Detalhe da pesquisa
1.
Genetic mechanisms of critical illness in COVID-19.
Nature
; 591(7848): 92-98, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33307546
2.
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
J Med Genet
; 61(3): 250-261, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38050128
3.
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome.
J Med Genet
; 61(3): 232-238, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37813462
4.
Ancient DNA at the edge of the world: Continental immigration and the persistence of Neolithic male lineages in Bronze Age Orkney.
Proc Natl Acad Sci U S A
; 119(8)2022 02 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-35131896
5.
Whole exome sequencing of low grade serous ovarian carcinoma identifies genomic events associated with clinical outcome.
Gynecol Oncol
; 174: 157-166, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207500
6.
Increased ultra-rare variant load in an isolated Scottish population impacts exonic and regulatory regions.
PLoS Genet
; 15(11): e1008480, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31765389
7.
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
PLoS Genet
; 15(3): e1007605, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30856165
8.
Heterochromatin delays CRISPR-Cas9 mutagenesis but does not influence the outcome of mutagenic DNA repair.
PLoS Biol
; 16(12): e2005595, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30540740
9.
Clinical and molecular characterization of ovarian carcinoma displaying isolated lymph node relapse.
Am J Obstet Gynecol
; 221(3): 245.e1-245.e15, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31055034
10.
Enhanced response rate to pegylated liposomal doxorubicin in high grade serous ovarian carcinomas harbouring BRCA1 and BRCA2 aberrations.
BMC Cancer
; 18(1): 16, 2018 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29298688
11.
Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.
Am J Hum Genet
; 94(2): 295-302, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462371
12.
Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations.
Am J Hum Genet
; 94(6): 915-23, 2014 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24906020
13.
A small-cell lung cancer genome with complex signatures of tobacco exposure.
Nature
; 463(7278): 184-90, 2010 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-20016488
14.
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
J Med Genet
; 51(10): 659-68, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125236
15.
Variant detection sensitivity and biases in whole genome and exome sequencing.
BMC Bioinformatics
; 15: 247, 2014 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25038816
16.
Control of endothelial cell function and arteriogenesis by MEG3:EZH2 epigenetic regulation of integrin expression.
Mol Ther Nucleic Acids
; 35(2): 102173, 2024 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38617973
17.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38662826
18.
Quantifying single nucleotide variant detection sensitivity in exome sequencing.
BMC Bioinformatics
; 14: 195, 2013 Jun 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23773188
19.
Distinct histopathological features are associated with molecular subtypes and outcome in low grade serous ovarian carcinoma.
Sci Rep
; 13(1): 7681, 2023 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37169775
20.
Gorham-Stout case report: a multi-omic analysis reveals recurrent fusions as new potential drivers of the disease.
BMC Med Genomics
; 15(1): 128, 2022 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668402