Noel Reading

Adjunct Associate Professor

University of Utah

United States

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About

Noel Reading is an Adjunct Associate Professor at The University of Utah. His research encompasses genetic disorders, with recent articles exploring topics such as the clinical utility of targeted next-generation sequencing for hereditary conditions, and genetic predispositions in type 2 diabetes. His work also addresses evolutionary genetic adaptation to high altitude hypoxia and the genotyping of specific mutations linked to various hematological and metabolic disorders.

Articles (10)

Year:

2024

Year:

2023

Year:

2023

Year:

2022

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2022

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2021

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2021

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2020

Year:

2020

Year:

2020

Collaborators (3)

Josef T. Prchal

UNITED STATES

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Jared Jaffey

Assistant Professor

Midwestern University

UNITED STATES

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Jason Struthers

Michigan State University College of Veterinary Medicine

UNITED STATES

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Noel Reading

Research Interests

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Articles (10)

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

“What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras”

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

Oral Methylene Blue Treatment in A Dog with Cytochrome B5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development

Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, “Hemoglobin St. George”) in a healthy child with low oxygen saturations and anemia

Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

The CYB5R3c.350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease

A Novel Variant in <b><i>G6PD</i></b> (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Collaborators (3)

Josef T. Prchal

Jared Jaffey

Jason Struthers

Make your next move.

Noel Reading

Research Interests

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Contact this professor

About

Articles (10)

A Single Multiplex PCR and Single-Nucleotide Extension Assay for the Detection of Common Thanatophoric Dysplasia I and II Mutations

Clinical utility of targeted next‐generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience

“What We Know and What We Do Not Know about Evolutionary Genetic Adaptation to High Altitude Hypoxia in Andean Aymaras”

A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia

Oral Methylene Blue Treatment in A Dog with Cytochrome B5 Reductase Deficiency And 78, XX Testicular Disorder of Sex Development

Novel, de novo, beta‐globin variant with decreased oxygen affinity (HBB:c.317T>A, “Hemoglobin St. George”) in a healthy child with low oxygen saturations and anemia

Novel mechanism of hereditary pyropoikilocytosis phenotype due to co‐inheritance of β globin and α spectrin mutations

Genetic predisposition in type 2 diabetes: A promising approach toward a personalized management of diabetes

The CYB5R3c.350C>G and G6PD A alleles modify severity of anemia in malaria and sickle cell disease

A Novel Variant in <b><i>G6PD</i></b> (c.1375C&#x3e;G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity

Collaborators (3)

Josef T. Prchal

Jared Jaffey

Jason Struthers

Make your next move.

A Novel Variant in <b><i>G6PD</i></b> (c.1375C>G) Identified from a Hispanic Neonate with Extreme Hyperbilirubinemia and Low G6PD Enzymatic Activity