Detalhe da pesquisa
1.
De novo missense variants in FBXO11 alter its protein expression and subcellular localization.
Hum Mol Genet
; 31(3): 440-454, 2022 02 03.
Artigo
Inglês
| MEDLINE | ID: mdl-34505148
2.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
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
Inglês
| MEDLINE | ID: mdl-38258669
4.
De novo enhancer deletion of LMX1B produces a mild nail-patella clinical phenotype.
Clin Genet
; 105(2): 214-219, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37899549
5.
NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet
; 107(5): 963-976, 2020 11 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33157009
6.
Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
J Med Genet
; 59(8): 748-758, 2022 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34740920
7.
A family study implicates GBE1 in the etiology of autism spectrum disorder.
Hum Mutat
; 43(1): 16-29, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34633740
8.
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Hum Mutat
; 43(12): 1956-1969, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36030538
9.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34906502
10.
Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.
Genet Med
; 24(6): 1283-1296, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35346573
11.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
Inglês
| MEDLINE | ID: mdl-35055180
12.
Genome sequencing in congenital cataracts improves diagnostic yield.
Hum Mutat
; 42(9): 1173-1183, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34101287
13.
Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants.
Am Heart J
; 225: 108-119, 2020 07.
Artigo
Inglês
| MEDLINE | ID: mdl-32480058
14.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain
; 142(9): 2617-2630, 2019 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31327001
15.
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
Inglês
| MEDLINE | ID: mdl-32573669
16.
Tracing Autism Traits in Large Multiplex Families to Identify Endophenotypes of the Broader Autism Phenotype.
Int J Mol Sci
; 21(21)2020 Oct 27.
Artigo
Inglês
| MEDLINE | ID: mdl-33120939
17.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns
; 28(2): 388-397, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30776170
18.
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Brain
; 139(Pt 3): 765-81, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26917586
19.
SNP microarray abnormalities in a cohort of 28 infants with congenital diaphragmatic hernia.
Am J Med Genet A
; 167A(10): 2319-26, 2015 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-26059276
20.
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Am J Med Genet A
; 164A(1): 77-86, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24352913