Detalhe da pesquisa
1.
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
2.
De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.
Hum Mutat
; 43(9): 1299-1313, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35607920
3.
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
4.
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
5.
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
6.
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
em Inglês
| MEDLINE | ID: mdl-31595648
7.
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder.
Mol Psychiatry
; 24(11): 1748-1768, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29728705
8.
Medicare-funded reproductive genetic carrier screening in Australia has arrived: are we ready?
Med J Aust
; 220(8): 394-397, 2024 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38493786
9.
Further delineation of Malan syndrome.
Hum Mutat
; 39(9): 1226-1237, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29897170
10.
Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.
Hum Mutat
; 35(11): 1354-62, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25168334
11.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Hum Mutat
; 35(5): 521-31, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599544
12.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv
; 2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38645094
13.
Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
Am J Med Genet B Neuropsychiatr Genet
; 162B(1): 24-35, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23184456
14.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658419
15.
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.
J Pers Med
; 12(11)2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36579509
16.
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotype.
Am J Med Genet A
; 170A(5): 1363-6, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26754439
17.
Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission").
Eur J Hum Genet
; 29(1): 79-87, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678339
18.
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants.
Eur J Hum Genet
; 29(9): 1405-1417, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33603160
19.
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
BMC Med Genet
; 11: 165, 2010 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21092079
20.
A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family.
Am J Med Genet A
; 149A(4): 633-9, 2009 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-19291767