Detalhe da pesquisa
1.
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
J Med Genet
; 61(1): 36-46, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586840
2.
Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Ann Hum Genet
; 86(4): 171-180, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141892
3.
GM3 synthase deficiency in non-Amish patients.
Genet Med
; 24(2): 492-498, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906476
4.
Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused by TSPYL1 variants.
Am J Med Genet A
; 188(12): 3540-3545, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36082874
5.
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Hum Genet
; 139(11): 1381-1390, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-32399599
6.
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis.
Genet Med
; 20(6): 645-654, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29095811
7.
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Am J Med Genet A
; 176(11): 2509-2512, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30244529
8.
Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Eur J Med Genet
; 66(1): 104670, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36414205
9.
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
Eur J Hum Genet
; 30(8): 967-975, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35577939
10.
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Front Cell Dev Biol
; 10: 1021785, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36393831
11.
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network.
Eur J Hum Genet
; 30(5): 567-576, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782754
12.
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Mol Genet Genomic Med
; 9(12): e1836, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716697
13.
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Eur J Hum Genet
; 27(10): 1519-1531, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31231135
14.
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests.
Eur J Hum Genet
; 27(8): 1197-1214, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31019283
15.
Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Eur J Med Genet
; 60(11): 595-604, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28807864