T. Gelbart

J. Friedewald, M. Abecassis, M. Abecassis, 2014, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

effective approach Screening for hemochromatosis by measuring ferritin levels: a more

V. Felitti, E. Beutler, J. Waalen, 2013 .

Screening for hemochromatosis by measuring ferritin levels: a more effective approach.

V. Felitti, E. Beutler, J. Waalen, 2007, Blood.

Gene Expression in Biopsies of Acute Rejection and Interstitial Fibrosis/Tubular Atrophy Reveals Highly Shared Mechanisms That Correlate With Worse Long‐Term Outcomes

A. Su, J. Friedewald, M. Abecassis, 2016, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Relationship of Body Iron Stores to Levels of Serum Ferritin, Serum Iron, Unsaturated Iron Binding Capacity and Transferrin Saturation in Patients with Iron Storage Disease

V. Felitti, E. Beutler, T. Gelbart, 2002, Acta Haematologica.

Prevalence of coronary heart disease associated with HFE mutations in adults attending a health appraisal center.

V. Felitti, E. Beutler, J. Waalen, 2002, The American journal of medicine.

Large-scale screening for HFE mutations: methodology and cost.

E. Beutler, T. Gelbart, 2000, Genetic testing.

Synergy between TLR2 and TLR4: a safety mechanism.

E. Beutler, C. West, T. Gelbart, 2001, Blood cells, molecules & diseases.

Glucocerebrosidase (Gaucher disease)

E. Beutler, T. Gelbart, 1996, Human mutation.

Hematologically important mutations: Gaucher disease.

E. Beutler, T. Gelbart, C. Scott, 2005, Blood cells, molecules & diseases.

Glucocerebrosidase Mutations in Gaucher Disease

E. Beutler, T. Gelbart, A. Demina, 1994, Molecular medicine.

Haptoglobin polymorphism and iron homeostasis.

E. Beutler, Pauline L. Lee, T. Gelbart, 2002, Clinical chemistry.

Mutations in Jewish patients with Gaucher disease.

E. Beutler, A. Zimran, W. Kuhl, 1992, Blood.

Polymorphisms in the human glucocerebrosidase gene.

E. Beutler, C. West, T. Gelbart, 1992, Genomics.

Orthogonal Comparison of Molecular Signatures of Kidney Transplants With Subclinical and Clinical Acute Rejection: Equivalent Performance Is Agnostic to Both Technology and Platform

J. Friedewald, M. Abecassis, J. Charette, 2017, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Gaucher disease mutations in non‐Jewish patients

E. Beutler, T. Gelbart, 1993, British journal of haematology.

6-Phosphogluconolactonase deficiency, a hereditary erythrocyte enzyme deficiency: possible interaction with glucose-6-phosphate dehydrogenase deficiency.

E. Beutler, W. Kuhl, T. Gelbart, 1985, Proceedings of the National Academy of Sciences of the United States of America.

HLA-H mutations in the Ashkenazi Jewish population.

E. Beutler, T. Gelbart, 1997, Blood cells, molecules & diseases.

Genetics of iron storage and hemochromatosis.

V. Felitti, E. Beutler, T. Gelbart, 2001, Drug metabolism and disposition: the biological fate of chemicals.

Analysis of HFE-codon 63/282 (H63D/C282Y) gene variants in mexican mestizos. Blood donors and patients with hereditary hemochromatosis.

J. Juárez-Morales, T. Gelbart, G. Ruiz-Argüelles, 2000, Archives of medical research.

Suppression of the hepcidin‐encoding gene Hamp permits iron overload in mice lacking both hemojuvelin and matriptase‐2/TMPRSS6

B. Beutler, E. Beutler, J. Truksa, 2009, British journal of haematology.

Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome.

J. Barton, E. Beutler, T. Gelbart, 1998, Blood.

Commentary on HFE S65C variant is not associated with increased transferrin saturation in voluntary blood donors by Naveen Arya, Subrata Chakrabrati, Robert A. Hegele, Paul C. Adams.

V. Felitti, E. Beutler, T. Gelbart, 1999, Blood cells, molecules & diseases.

SLC40A1 c.1402G→A Results in Aberrant Splicing, Ferroportin Truncation after Glycine 330, and an Autosomal Dominant Hemochromatosis Phenotype

J. Barton, Pauline L. Lee, C. West, 2007, Acta Haematologica.

Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans.

