Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 354 Records) |
Query Trace: Myelodysplastic Syndromes[original query] |
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Characteristics and clinical outcomes of patients with myeloid malignancies and DDX41 variants. American journal of hematology 2023 9 . Alex Bataller, Sanam Loghavi, Yoheved Gerstein, Alexandre Bazinet, Koji Sasaki, Kelly S Chien, Danielle Hammond, Guillermo Montalban-Bravo, Gautam Borthakur, Nicholas Short, Ghayas C Issa, Tapan M Kadia, Naval Daver, Guilin Tang, Andres Quesada, Keyur P Patel, Farhad Ravandi, Warren Fiskus, Cristopher P Mill, Hagop M Kantarjian, Kapil Bhalla, Guillermo Garcia-Manero, Betul Oran, Courtney D DiNar |
Phase 1 study of JNJ-64619178, a protein arginine methyltransferase 5 inhibitor, in patients with lower-risk myelodysplastic syndromes. Leukemia research 2023 9 134 107390. Tamanna Haque, Felix López Cadenas, Blanca Xicoy, Ana Alfonso-Pierola, Uwe Platzbecker, Irit Avivi, Andrew M Brunner, Jöerg Chromik, Daniel Morillo, Manish R Patel, Jose Falantes, Heather A Leitch, Ulrich Germing, Meir Preis, Laurie Lenox, Josh Lauring, Regina J Brown, Anna Kalota, Jaydeep Mehta, Friederike Pastore, Junchen Gu, Pankaj Mistry, David Valcárc |
Impact of single versus multiple spliceosome mutations on myelodysplastic syndrome. Journal of clinical and experimental hematopathology : JCEH 2023 9 63 (3): 173-176. Pakasticali Nagehan, Mirza Sabbir, Jinming Song, Hussaini Mohamm |
U2AF1 pathogenic variants in myeloid neoplasms and precursor states: distribution of co-mutations and prognostic heterogeneity. Blood cancer journal 2023 9 13 (1): 149. Talha Badar, Yenny A Moreno Vanegas, Ahmad Nanaa, James M Foran, Aref Al-Kali, Abhishek Mangaonkar, Hemant Murthy, Hassan B Alkhateeb, David Viswanatha, Rong He, Mithun Shah, Cecilia Arana Yi, Mark R Litzow, Naseema Gangat, Ayalew Tefferi, Mrinal M Patna |
Reliability of flow-cytometry in diagnosis and prognostic stratification of myelodysplastic syndromes: correlations with morphology and mutational profile. Annals of hematology 2023 8 . Luca Guarnera, Emiliano Fabiani, Cristina Attrotto, Hajro Hajrullaj, Antonio Cristiano, Roberto Latagliata, Susanna Fenu, Francesco Buccisano, Maria Irno-Consalvo, Consuelo Conti, Maria Teresa Voso, Luca Mauril |
Autoimmune HLA Alleles and Neoepitope Presentation Predict Post-Allogenic Transplant Relapse. Journal of immunotherapy and precision oncology 2023 8 6 (3): 127-132. Andrea Castro, Aaron M Goodman, Zachary Rane, James V Talwar, Garrett M Frampton, Gerald P Morris, Scott M Lippman, Xinlian Zhang, Razelle Kurzrock, Hannah Cart |
Next-generation sequencing of baseline genetic mutations and outcomes of eltrombopag and azacitidine therapy in patients with myelodysplastic syndromes and thrombocytopenia: Data from the SUPPORT clinical trial. EJHaem 2023 8 4 (3): 876-881. Pedro Marques Ramos, Jeea Choi, Catarina D Campbell, Ying A Wang, Celine Pallaud, Michael Dickinson, Amit Verma, Moshe Mittelman, Uwe Platzbecker, Honar Cherif, Pierre Fena |
