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Mark D. Fleming

Boston Children's Hospital

81H指数
400论文数
3.2W被引数
收录论文 139
发表时间
An adaptor for feedback regulation of heme biosynthesis by a mitochondrial protease线粒体蛋白酶反馈调控血红素生物合成的适配器
errScience
IF45.8
err2026-07-30
err0
PREAI
errThomas Cottle; Lydia Joh; Cori Posner; Adam DeCosta; Dean R. Campagna; Mark D. Fleming; Sarah Ducamp; Julia R. Kardon
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Alternative start codon selection shapes mitochondrial function and rare human diseases替代起始密码子选择塑造线粒体功能与罕见人类疾病
err2025-11-07
err0
errOAAI
errJimmy Ly; Matteo Di Bernardo; Yi Fei Tao; Ekaterina Khalizeva; Christopher J. Giuliano; Sebastian Lourido; Mark D. Fleming; Iain M. Cheeseman
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GENETIC RE-EVALUATION OF SDS-LIKE AND NEUTROPENIA CONDITIONS
err2025-11-01
err0
errOAAI
errReed, Helen D.; Brnich, Sarah; Gudera, Jonas; Ditroia, Stephanie; O'donnell-Luria, Anne; Li, Meng-Ju; Yang, Hermann; Brundige, Karyn; Loveless, Sara; Cheng, Leah; Andresen, Felicia; Fleming, Mark; Myers, Kasiani; Shimamura, Akiko
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Germline LCP1 mutations cause immunodeficiency with neutropenia, monocytopenia, lymphopenia and defective cytokinesis生殖系LCP1基因突变导致免疫缺陷,伴有中性粒细胞减少、单核细胞减少、淋巴细胞减少以及细胞质分裂缺陷。
err2025-10-09
err0
errOAAI
errThijs van Bergen; Dennis A. Bosch; Christine Bellanné-Chantelot; Roger Mulet-Lazaro; Jacob R. Bledsoe; Lanpeng Chen; Hans W.J. de Looper; Claire van Dijk; Mariette N.D. ter Borg; Eric M.J. Bindels; Remco M. Hoogenboezem; Onno Roovers; Patricia A. Olofsen; Marije Bartels; Joris van Montfrans; Puck Breed; Elisabeth Salzer; Marloes G. Holierhoek; Brigitte Nelken; Blandine Beaupain; Mark D. Fleming; Akiko Shimamura; Marc H.G.P. Raaijmakers; Jean Donadieu; Peter E. Newburger; Ivo P. Touw; Anna M. Aalbers
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Genomic profiling of pediatric mycosis fungoides, lymphomatoid papulosis z, and primary cutaneous anaplastic large cell lymphoma identifies recurrent tyrosine kinase gene fusions儿童真菌样霉菌病、淋巴瘤样丘疹病Z和原发性皮肤间变性大细胞淋巴瘤的基因组分析鉴定出复发性酪氨酸激酶基因融合。
err2025-10-08
err0
PREAI
errGrant M. Fischer; Harrison K. Tsai; Jennifer Huang; Mark C. Mochel; Sam Sadigh; Zenggang Pan; Meagan Montesion; Erik A. Williams; Mark Sabbagh; Paolo Chetta; Va Lip; Judith A. Ferry; Julie D.R. Reimann; Lyn Duncan; Steven Chen; Thomas Kupper; Marilyn G. Liang; Lynda M. Vrooman; Jessica Pollard; Dimitra Pouli; Mark D. Fleming; Birgitta Schmidt; Marian H. Harris; Jacob R. Bledsoe
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The GLYT1 inhibitor bitopertin mitigates erythroid PPIX production and liver disease in erythroid protoporphyriaGLYT1抑制剂bitopertin可减轻红系PPIX产生及原卟啉症引起的肝脏疾病
err2025-09-16
err0
errOAAI
errDucamp, Sarah; Wu, Min; Putra, Juan; Campagna, Dean R.; Xiang, Yi; Hong, Vu; Heeney, Matthew M.; Dickey, Amy K.; Leaf, Rebecca K.; Fleming, Mark D.; Macdonald, Brian; Schmidt, Paul J.
