsu, MD PhD, Daniel B. Lipka, MD, Elliot Stieglitz, MD

Blood (2019) 134 (Supplement_1): 1693.

https://doi.org/10.1182/blood-2019-131279

Published: 2019

Journal Articles

Utility of Newborn Screening for Severe Combined Immunodeficiency and X-Linked Agammaglobulinemia Using TREC and KREC Assays

Manabu Wakamatsu, MD, Hideki Muramatsu, MD PhD, Shinsuke Kataoka, MD, Yusuke Okuno, MD PhD, Sakai Yoshimi, Yoko Nakajima, MD PhD, Tetsuya Ito, MD PhD, Ikuya Tsuge, MD PhD, Seiji Kojima, MD PhD, Yoshiyuki Takahashi, MD PhD

Blood (2019) 134 (Supplement_1): 3604.

https://doi.org/10.1182/blood-2019-126669

Published: 2019

Journal Articles

Genome-Wide Methylation Analysis Using the Digital Restriction Enzyme Analysis of Methylation for Stratification of Patients with Juvenile Myelomonocytic Leukemia

Hironobu Kitazawa, Hideki Muramatsu, MD PhD, Norihiro Murakami, MD PhD, Yusuke Okuno, MD PhD, Manabu Wakamatsu, MD, Taro Yoshida, MD, Masayuki Imaya, MD, Ayako Yamamori, MD, Shunsuke Miwata, MD, Kotaro Narita, MD, Motoharu Hamada, MD PhD, Daisuke Ichikawa, MD, Rieko Taniguchi, MD, Nozomu Kawashima, MD PhD, Eri Nishikawa, MD PhD, Atsushi Narita, Nobuhiro Nishio, MD PhD, Seiji Kojima, MD PhD, Yoshiyuki Takahashi, MD PhD

Blood (2019) 134 (Supplement_1): 2973.

https://doi.org/10.1182/blood-2019-127792

Published: 2019

Journal Articles

Comprehensive Mutational Analysis of Juvenile Myelomonocytic Leukemia Using Whole-Genome Sequencing

Yusuke Okuno, MD PhD, Hideki Muramatsu, MD PhD, Norihiro Murakami, MD PhD, Nozomu Kawashima, MD, Manabu Wakamatsu, MD, Hironobu Kitazawa, Tomoo Ogi, PhD, Yoshiyuki Takahashi, MD PhD

Blood (2019) 134 (Supplement_1): 2974.

https://doi.org/10.1182/blood-2019-121681

Published: 2019

Journal Articles

Detection of Subclonal SETBP1 and JAK3 Mutations in Patients with Juvenile Myelomonocytic Leukemia Using Droplet Digital PCR

Manabu Wakamatsu, MD, Hideki Muramatsu, MD PhD, Norihiro Murakami, MD PhD, Yusuke Okuno, MD PhD, Hironobu Kitazawa, Seiji Kojima, MD PhD, Yoshiyuki Takahashi, MD PhD

Blood (2019) 134 (Supplement_1): 4213.

https://doi.org/10.1182/blood-2019-125354

Published: 2019

NARROW

Severe Congenital Neutropenia-Type 5: Impaired T Cell Proliferation, Aberrant Th1 Cytokine Production, Abnormal Megakaryocytes, and Impaired Platelet Granule Formation in a Patient with VPS45 Deficiency Caused By Uniparental Isodisomy

Diagnostic Utility of Proteogenomic Analysis for Inherited Bone Marrow Failure Syndrome

Error-Corrected Next-Generation Sequencing Provides a Comprehensive Overview of the Subclonal Mutation Landscape and Its Prognostic Implications in Juvenile Myelomonocytic Leukemia

Diagnostic Whole Exome Sequencing for 166 Patients with Inherited Bone Marrow Failure Syndrome

DNA Methylation As a Biomarker of Outcome in JMML: An International Effort Towards Clinical Implementation

Utility of Newborn Screening for Severe Combined Immunodeficiency and X-Linked Agammaglobulinemia Using TREC and KREC Assays

Genome-Wide Methylation Analysis Using the Digital Restriction Enzyme Analysis of Methylation for Stratification of Patients with Juvenile Myelomonocytic Leukemia

Comprehensive Mutational Analysis of Juvenile Myelomonocytic Leukemia Using Whole-Genome Sequencing

Detection of Subclonal SETBP1 and JAK3 Mutations in Patients with Juvenile Myelomonocytic Leukemia Using Droplet Digital PCR

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American Society of Hematology

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ASH Publications

American Society of Hematology

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