Detalhe da pesquisa
1.
Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders.
Hum Mol Genet
; 32(12): 2084-2092, 2023 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920481
2.
Macrocephaly and developmental delay caused by missense variants in RAB5C.
Hum Mol Genet
; 32(21): 3063-3077, 2023 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37552066
3.
Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort.
Genet Med
; 26(5): 101076, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38258669
4.
Genomic multidisciplinary teams: A model for navigating genetic mainstreaming and precision medicine.
J Paediatr Child Health
; 60(4-5): 118-124, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38605555
5.
De novo MCM6 variants in neurodevelopmental disorders: a recognizable phenotype related to zinc binding residues.
Hum Genet
; 142(7): 949-964, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198333
6.
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
7.
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
8.
Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.
JAMA
; 323(24): 2503-2511, 2020 06 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
9.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hum Mutat
; 2019 Oct 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31646703
10.
Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.
Am J Hum Genet
; 99(2): 392-406, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27426733
11.
Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.
Genet Med
; 20(10): 1206-1215, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300374
12.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genet Med
; 20(9): 1061-1068, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29215649
13.
A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.
Am J Med Genet A
; 173(8): 2246-2250, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574218
14.
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.
Am J Med Genet A
; 173(7): 1739-1746, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28498505
15.
Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.
J Clin Immunol
; 36(3): 220-34, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26951490
16.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
17.
Frontometaphyseal dysplasia and keloid formation without FLNA mutations.
Am J Med Genet A
; 167(6): 1215-22, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25899317
18.
The Cardiac Genetics Clinic: a model for multidisciplinary genomic medicine.
Med J Aust
; 203(6): 261.e1-6, 2015 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377294
19.
Losartan therapy for cardiac disease in paediatricMarfan syndrome.
J Paediatr Child Health
; 51(9): 927-31, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26333075
20.
Extreme growth failure is a common presentation of ligase IV deficiency.
Hum Mutat
; 35(1): 76-85, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123394