Detalhe da pesquisa
1.
Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation.
Am J Hum Genet
; 111(4): 761-777, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38503299
2.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
3.
Genomic and outcome analyses of Ph-like ALL in NCI standard-risk patients: a report from the Children's Oncology Group.
Blood
; 132(8): 815-824, 2018 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29997224
4.
Targetable kinase gene fusions in high-risk B-ALL: a study from the Children's Oncology Group.
Blood
; 129(25): 3352-3361, 2017 06 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-28408464
5.
Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.
Pediatr Cardiol
; 40(8): 1679-1687, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31535183
6.
Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Cytogenet Genome Res
; 152(2): 105-109, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28746920
7.
Immune Reconstitution after Hematopoietic Stem Cell Transplantation in Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1.
J Clin Immunol
; 41(5): 1089-1094, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33544358
8.
ZMIZ1::ABL1 Fusion: An Uncommon Molecular Event With Clinical Implications in Pediatric Cancer.
Arch Pathol Lab Med
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38749501
9.
Outcomes in Children, Adolescents, and Young Adults With Down Syndrome and ALL: A Report From the Children's Oncology Group.
J Clin Oncol
; 42(2): 218-227, 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37890117
10.
Expanding the Clinical Utility of Targeted RNA Sequencing Panels beyond Gene Fusions to Complex, Intragenic Structural Rearrangements.
Cancers (Basel)
; 15(17)2023 Sep 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37686670
11.
Dasatinib with intensive chemotherapy in de novo paediatric Philadelphia chromosome-positive acute lymphoblastic leukaemia (CA180-372/COG AALL1122): a single-arm, multicentre, phase 2 trial.
Lancet Haematol
; 10(7): e510-e520, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407142
12.
Janet Davison Rowley, M.D. (19252013).
Am J Hum Genet
; 94(6): 805-8, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25035867
13.
Microarray comparative genomic hybridization and cytogenetic characterization of tissue-specific mosaicism in three patients.
Am J Med Genet A
; 158A(8): 1924-33, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22786685
14.
Inherited and de novo variants extend the etiology of TAOK1-associated neurodevelopmental disorder.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35091509
15.
Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation.
Nat Genet
; 54(2): 170-179, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35115686
16.
The genomic landscape of pediatric acute lymphoblastic leukemia.
Nat Genet
; 54(9): 1376-1389, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36050548
17.
5' ALK Amplification in Neuroblastoma: A Case Report.
Case Rep Oncol
; 14(1): 585-591, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976638
18.
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Cold Spring Harb Mol Case Stud
; 6(3)2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32371413
19.
PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.
Nat Genet
; 51(2): 296-307, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30643249
20.
Chromosomal imbalances in oral squamous cell carcinoma: examination of 31 cell lines and review of the literature.
Oral Oncol
; 44(4): 369-82, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17681875