D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Genetics D-index 59 Citations 13,251 122 World Ranking 2434 National Ranking 1069

Overview

What is he best known for?

The fields of study he is best known for:

  • Gene
  • Mutation
  • DNA

Philip J. Mason spends much of his time researching Dyskerin, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Telomerase and TINF2. His Dyskeratosis congenita research is within the category of Genetics. Philip J. Mason mostly deals with Mutation in his studies of Genetics.

As a member of one scientific family, Philip J. Mason mostly works in the field of Telomerase, focusing on Telomere and, on occasion, Bone marrow failure and Aplastic anemia. The TINF2 study which covers Immunology that intersects with Microcephaly. His study in Telomerase RNA component is interdisciplinary in nature, drawing from both RNA and Germline.

His most cited work include:

  • The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita (803 citations)
  • X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions (725 citations)
  • Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC (362 citations)

What are the main themes of his work throughout his whole career to date?

His primary scientific interests are in Genetics, Dyskeratosis congenita, Molecular biology, Telomerase and Gene. His study focuses on the intersection of Genetics and fields such as Enzyme with connections in the field of Recombinant DNA. Dyskerin is the focus of his Dyskeratosis congenita research.

His biological study deals with issues like Hoyeraal-Hreidarsson syndrome, which deal with fields such as TINF2. His research on Molecular biology also deals with topics like

  • Hemolytic anemia most often made with reference to Glucose-6-phosphate dehydrogenase,
  • Biochemistry and related Plasmodium falciparum. As part of the same scientific family, Philip J. Mason usually focuses on Telomerase, concentrating on Stem cell and intersecting with Bone marrow.

He most often published in these fields:

  • Genetics (49.61%)
  • Dyskeratosis congenita (44.88%)
  • Molecular biology (41.73%)

What were the highlights of his more recent work (between 2008-2016)?

  • Dyskeratosis congenita (44.88%)
  • Molecular biology (41.73%)
  • Telomerase (40.94%)

In recent papers he was focusing on the following fields of study:

Philip J. Mason mainly investigates Dyskeratosis congenita, Molecular biology, Telomerase, Dyskerin and Telomere. His Dyskeratosis congenita research is multidisciplinary, incorporating elements of Mutation, Germline mutation, Bone marrow failure and Pathology. Mutation is a subfield of Genetics that Philip J. Mason investigates.

In his study, which falls under the umbrella issue of Bone marrow failure, Cancer research, TINF2, Stop codon and Missense mutation is strongly linked to Immunology. His Molecular biology research is multidisciplinary, relying on both RNA, Stem cell and Mutant. His study in the field of Telomerase RNA component and Telomere Maintenance Gene also crosses realms of Skin hyperpigmentation.

Between 2008 and 2016, his most popular works were:

  • First measurement of electron neutrino appearance in NOvA (181 citations)
  • First measurement of muon-neutrino disappearance in NOvA (109 citations)
  • TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements (105 citations)

In his most recent research, the most cited papers focused on:

  • Gene
  • Mutation
  • DNA

Philip J. Mason focuses on Molecular biology, Stem cell, Telomerase, Untranslated region and Genetic enhancement. His Telomerase study focuses mostly on Dyskerin and Dyskeratosis congenita. His Dyskerin research integrates issues from Hematopoietic stem cell and Senescence, Cell aging.

His Dyskeratosis congenita study integrates concerns from other disciplines, such as Cancer research and TERT Gene Mutation. His Untranslated region study combines topics from a wide range of disciplines, such as Haematopoiesis, Hematopoietic Tissue, Transgene, Myeloproliferative Disorders and Bone marrow. His work carried out in the field of Telomere brings together such families of science as Immunology, Bone marrow failure, Telomerase RNA component and Mutation.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

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

Tom Vulliamy;Anna Marrone;Frederick Goldman;Andrew Dearlove.
Nature (2001)

1095 Citations

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.
Nature Genetics (1998)

1092 Citations

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.
Nature Genetics (2004)

505 Citations

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

M Bessler;P J Mason;P Hillmen;T Miyata.
The EMBO Journal (1994)

429 Citations

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

Andrew S. Venteicher;Zhaojing Meng;Philip J. Mason;Timothy D. Veenstra.
Cell (2008)

385 Citations

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.
Blood (2006)

376 Citations

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.
Nature Genetics (2003)

351 Citations

Glucose-6-phosphate dehydrogenase deficiency

Atul Mehta;Philip J. Mason;Tom J. Vulliamy.
Baillière's clinical haematology (2000)

342 Citations

Association between aplastic anaemia and mutations in telomerase RNA

Tom Vulliamy;Anna Marrone;Inderjeet Dokal;Philip J Mason.
The Lancet (2002)

335 Citations

G6PD deficiency: the genotype-phenotype association

Philip J Mason;José M Bautista;Florinda Gilsanz.
Blood Reviews (2007)

325 Citations

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