Detalhe da pesquisa
1.
Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome.
Genes Chromosomes Cancer
; 63(1): e23195, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37548271
2.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33157009
3.
Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group.
J Med Genet
; 59(4): 318-327, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33622763
4.
Speaking genomics to parents offered germline testing for cancer predisposition: Use of a 2-visit consent model.
Cancer
; 125(14): 2455-2464, 2019 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30901077
5.
Atypical teratoid/rhabdoid tumour-TYR subtype arising in the setting of germline ring chromosome 22: An uncommon form of tumour predisposition.
Neuropathol Appl Neurobiol
; 50(2): e12971, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38488196
6.
Germline Mutations in Predisposition Genes in Pediatric Cancer.
N Engl J Med
; 373(24): 2336-2346, 2015 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26580448
7.
Malignant progression of a peripheral nerve sheath tumor in the setting of rhabdoid tumor predisposition syndrome.
Pediatr Blood Cancer
; 65(7): e27030, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29512865
8.
Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia.
PLoS Genet
; 11(6): e1005262, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26102509
9.
Integrating next-generation sequencing into pediatric oncology practice: An assessment of physician confidence and understanding of clinical genomics.
Cancer
; 123(12): 2352-2359, 2017 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28192596
10.
Metachronous T-Lymphoblastic Lymphoma and Burkitt Lymphoma in a Child With Constitutional Mismatch Repair Deficiency Syndrome.
Pediatr Blood Cancer
; 63(8): 1454-6, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27037742
11.
Parathyroid Cancer in the Pediatric Patient.
J Pediatr Hematol Oncol
; 38(1): 32-7, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26650250
12.
Genomes for Nurses: Understanding and Overcoming Barriers to Nurses Utilizing Genomics.
J Pediatr Hematol Oncol Nurs
; 41(2): 140-147, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38347731
13.
Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.
Clin Cancer Res
; 30(11): 2342-2350, 2024 Jun 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38573059
14.
Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management.
Clin Cancer Res
; 29(7): 1243-1251, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36693186
15.
Parental Understanding of Their Child's Germline Genomic Testing: Intent of Disclosure to Their Child and Family.
J Pers Med
; 13(12)2023 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38138883
16.
Parent Quality of Life After Disclosure of Pediatric Oncology Germline Sequencing Results.
JCO Precis Oncol
; 7: e2300159, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37944075
17.
Genomic predictors of response to PD-1 inhibition in children with germline DNA replication repair deficiency.
Nat Med
; 28(1): 125-135, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992263
18.
Creating a cancer genomics curriculum for pediatric hematology-oncology fellows: A national needs assessment.
Cancer Med
; 10(6): 2026-2034, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33624449
19.
Genomes for Kids: The Scope of Pathogenic Mutations in Pediatric Cancer Revealed by Comprehensive DNA and RNA Sequencing.
Cancer Discov
; 11(12): 3008-3027, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34301788
20.
Lung cyst and multinodular thyroid goiter: Keys to DICER1 syndrome diagnosis in a 16-year-old female.
Clin Case Rep
; 8(12): 2373-2376, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33363744