Detalhe da pesquisa
1.
GenIA, the Genetic Immunology Advisor database for inborn errors of immunity.
J Allergy Clin Immunol
; 153(3): 831-843, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040041
2.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
3.
Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories.
Int J Mol Sci
; 24(8)2023 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108493
4.
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
5.
Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Genet Med
; 22(4): 803-808, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31767986
6.
Ovarian Clear Cell Carcinoma in Cowden Syndrome.
J Natl Compr Canc Netw
; 17(1): 7-11, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30659124
7.
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation.
Genet Med
; 20(2): 269-274, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771243
8.
[Non-invasive prenatal screening]. / Dépistage prénatal non invasif.
Rev Prat
; 69(2): e55, 2019 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-30983238
9.
[Problems posed by genetic diseases, concerning: chromosomal disorders, trisomy 21; genetic diseases, cystic fibrosis, DNA instability disorders: fragile X syndrome]. / Problèmes posés par les maladies génétiques à propos : d'une maladie chromosomique : la trisomie 21, d'une maladie génique : la mucoviscidose - d'une maladie d'instabilité : le syndrome de l'X fragile.
Rev Prat
; 69(2): e47-e54, 2019 Feb.
Artigo
em Francês
| MEDLINE | ID: mdl-30983237
10.
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Sci Rep
; 14(1): 2330, 2024 01 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38282012
11.
Predominance of BRCA2 Mutation and Estrogen Receptor Positivity in Unselected Breast Cancer with BRCA1 or BRCA2 Mutation.
Cancers (Basel)
; 14(13)2022 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35805038
12.
Rapid exome sequencing in critically ill infants: implementation in routine care from French regional hospital's perspective.
Eur J Hum Genet
; 30(9): 1076-1082, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35729264
13.
Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt.
Eur J Hum Genet
; 30(6): 682-686, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34803161
14.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes (Basel)
; 12(8)2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440373
15.
Clinical and Molecular Spectrum of Nonsyndromic Early-Onset Osteoarthritis.
Arthritis Rheumatol
; 72(10): 1689-1693, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510848
16.
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
BMC Med Genomics
; 12(1): 116, 2019 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31375103
17.
Looking for Broken TAD Boundaries and Changes on DNA Interactions: Clinical Guide to 3D Chromatin Change Analysis in Complex Chromosomal Rearrangements and Chromothripsis.
Methods Mol Biol
; 1769: 353-361, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29564835
18.
Role of the general practitioner in the care of BRCA1 and BRCA2 mutation carriers: General practitioner and patient perspectives.
Mol Genet Genomic Med
; 6(6): 957-965, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30308700
19.
MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.
J Mol Diagn
; 20(4): 465-473, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29689380
20.
A Reliable Targeted Next-Generation Sequencing Strategy for Diagnosis of Myopathies and Muscular Dystrophies, Especially for the Giant Titin and Nebulin Genes.
J Mol Diagn
; 20(4): 533-549, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29792937