Outlier Expression of Isoforms by Targeted or Total RNA Sequencing Identifies Clinically Significant Genomic Variants in Hematolymphoid Tumors. The Journal of molecular diagnostics : JMD 2023 7 . Harrison K Tsai, Tasos Gogakos, Va Lip, Jonathan M Tsai, Yen-Der Li, Adam S Fisch, Jonathan Weiss, Weiping Yang, Leslie Grimmett, Daniel DiToro, Eva J Schaefer, R Coleman Lindsley, Thai Hoa Tran, Maxime Caron, Sylvie Langlois, Daniel Sinnett, Yana Pikman, Valentina Nardi, Annette S Kim, Lewis B Silverman, Marian H Harr |
Genomic Data Heterogeneity across Molecular Diagnostic Laboratories: A Real-World Connect Myeloid Disease Registry Perspective on Variabilities in Genomic Assay Methodology and Reporting. The Journal of molecular diagnostics : JMD 2023 7 25 (8): 611-618. Jay L Patel, Harry P Erba, Michael R Savona, David L Grinblatt, Maria Clark, Tyler C Clive, Trevor B Smart, Adeola Y Makinde, Irene S DeGutis, Edward Yu, Julie M Eggington, Tracy I Geor |
Correlation analysis between auto-immunological and mutational profiles in myelodysplastic syndromes. Inflammation research : official journal of the European Histamine Research Society ... [et al.] 2023 7 . Antonio Cristiano, Riccardo Belardi, Hajro Hajrullaj, Emiliano Fabiani, Giulia Falconi, Elisa Galossi, Sergio Bernardini, Maria Teresa Voso, Marzia Nuccetel |
Prevalence and significance of DDX41 gene variants in the general population. Blood 2023 7 . Sruthi Cheloor Kovilakam, Muxin Gu, William G Dunn, Ludovica Marando, Clea Barcena, Serena Nik-Zainal, Irina Mohorianu, Siddhartha Kar, Margarete Alice Fabre, Pedro M Quiros, George S Vassili |
Biallelic disruption of DDX41 activity is associated with distinct genomic and immunophenotypic hallmarks in acute leukemia. Frontiers in oncology 2023 7 13 1153082. Anne Tierens, Elizabeth Kagotho, Satoru Shinriki, Andrew Seto, Adam C Smith, Melanie Care, Dawn Maze, Hassan Sibai, Karen W Yee, Andre C Schuh, Dennis Dong Hwan Kim, Vikas Gupta, Mark D Minden, Hirotaka Matsui, José-Mario Capo-Chic |
Analysis of core mutation and TET2/ASXL1 mutations DNA methylation profile in myelodysplastic syndrome. Hematology (Amsterdam, Netherlands) 2023 6 28 (1): 2220222. Yue Feng, Haiping Liang, Meining Han, Xingchun Luo, Yu Zhu, Bei L |
A Randomised Comparison of CPX-351 and FLAG-Ida in Adverse Karyotype AML and High-Risk MDS: The UK NCRI AML19 Trial. Blood advances 2023 5 . Jad Othman, Charlotte S Wilhelm-Benartzi, Richard Dillon, Steven Knapper, Sylvie D Freeman, Leona M Batten, Joanna Canham, Emily L Hinson, Julie Wych, Sophie Betteridge, William Villiers, Michelle Kleeman, Amanda Frances Gilkes, Nicola Potter, Ulrik Overgaard, Priyanka Mehta, Panagiotis Kottaridis, Jamie Cavenagh, Claire Jane Hemmaway, Claire Arnold, Mike Dennis, Nigel H Russe |
Pediatric Tumors and Developmental Anomalies: A French Nationwide Cohort Study. The Journal of pediatrics 2023 5 113451. Michaela Semeraro, Cyrielle Fouquet, Yoann Vial, Jeanne Amiel, Louise Galmiche, Célia Cretolle, Thomas Blanc, Valérie Jolaine, Nicolas Garcelon, Natacha Entz-Werle, Isabelle Pellier, Cécile Vérité, SophieTaque, Aurore Coulomb, Arnaud Petit, Nadège Corradini, Naim Bouazza, Brigitte Lacour, Jacqueline Clavel, Laurence Brugières, Franck Bourdeaut, Sabine Sarnacki, |
