Philip J. Mason

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

Tom Vulliamy, Anna Marrone, Frederick D. Goldman et al. · Nature · 2001 · 948 citations

Genome Instability, Engineering, Genetic Disorder +7

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

Nina S. Heiss, S. W. Knight, Tom Vulliamy et al. · Nature Genetics · 1998 · 944 citations

Genome Instability, Mendelian Disorder, Genetic Disorder +10

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.

Pier Paolo Pandolfi, F. Sonati, Roberta Rivi et al. · The EMBO Journal · 1995 · 550 citations · Full text

Glucose 6-Phosphate Dehydrogenase, Biosynthesis, Aldehyde Dehydrogenase +9

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

Tom Vulliamy, Anna Marrone, Richard Szydlo et al. · Nature Genetics · 2004 · 459 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +9

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

Monica Bessler, Philip J. Mason, Peter Hillmen et al. · The EMBO Journal · 1994 · 401 citations · Full text

Somatic Mutations, Heme Homeostasis, Genetic Disorder +11