U.S. Department of Health and Human Services

Genetics of Development and Disease Branch

Richard L. Proia, Ph.D., Chief


A selection of recent and significant publications can be viewed below.

Stroncek DF, Tran M, Frodigh SE, David-Ocampo V, Ren J, Larochelle A, Sheikh V, Sereti I, Miller JL, Longin K, Sabatino M. Preliminary evaluation of a highly automated instrument for the selection of CD34+ cells from mobilized peripheral blood stem cell concentrates. Transfusion. 2015 Oct 27; 56 (56; 2015 Oct 27; 2):511-7. [Full Text/Abstract]
Krivega I, Byrnes C, de Vasconcellos JF, Lee YT, Kaushal M, Dean A, Miller JL. Inhibition of G9a methyltransferase stimulates fetal hemoglobin production by facilitating LCR/γ-globin looping. Blood. 2015 May 15; 126 (126; 2015 May 15; 5):665-72. [Full Text/Abstract]
Rabel A, Leitman SF, Miller JL. Ask about ice, then consider iron. J Am Assoc Nurse Pract. 2015 May 5; 28 (28; 2; 2015 May 5):116-20. [Full Text/Abstract]
Meier ER, Byrnes C, Weissman M, Lee YT, Miller JL. Absolute Reticulocyte Count Acts as a Surrogate for Fetal Hemoglobin in Infants and Children with Sickle Cell Anemia. PLoS One. 2015 Sep 14; 10 (2015 Sep 14; 10; 9):e0136672. [Full Text/Abstract]
Glushakova S, Balaban A, McQueen PG, Coutinho R, Miller JL, Nossal R, Fairhurst RM, Zimmerberg J. Hemoglobinopathic erythrocytes affect the intraerythrocytic multiplication of Plasmodium falciparum in vitro. J Infect Dis. 2014 May 5; 210 (210; 7; 2014 May 5):1100-9. [Full Text/Abstract]
Porter JB, Walter PB, Neumayr LD, Evans P, Bansal S, Garbowski M, Weyhmiller MG, Harmatz PR, Wood JC, Miller JL, Byrnes C, Weiss G, Seifert M, Grosse R, Grabowski D, Schmidt A, Fischer R, Nielsen P, Niemeyer C, Vichinsky E. Mechanisms of plasma non-transferrin bound iron generation: insights from comparing transfused diamond blackfan anaemia with sickle cell and thalassaemia patients. Br J Haematol. 2014 Sep 11; 167 (2014 Sep 11; 5; 167):692-6. [Full Text/Abstract]
Meier ER, Wright EC, Miller JL. Reticulocytosis and anemia are associated with an increased risk of death and stroke in the newborn cohort of the Cooperative Study of Sickle Cell Disease. Am J Hematol. 2014 Sep; 89 (9; 2014 Sep; 89):904-6. [Full Text/Abstract]
Du C, Ma X, Meruvu S, Hugendubler L, Mueller E. The adipogenic transcriptional cofactor ZNF638 interacts with splicing regulators and influences alternative splicing. J Lipid Res. 2014 Jul 14; 55 (2014 Jul 14; 55; 9):1886-96. [Full Text/Abstract]
Brubaker L, Brincat C, Mueller E. Are We Satisfied? Perspective on Five-year Outcomes of Midurethral Slings. Eur Urol. 2014 Jun; 65 (6; 65; 2014 Jun):1115-6. [Full Text/Abstract]
Mueller EM, Panitz C, Hermann C, Pizzagalli DA. Prefrontal Oscillations during Recall of Conditioned and Extinguished Fear in Humans. J Neurosci. 34 (21; 34):7059-66. [Full Text/Abstract]
Abernethy MG, Davis C, Lowenstein L, Mueller ER, Brubaker L, Kenton K. Urethral sensation following reconstructive pelvic surgery. Int Urogynecol J. [Full Text/Abstract]
Novgorodov SA, Riley CL, Yu J, Borg KT, Hannun YA, Proia RL, Kindy MS, Gudz TI. Essential roles of neutral ceramidase and sphingosine in mitochondrial dysfunction due to traumatic brain injury. J Biol Chem. 2014 May 9; 289 (2014 May 9; 19; 289):13142-54. [Full Text/Abstract]
