Works by Reading, N. Scott

Results: 21

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.

Published in:

2025

By:

Tarrell, Ariel;
Weber, Jessika;
Shawar, Reem;
Brunelli, Luca;
Morelli, Susan;
Bayrak-Toydemir, Pinar;
Doughty, Elizabeth;
Akay, Gulsen;
Botto, Lorenzo D.;
Flemming, Emily;
Reading, N. Scott;
Jaramillo, Catalina;
Balraj, Mittal

Publication type:

Case Study

Direct Electron Transfer Between Graphite Electrodes and Ligninolytic Peroxidases from Phanerochaete chrysosporium.

Published in:

Electroanalysis, 2002, v. 14, n. 19/20, p. 1411, doi. 10.1002/1521-4109(200211)14:19/20<1411::AID-ELAN1411>3.0.CO;2-1

By:

Ferapontova, Elena E.;
Reading, N. Scott;
Aust, Steven D.;
Ruzgas, Tautgirdas;
Gorton, Lo

Publication type:

Article

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.

Published in:

American Journal of Hematology, 2021, v. 96, n. 12, p. E448, doi. 10.1002/ajh.26356

By:

Meznarich, Jessica A.;
Rets, Anton;
Agarwal, Archana M.;
Christensen, Robert D.;
Reading, N. Scott;
Kuypers, Frans A.;
Prchal, Josef T.

Publication type:

Article

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

Published in:

American Journal of Hematology, 2021, v. 96, n. 5, p. E150, doi. 10.1002/ajh.26121

By:

Kim, Soo Jin;
Song, Jihyun;
Reading, N. Scott;
Lautersztain, Julio;
Kutlar, Abdullah;
Agarwal, Archana M.;
Coetzer, Theresa L.;
Prchal, Josef T.

Publication type:

Article

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

Published in:

American Journal of Hematology, 2020, v. 95, n. 11, p. 1269, doi. 10.1002/ajh.25941

By:

Gordeuk, Victor R.;
Shah, Binal N.;
Zhang, Xu;
Thuma, Philip E.;
Zulu, Stenford;
Moono, Rodgers;
Reading, N. Scott;
Song, Jihyun;
Zhang, Yingze;
Nouraie, Mehdi;
Campbell, Andrew;
Minniti, Caterina P.;
Rana, Sohail R.;
Darbari, Deepika S.;
Kato, Gregory J.;
Niu, Mei;
Castro, Oswaldo L.;
Machado, Roberto;
Gladwin, Mark T.;
Prchal, Josef T.

Publication type:

Article

A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.

Published in:

American Journal of Hematology, 2017, v. 92, n. 5, p. 474, doi. 10.1002/ajh.24683

By:

Reading, N. Scott;
Ruiz-Bonilla, José A.;
Christensen, Robert D.;
Cáceres-Perkins, William;
Prchal, Josef T.

Publication type:

Article

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

Published in:

Clinical Genetics, 2020, v. 98, n. 6, p. 525, doi. 10.1111/cge.13772

By:

Sirdah, Mahmoud M.;
Reading, N. Scott

Publication type:

Article

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

Published in:

Genes, 2023, v. 14, n. 3, p. 640, doi. 10.3390/genes14030640

By:

Amaru, Ricardo;
Song, Jihyun;
Reading, N. Scott;
Gordeuk, Victor R.;
Prchal, Josef T.

Publication type:

Article

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

Published in:

Neonatology (16617800), 2020, v. 117, n. 4, p. 532, doi. 10.1159/000510300

By:

Bahr, Timothy M.;
Lozano-Chinga, Michell;
Agarwal, Archana M.;
Meznarich, Jessica A.;
Yost, Christian C.;
Li, Peng;
Reading, N. Scott;
Prchal, Josef T.;
Christensen, Robert D.

Publication type:

Article

Variations in Both α-Spectrin (SPTA1) and β-Spectrin (SPTB) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis.

Published in:

Neonatology (16617800), 2013, v. 105, n. 1, p. 1, doi. 10.1159/000354884

By:

Christensen, Robert D.;
Nussenzveig, Roberto H.;
Reading, N. Scott;
agarwal, archana M.;
Prchal, Josef T.;
Yaish, Hassan M.

Publication type:

Article

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b5 reductase deficiency in cats.

Published in:

Journal of Veterinary Internal Medicine, 2019, v. 33, n. 6, p. 2725, doi. 10.1111/jvim.15637

By:

Jaffey, Jared A.;
Reading, N. Scott;
Giger, Urs;
Abdulmalik, Osheiza;
Buckley, Ruben M.;
Johnstone, Sophie;
Lyons, Leslie A.

Publication type:

Article

Expression of the Rho-family GTPase gene RHOF in lymphocyte subsets and malignant lymphomas.

Published in:

British Journal of Haematology, 2005, v. 129, n. 4, p. 531, doi. 10.1111/j.1365-2141.2005.05481.x

By:

Gouw, Launce G.;
Reading, N. Scott;
Jenson, Stephen D.;
Lim, Megan S.;
Elenitoba-Johnson, Kojo S. J.

Publication type:

Article

Possible association of 3′ UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.

Published in:

Hematology, 2017, v. 22, n. 6, p. 370, doi. 10.1080/10245332.2016.1276117

By:

Sirdah, Mahmoud M.;
Shubair, Mohammad E.;
Al-Kahlout, Mustafa S.;
Al-Tayeb, Jamal M.;
Prchal, Josef T.;
Reading, N. Scott

Publication type:

Article

Detection of Acquired Janus Kinase 2 V617F Mutation in Myeloproliferative Disorders by Fluorescence Melting Curve Analysis.

