Detalhe da pesquisa
1.
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
2.
Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency.
J Allergy Clin Immunol
; 148(2): 381-393, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33872655
3.
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
4.
Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Genet Med
; 21(3): 608-612, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961766
5.
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain-of-function variant: Initial experience.
Am J Med Genet A
; 179(8): 1585-1590, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31175705
6.
Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy.
Hum Mol Genet
; 25(14): 3042-3054, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27270415
7.
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
8.
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis.
Eur J Hum Genet
; 30(10): 1121-1131, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970915
9.
Clinically Responsive Genomic Analysis Pipelines: Elements to Improve Detection Rate and Efficiency.
J Mol Diagn
; 23(7): 894-905, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33962052
10.
Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.
Genes Chromosomes Cancer
; 48(7): 533-8, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19373776
11.
Prenatal and postnatal presentation of severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) due to the FGFR3 Lys650Met mutation.
Am J Med Genet A
; 146A(2): 212-8, 2008 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18076102
12.
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
J Med Genet
; 44(6): 368-72, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17259292
13.
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness.
Mol Genet Genomic Med
; 6(2): 186-199, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29314763
14.
Pfeiffer syndrome with neonatal death secondary to tracheal obstruction owing to the FGFR2 Glu565Ala mutation.
Clin Dysmorphol
; 17(3): 223-224, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18541976
15.
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
J Craniofac Surg
; 18(2): 312-4, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17414280
16.
A case of Beare-Stevenson syndrome with a broad spectrum of features and a review of the FGFR2 Y375C mutation phenotype.
Clin Dysmorphol
; 15(2): 89-93, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16531735