The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts. Research square 2023 4 . In Young Choi, Jonathan Ling, Jian Zhang, Eric Helmenstine, Wencke Walter, Riley Bergman, Céline Philippe, James Manley, Kevin Rouault-Pierre, Bing Li, Daniel Wiseman, Madhu Ouseph, Elsa Bernard, Xiao Li, Torsten Haferlach, Salman Fazal, Tania Jain, Christopher Gocke, Amy DeZern, W Brian Dalt |
Clinical implications of myeloid malignancy?related somatic mutations in aplastic anemia. Clinical and experimental medicine 2023 4 . Lingling Liu, Danfeng Zhang, Qiuhao Fu, Jingdi Wang, Jifeng Yu, Dandan Chen, Fang Wang, Rong Guo, Xinsheng Xie, Zhongxing Jiang, Yingmei |
Whole-genome sequencing identifies novel predictors for hematopoietic cell transplant outcomes for patients with myelodysplastic syndrome: a CIBMTR study. Journal of hematology & oncology 2023 4 16 (1): 37. Zhang Tao, Auer Paul, Dong Jing, Cutler Corey, Dezern Amy E, Gadalla Shahinaz M, Deeg H Joachim, Nazha Aziz, Carlson Karen-Sue, Spellman Stephen, Bolon Yung-Tsi, Saber Wa |
Clinical outcomes and characteristics of patients with TP53-mutated myelodysplastic syndromes. Hematology (Amsterdam, Netherlands) 2023 3 28 (1): 2181773. Zhang Lijuan, Chen Kankan, Li Yingying, Chen Qiuni, Shi Wenting, Ji Tingting, Tao Hong, He Zhengmei, Wang Chunling, Yu Lia |
Post-azacitidine clone size predicts outcome of patients with myelodysplastic syndromes and related myeloid neoplasms. Blood advances 2023 3 . Nannya Yasuhito, Tobiasson Magnus, Sato Shinya, Bernard Elsa, Ohtake Shigeki, Takeda June, Creignou Maria, Zhao Lanying, Kusakabe Manabu, Shibata Yuhei, Nakamura Nobuhiko, Watanabe Mizuki, Hiramoto Nobuhiro, Shiozawa Yusuke, Shiraishi Yuichi, Tanaka Hiroko, Yoshida Kenichi, Kakiuchi Nobuyuki, Makishima Hideki, Nakagawa Masahiro Marshall, Usuki Kensuke, Watanabe Mitsumasa, Imada Kazunori, Handa Hiroshi, Taguchi Masataka, Kiguchi Toru, Ohyashiki Kazuma, Ishikawa Takayuki, Takaori-Kondo Akifumi, Tsurumi Hisashi, Kasahara Senji, Chiba Shigeru, Naoe Tomoki, Miyano Satoru, Papaemmanuil Elli, Miyazaki Yasushi, Hellström Lindberg Eva, Ogawa Seis |
Prognostic landscape of mitochondrial genome in myelodysplastic syndrome after stem-cell transplantation. Journal of hematology & oncology 2023 3 16 (1): 21. Dong Jing, Buradagunta Christopher Staffi, Zhang Tao, Spellman Stephen, Bolon Yung-Tsi, DeZern Amy E, Gadalla Shahinaz M, Deeg H Joachim, Nazha Aziz, Cutler Corey, Cheng Chao, Urrutia Raul, Auer Paul, Saber Wa |
Single-center, observational study of AML/MDS-EB with IDH1/2 mutations: genetic profile, immunophenotypes, mutational kinetics and outcomes. Hematology (Amsterdam, Netherlands) 2023 2 28 (1): 2180704. Papadopoulou Vasiliki, Schoumans Jacqueline, Basset Valentin, Solly Françoise, Pasquier Jérôme, Blum Sabine, Spertini Olivi |
