Detalhe da pesquisa
1.
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Hum Genet
; 143(1): 71-84, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38117302
2.
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.
Clin Genet
; 103(4): 484-491, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576126
3.
Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents.
J Pediatr Hematol Oncol
; 45(2): e244-e248, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35537032
4.
Adenoma and colorectal cancer risks in Lynch syndrome, Lynch-like syndrome and familial colorectal cancer type X.
Int J Cancer
; 150(1): 56-66, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469588
5.
Acute myeloid leukemia-induced functional inhibition of healthy CD34+ hematopoietic stem and progenitor cells.
Stem Cells
; 39(9): 1270-1284, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34013984
6.
QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum.
Clin Genet
; 99(1): 199-207, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33009816
7.
A low-frequency haplotype spanning SLX4/FANCP constitutes a new risk locus for early-onset breast cancer (<60 years) and is associated with reduced DNA repair capacity.
Int J Cancer
; 142(4): 757-768, 2018 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29044504
8.
Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.
Hum Mol Genet
; 25(11): 2256-2268, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27008870
9.
Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1.
Am J Hum Genet
; 96(1): 5-20, 2015 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-25529635
10.
Circulating free DNA integrity and concentration as independent prognostic markers in metastatic breast cancer.
Breast Cancer Res Treat
; 169(1): 69-82, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29340881
11.
Plasma miR-122 and miR-200 family are prognostic markers in colorectal cancer.
Int J Cancer
; 140(1): 176-187, 2017 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632639
12.
FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.
Hum Mol Genet
; 24(18): 5345-55, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130695
13.
Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk.
Hum Mol Genet
; 24(1): 285-98, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168388
14.
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child.
Hum Mutat
; 37(3): 257-68, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615982
15.
Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Gut
; 64(11): 1774-82, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25248455
16.
The GPRC5A frameshift variant c.183del is not associated with increased breast cancer risk in BRCA1 mutation carriers.
Int J Cancer
; 144(7): 1761-1763, 2019 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30474284
17.
Plasma DNA integrity as a biomarker for primary and metastatic breast cancer and potential marker for early diagnosis.
Breast Cancer Res Treat
; 146(1): 163-74, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24838941
18.
Clinical and molecular characterization of the BRCA2 p.Asn3124Ile variant reveals substantial evidence for pathogenic significance.
Breast Cancer Res Treat
; 145(2): 451-60, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24728577
19.
Capture and Amplification by Tailing and Switching (CATS). An ultrasensitive ligation-independent method for generation of DNA libraries for deep sequencing from picogram amounts of DNA and RNA.
RNA Biol
; 11(7): 817-28, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24922482
20.
FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.
Genes (Basel)
; 14(3)2023 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36980996