Mueller ER, Litman H, Rickey LR, Sirls L, Norton P, Wilson T, Moalli P, Albo M, Zimmern P. Comparison of flowrates and voided volumes during non-instrumented uroflowmetry and pressure-flow studies in women with stress incontinence. Neurourol Urodyn. [Full Text/Abstract]
Zyczynski HM, Sirls LT, Greer WJ, Rahn DD, Casiano E, Norton P, Kim HY, Brubaker L, Urinary Incontinence Treatment Network. Findings of universal cystoscopy at incontinence surgery and their sequelae. Am J Obstet Gynecol. 2014 May; 210 (210; 2014 May; 5):480.e1-8. [Full Text/Abstract]
Gadzinski JA, Sheran J, Garbe G, Fitzgerald G, Mueller E, Wagner S. The postendometrial ablation endometrium: reassessment with biopsy and ultrasonography. Obstet Gynecol. 2014 May; 123 Suppl 1 (123 Suppl 1; 2014 May):124S. [Full Text/Abstract]
Giannouli CC, Chandris P, Proia RL. Visualizing S1P-directed cellular egress by intravital imaging. Biochim Biophys Acta. 2014 May; 1841 (1841; 2014 May; 5):738-744. [Full Text/Abstract]
Kono M, Tucker AE, Tran J, Bergner JB, Turner EM, Proia RL. Sphingosine-1-phosphate receptor 1 reporter mice reveal receptor activation sites in vivo. J Clin Invest. 2014 May 1; 124 (124; 2014 May 1; 5):2076-86. [Full Text/Abstract]
Mueller EM, Burgdorf C, Chavanon ML, Schweiger D, Hennig J, Wacker J, Stemmler G. The COMT Val158Met polymorphism regulates the effect of a dopamine antagonist on the feedback-related negativity. Psychophysiology. [Full Text/Abstract]
Htun P, Kan T, Mueller E, Pohle C, Schindler R, Geisler T, Gawaz M, Bocksch W, Fateh-Moghadam S. Haemodialysis impairs clopidogrel but not aspirin responsiveness in patients with end-stage renal disease. Results of a pilot study. Thromb Haemost. 2014 Apr 1; 111 (2014 Apr 1; 111; 4):662-9. [Full Text/Abstract]
Vajda J, Mueller E, Bahret E. Dual salt mixtures in mixed mode chromatography with an immobilized tryptophan ligand influence the removal of aggregated monoclonal antibodies. Biotechnol J. 2014 Apr; 9 (4; 9; 2014 Apr):555-65. [Full Text/Abstract]
Barber MD, Brubaker L, Burgio KL, Richter HE, Nygaard I, Weidner AC, Menefee SA, Lukacz ES, Norton P, Schaffer J, Nguyen JN, Borello-France D, Goode PS, Jakus-Waldman S, Spino C, Warren LK, Gantz MG, Meikle SF, Eunice Kennedy Shriver National Institute of Child Health and Human Development Pelvic Floor Disorders Network. Comparison of 2 transvaginal surgical approaches and perioperative behavioral therapy for apical vaginal prolapse: the OPTIMAL randomized trial. JAMA. 2014 Mar 12; 311 (10; 2014 Mar 12; 311):1023-34. [Full Text/Abstract]
Stalder AF, Schmidt M, Greiser A, Speier P, Guehring J, Friedrich MG, Mueller E. Robust cardiac BOLD MRI using an fMRI-like approach with repeated stress paradigms. Magn Reson Med. 2014 Mar 10; 73 (2; 73; 2014 Mar 10):577-85. [Full Text/Abstract]
Mueller EL, Park ER, Davis MM. What the affordable care act means for survivors of pediatric cancer. J Clin Oncol. 32 (32; 7):615-7. [Full Text/Abstract]
