Detalhe da pesquisa
1.
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
2.
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
3.
Genomic profile - a possible diagnostic and prognostic marker in upper tract urothelial carcinoma.
BJU Int
; 130(1): 92-101, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375486
4.
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
5.
Chromatin interactions in differentiating keratinocytes reveal novel atopic dermatitis- and psoriasis-associated genes.
J Allergy Clin Immunol
; 147(5): 1742-1752, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33069716
6.
Multi-Omic Investigations of a 17-19 Translocation Links MINK1 Disruption to Autism, Epilepsy and Osteoporosis.
Int J Mol Sci
; 23(16)2022 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012658
7.
Discovery of Novel Sequences in 1,000 Swedish Genomes.
Mol Biol Evol
; 37(1): 18-30, 2020 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31560401
8.
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
9.
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
10.
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome.
Am J Med Genet A
; 185(12): 3593-3600, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33048444
11.
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
12.
pyCancerSig: subclassifying human cancer with comprehensive single nucleotide, structural and microsatellite mutational signature deconstruction from whole genome sequencing.
BMC Bioinformatics
; 21(1): 128, 2020 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32245405
13.
Loqusdb: added value of an observations database of local genomic variation.
BMC Bioinformatics
; 21(1): 273, 2020 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32611382
14.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat
; 41(11): 1979-1998, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906200
15.
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
BMC Med Genet
; 21(1): 87, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32357925
16.
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
17.
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
18.
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
19.
Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.
Sci Rep
; 14(1): 9000, 2024 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-38637641
20.
Rare coding variants in NOX4 link high ROS levels to psoriatic arthritis mutilans.
EMBO Mol Med
; 16(3): 596-615, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38379095