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Genetics

D-Index
65
Citations
16434
World Ranking
2694
National Ranking
1184

Overview

Philip J. Mason is affiliated with the Children's Hospital of Philadelphia in the United States. Their research primarily focuses on fields within the Arts and Humanities, with key contributions to Archaeology, Paleontology, and History. The main topics of their scholarly work include Ancient and Medieval Archaeology Studies, Ancient Mediterranean Archaeology and History, Archaeology and ancient environmental studies, and Historical and Archaeological Studies.

Philip J. Mason has participated in publications across several venues. Frequent publication outlets include:

  • Arheološki vestnik
  • UNC Libraries
  • Journal of the Academy of Nutrition and Dietetics

Their recent papers demonstrate a range of interests within archaeology and related disciplines. These include:

  • "Poselitev Bele krajine v prvi polovici 1. tisocletja pr. n. st. v luci novih raziskav" (2020, Arheološki vestnik)
  • "Dolge njive - Draga: Roman Crucium? The Roman roadside settlement in Dolenjska (southeast Slovenia)" (2024, Arheološki vestnik)
  • "Mice with a Mutation in the Mdm2 Gene That Interferes with MDM2/Ribosomal Protein Binding Develop a Defect in Erythropoiesis" (2020, UNC Libraries)
  • "To Count or Not to Count: Appropriate Use of Calorie Counts in the Acute Care Setting" (2025, Journal of the Academy of Nutrition and Dietetics)

Philip J. Mason's frequent coauthors include:

  • Katarina Udovč
  • Takuya Kamio
  • Bai-Wei Gu
  • Timothy S. Olson
  • Yanping Zhang

The scholar has also contributed to book publications, with at least one known title published by Apress eBooks:

  • "SAS Stored Processes" (2020)

Best Publications

  • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

    Nina S. Heiss;Stuart W. Knight;Tom J. Vulliamy;Sabine M. Klauck

  • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

    Tom Vulliamy;Anna Marrone;Frederick Goldman;Andrew Dearlove

  • Targeted disruption of the housekeeping gene encoding glucose 6-phosphate dehydrogenase (G6PD): G6PD is dispensable for pentose synthesis but essential for defense against oxidative stress

    P.P. Pandolfi;F. Sonati;R. Rivi;P. Mason

  • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

    Tom Vulliamy;Anna Marrone;Richard Szydlo;Amanda Walne

  • Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

    M Bessler;P J Mason;P Hillmen;T Miyata

  • Identification of ATPases Pontin and Reptin as Telomerase Components Essential for Holoenzyme Assembly

    Andrew S. Venteicher;Zhaojing Meng;Philip J. Mason;Timothy D. Veenstra

  • Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation.

    Tom J. Vulliamy;Tom J. Vulliamy;Tom J. Vulliamy;Anna Marrone;Anna Marrone;Anna Marrone;Stuart W. Knight;Stuart W. Knight;Stuart W. Knight;Amanda Walne;Amanda Walne;Amanda Walne

  • G6PD deficiency: the genotype-phenotype association

    Philip J Mason;José M Bautista;Florinda Gilsanz

  • Glucose-6-phosphate dehydrogenase deficiency

    Atul Mehta;Philip J. Mason;Tom J. Vulliamy

  • Mutations in the genes encoding 11β-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

    Nicole Draper;Elizabeth A Walker;Iwona J Bujalska;Jeremy W Tomlinson

  • Association between aplastic anaemia and mutations in telomerase RNA

    Tom Vulliamy;Anna Marrone;Inderjeet Dokal;Philip J Mason

  • First measurement of electron neutrino appearance in NOvA

    P. Adamson;C. Ader;M. Andrews;N. Anfimov

  • X-Linked Dyskeratosis Congenita Is Predominantly Caused by Missense Mutations in the DKC1 Gene

    S.W. Knight;N.S. Heiss;T.J. Vulliamy;S. Greschner

  • The role of human ribosomal proteins in the maturation of rRNA and ribosome production

    Sara Robledo;Rachel A. Idol;Dan L. Crimmins;Jack H. Ladenson

  • Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita.

    Tom J Vulliamy;Stuart W Knight;Philip J Mason;Inderjeet Dokal

  • Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal‐Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

    S. W. Knight;N. S. Heiss;T. J. Vulliamy;C. M. Aalfs

  • Quantification of residual disease in chronic myelogenous leukemia patients on interferon-alpha therapy by competitive polymerase chain reaction.

    A Hochhaus;F Lin;A Reiter;H Skladny

  • Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

    Yuko Mochizuki;Jun He;Shashikant Kulkarni;Monica Bessler

  • Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen.

    A Neil Turner;P J Mason;R Brown;M Fox

  • Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

    Stuart Knight;Tom Vulliamy;Adrian Copplestone;Eliane Gluckman

Frequent Co-Authors

Monica Bessler
Monica Bessler Children's Hospital of Philadelphia
Tom Vulliamy
Tom Vulliamy Queen Mary University of London
Lucio Luzzatto
Lucio Luzzatto University of Florence
Inderjeet Dokal
Inderjeet Dokal Queen Mary University of London
David B. Wilson
David B. Wilson Washington University in St. Louis
J. K. Nelson
J. K. Nelson William & Mary
P. Lukens
P. Lukens Fermilab
Neil C. Turner
Neil C. Turner University of Western Australia
Khedoudja Nafa
Khedoudja Nafa Memorial Sloan Kettering Cancer Center
Harvey B Newman
Harvey B Newman California Institute of Technology

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