C. Vulpe, V. Felitti, J. Barton, 2003, Blood cells, molecules & diseases.

A previously undescribed nonsense mutation of the HFE gene

E. Beutler, C. West, T. Gelbart, 2002, Clinical genetics.

A strategy for cloning the hereditary hemochromatosis gene.

E. Beutler, W. Kuhl, C. West, 1995, Blood cells, molecules & diseases.

Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene.

V. Felitti, E. Beutler, J. Waalen, 2002, Mayo Clinic proceedings.

The Mask Mutation Identifies TMPRSS6 as an Essential Suppressor of Hepcidin Gene Expression, Required for Normal Uptake of Dietary Iron.

B. Beutler, Xin Du, E. Beutler, 2007 .

Tumor necrosis factor alpha promoter polymorphisms and liver abnormalities of homozygotes for the 845G>A(C282Y) hereditary hemochromatosis mutation.

E. Beutler, T. Gelbart, 2002, Blood.

A common intron 3 mutation (IVS3 -48c-->g) leads to misdiagnosis of the c.845G-->A (C282Y) HFE gene mutation.

E. Beutler, T. Gelbart, 2000, Blood cells, molecules & diseases.

A Novel Intrachromosomal Rearrangement in the β-Globin Gene Fd in An African-American Family

E. Beutler, S. Forman, S. Rahbar, 1995 .

The Serine Protease TMPRSS6 Is Required to Sense Iron Deficiency

B. Beutler, E. Moresco, Xin Du, 2008, Science.

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

E. Beutler, C. West, T. Gelbart, 1990, Clinica chimica acta; international journal of clinical chemistry.

Helicobacter pylori infection and HFE hemochromatosis.

E. Beutler, T. Gelbart, 2006, Blood cells, molecules & diseases.

Chronic inflammation does not appear to modify the homozygous hereditary hemochromatosis phenotype.

E. Beutler, J. Waalen, T. Gelbart, 2005, Blood cells, molecules & diseases.

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

E. Beutler, G. Grabowski, T. Gelbart, 1991, American journal of human genetics.

Clinical haemochromatosis in HFE mutation carriers

J. Koziol, V. Felitti, E. Beutler, 2002, The Lancet.

A new exon 9 glucose-6-phosphate dehydrogenase mutation (G6PD "Rehovot") in a Jewish Ethiopian family with variable phenotypes.

E. Beutler, D. Sthoeger, T. Gelbart, 2000, Blood cells, molecules & diseases.

Response: Screening for treatable disease is better than just screening for hemochromatosis

V. Felitti, E. Beutler, J. Waalen, 2008 .

Gaucher Disease: Clinical, Laboratory, Radiologic, and Genetic Features of 53 Patients

A. Saven, E. Beutler, T. Gelbart, 1992 .

Chronic non-spherocytic hemolytic anemia associated with severe neurological disease due to γ-glutamylcysteine synthetase deficiency in a patient of Moroccan origin

S. Kalko, E. Beutler, T. Gelbart, 2007, Haematologica.

The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency.

E. Beutler, T. Gelbart, T. Kondo, 1999, Blood.

Haematological effects of the C282Y HFE mutation in homozygous and heterozygous states among subjects of northern and southern European ancestry

V. Felitti, E. Beutler, J. Waalen, 2003, British journal of haematology.

Gamma-glutamylcysteine synthetase deficiency and hemolytic anemia.

L. Forman, E. Beutler, T. Gelbart, 1990, Blood.

Improved assay of the enzymes of glutathione synthesis: gamma-glutamylcysteine synthetase and glutathione synthetase.

E. Beutler, T. Gelbart, 1986, Clinica chimica acta; international journal of clinical chemistry.

Blood cell phosphogluconolactonase: assay and properties

E. Beutler, W. Kuhl, T. Gelbart, 1986, British journal of haematology.

Erythrocyte glutathione synthetase deficiency leads not only to glutathione but also to glutathione-S-transferase deficiency.

C. Pegelow, E. Beutler, T. Gelbart, 1986, The Journal of clinical investigation.

Globin-methionine complexes formed during labelling studies.

E. Beutler, T. Gelbart, 2008, Clinical and laboratory haematology.

Plasma glutathione in health and in patients with malignant disease.

