MarkDFlemingMDDPhil

PubMed

• Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
  Gabrielle Lemire, Alba Sanchis-Juan, Kathryn Russell, Samantha Baxter, Katherine R Chao, Moriel Singer-Berk, Emily Groopman, Isaac Wong, Eleina England, Julia Goodrich...> ;American Journal of Human Genetics. 2024 Mar 27
• 1 citations
  Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-...
  Pankaj Sharma, Prateek Bhatia, Minu Singh, Manu Jamwal, Swetha Pallavelangini, Reena Das, Pankaj Malhotra, Savita V Attri, Sarah Ducamp, Mark D Fleming, Amita Trehan> ;The Journal of Molecular Diagnostics. 2024 Feb 13
• Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesis.
  Adam G Maynard, Nancy K Pohl, Annabel P Mueller, Boryana Petrova, Alan Y L Wong, Peng Wang, Andrew J Culhane, Jeannette R Brook, Leah M Hirsch, Ngoc Hoang, Orville Kir...> ;Science Advances. 2024 Feb 2
• Successful cord blood transplantation for del7q myelodysplastic syndrome in Pearson marrow pancreas syndrome.
  Zacharia H Belgacem, Sonia M Dubois, Elad Jacoby, Paul L Martin, Sumit B Parikh, Mark D Fleming, Suneet Agarwal> ;American Journal of Hematology. 2023 Dec 1
• 6 citations
  Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells.
  Caleb A Lareau, Sonia M Dubois, Frank A Buquicchio, Yu-Hsin Hsieh, Kopal Garg, Pauline Kautz, Lena Nitsch, Samantha D Praktiknjo, Patrick Maschmeyer, Jeffrey M Verboon...> ;Nature Genetics. 2023 Jul 1
• 3 citations
  Prospective observational pilot study of quantitative light dosimetry in erythropoietic protoporphyria.
  Amy K Dickey, Lina Rebeiz, Haya Raef, Rebecca K Leaf, Sarina Elmariah, Hetanshi Naik, Karl Anderson, Jared Conley, Christiana Iyasere, Sophia Zhao, Judith S Birkenfeld...> ;Journal of the American Academy of Dermatology. 2023 May 1
• 3 citations
  Loss of the placental iron exporter ferroportin 1 causes embryonic demise in late-gestation mouse pregnancy.
  Chang Cao, Mark D Fleming> ;Development. 2022 Dec 1
• 11 citations
  DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling.
  Cassandra R Harapas, Kim S Robinson, Kenneth Lay, Jasmine Wong, Ricardo Moreno Traspas, Nasrin Nabavizadeh, Annick Rass-Rothschild, Bertrand Boisson, Scott B Drutman, ...> ;Science Immunology. 2022 Sep 16
• 16 citations
  Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders.
  Michael A Levy, Raissa Relator, Haley McConkey, Erinija Pranckeviciene, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Ge...> ;Human Mutation. 2022 Nov 1
• 6 citations
  Hereditary myopathies associated with hematological abnormalities.
  Grayson Beecher, Mark D Fleming, Teerin Liewluck> ;Muscle & Nerve. 2022 Apr 1
• 53 citations
  Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.
  Michael A Levy, Haley McConkey, Jennifer Kerkhof, Mouna Barat-Houari, Sara Bargiacchi, Elisa Biamino, María Palomares Bralo, Gerarda Cappuccio, Andrea Ciolfi, Angus Cl...> ;HGG Advances. 2022 Jan 13
• 1 citations
  A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
  Jamie Oakley, Dean R. Campagna, Liang Sun, Shira Rockowitz, Piotr Sliz, Jeanne Boudreaux, Gary Woods, Mark D. Fleming> ;Pediatric Blood & Cancer. 2022 Jan 1
• Prevalence and Predictors of Iron Deficiency in Adolescent and Young Adult Outpatients: Implications for Screening:
  Rose Eiduson, Matthew M. Heeney, Pei-Chi Kao, Wendy B. London, Mark D. Fleming, Lydia A. Shrier> ;Clinical Pediatrics. 2021 Nov 19
• 19 citations
  Hematologic Complications with Age in Shwachman-Diamond Syndrome.
  Elissa Furutani, Shanshan Liu, Ashley Galvin, Sarah K. Steltz, Maggie Malsch, Sara Loveless, Leann Mount, Jordan Henry Larson, Kelan Queenan, Alison A. Bertuch, Mark D...> ;Blood Advances. 2021 Nov 10
• 1 citations
  Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6
