Detalhe da pesquisa
1.
Mucus sialylation determines intestinal host-commensal homeostasis.
Cell;
185(7): 1172-1188.e28, 2022 03 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35303419
2.
Australian Genomics: Outcomes of a 5-year national program to accelerate the integration of genomics in healthcare.
Am J Hum Genet;
110(3): 419-426, 2023 03 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36868206
3.
Further delineation of dosage-sensitive K/L mediated Xq28 duplication syndrome includes incomplete penetrance.
Clin Genet;
103(6): 681-687, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36688272
4.
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome.
Am J Med Genet A;
191(2): 357-369, 2023 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36349505
5.
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Am J Med Genet A;
191(8): 2113-2131, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37377026
6.
A ubiquitin-dependent signalling axis specific for ALKBH-mediated DNA dealkylation repair.
Nature;
551(7680): 389-393, 2017 11 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29144457
7.
Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS).
J Med Genet;
59(7): 706-709, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34321326
8.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med;
24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34906502
9.
Diagnostic accuracy and performance of artificial intelligence in measuring left atrial volumes and function on multiphasic CT in patients with atrial fibrillation.
Eur Radiol;
32(8): 5256-5264, 2022 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35275258
10.
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility.
J Med Genet;
58(12): 853-858, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33168572
11.
Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases.
Proc Natl Acad Sci U S A;
116(3): 970-975, 2019 01 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30591564
12.
Examining a rural Victorian community's knowledge and help seeking behaviour for family violence and the role of the local public health service.
Aust J Rural Health;
30(5): 631-642, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35714269
13.
Rural health service leaders co-design state-wide research addressing an emerging health issue: A case report.
Aust J Rural Health;
30(6): 884-890, 2022 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35975966
14.
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability.
Hum Mutat;
42(7): 835-847, 2021 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33847015
15.
A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation.
Hum Mol Genet;
28(4): 598-614, 2019 02 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30335141
16.
Single-Cell Analyses of Colon and Blood Reveal Distinct Immune Cell Signatures of Ulcerative Colitis and Crohn's Disease.
Gastroenterology;
159(2): 591-608.e10, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32428507
17.
Patient characteristics, care patterns, and outcomes of atrial fibrillation associated hospitalizations in patients with chronic kidney disease and end-stage renal disease.
Am Heart J;
242: 45-60, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34216572
18.
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.
Genet Med;
23(11): 2138-2149, 2021 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34244665
19.
Same-day discharge after catheter ablation in patients with atrial fibrillation in a large nationwide administrative claims database.
J Cardiovasc Electrophysiol;
32(9): 2432-2440, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34324239
20.
Electrical delays in quadripolar leads with cardiac resynchronization therapy.
J Cardiovasc Electrophysiol;
32(9): 2498-2503, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34245479