E. Beutler, T. Gelbart, 1985, The Journal of laboratory and clinical medicine.

Understanding and predicting suicidality using a combined genomic and clinical risk assessment approach

N. Schork, G. Sandusky, A. Shekhar, 2015, Molecular Psychiatry.

Hematologically important mutations

E. Beutler, T. Gelbart, C. R. Scott, 2005 .

Hereditary non‐spherocytic haemolytic anaemia due to red blood cell glutathione synthetase deficiency in four unrelated patients from Spain: clinical and molecular studies

A. Ribes, E. Beutler, T. Gelbart, 2001, British journal of haematology.

The clinical course of treated and untreated Gaucher disease. A study of 45 patients.

D. Balicki, E. Beutler, T. Gelbart, 1995, Blood cells, molecules & diseases.

A less costly regimen of alglucerase to treat Gaucher's disease.

J. Koziol, E. Beutler, T. Gelbart, 1992, The New England journal of medicine.

The human glucocerebrosidase gene and pseudogene: structure and evolution.

O. Reiner, M. Horowitz, S. Wilder, 1989, Genomics.

Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

E. Beutler, T. Gelbart, 1994, Human mutation.

Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state.

E. Beutler, W. Kuhl, C. West, 1991, Proceedings of the National Academy of Sciences of the United States of America.

Molecular characterization of a third case of human atransferrinemia.

E. Beutler, T. Gelbart, A. Knisely, 2004, Blood.

Racial variability in the UDP-glucuronosyltransferase 1 (UGT1A1) promoter: a balanced polymorphism for regulation of bilirubin metabolism?

E. Beutler, T. Gelbart, A. Demina, 1998, Proceedings of the National Academy of Sciences of the United States of America.

Severe jaundice in a patient with a previously undescribed glucose-6-phosphate dehydrogenase (G6PD) mutation and Gilbert syndrome.

E. Beutler, T. Gelbart, W. Miller, 2002, Blood cells, molecules & diseases.

Identification of the binding domain for NADP+ of human glucose-6-phosphate dehydrogenase by sequence analysis of mutants.

L. Forman, E. Beutler, W. Kuhl, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Three genes encoding zinc finger proteins on human chromosome 6p21.3: members of a new subclass of the Kruppel gene family containing the conserved SCAN box domain.

E. Beutler, C. West, T. Gelbart, 1997, Genomics.

Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA

J. Koziol, V. Felitti, E. Beutler, 2002, The Lancet.

A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin.

V. Felitti, E. Beutler, Pauline L. Lee, 2001, Blood cells, molecules & diseases.

Chronic granulomatous disease and glutathione peroxidase deficiency, revisited.

P. Newburger, S. Malawista, M. Dinauer, 1994, Blood.

Early non-neutralizing, afucosylated antibody responses are associated with COVID-19 severity

Mark M. Davis, Shenmin Zhang, B. Pulendran, 2022, Science Translational Medicine.

Precision medicine for suicidality: from universality to subtypes and personalization

N. Schork, G. Sandusky, A. Shekhar, 2017, Molecular Psychiatry.

Towards understanding and predicting suicidality in women: biomarkers and clinical risk assessment

N. Schork, G. Sandusky, A. Shekhar, 2016, Molecular Psychiatry.

Regulation of hepcidin transcription by interleukin-1 and interleukin-6.

E. Beutler, Pauline L. Lee, T. Gelbart, 2005, Proceedings of the National Academy of Sciences of the United States of America.

Five new Gaucher disease mutations.

E. Beutler, A. Zimran, T. Gelbart, 1995, Blood cells, molecules & diseases.

Mutations in Jewish patients with Gaucher disease

E. Beutler, C. West, T. Gelbart, 1992 .

Effect of Ozone on Red Blood Cell Enzymes and Intermediates

L. Forman, E. Beutler, T. Gelbart, 2000, Acta Haematologica.

Disruption of a novel regulatory element in the erythroid-specific promoter of the human PKLR gene causes severe pyruvate kinase deficiency.

F. Nielsen, E. Beutler, C. Nerlov, 2003, Blood.

Genome-wide expression profiling in the peripheral blood of patients with fibromyalgia.

Jill Waalen, R. Bennett, D. Ikle, 2016, Clinical and experimental rheumatology.

The Molecular Basis of a Case of γ-Glutamylcysteine Synthetase Deficiency

E. Beutler, T. Gelbart, T. Kondo, 1999 .

Seeking candidate mutations that affect iron homeostasis.

