Detalhe da pesquisa
1.
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
Hum Genet;
143(3): 437-453, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38520561
2.
Myelodysplasia after clonal hematopoiesis with APOBEC3-mediated CYBB inactivation in retroviral gene therapy for X-CGD.
Mol Ther;
31(12): 3424-3440, 2023 Dec 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37705244
3.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Am J Hum Genet;
107(6): 1096-1112, 2020 12 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33232675
4.
Dominant-negative variants in CBX1 cause a neurodevelopmental disorder.
Genet Med;
25(7): 100861, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37087635
5.
A novel Menin-MLL1 inhibitor, DS-1594a, prevents the progression of acute leukemia with rearranged MLL1 or mutated NPM1.
Cancer Cell Int;
23(1): 36, 2023 Feb 25.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36841758
6.
Quantitative assessment of copy number alterations by liquid biopsy for neuroblastoma.
Genes Chromosomes Cancer;
61(11): 662-669, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35655408
7.
Analysis of CACTA transposase genes unveils the mechanism of intron loss and distinct small RNA silencing pathways underlying divergent evolution of Brassica genomes.
Plant J;
105(1): 34-48, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33098166
8.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Am J Hum Genet;
105(5): 987-995, 2019 11 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31587868
9.
Genotype-Phenotype Correlation of Distal 2q37 Deletions.
Cytogenet Genome Res;
162(5): 237-243, 2022.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36516793
10.
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome.
Am J Hum Genet;
103(3): 440-447, 2018 09 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30146126
11.
Copy number alteration analysis for neuroblastoma using droplet digital polymerase chain reaction.
Pediatr Int;
63(10): 1192-1197, 2021 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33462952
12.
Evolutionary basis of HLA-DPB1 alleles affects acute GVHD in unrelated donor stem cell transplantation.
Blood;
131(7): 808-817, 2018 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29246901
13.
Prognostic relevance of integrated genetic profiling in adult T-cell leukemia/lymphoma.
Blood;
131(2): 215-225, 2018 01 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29084771
14.
Gene expression and risk of leukemic transformation in myelodysplasia.
Blood;
130(24): 2642-2653, 2017 12 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29097382
15.
Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia.
N Engl J Med;
373(1): 35-47, 2015 Jul 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26132940
16.
Variegated RHOA mutations in adult T-cell leukemia/lymphoma.
Blood;
127(5): 596-604, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26574607
17.
ASXL2 regulates hematopoiesis in mice and its deficiency promotes myeloid expansion.
Haematologica;
103(12): 1980-1990, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30093396
18.
DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.
Am J Med Genet A;
176(1): 241-245, 2018 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29130632
19.
Myelodysplastic syndrome in a patient with Barth syndrome (3-methylglutaconic aciduria type II).
Pediatr Blood Cancer;
70(3): e30033, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36184828
20.
BRCA1 alterations with additional defects in DNA damage response genes may confer chemoresistance to BRCA-like breast cancers treated with neoadjuvant chemotherapy.
Genes Chromosomes Cancer;
56(5): 405-420, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28124401