Published in:

Molecular Diagnosis & Therapy, 2006, v. 10, n. 5, p. 311, doi. 10.1007/BF03256206

By:

Reading, N. Scott;
Lim, Megan S.;
Elenitoba-Johnson, Kojo S. J.

Publication type:

Article

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.

Published in:

Journal of Molecular Medicine, 2017, v. 95, n. 6, p. 665, doi. 10.1007/s00109-017-1519-3

By:

Tashi, Tsewang;
Scott Reading, N.;
Wuren, Tanna;
Zhang, Xu;
Moore, Lorna;
Hu, Hao;
Tang, Feng;
Shestakova, Anna;
Lorenzo, Felipe;
Burjanivova, Tatiana;
Koul, Parvaiz;
Guchhait, Prasenjit;
Wittwer, Carl T.;
Julian, Colleen;
Shah, Binal;
Huff, Chad;
Gordeuk, Victor;
Prchal, Josef;
Ge, RiLi

Publication type:

Article

Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.

Published in:

Hemoglobin, 2020, v. 44, n. 2, p. 128, doi. 10.1080/03630269.2020.1763398

By:

Samha, Leen;
Sirdah, Mahmoud M.;
Reading, N. Scott;
Karmi, Bashar;
Agarwal, Archana M.

Publication type:

Article

Detection of Nine Mediterranean β-Thalassemia Mutations in Palestinians Using Three Restriction Enzyme Digest Panels: A Reliable Method for Developing Countries.

Published in:

Hemoglobin, 2014, v. 38, n. 1, p. 39, doi. 10.3109/03630269.2013.845105

By:

Reading, N. Scott;
Sirdah, Mahmoud M.;
Tarazi, Issa S.;
Prchal, Josef T.

Publication type:

Article

Engineering a Disulfide Bond in Recombinant Manganese Peroxidase Results in Increased Thermostability.

Published in:

Biotechnology Progress, 2000, v. 16, n. 3, p. 326, doi. 10.1021/bp0000151

By:

Reading, N. Scott;
Aust, Steven D.

Publication type:

Article

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.

Published in:

Human Mutation, 2016, v. 37, n. 11, p. 1153, doi. 10.1002/humu.23061

By:

Reading, N. Scott;
Shooter, Claire;
Song, Jihyun;
Miller, Robin;
Agarwal, Archana;
Lanikova, Lucie;
Clark, Barnaby;
Thein, Swee Lay;
Divoky, Vladimir;
Prchal, Josef T.

Publication type:

Article

Three Novel Spectrin Variants in Jaundiced Neonates.

Published in:

Clinical Pediatrics, 2018, v. 57, n. 1, p. 19, doi. 10.1177/0009922816687326

By:

Christensen, Robert D.;
Agarwal, Archana M.;
Yaish, Hassan M.;
Reading, N. Scott;
O’Brien, Elizabeth A.;
Prchal, Josef T.

Publication type:

Article

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

Published in:

European Journal of Haematology, 2023, v. 110, n. 6, p. 688, doi. 10.1111/ejh.13951

By:

Agarwal, Archana M.;
McMurty, Valarie;
Clayton, Adam L.;
Bolia, Ashini;
Reading, N. Scott;
Mani, Coumarane;
Patel, Jay L.;
Rets, Anton

Publication type:

Article

Works by Reading, N. Scott

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.

Direct Electron Transfer Between Graphite Electrodes and Ligninolytic Peroxidases from Phanerochaete chrysosporium.

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.

The CYB5R3<sup>c</sup><sup>.350C>G</sup> and G6PD A alleles modify severity of anemia in malaria and sickle cell disease.

A patient with both methemoglobinemia and G6PD deficiency: A therapeutic conundrum.

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

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

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

Variations in Both α-Spectrin (SPTA1) and β-Spectrin (SPTB) in a Neonate with Prolonged Jaundice in a Family where Nine Individuals Had Hereditary Elliptocytosis.

Clinical, metabolic, and genetic characterization of hereditary methemoglobinemia caused by cytochrome b<sub>5</sub> reductase deficiency in cats.

Expression of the Rho-family GTPase gene RHOF in lymphocyte subsets and malignant lymphomas.

Possible association of 3′ UTR +357 A>G, IVS11-nt 93 T>C, c.1311 C>T polymorphism with G6PD deficiency.

Detection of Acquired Janus Kinase 2 V617F Mutation in Myeloproliferative Disorders by Fluorescence Melting Curve Analysis.

Gain-of-function EGLN1 prolyl hydroxylase (PHD2 D4E:C127S) in combination with EPAS1 (HIF-2α) polymorphism lowers hemoglobin concentration in Tibetan highlanders.

Molecular Understanding of Severe Cases of β-Thalassemia in the Nablus Region, West Bank, Palestine.

Detection of Nine Mediterranean β-Thalassemia Mutations in Palestinians Using Three Restriction Enzyme Digest Panels: A Reliable Method for Developing Countries.

Engineering a Disulfide Bond in Recombinant Manganese Peroxidase Results in Increased Thermostability.

Loss of Major DNase I Hypersensitive Sites in Duplicated β-globin Gene Cluster Incompletely Silences HBB Gene Expression.

Three Novel Spectrin Variants in Jaundiced Neonates.

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