Inderjeet Dokal

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

Guidelines for the diagnosis and management of adult aplastic anaemia

Sally Killick, Nick Bown, Jamie Cavenagh et al. · British Journal of Haematology · 2015 · 729 citations

The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity

Markus G. Seidel, Gerhard Kindle, Benjamin Gathmann et al. · The Journal of Allergy and Clinical Immunology In Practice · 2019 · 581 citations · Full text

Primary Immunodeficiency, Vaccination, Maternal Immunization +10

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