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Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases通过对超过6,500个罕见病家庭的外显子组和基因组测序数据进行系统分析,实现了线粒体DNA变异的检测,从而解决了未确诊病例。
err2025-04-15
err0
errOAAI
errSarah L. Stenton; Kristen Laricchia; Nicole J. Lake; Sushma Chaluvadi; Vijay Ganesh; Stephanie DiTroia; Ikeoluwa Osei-Owusu; Lynn Pais; Emily O’Heir; Christina Austin-Tse; Melanie O’Leary; Mayada Abu Shanap; Chelsea Barrows; Seth Berger; Carsten G. Bönnemann; Kinga M. Bujakowska; Dean R. Campagna; Alison G. Compton; Sandra Donkervoort; Mark D. Fleming; Anne O’Donnell-Luria
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X-linked sideroblastic anemia in femalesX-连锁铁粒幼细胞贫血(女性)
errBLOOD
IF23.1
err2025-02-05
err0
PREAI
errDucamp, Sarah; Campagna, Dean R.; Sendamarai, Anoop K.; Schmidt, Paul J.; Tsai, Harrison K.; Heeney, Matthew M.; Bottomley, Sylvia S.; Fleming, Mark D.
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Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency
err2024-12-01
err0
errOAAI
errBick, Nolan R.; Dreishpoon, Margaret B.; Perry, Ava; Rogachevskaya, Anna; Bottomley, Sylvia S.; Fleming, Mark D.; Ducamp, Sarah; Tsvetkov, Peter
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Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease
err2024-05-01
err7
errOAAI
errLemire, Gabrielle; Sanchis-Juan, Alba; Russell, Kathryn; Baxter, Samantha; Chao, Katherine R.; Singer-Berk, Moriel; Groopman, Emily; Wong, Isaac; England, Eleina; Goodrich, Julia; Pais, Lynn; Austin-Tse, Christina; DiTroia, Stephanie; O'Heir, Emily; Ganesh, Vijay S.; Wojcik, Monica H.; Evangelista, Emily; Snow, Hana; Osei-Owusu, Ikeoluwa; Fu, Jack; Singh, Mugdha; Mostovoy, Yulia; Huang, Steve; Garimella, Kiran; Kirkham, Samantha L.; Neil, Jennifer E.; Shao, Diane D.; Walsh, Christopher A.; Argilli, Emanuela; Le, Carolyn; Sherr, Elliott H.; Gleeson, Joseph G.; Shril, Shirlee; Schneider, Ronen; Hildebrandt, Friedhelm; Sankaran, Vijay G.; Madden, Jill A.; Genetti, Casie A.; Beggs, Alan H.; Agrawal, Pankaj B.; Bujakowska, Kinga M.; Place, Emily; Pierce, Eric A.; Donkervoort, Sandra; Boennemann, Carsten G.; Gallacher, Lyndon; Stark, Zornitza; Tan, Tiong Yang; White, Susan M.; Toepf, Ana; Straub, Volker; Fleming, Mark D.; Pollak, Martin R.; Ounap, Katrin; Pajusalu, Sander; Donald, Kirsten A.; Bruwer, Zandre; Ravenscroft, Gianina; Laing, Nigel G.; MacArthur, Daniel G.; Rehm, Heidi L.; Talkowski, Michael E.; Brand, Harrison; O'Donnell-Luria, Anne
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Comprehensive Genomic Analysis Identi fi es a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-De fi cient Endemic Setting
err2024-05-01
err1
PREAI
errSharma, Pankaj; Bhatia, Prateek; Singh, Minu; Jamwal, Manu; Pallavelangini, Swetha; Das, Reena; Malhotra, Pankaj; Attri, Savita V.; Ducamp, Sarah; Fleming, Mark D.; Trehan, Amita
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Phase I first-in-human MUC1*targeted autologous CAR T cells for the treatment of metastatic breast cancers
err2024-04-05
err0
PREAI
errBamdad, Cynthia Carol; Mortimer, Joanne E.; Yuan, Yuan; Specht, Jennifer M.; Stewart, Andrew K.; Smagghe, Benoit J.; Lin, Stephen C.; Carter, Mark G.; Synold, Tim W.; Fleming, Mark D.; Hamilton, Stanley R.; Parekh, Vishwas; Walkley, Danica M.; Liu-Michael, Qing; Yi, Kevin R.; Nash, Jac-Leen S.; Nash, Michael J.; Forman, Stephen J.