  Raffaele Renella, Katelyn Gagne, Ellen M. Beauchamp, Jonathan Fogel, Aleksej Perlov, Mireia Sola, Thorsten M. Schlaeger, Inga Hofmann, Akiko Shimamura, Benjamin L. Ebe...> ;American Journal of Hematology. 2021 Oct 22
• 11 citations
  Association of Unbalanced Translocation der(1;7) with Germline GATA2 Mutations.
  Emilia J Kozyra, Gudrun Göhring, Dennis D. Hickstein, Katherine R. Calvo, Courtney D. DiNardo, Michael Dworzak, Valerie de Haas, Jan Stary, Henrik Hasle, Akiko Shimamu...> ;Blood. 2021 Sep 1
• 122 citations
  Talazoparib monotherapy in metastatic castration-resistant prostate cancer with DNA repair alterations (TALAPRO-1): an open-label, phase 2 trial
  Johann S. de Bono, Niven Mehra, Giorgio V. Scagliotti, Elena Castro, Tanya B. Dorff, A. Stirling, Arnulf Stenzl, Mark D. Fleming, Celestia S. Higano, Fred Saad, Consue...> ;The Lancet. Oncology. 2021 Sep 1
• 11 citations
  Maternal Iron Deficiency Modulates Placental Transcriptome and Proteome in Mid-Gestation of Mouse Pregnancy.
  Chang Cao, Miguel A. Prado, Liang Sun, Shira Rockowitz, Piotr Sliz, Joao A. Paulo, Daniel Finley, Mark D. Fleming> ;The Journal of Nutrition. 2021 May 11
• 86 citations
  Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
  Alyssa L. Kennedy, Kasiani C. Myers, James Bowman, Christopher J. Gibson, Nicholas D. Camarda, Elissa Furutani, Gwen M. Muscato, Robert H. Klein, Kaitlyn Ballotti, Sha...> ;Nature Communications. 2021 Feb 26
• 47 citations
  Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and Infection
  Joe N. Frost, Tiong Kit Tan, Munawar Abbas, S K Wideman, M Bonadonna, Nicole U. Stoffel, Katherine Wray, B Kronsteiner, G Smits, Dean R. Campagna, Tiago L. Duarte, Jos...> ;Med. 2021 Feb 12
• 5 citations
  Global loss of Tfr2 with concomitant induced iron deficiency greatly ameliorates the phenotype of a murine thalassemia intermedia model.
  Paul J. Schmidt, Kevin Fitzgerald, James Butler, Mark D. Fleming> ;American Journal of Hematology. 2021 Feb 1
• 4 citations
  ITK deficiency presenting as autoimmune lymphoproliferative syndrome.
  Jacqueline G. Wallace, Mohammed F. Alosaimi, Claudia Djambas Khayat, Faris Jaber, Abduarahman Almutairi, Sarah Beaussant-Cohen, Geraldine S. Pinkus, Mark D. Fleming, C...> ;The Journal of Allergy and Clinical Immunology. 2021 Feb 1
• 11 citations
  Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.
  Amy K. Dickey, Corbin Quick, Sarah Ducamp, Zhaozhong Zhu, Yen-Chen Anne Feng, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Xihong Lin, John Phillips, Lina Rebeiz,...> ;Genetics in Medicine. 2021 Jan 1
• 1 citations
  Social Literacy: Nurses' Contribution Toward the Co-Production of Self-Management
  Leslie Dubbin, Nancy J. Burke, Mark D. Fleming, Ariana Thompson-Lastad, Tessa M. Napoles, Irene H. Yen, Janet K. Shim> ;Global Qualitative Nursing Research. 2021 Feb 11
• 23 citations
  A randomized phase 2 trial of pembrolizumab versus pembrolizumab and acalabrutinib in patients with platinum-resistant metastatic urothelial cancer
  Tian Zhang, Michael R. Harrison, Peter H. O'Donnell, Ajjai Alva, Noah M. Hahn, Leonard Joseph Appleman, Jeremy Cetnar, John M. Burke, Mark D. Fleming, Matthew I. Milow...> ;Cancer. 2020 Oct 15
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Journal Articles

• The Phenotypic Spectrum of Germline YARS2 Variants: From Isolated Sideroblastic Anemia to Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia 2  
  Matthew M Heeney, Gregory A Hale, David P Steensma, Mark D Fleming, Colin A Sieff, Lee M Hilliard, Sylvia S Bottomley, Janet L Kwiatkowski, Haematologica
• Congenital Macrothrombocytopenia with Focal Myelofibrosis Due to Mutations in Human G6b-B Is Rescued in Humanized Mice  
  Mark Fleming, MD, Blood

Lectures

• Lack of Gdf11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand Rap-536 
  2018 ASH Annual Meeting - San Diego, CA - 12/1/2018