Detalhe da pesquisa
1.
Massively parallel base editing to map variant effects in human hematopoiesis.
Cell
; 186(11): 2456-2474.e24, 2023 05 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-37137305
2.
Biallelic inactivation of the NF1 tumour suppressor gene in juvenile myelomonocytic leukaemia: Genetic evidence of driver function and implications for diagnostic workup.
Br J Haematol
; 204(2): 595-605, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37945316
3.
Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.
Blood
; 139(7): 1039-1051, 2022 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34767620
4.
Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.
Haematologica
; 109(2): 422-430, 2024 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584291
5.
HNRNPR Variants that Impair Homeobox Gene Expression Drive Developmental Disorders in Humans.
Am J Hum Genet
; 104(6): 1040-1059, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31079900
6.
GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects.
Br J Haematol
; 199(4): 482-495, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753998
7.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Nucleic Acids Res
; 48(2): 770-787, 2020 01 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31799629
8.
Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita.
Br J Haematol
; 193(3): 669-673, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32744739
9.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica
; 106(5): 1303-1310, 2021 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32241839
10.
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Am J Hematol
; 96(11): 1491-1504, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342889
11.
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Am J Hum Genet
; 100(3): 506-522, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257692
12.
ERCC6L2 syndrome: attack of the TP53 clones.
Blood
; 141(23): 2788-2789, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37289478
13.
Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study.
Blood
; 131(20): 2183-2192, 2018 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29549173
14.
Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.
Am J Hematol
; 95(5): 472-482, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043619
15.
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment.
J Pediatr Hematol Oncol
; 42(4): e235-e237, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30933022
16.
The rise of Apollo, protector of telomeres.
Blood
; 139(16): 2415-2416, 2022 04 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35446379
17.
Development of a centralised triage centre for children with cancer and blood disorders in response to the humanitarian crisis in Ukraine.
Lancet Oncol
; 24(12): 1315-1318, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38039989
18.
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia.
Hum Mutat
; 39(8): 1102-1111, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29766597
19.
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Blood
; 127(11): 1387-97; quiz 1518, 2016 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-26702063
20.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Blood
; 138(23): 2441-2445, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469508