Detalhe da pesquisa
1.
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Hum Mutat
; 43(12): 2308-2323, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36273432
2.
Identification and Characterization of an Exonic Duplication in PALB2 in a Man with Synchronous Breast and Prostate Cancer.
Int J Mol Sci
; 23(2)2022 Jan 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35054852
3.
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
BMC Genomics
; 21(1): 86, 2020 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31992191
4.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(15): 7913-7923, 2018 09 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29750258
5.
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 48(3): 1600-1601, 2020 02 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31863589
6.
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Nucleic Acids Res
; 46(21): 11656-11657, 2018 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30321405
7.
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.
Hum Mutat
; 35(3): 356-67, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24375629
8.
Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.
Am J Med Genet A
; 164A(8): 2025-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24715584
9.
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Epilepsia
; 55(2): 370-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372385
10.
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
J Med Genet
; 50(3): 144-50, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315544
11.
Male breast cancer: No evidence for mosaic BRCA1 promoter methylation involvement.
Breast
; 73: 103620, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38096711
12.
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Epilepsia
; 54(9): e117-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758435
13.
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
Epilepsia
; 54(5): e74-80, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23409955
14.
Overview of the Genetic Causes of Hereditary Breast and Ovarian Cancer Syndrome in a Large French Patient Cohort.
Cancers (Basel)
; 15(13)2023 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37444530
15.
An 800 kb deletion at 17q23.2 including the MED13 (THRAP1) gene, revealed by aCGH in a patient with a SMC 17p.
Am J Med Genet A
; 158A(2): 400-5, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22162340
16.
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Epilepsia
; 53(9): 1526-38, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22738016
17.
Identification and Characterization of New Alu Element Insertion in the BRCA1 Exon 14 Associated with Hereditary Breast and Ovarian Cancer.
Genes (Basel)
; 12(11)2021 10 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828342
18.
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Cancers (Basel)
; 13(15)2021 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34359559
19.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia
; 51(9): 1691-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20738377
20.
Skipping Nonsense to Maintain Function: The Paradigm of BRCA2 Exon 12.
Cancer Res
; 80(7): 1374-1386, 2020 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32046981