Detalhe da pesquisa
1.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet
; 109(11): 1960-1973, 2022 11 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36332611
2.
GATA2 deficiency syndrome: A decade of discovery.
Hum Mutat
; 42(11): 1399-1421, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34387894
3.
Pseudodiastrophic dysplasia expands the known phenotypic spectrum of defects in proteoglycan biosynthesis.
J Med Genet
; 57(7): 454-460, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31988067
4.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32719395
5.
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
Inglês
| MEDLINE | ID: mdl-32141698
6.
The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.
Haematologica
; 106(11): 3004-3007, 2021 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34233450
7.
Glycoengineered keratinocyte library reveals essential functions of specific glycans for all stages of HSV-1 infection.
Nat Commun
; 14(1): 7000, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37919266
8.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36658419
9.
Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.
Blood Adv
; 7(20): 6092-6107, 2023 10 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37406166
10.
Global functions of O-glycosylation: promises and challenges in O-glycobiology.
FEBS J
; 288(24): 7183-7212, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34346177
11.
Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.
BMC Med Genomics
; 14(1): 64, 2021 02 27.
Artigo
Inglês
| MEDLINE | ID: mdl-33639934
12.
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood Adv
; 4(6): 1131-1144, 2020 03 24.
Artigo
Inglês
| MEDLINE | ID: mdl-32208489
13.
Author Correction: Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 30(1): 302, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37429925
14.
Clonal hematopoiesis in patients with ANKRD26 or ETV6 germline mutations.
Blood Adv
; 6(15): 4357-4359, 2022 08 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35537115