Detalhe da pesquisa
1.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
2.
Pathogenic variants in KCNQ2 cause intellectual deficiency without epilepsy: Broadening the phenotypic spectrum of a potassium channelopathy.
Am J Med Genet A
; 185(6): 1803-1815, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33754465
3.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Clin Genet
; 97(4): 567-575, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997314
4.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Hum Mutat
; 40(12): 2430-2443, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31379041
5.
Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence.
Cytogenet Genome Res
; 157(3): 141-147, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30947196
6.
2.5 years' experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases.
Genet Med
; 21(7): 1657-1661, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563986
7.
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355961
8.
KIAA1797/FOCAD encodes a novel focal adhesion protein with tumour suppressor function in gliomas.
Brain
; 135(Pt 4): 1027-41, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22427331
9.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Eur J Hum Genet
; 31(7): 761-768, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-36450799
10.
Rare germline variants in POLE and POLD1 encoding the catalytic subunits of DNA polymerases ε and δ in glioma families.
Acta Neuropathol Commun
; 11(1): 184, 2023 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37990341
11.
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Front Genet
; 13: 926290, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36226188
12.
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Genes (Basel)
; 13(11)2022 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36360264
13.
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
J Clin Med
; 9(8)2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32752152
14.
Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23.
Pediatr Nephrol
; 24(9): 1673-81, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19444485
15.
Correction: Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
Eur J Hum Genet
; 2024 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565641
16.
Towards mapping phenotypical traits in 18p- syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation.
Eur J Hum Genet
; 15(1): 35-44, 2007 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17024214
17.
YB-1 provokes breast cancer through the induction of chromosomal instability that emerges from mitotic failure and centrosome amplification.
Cancer Res
; 65(10): 4078-87, 2005 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-15899797
18.
Delineation by molecular cytogenetics of 5q deletion breakpoints in myelodyplastic syndromes and acute myeloid leukemia.
Cancer Genet Cytogenet
; 167(1): 66-9, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16682289
19.
Molecular cytogenetic profiling of complex karyotypes in primary myelodysplastic syndromes and acute myeloid leukemia.
Cancer Genet Cytogenet
; 165(1): 51-63, 2006 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-16490597
20.
Hidden chromosomal aberrations are rare in primary myelodysplastic syndromes with evolution to acute myeloid leukaemia and normal cytogenetics.
Leuk Res
; 28(2): 171-7, 2004 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-14654082