E. Beutler, Pauline L. Lee, C. West, 2002, Blood cells, molecules & diseases.

Evolution of the genome and the genetic code: selection at the dinucleotide level by methylation and polyribonucleotide cleavage.

J A Koziol, J. Koziol, J. Han, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Soluble Transferrin Receptor-1 Levels in Mice Do Not Affect Iron Absorption

E. Beutler, Pauline L. Lee, Jonathan M. Flanagan, 2006, Acta Haematologica.

Antibodies elicited by SARS-CoV-2 infection or mRNA vaccines have reduced neutralizing activity against Beta and Omicron pseudoviruses

Mark M. Davis, S. Vashee, R. Scheuermann, 2022, Science Translational Medicine.

In vivo survival studies of 51Cr-labeled methyl acetimidate treated erythrocytes in patients with sickle cell disease.

T. Gelbart, T. Gabuzda, M. Berenfeld, 1980, Blood.

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population.

E. Beutler, T. Gelbart, E Beutler, 2000, Blood.

Analytical and Clinical Validation of a Molecular Diagnostic Signature in Kidney Transplant Recipients

J. Friedewald, M. Abecassis, T. Whisenant, 2017 .

The effects of oxygen affinity and gelation of hemoglobin S crosslinked by reaction with methyl acetimidate.

T. Gelbart, T. Gabuzda, M. Berenfeld, 1981, Hemoglobin.

Genotypic and phenotypic heterogeneity of African Americans with primary iron overload.

J. Barton, E. Beutler, R. Acton, 2003, Blood cells, molecules & diseases.

Three Gaucher-Disease-Producing Mutations in a Patient with Gaucher Disease: Mechanism and Diagnostic Implications

E. Beutler, H. Liebman, T. Gelbart, 2001, Acta Haematologica.

Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures

J. Kelly, D. Salomon, T. Whisenant, 2016, Theranostics.

Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships.

J. Barton, E. Beutler, R. Acton, 2002, Blood cells, molecules & diseases.

Mutation analysis in hereditary hemochromatosis.

C. Venditti, E. Beutler, M. Kosty, 1996, Blood cells, molecules & diseases.

Mechanism of improved maintenance of 2,3-diphosphoglycerate in stored blood by the xanthone compound 2-(2-hydroxyethoxy)-6-(1-H-tetrazole-5-yl)xanthen-9-one (BW A440C).

L. Forman, E. Beutler, C. West, 1988, Biochemical pharmacology.

Hematologically important mutations: Gaucher disease.

E. Beutler, T. Gelbart, 1997, Blood cells, molecules & diseases.

Hematologically important mutations: Gaucher disease.

E. Beutler, T. Gelbart, 1998, Blood cells, molecules & diseases.

Fatal kernicterus in a girl deficient in glucose-6-phosphate dehydrogenase: a paradigm of synergistic heterozygosity.

D. Kidron, T. Gelbart, N. Roy‐Chowdhury, 2009, The Journal of pediatrics.

Hemolysis and Hyperbilirubinemia in an African American Neonate Heterozygous for Glucose-6-Phosphate Dehydrogenase Deficiency

T. Gelbart, M. Herschel, M. Kaplan, 2002, Journal of Perinatology.

Discovery and cross‐validation of peripheral blood and renal biopsy gene expression signatures from ethnically diverse kidney transplant populations

E. David‐Neto, D. Salomon, T. Whisenant, 2019, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

The human Nramp2 gene: characterization of the gene structure, alternative splicing, promoter region and polymorphisms.

E. Beutler, Pauline L. Lee, C. West, 1998, Blood cells, molecules & diseases.

Persistent immune and clotting dysfunction detected in saliva and blood plasma after COVID-19

Stephen A. Rawlings, Hyesun Jang, G. Tan, 2023, Heliyon.

Homology between a human protein and a protein of the green garden pea.

E. Beutler, Pauline L. Lee, W. Kuhl, 1994, Genomics.

Gaucher disease associated with a unique Kphl restriction site: identification of the amino‐acid substitution

E. Beutler, T. Gelbart, Ernest Beutler, 1990, Annals of human genetics.

Identification of six new Gaucher disease mutations.

E. Beutler, C. West, T. Gelbart, 1993, Genomics.

The Molecular Biology of Gaucher Disease

E. Beutler, C. West, J. Sorge, 1988 .