Detalhe da pesquisa
1.
FOXK1 and FOXK2 regulate aerobic glycolysis.
Nature
; 566(7743): 279-283, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30700909
2.
PatientMatcher: A customizable Python-based open-source tool for matching undiagnosed rare disease patients via the Matchmaker Exchange network.
Hum Mutat
; 43(6): 708-716, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35192731
3.
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
4.
Limitations of field-theory simulation for exploring phase separation: The role of repulsion in a lattice protein model.
J Chem Phys
; 156(1): 015101, 2022 Jan 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34998327
5.
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
6.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
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.
Severe congenital neutropenia-associated JAGN1 mutations unleash a calpain-dependent cell death programme in myeloid cells.
Br J Haematol
; 192(1): 200-211, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33206996
10.
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
11.
Finite-size shifts in simulated protein droplet phase diagrams.
J Chem Phys
; 154(23): 235101, 2021 Jun 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34241264
12.
Step-by-step guide to 3D print motorized rotation mounts for optical applications.
Appl Opt
; 60(13): 3764-3771, 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33983309
13.
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
14.
Massive parallel sequencing in individuals with multiple primary tumours reveals the benefit of re-analysis.
Hered Cancer Clin Pract
; 19(1): 46, 2021 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711244
15.
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
16.
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
17.
Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Hum Mutat
; 41(11): 1979-1998, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906200
18.
How technology is driving the landscape of epilepsy surgery.
Epilepsia
; 61(5): 841-855, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32227349
19.
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1.
J Am Soc Nephrol
; 29(3): 1041-1048, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29242249
20.
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