Detalhe da pesquisa
1.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
Am J Hum Genet
; 110(4): 551-564, 2023 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36933558
2.
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation.
Am J Hum Genet
; 108(4): 696-708, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33743207
3.
Fumarate hydratase variant prevalence and manifestations among individuals receiving germline testing.
Cancer
; 128(4): 675-684, 2022 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34724198
4.
Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance.
Am J Med Genet A
; 188(9): 2642-2651, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35570716
5.
Frequency of Cystic Fibrosis Transmembrane Conductance Regulator Variants in Individuals Evaluated for Primary Ciliary Dyskinesia.
J Pediatr
; 215: 172-177.e2, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31610925
6.
Expanded Gene Panel Use for Women With Breast Cancer: Identification and Intervention Beyond Breast Cancer Risk.
Ann Surg Oncol
; 24(10): 3060-3066, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28766213
7.
Two cases of localized neuroblastoma with multiple segmental chromosomal alterations and metastatic progression.
Pediatr Blood Cancer
; 60(2): 332-5, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22997192
8.
Fumarate Hydratase Variants and Their Association With Paraganglioma/Pheochromocytoma.
Urology
; 176: 106-114, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36773955
9.
FH Variant Pathogenicity Promotes Purine Salvage Pathway Dependence in Kidney Cancer.
Cancer Discov
; 13(9): 2072-2089, 2023 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37255402
10.
Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing.
JAMA Netw Open
; 6(10): e2339571, 2023 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37878314
11.
Li-Fraumeni versus Pseudo-Li-Fraumeni Syndrome: Key Insights for Interpreting Next-Generation Sequencing Reports in Patients with Suspected Cancer Predisposition Syndromes.
Oncologist
; 22(9): 1084-1085, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592622
12.
SUMO modification regulates BLM and RAD51 interaction at damaged replication forks.
PLoS Biol
; 7(12): e1000252, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19956565
13.
Homologous recombination and maintenance of genome integrity: cancer and aging through the prism of human RecQ helicases.
Mech Ageing Dev
; 129(7-8): 425-40, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18430459
14.
Genetic analyses in a bonobo (Pan paniscus) with arrhythmogenic right ventricular cardiomyopathy.
Sci Rep
; 8(1): 4350, 2018 03 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29531232
15.
The DNA-binding domain of CaNdt80p is required to activate CDR1 involved in drug resistance in Candida albicans.
J Med Microbiol
; 55(Pt 10): 1403-1411, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17005790
16.
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T.
Case Rep Genet
; 2015: 532090, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26798524
17.
BLM SUMOylation regulates ssDNA accumulation at stalled replication forks.
Front Genet
; 4: 167, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24027577
18.
A case of pediatric γ/δ T-cell malignancy with t(8;14)(q24;q11)/MYC-TCR successfully treated with pulse type chemotherapy followed by stem cell transplant.
Leuk Lymphoma
; 54(2): 403-5, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22800289