Shirleny R. Cardoso

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 12 publications

An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes.

An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes.

Journal: Epigenetics

Published: November 25, 2021

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.

Journal: Nature communications

Published: February 04, 2019

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.

Journal: Blood

Published: August 02, 2018

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: July 11, 2018

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.

Journal: Haematologica

Published: March 10, 2018

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.

Journal: Leukemia

Published: December 21, 2017

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.

Journal: Haematologica

Published: May 13, 2017

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Germline heterozygous DDX41 variants in a subset of familial myelodysplasia and acute myeloid leukemia.

Journal: Leukemia

Published: May 03, 2016

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

Journal: Haematologica

Published: April 20, 2016

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.

Journal: American journal of human genetics

Published: February 01, 2016

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Triallelic and epigenetic-like inheritance in human disorders of telomerase.

Journal: Blood

Published: March 12, 2015

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Journal: The Journal of clinical investigation

Published: September 24, 2014

Showing 1-12 of 12

Last Updated: 09/26/2026