Detalhe da pesquisa
1.
A Prox1 enhancer represses haematopoiesis in the lymphatic vasculature.
Nature
; 614(7947): 343-348, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36697821
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.
IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation.
Blood
; 143(18): 1873-1877, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38457663
4.
Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.
Blood
; 141(13): 1533-1543, 2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36626254
5.
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma.
Blood
; 141(11): 1293-1307, 2023 03 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35977101
6.
ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.
Nucleic Acids Res
; 50(11): 6343-6367, 2022 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687106
7.
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Aust N Z J Obstet Gynaecol
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38577897
8.
Impact of additional genetic abnormalities at diagnosis of chronic myeloid leukemia for first-line imatinib-treated patients receiving proactive treatment intervention.
Haematologica
; 108(9): 2380-2395, 2023 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36951160
9.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34183358
10.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
11.
Secondary leukemia in patients with germline transcription factor mutations (RUNX1, GATA2, CEBPA).
Blood
; 136(1): 24-35, 2020 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430494
12.
A network-biology perspective of microRNA function and dysfunction in cancer.
Nat Rev Genet
; 17(12): 719-732, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27795564
13.
The clinical and genetic features of hereditary pancreatitis in South Australia.
Med J Aust
; 216(11): 578-582, 2022 06 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35578795
14.
GATA2 deficiency syndrome: A decade of discovery.
Hum Mutat
; 42(11): 1399-1421, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34387894
15.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31988067
16.
Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.
BMC Med Genet
; 21(1): 35, 2020 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32066420
17.
Integrative genomic analysis reveals cancer-associated mutations at diagnosis of CML in patients with high-risk disease.
Blood
; 132(9): 948-961, 2018 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29967129
18.
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1-related syndrome.
Am J Med Genet A
; 182(5): 1273-1277, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32141698
19.
A putative role for the aryl hydrocarbon receptor (AHR) gene in a patient with cyclical Cushing's disease.
BMC Endocr Disord
; 20(1): 18, 2020 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996203
20.
Gene and protein expression profiles of JAK-STAT signalling pathway in the developing brain of the Ts1Cje down syndrome mouse model.
Int J Neurosci
; 129(9): 871-881, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30775947