Detalhe da pesquisa
1.
Pathogenic Germline Variants in 10,389 Adult Cancers.
Cell
; 173(2): 355-370.e14, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625052
2.
A brief history of human disease genetics.
Nature
; 577(7789): 179-189, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31915397
3.
The annual ASHG dinner.
Am J Hum Genet
; 109(3): 377-378, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245469
4.
Pediatric cancer incidence among individuals with overgrowth syndromes and overgrowth features: A population-based assessment in seven million children.
Cancer
; 130(3): 467-475, 2024 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788149
5.
Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?
Genet Med
; 26(2): 101033, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38007624
6.
Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel.
Genet Med
; 26(2): 100992, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37800450
7.
Germline pathogenic SMARCA4 variants in neuroblastoma.
J Med Genet
; 60(10): 987-992, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-36813544
8.
Optimising clinical care through CDH1-specific germline variant curation: improvement of clinical assertions and updated curation guidelines.
J Med Genet
; 60(6): 568-575, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36600593
9.
Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle".
J Genet Couns
; 2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225886
10.
Associations between birth defects and childhood and adolescent germ cell tumors according to sex, histologic subtype, and site.
Cancer
; 129(20): 3300-3308, 2023 10 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366624
11.
Clinical Genetics Lacks Standard Definitions and Protocols for the Collection and Use of Diversity Measures.
Am J Hum Genet
; 107(1): 72-82, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32504544
12.
TP53 germline pathogenic variant frequency in anaplastic rhabdomyosarcoma: A Children's Oncology Group report.
Pediatr Blood Cancer
; : e30413, 2023 May 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37194615
13.
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility study.
Pediatr Hematol Oncol
; 40(8): 719-738, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37366551
14.
Genetic Predisposition to Childhood Cancer in the Genomic Era.
Annu Rev Genomics Hum Genet
; 20: 241-263, 2019 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31082280
15.
Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1.
Am J Hum Genet
; 105(3): 625-630, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31303264
16.
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).
Genet Med
; 24(5): 986-998, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35101336
17.
Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
Pediatr Blood Cancer
; 69(11): e29859, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713195
18.
Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.
J Pathol
; 255(1): 52-61, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34086347
19.
FOCAD Indel in a Family With Juvenile Polyposis Syndrome.
J Pediatr Gastroenterol Nutr
; 75(1): 56-58, 2022 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35622075
20.
Molecular profiling predicts meningioma recurrence and reveals loss of DREAM complex repression in aggressive tumors.
Proc Natl Acad Sci U S A
; 116(43): 21715-21726, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591222