Detalhe da pesquisa
1.
Chromosome-level organization of the regulatory genome in the Drosophila nervous system.
Cell
; 186(18): 3826-3844.e26, 2023 08 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-37536338
2.
Mechanopathology of biofilm-like Mycobacterium tuberculosis cords.
Cell
; 186(23): 5135-5150.e28, 2023 11 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37865090
3.
DNA modifications impact natural transformation of Acinetobacter baumannii.
Nucleic Acids Res
; 51(11): 5661-5677, 2023 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37178001
4.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33961779
5.
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Am J Hum Genet
; 108(2): 346-356, 2021 02 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33513338
6.
SPICA: Swiss portal for immune cell analysis.
Nucleic Acids Res
; 50(D1): D1109-D1114, 2022 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34747477
7.
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.
Hum Mol Genet
; 30(19): 1785-1796, 2021 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-34059922
8.
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100900, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226891
9.
Soil protist function varies with elevation in the Swiss Alps.
Environ Microbiol
; 24(4): 1689-1702, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34347350
10.
Unexpected post-glacial colonisation route explains the white colour of barn owls (Tyto alba) from the British Isles.
Mol Ecol
; 31(2): 482-497, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695244
11.
Genomic consequences of colonisation, migration and genetic drift in barn owl insular populations of the eastern Mediterranean.
Mol Ecol
; 31(5): 1375-1388, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34894026
12.
Anti-adipogenic signals at the onset of obesity-related inflammation in white adipose tissue.
Cell Mol Life Sci
; 78(1): 227-247, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32157317
13.
Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.
J Med Genet
; 58(12): 815-831, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33172956
14.
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Am J Hum Genet
; 102(1): 116-132, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290337
15.
PamgeneAnalyzeR: open and reproducible pipeline for kinase profiling.
Bioinformatics
; 36(20): 5117-5119, 2020 12 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31922550
16.
A systems genetics resource and analysis of sleep regulation in the mouse.
PLoS Biol
; 16(8): e2005750, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30091978
17.
Differential regulation of RNA polymerase III genes during liver regeneration.
Nucleic Acids Res
; 47(4): 1786-1796, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30597109
18.
Greater topoclimatic control of above- versus below-ground communities.
Glob Chang Biol
; 26(12): 6715-6728, 2020 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-32866994
19.
GNB5 Mutations Cause an Autosomal-Recessive Multisystem Syndrome with Sinus Bradycardia and Cognitive Disability.
Am J Hum Genet
; 99(3): 704-710, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523599
20.
Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases.
Genet Med
; 19(2): 169-175, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27362910