Detalhe da pesquisa
1.
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
2.
Paediatric genomic testing: Navigating genomic reports for the general paediatrician.
J Paediatr Child Health
; 58(1): 8-15, 2022 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-34427008
3.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
J Paediatr Child Health
; 57(4): 477-483, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33566436
4.
Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.
Hum Mutat
; 41(1): 299-315, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31595648
5.
GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(5): 878-888, 2020 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31949314
6.
Correction: GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.
Genet Med
; 22(4): 822, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-32047287
7.
Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Genet Med
; 20(12): 1564-1574, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29595814
8.
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
Inglês
| MEDLINE | ID: mdl-29215649
9.
Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndrome.
PLoS Genet
; 9(8): e1003746, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24009529
10.
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency.
Brain
; 137(Pt 4): 1030-8, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24566669
11.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Brain
; 137(Pt 2): 366-79, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24334290
12.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med
; 29(7): 1681-1691, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37291213
13.
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
Inglês
| MEDLINE | ID: mdl-35970915
14.
Genetic resiliency associated with dominant lethal TPM1 mutation causing atrial septal defect with high heritability.
Cell Rep Med
; 3(2): 100501, 2022 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-35243414
15.
Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.
Am J Hum Genet
; 83(1): 106-11, 2008 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-18565486
16.
Azoospermia and paternal autosomal ring chromosomes: case report and literature review.
Reprod Biomed Online
; 23(4): 466-70, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21843971
17.
Fatal perinatal mitochondrial cardiac failure caused by recurrent de novo duplications in the ATAD3 locus.
Med
; 2(1): 49-73, 2021 01 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33575671
18.
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.
Clin Epigenetics
; 10(1): 114, 2018 08 30.
Artigo
Inglês
| MEDLINE | ID: mdl-30165906
19.
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.
Nat Genet
; 49(3): 457-464, 2017 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-28092684
20.
Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.
J Paediatr Child Health
; 47(1-2): 64-5, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-20500434