Detalhe da pesquisa
1.
The AnnotSV webserver in 2023: updated visualization and ranking.
Nucleic Acids Res
; 51(W1): W39-W45, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37216590
2.
Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A
; 194(4): e63476, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37974505
3.
Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.
Am J Med Genet A
; 191(1): 52-63, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36196855
4.
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
Nucleic Acids Res
; 49(W1): W21-W28, 2021 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34023905
5.
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Int J Mol Sci
; 24(10)2023 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37240074
6.
Targeted next-generation sequencing in a large series of fetuses with severe renal diseases.
Hum Mutat
; 43(3): 347-361, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35005812
7.
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
8.
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum Mutat
; 41(1): 240-254, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31549751
9.
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Hum Mutat
; 41(12): 2167-2178, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33131162
10.
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.
Clin Genet
; 98(2): 166-171, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32361989
11.
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat
; 40(10): 1826-1840, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116475
12.
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
Brain
; 141(11): 3160-3178, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351409
13.
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat
; 39(7): 983-992, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29688594
14.
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Am J Hum Genet
; 96(4): 666-74, 2015 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-25817018
15.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
16.
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Acta Neuropathol
; 134(6): 889-904, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685322
17.
Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature.
Am J Med Genet A
; 173(2): 479-486, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27623003
18.
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
J Hum Genet
; 61(5): 447-50, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26763875
19.
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
J Med Genet
; 51(2): 132-6, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24026985
20.
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient.
Acta Derm Venereol
; 98(2): 287-288, 2018 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29057423