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Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis
err2024-02-02
err1
errOAAI
errMaynard, Adam G.; Pohl, Nancy K.; Mueller, Annabel P.; Petrova, Boryana; Wong, Alan Y. L.; Wang, Peng; Culhane, Andrew J.; Brook, Jeannette R.; Hirsch, Leah M.; Hoang, Ngoc; Kirkland, Orville; Braun, Tatum; Ducamp, Sarah; Fleming, Mark D.; Li, Hojun; Kanarek, Naama
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Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome
err2023-09-21
err1
errOAAI
errBelgacem, Zacharia H.; Dubois, Sonia M.; Jacoby, Elad; Martin, Paul L.; Parikh, Sumit B.; Fleming, Mark D.; Agarwal, Suneet
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Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells
err2023-06-29
err17
errOAAI
errLareau, Caleb A.; Dubois, Sonia M.; Buquicchio, Frank A.; Hsieh, Yu-Hsin; Garg, Kopal; Kautz, Pauline; Nitsch, Lena; Praktiknjo, Samantha D.; Maschmeyer, Patrick; Verboon, Jeffrey M.; Gutierrez, Jacob C.; Yin, Yajie; Fiskin, Evgenij; Luo, Wendy; Mimitou, Eleni P.; Muus, Christoph; Malhotra, Rhea; Parikh, Sumit; Fleming, Mark D.; Oevermann, Lena; Schulte, Johannes; Eckert, Cornelia; Kundaje, Anshul; Smibert, Peter; Vardhana, Santosha A.; Satpathy, Ansuman T.; Regev, Aviv; Sankaran, Vijay G.; Agarwal, Suneet; Ludwig, Leif S.
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Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria
err2023-05-01
err8
errOAAI
errDickey, Amy K.; Rebeiz, Lina; Raef, Haya; Leaf, Rebecca K.; Elmariah, Sarina; Naik, Hetanshi; Anderson, Karl; Conley, Jared; Iyasere, Christiana; Zhao, Sophia; Birkenfeld, Judith S.; Arroyo-Gallego, Teresa; Wheeden, Kristen; Ducamp, Sarah; Christiani, David C.; Fleming, Mark D.; Kochevar, Irene
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Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1
err2023-03-27
err103
errOAAI
errLee, Lance; Campagna, Dean R.; Pinkus, Jack L.; Mulhern, Howard; Wyatt, Todd A.; Sisson, Joseph H.; Pavlik, Jacqueline A.; Pinkus, Geraldine S.; Fleming, Mark D.
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Emi1 Maintains Genomic Integrity during Zebrafish Embryogenesis and Cooperates with p53 in Tumor SuppressionEmi1在斑马鱼胚胎发生过程中维持基因组完整性,并与p53协同抑制肿瘤
err2023-03-21
err32
errOAAI
errRhodes, Jennifer; Amsterdam, Adam; Sanda, Takaomi; Moreau, Lisa A.; McKenna, Keith; Heinrichs, Stefan; Ganem, Neil J.; Ho, Karen W.; Neuberg, Donna S.; Johnston, Adam; Ahn, Yebin; Kutok, Jeffery L.; Hromas, Robert; Wray, Justin; Lee, Charles; Murphy, Carly; Radtke, Ina; Downing, James R.; Fleming, Mark D.; MacConaill, Laura E.; Amatruda, James F.; Gutierrez, Alejandro; Galinsky, Ilene; Stone, Richard M.; Ross, Eric A.; Pellman, David S.; Kanki, John P.; Look, A. Thomas
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DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signalingDPP9缺乏症: 一种可以通过降低NLRP1/IL-1信号来挽救的炎症性疾病
err2022-09-30
err20
errOAAI
errHarapas, Cassandra R.; Robinson, Kim S.; Lay, Kenneth; Wong, Jasmine; Traspas, Ricardo Moreno; Nabavizadeh, Nasrin; Rass-Rothschild, Annick; Boisson, Bertrand; Drutman, Scott B.; Laohamonthonkul, Pawat; Bonner, Devon; Xiong, Jingwei Rachel; Gorrell, Mark D.; Davidson, Sophia; Yu, Chien-Hsiung; Fleming, Mark D.; Gudera, Jonas; Stein, Jerry; Ben-Harosh, Miriam; Groopman, Emily; Shimamura, Akiko; Tamary, Hannah; Kayserili, Hulya; Hatipoglu, Nevin; Casanova, Jean-Laurent; Bernstein, Jonathan A.; Zhong, Franklin L.; Masters, Seth L.; Reversade, Bruno
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