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Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial

The Journal of molecular diagnostics : JMD, 2017-03, Vol.19 (2), p.313-327

2017

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Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial

The Journal of molecular diagnostics : JMD, 2017-03, Vol.19 (2), p.313-327

2017

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Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan

The lancet oncology, 2021-03, Vol.22 (3), p.306-307

2021

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Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

Journal of the American Society of Nephrology, 2003-12, Vol.14 (12), p.3027-3038

2003

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Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy

Blood cells, molecules, & diseases, 2021-03, Vol.87, p.102532-102532, Article 102532

2021

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Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia

Blood advances, 2023-09, Vol.7 (17), p.5156-5171

2023

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Yale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing

The lancet oncology, 2020-03, Vol.21 (3), p.343-344

2020

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Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Blood, 2018-07, Vol.132 (4), p.448-455

2018

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EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas

Applied immunohistochemistry & molecular morphology, 2020-11, Vol.28 (10), p.725-730

2020

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Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features

The Journal of molecular diagnostics : JMD, 2007-07, Vol.9 (3), p.320-326

2007

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Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting

American journal of physiology. Renal physiology, 2013-03, Vol.304 (5), p.F522-F532

2013

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Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

Pediatrics (Evanston), 2013-02, Vol.131 (2), p.e620-e625

2013

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Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H +-ATPase B1-subunit

Gene, 2003-10, Vol.318, p.25-34

2003

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Iron homeostasis: casting new roles

Blood, 2008-09, Vol.112 (6), p.2181-2181

Finberg, Karin E.

2008

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Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Nature genetics, 1999-01, Vol.21 (1), p.84-90

1999

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Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Murine ß-Thalassemia

Blood, 2023-11, Vol.142 (Supplement 1), p.3851-3851

2023

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NCOA4 Expression in Hepatic Cells Is Upregulated Under Physiological and Pathophysiological Conditions Associated with Hypoxia

Blood, 2019-11, Vol.134 (Supplement_1), p.431-431

2019

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Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia

Blood, 2021-11, Vol.138 (Supplement 1), p.759-759

2021

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Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis

The American journal of dermatopathology, 2013-05, Vol.35 (3), p.351-356

2013

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Case 40-2006: A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol

The New England journal of medicine, 2006-12, Vol.355 (26), p.2772-2779

2006

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NCOA4 Mediates Mobilization of Hepatic Iron Stores after Blood Loss

Blood, 2018-11, Vol.132 (Supplement 1), p.1046-1046

2018

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Identification of a Novel SLC40A1 Arg88Ile Mutation in a Patient with Familial Iron Overload Treated By Phlebotomy

Blood, 2015-12, Vol.126 (23), p.954-954

2015

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The Tmprss6-/- Mouse Model of Iron Refractory Iron Deficiency Anemia (IRIDA) Exhibits Disrupted Phosphate Homeostasis, Elevated Circulating FGF23 Levels, and Increased Fgf23 Expression in Bone Marrow

Blood, 2017-12, Vol.130, p.228-228

2017

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NCOA4 Acts in Hepatocytes to Regulate Ferritin Subunit Levels and Hepatic Iron Storage

Blood, 2017-12, Vol.130, p.225-225

2017

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Low Iron Promotes Megakaryocytic Commitment of Megakaryocytic-Erythroid Progenitors in Human and Mice

Blood, 2018-11, Vol.132 (Supplement 1), p.2-2

2018

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Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial: Molecular Analysis for Therapy Choice Clinical Trial

Analytical Validation of the Next-Generation Sequencing Assay for a Nationwide Signal-Finding Clinical Trial

Yale Cancer Center Precision Medicine Tumor Board: molecular findings alter a diagnosis and treatment plan

Localization and regulation of the ATP6V0A4 (a4) vacuolar H+-ATPase subunit defective in an inherited form of distal renal tubular acidosis

Functional characterization of a novel SLC40A1 Arg88Ile mutation in a kindred with familial iron overload treated by phlebotomy

Bone marrow sinusoidal endothelial cells are a site of Fgf23 upregulation in a mouse model of iron deficiency anemia

Yale Cancer Center Precision Medicine Tumor Board: new technology, new drugs, and the value of repeat testing

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

EBV-Positive Primary Large B-Cell Lymphoma: The Role of Immunohistochemistry and XPO1 in the Diagnosis of Mediastinal Lymphomas

Mucinous Differentiation Correlates with Absence of EGFR Mutation and Presence of KRAS Mutation in Lung Adenocarcinomas with Bronchioloalveolar Features

Altered V-ATPase expression in renal intercalated cells isolated from B1 subunit-deficient mice by fluorescence-activated cell sorting

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H +-ATPase B1-subunit

Iron homeostasis: casting new roles

Mutations in the gene encoding B1 subunit of H + -ATPase cause renal tubular acidosis with sensorineural deafness

Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Murine ß-Thalassemia

NCOA4 Expression in Hepatic Cells Is Upregulated Under Physiological and Pathophysiological Conditions Associated with Hypoxia

Bone Marrow Sinusoidal Endothelial Cells Are a Site of Fgf23 Upregulation in Iron Deficiency Anemia

Fibrosis-associated single-nucleotide polymorphisms in TGFB1 and CAV1 are not associated with the development of nephrogenic systemic fibrosis

Case 40-2006: A 64-Year-Old Man with Anemia and a Low Level of HDL Cholesterol

NCOA4 Mediates Mobilization of Hepatic Iron Stores after Blood Loss

Identification of a Novel SLC40A1 Arg88Ile Mutation in a Patient with Familial Iron Overload Treated By Phlebotomy

The Tmprss6-/- Mouse Model of Iron Refractory Iron Deficiency Anemia (IRIDA) Exhibits Disrupted Phosphate Homeostasis, Elevated Circulating FGF23 Levels, and Increased Fgf23 Expression in Bone Marrow

NCOA4 Acts in Hepatocytes to Regulate Ferritin Subunit Levels and Hepatic Iron Storage

Low Iron Promotes Megakaryocytic Commitment of Megakaryocytic-Erythroid Progenitors in Human and Mice

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