Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genet Med
; 24(11): 2351-2366, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083290
6.
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Mol Vis
; 28: 257-268, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36284667
7.
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Am J Hum Genet
; 102(1): 69-87, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29290338
8.
New Pathogenic Mutations Associated with Diacylglycerol O-Acyltransferase 1 Deficiency.
J Pediatr
; 233: 268-272, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33607125
9.
Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants.
Am J Med Genet A
; 185(2): 434-439, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33231930
10.
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
11.
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
12.
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
13.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
14.
Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy.
Mol Vis
; 24: 478-484, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30090012
15.
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Hum Mutat
; 37(9): 955-63, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27323706
16.
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
Hum Mutat
; 37(7): 695-702, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038415
17.
A de novo missense variant in MED13 in a patient with global developmental delay, marked facial dysmorphism, macroglossia, short stature, and macrocephaly.
Am J Med Genet A
; 185(8): 2586-2592, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931951
18.
Recurrent chronic histiocytic intervillositis with intrauterine growth restriction, osteopenia, and fractures.
Am J Med Genet A
; 170(11): 2960-2964, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27481052
19.
High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.
Hum Mutat
; 36(11): 1052-63, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26178382
20.
Novel de novo 2q14.3 deletion disrupting CNTNAP5 in a girl with intellectual impairment, thin corpus callosum, and microcephaly.
Am J Med Genet A
; 182(7): 1824-1828, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32329157