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.
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics.
J Med Genet
; 59(5): 445-452, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085946
3.
Exome sequencing allows detection of relevant pharmacogenetic variants in epileptic patients.
Pharmacogenomics J
; 22(5-6): 258-263, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35590072
4.
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genet Med
; 23(10): 1901-1911, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34113008
5.
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
6.
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
7.
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.
Genet Med
; 21(11): 2504-2511, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036916
8.
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
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.
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
11.
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 52(3): 353, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034319
12.
Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(11): 1660, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31611689
13.
Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.
Nat Genet
; 51(10): 1438-1441, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31570889