Hilt EE, McKinley K, Pearce MM, Rosenfeld AB, Zilliox MJ, Mueller ER, Brubaker L, Gai X, Wolfe AJ, Schreckenberger PC. Urine is not sterile: use of enhanced urine culture techniques to detect resident bacterial flora in the adult female bladder. J Clin Microbiol. 52 (3; 52):871-6. [Full Text/Abstract]
Li CR, Mueller EE, Bradley LM. Islet antigen-specific Th17 cells can induce TNF-α-dependent autoimmune diabetes. J Immunol. 192 (4; 192):1425-32. [Full Text/Abstract]
Zimmern P, Litman HJ, Nager CW, Lemack GE, Richter HE, Sirls L, Kraus SR, Sutkin G, Mueller ER. Effect of aging on storage and voiding function in women with stress-predominant urinary incontinence. J Urol. [Full Text/Abstract]
Droege ME, Mueller EW, Besl KM, Lemmink JA, Kramer EA, Athota KP, Droege CA, Ernst NE, Keegan SP, Lutomski DM, Hanseman DJ, Robinson BR. Effect of a dalteparin prophylaxis protocol using anti-factor Xa concentrations on venous thromboembolism in high-risk trauma patients. J Trauma Acute Care Surg. 76 (76; 2):450-6. [Full Text/Abstract]
Anger JT, Mueller ER, Tarnay C, Smith B, Stroupe K, Rosenman A, Brubaker L, Bresee C, Kenton K. Robotic compared with laparoscopic sacrocolpopexy: a randomized controlled trial. Obstet Gynecol. 123 (123; 1):5-12. [Full Text/Abstract]
Mueller EM, Panitz C, Nestoriuc Y, Stemmler G, Wacker J. Panic disorder and serotonin reuptake inhibitors predict coupling of cortical and cardiac activity. Neuropsychopharmacology. 39 (2; 39):507-14. [Full Text/Abstract]
Chudyk W, Sotolongo C, Mueller E. A fiber-optic redox sensor for the iron(III)-iron(II) transition. Environ Monit Assess. 2014 Jan; 186 (186; 2014 Jan; 1):415-20. [Full Text/Abstract]
de Vasconcellos JF, Fasano RM, Lee YT, Kaushal M, Byrnes C, Meier ER, Anderson M, Rabel A, Braylan R, Stroncek DF, Miller JL. LIN28A expression reduces sickling of cultured human erythrocytes. PLoS One. 2014 Sep 4; 9 (2014 Sep 4; 9):e106924. [Full Text/Abstract]
Lee YT, de Vasconcellos JF, Yuan J, Byrnes C, Noh SJ, Meier ER, Kim KS, Rabel A, Kaushal M, Muljo SA, Miller JL. LIN28B-mediated expression of fetal hemoglobin and production of fetal-like erythrocytes from adult human erythroblasts ex vivo. Blood. 2013 Aug 8; 122 (122; 6; 2013 Aug 8):1034-41. [Full Text/Abstract]
Lee YT, Kim KS, Byrnes C, de Vasconcellos JF, Noh SJ, Rabel A, Meier ER, Miller JL. A Synthetic Model of Human Beta-Thalassemia Erythropoiesis Using CD34+ Cells from Healthy Adult Donors. PLoS One. 2013; 8 (8; 7; 2013):e68307. [Full Text/Abstract]
Miller JL. Iron deficiency anemia: a common and curable disease. Cold Spring Harb Perspect Med. 2013 Jul 1; 3 (7; 3; 2013 Jul 1). [Full Text/Abstract]
Byrnes C, Lee YT, Meier ER, Rabel A, Sacks DB, Miller JL. Iron dose-dependent differentiation and enucleation of human erythroblasts in serum-free medium. J Tissue Eng Regen Med. 2013 Apr 18; 10 (2; 10; 2013 Apr 18):E84-9. [Full Text/Abstract]
Meier ER, Byrnes C, Lee YT, Wright EC, Schechter AN, Luban NL, Miller JL. Increased Reticulocytosis during Infancy Is Associated with Increased Hospitalizations in Sickle Cell Anemia Patients during the First Three Years of Life. PLoS One. 2013 Aug 7; 8 (8; 2013 Aug 7):e70794. [Full Text/Abstract]
