Detalhe da pesquisa
1.
Functional annotation of breast cancer risk loci: current progress and future directions.
Br J Cancer
; 126(7): 981-993, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34741135
2.
Genome instability is a consequence of transcription deficiency in patients with bone marrow failure harboring biallelic ERCC6L2 variants.
Proc Natl Acad Sci U S A
; 115(30): 7777-7782, 2018 07 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-29987015
3.
DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.
Am J Hum Genet
; 99(1): 115-24, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27346687
4.
Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Blood
; 126(2): 176-84, 2015 Jul 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26024875
5.
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Haematologica
; 101(10): 1180-1189, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27612988
6.
Homozygous OB-fold variants in telomere protein TPP1 are associated with dyskeratosis congenita-like phenotypes.
Blood
; 132(12): 1349-1353, 2018 09 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30064976
7.
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.
Haematologica
; 103(7): e284-e287, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519864
8.
Myelodysplasia and liver disease extend the spectrum of RTEL1 related telomeropathies.
Haematologica
; 102(8): e293-e296, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28495916
9.
An integrative epi-transcriptomic approach identifies the human cartilage chitinase 3-like protein 2 (CHI3L2) as a potential mediator of B12 deficiency in adipocytes.
Epigenetics
; 17(10): 1219-1233, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34818986
10.
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Nat Commun
; 11(1): 1044, 2020 02 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32098966
11.
Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
J Clin Invest
; 125(5): 2151-60, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25893599
12.
GATA2 monoallelic expression underlies reduced penetrance in inherited GATA2-mutated MDS/AML.
Leukemia
; 32(11): 2502-2507, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29749400