Detalhe da pesquisa
1.
A polygenic risk score to help discriminate primary adrenal insufficiency of different etiologies.
J Intern Med
; 294(1): 96-109, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151110
2.
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63.
Am J Med Genet A
; 191(7): 1929-1934, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37017437
3.
Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy.
Am J Med Genet A
; 191(2): 378-390, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36349425
4.
Multi-omics analysis reveals multiple mechanisms causing Prader-Willi like syndrome in a family with a X;15 translocation.
Hum Mutat
; 43(11): 1567-1575, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35842787
5.
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Genet Med
; 24(11): 2296-2307, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36066546
6.
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements.
PLoS Genet
; 15(2): e1007858, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30735495
7.
Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier.
Hum Genet
; 140(5): 775-790, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315133
8.
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
J Hum Genet
; 66(10): 995-1008, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33875766
9.
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
PLoS Genet
; 14(11): e1007780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30419018
10.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat
; 41(11): 1979-1998, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906200
11.
Whole-genome sequencing reveals complex chromosome rearrangement disrupting NIPBL in infant with Cornelia de Lange syndrome.
Am J Med Genet A
; 182(5): 1143-1151, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32125084
12.
Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
Hum Mutat
; 39(4): 495-505, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29285825
13.
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias.
Hum Mutat
; 39(10): 1456-1467, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30080953
14.
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Hum Mutat
; 38(2): 180-192, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27862604
15.
Further evidence for specific IFIH1 mutation as a cause of Singleton-Merten syndrome with phenotypic heterogeneity.
Am J Med Genet A
; 173(5): 1396-1399, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28319323
16.
Inverse internal conversion in C4(-) below the electron detachment threshold.
Phys Chem Chem Phys
; 17(38): 24732-7, 2015 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26235429
17.
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
J Med Genet
; 51(1): 45-54, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24203977
18.
Fish tissue conversion factors for mercury, cadmium, lead and nine per- and polyfluoroalkyl substances for use within contaminant monitoring.
Sci Total Environ
; 858(Pt 1): 159740, 2023 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36461579
19.
The cost-effectiveness of whole genome sequencing in neurodevelopmental disorders.
Sci Rep
; 13(1): 6904, 2023 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37106068
20.
Polymicrogyria: epidemiology, imaging, and clinical aspects in a population-based cohort.
Brain Commun
; 5(4): fcad213, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37614989