Detalhe da pesquisa
1.
Familial transmission of chromoanagenesis leads to unpredictable unbalanced rearrangements through meiotic recombination.
Clin Genet
; 103(4): 401-412, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36576162
2.
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Mol Biol Evol
; 38(12): 5576-5587, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34464971
3.
Complete characterisation of two new large Xq28 duplications involving F8 using whole genome sequencing in patients without haemophilia A.
Haemophilia
; 28(1): 117-124, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34480810
4.
Phenotypic Differences Between Polygenic and Monogenic Hypobetalipoproteinemia.
Arterioscler Thromb Vasc Biol
; 41(1): e63-e71, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207932
5.
Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.
Hum Mutat
; 41(2): 465-475, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31730716
6.
Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.
Clin Genet
; 98(6): 589-594, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33111339
7.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30923172
8.
Identification of mobile retrocopies during genetic testing: Consequences for routine diagnosis.
Hum Mutat
; 40(11): 1993-2000, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31230393
9.
Genome reduction and potential metabolic complementation of the dual endosymbionts in the whitefly Bemisia tabaci.
BMC Genomics
; 16: 226, 2015 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887812
10.
Exome sequencing and pathogenicity-network analysis of five French families implicate mTOR signalling and autophagy in familial sarcoidosis.
Eur Respir J
; 54(2)2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31023854
11.
A new 165-SNP low-density lipoprotein cholesterol polygenic risk score based on next generation sequencing outperforms previously published scores in routine diagnostics of familial hypercholesterolemia.
Transl Res
; 255: 119-127, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36528340
12.
Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients.
Eur J Med Genet
; 65(4): 104458, 2022 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-35189377
13.
Whole Sequencing of Most Prevalent Dilated Cardiomyopathy-Causing Genes as a Molecular Strategy to Improve Molecular Diagnosis Efficiency?
DNA Cell Biol
; 40(3): 491-498, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33493017
14.
A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Eur J Med Genet
; 63(4): 103776, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31562959
15.
Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster.
Eur J Hum Genet
; 28(3): 324-332, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591517
16.
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.
Mol Genet Genomic Med
; 8(3): e1114, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31985172
17.
Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts.
Lancet Rheumatol
; 2(2): e99-e109, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38263665
18.
Supravalvular Aortic Stenosis Caused by a Familial Chromosome 7 Inversion Disrupting the ELN Gene Uncovered by Whole-Genome Sequencing.
Mol Syndromol
; 10(4): 209-213, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31602193
19.
Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
Orphanet J Rare Dis
; 14(1): 121, 2019 05 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31151468
20.
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
BMC Med Genomics
; 11(1): 23, 2018 03 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29510755