Sex Disparities in Myelodysplastic Syndromes: Genotype, Phenotype, and Outcomes. Clinical lymphoma, myeloma & leukemia 2023 2 . Tinsley-Vance Sara M, Ali Najla Al, Ball Somedeb, Aguirre Luis E, Jain Akriti G, Hussaini Mohammad Omar, Chan Onyee, Kuykendall Andrew, Sweet Kendra, Lancet Jeffrey, Padron Eric, Sallman David A, Komrokji Rami |
Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes. Scientific reports 2023 2 13 (1): 2641. Konishi Tatsuya, Sadato Daichi, Toya Takashi, Hirama Chizuko, Kishida Yuya, Nagata Akihito, Yamada Yuta, Shingai Naoki, Shimizu Hiroaki, Najima Yuho, Kobayashi Takeshi, Haraguchi Kyoko, Okuyama Yoshiki, Harada Hironori, Ohashi Kazuteru, Harada Yuka, Doki Nori |
A Lower Frequency of Spliceosome Mutations Distinguishes Clonal Cytopenias of Undetermined Significance From Low-Risk Myelodysplastic Syndromes, Despite Inherent Similarities in Genomic, Laboratory, and Clinical Features. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2023 2 36 (3): 100068. Ferrone Christina K, McNaughton Amy J M, Rashedi Iran, Ring Brooke, Buckstein Rena, Tsui Hubert, Rauh Michael |
Validation and comparison of 5th edition World Health Organization classification (WHO 2022) and International Consensus Classification proposals for MDS-SFB31. British journal of haematology 2024 4 . Linlin Liu, Bing Li, Zefeng Xu, Tiejun Qin, Yujiao Jia, Shiqiang Qu, Yudi Zhang, Junying Wu, Wenyu Cai, Lijuan Pan, Qingyan Gao, Meng Jiao, Zhijian Xi |
Combination therapy with venetoclax and azacitidine for the treatment of myelodysplastic syndromes with DDX41 mutations. Hematology (Amsterdam, Netherlands) 2024 4 29 (1): 2338509. Xin Wang, Zhijian Xiao, Tiejun Qin, Zefeng Xu, Yujiao Jia, Shiqiang Qu, Bing Li, Lijuan Pan, Qingyan Gao, Meng Jiao, Robert Peter Ga |
Outcomes and effect of somatic mutations after erythropoiesis stimulating agents in patients with lower-risk myelodysplastic syndromes. Therapeutic advances in hematology 2024 1 15 20406207231218157. Juan Carlos Caballero, Julio Dávila, María López-Pavía, Esperanza Such, Teresa Bernal, Fernando Ramos, Marisa Calabuig, Jesús María Hernández Sánchez, Helena Pomares, Mercedes Sánchez Barba, María Abáigar, Bernardo González, Brayan Merchán, Reyes Sancho-Tello, Marta Callejas, Carolina Muñoz-Novas, Carlos Cerveró, Guillermo Sanz, Jesús María Hernández Rivas, María Díez Campe |
Analysis of gene mutation characteristics and its correlation with prognosis in patients with myelodysplastic syndromes. Clinica chimica acta; international journal of clinical chemistry 2024 1 554 117789. Xinyu Yang, Hongyu Zhao, Hanyang Wu, Xiaodong Guo, Hexiao Jia, Wancheng Liu, Yihong Wei, Can Can, Daoxin |
The der(1;7)(q10;p10) defining a distinct profile from -7/del(7q) in myelodysplastic syndromes: A systematic review and meta-analysis. Cancer medicine 2024 1 . Wei Lang, Yingwan Luo, Lu Wang, Yudi Zhang, Chao Hu, Huanping Wang, Hongyan To |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 29, 2024
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