Olivera A, Allende ML, Proia RL. Shaping the landscape: metabolic regulation of S1P gradients. Biochim Biophys Acta. 2013 Jan; 1831 (1831; 1; 2013 Jan):193-202. [Full Text/Abstract]
Meier ER, Miller JL. Sickle cell disease in children. Drugs. 2012 May 7; 72 (72; 7; 2012 May 7):895-906. [Full Text/Abstract]
Byrnes C, Terry Lee Y, Donahue RE, Miller JL. Identification of a cross-reacting, monoclonal anti-human CD233 antibody for identification and sorting of rhesus macaque erythrocytes. Cytometry A. 2012 Feb; 81 (81; 2012 Feb; 2):165-8. [Full Text/Abstract]
Kiefer CM, Lee J, Hou C, Dale RK, Lee YT, Meier ER, Miller JL, Dean A. Distinct Ldb1/NLI complexes orchestrate γ-globin repression and reactivation through ETO2 in human adult erythroid cells. Blood. 2011 Dec 1; 118 (118; 23; 2011 Dec 1):6200-8. [Full Text/Abstract]
Abraham B, Hicks W, Jia Y, Baek JH, Miller JL, Alayash AI. Isolated Hb Providence β82Asn and β82Asp fractions are more stable than native HbA(0) under oxidative stress conditions. Biochemistry. 2011 Nov 15; 50 (50; 45; 2011 Nov 15):9752-66. [Full Text/Abstract]
Teng R, Gavrilova O, Suzuki N, Chanturiya T, Schimel D, Hugendubler L, Mammen S, Yver DR, Cushman SW, Mueller E, Yamamoto M, Hsu LL, Noguchi CT. Disrupted erythropoietin signalling promotes obesity and alters hypothalamus proopiomelanocortin production. Nat Commun. 2011 Nov 1; 2 (2; 2011 Nov 1):520. [Full Text/Abstract]
Meruvu S, Hugendubler L, Mueller E. Regulation of adipocyte differentiation by the zinc finger protein ZNF638. J Biol Chem. 2011 Jul 29; 286 (30; 2011 Jul 29; 286):26516-23. [Full Text/Abstract]
Allende ML, Bektas M, Lee BG, Bonifacino E, Kang J, Tuymetova G, Chen W, Saba JD, Proia RL. Sphingosine-1-phosphate lyase deficiency produces a pro-inflammatory response while impairing neutrophil trafficking. J Biol Chem. 2011 Mar 4; 286 (9; 286; 2011 Mar 4):7348-58. [Full Text/Abstract]
Tanno T, Rabel A, Alleyne M, Lee YT, Dahut WL, Gulley JL, Miller JL. Hepcidin, anaemia, and prostate cancer. BJU Int. 2011 Feb; 107 (107; 2011 Feb; 4):678-9. [Full Text/Abstract]
Meier ER, Byrnes C, Weissman M, Noel P, Luban NL, Miller JL. Expression patterns of fetal hemoglobin in sickle cell erythrocytes are both patient- and treatment-specific during childhood. Pediatr Blood Cancer. 2011 Jan; 56 (56; 2011 Jan; 1):103-9. [Full Text/Abstract]
Bagattin A, Hugendubler L, Mueller E. Transcriptional coactivator PGC-1alpha promotes peroxisomal remodeling and biogenesis. Proc Natl Acad Sci U S A. 2010 Nov 23; 107 (107; 2010 Nov 23; 47):20376-81. [Full Text/Abstract]
Noh SJ, Lee YT, Byrnes C, Miller JL. A transcriptome-based examination of blood group expression. Transfus Clin Biol. 2010 Sep; 17 (17; 2010 Sep; 3):120-5. [Full Text/Abstract]
Tanno T, Rabel A, Lee YT, Yau YY, Leitman SF, Miller JL. Expression of growth differentiation factor 15 is not elevated in individuals with iron deficiency secondary to volunteer blood donation. Transfusion. 2010 Jul; 50 (7; 50; 2010 Jul):1532-5. [Full Text/Abstract]
Allende ML, Tuymetova G, Lee BG, Bonifacino E, Wu YP, Proia RL. S1P1 receptor directs the release of immature B cells from bone marrow into blood. J Exp Med. 2010 May 10; 207 (207; 5; 2010 May 10):1113-24. [Full Text/Abstract]