Detalhe da pesquisa
1.
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
J Med Genet
; 60(12): 1224-1234, 2023 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37586838
2.
Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(7): e1009679, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34324492
3.
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
PLoS Genet
; 17(9): e1009809, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34547032
4.
A cross-country comparison of pregnant women's decision-making and perspectives when opting for non-invasive prenatal testing in the Netherlands and Belgium.
Prenat Diagn
; 43(3): 294-303, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36740754
5.
Fetal-onset Alexander disease with radiological-neuropathological correlation.
Pediatr Radiol
; 53(10): 2149-2153, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37455276
6.
Objective evaluation of facial features in Congolese newborns by facial measurements. The need for population-specific measurements.
Am J Med Genet A
; 188(10): 3063-3070, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35986581
7.
PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.
Am J Med Genet A
; 188(9): 2825-2831, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670385
8.
Prenatal and pre-implantation genetic diagnosis.
Nat Rev Genet
; 17(10): 643-56, 2016 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27629932
9.
What should we tell parents? Congenital diaphragmatic hernia.
Prenat Diagn
; 42(3): 398-407, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33599313
10.
DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo.
J Clin Lab Anal
; 36(5): e24398, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35405024
11.
Value of DNA testing in the diagnosis of sickle-cell anemia in childhood in an environment with a high prevalence of other causes of anemia.
J Clin Lab Anal
; 36(8): e24593, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819088
12.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564150
13.
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genet Med
; 23(2): 352-362, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106617
14.
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clin Genet
; 99(2): 318-324, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33169370
15.
Dysmorphism and major anomalies are a main predictor of survival in newborns admitted to the neonatal intensive care unit in the Democratic Republic of Congo.
Am J Med Genet A
; 185(2): 453-460, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33247552
16.
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa).
Am J Med Genet A
; 185(3): 990-994, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33372375
17.
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of Fallot.
Circ Res
; 124(4): 553-563, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582441
18.
The clinical relevance of intragenic NRXN1 deletions.
J Med Genet
; 57(5): 347-355, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31932357
19.
Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings.
PLoS Genet
; 14(1): e1007138, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29357359
20.
Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series.
Cleft Palate Craniofac J
; 58(4): 505-513, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33063524