Detalhe da pesquisa
1.
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
Am J Hum Genet
; 111(3): 487-508, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38325380
2.
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation.
Am J Hum Genet
; 108(6): 1126-1137, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34010604
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
em Inglês
| MEDLINE | ID: mdl-38258669
4.
Klinefelter Syndrome: What should we tell prospective parents?
Prenat Diagn
; 43(2): 240-249, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36225116
5.
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
em Inglês
| MEDLINE | ID: mdl-34740920
6.
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Hum Mutat
; 43(12): 1956-1969, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36030538
7.
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
8.
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
J Med Genet
; 58(9): 609-618, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33060286
9.
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects.
Hum Mutat
; 42(5): 506-519, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33565183
10.
Increased nuchal translucency after low-risk noninvasive prenatal testing: What should we tell prospective parents?
Prenat Diagn
; 41(10): 1305-1315, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297420
11.
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients.
Genet Med
; 22(12): 1986-1993, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32773771
12.
Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.
Hum Mutat
; 40(11): 2021-2032, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31184401
13.
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Am J Med Genet C Semin Med Genet
; 181(4): 627-637, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31710781
14.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
15.
Outcomes of children diagnosed antenatally with sex chromosome aneuploidies.
J Paediatr Child Health
; 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38769937
16.
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
Hum Mutat
; 39(1): 103-113, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29024177
17.
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Hum Mutat
; 39(5): 621-634, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29392890
18.
Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively.
Genet Med
; 20(4): 411-419, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28817112
19.
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.
Brain
; 140(6): 1595-1610, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28549128
20.
Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era.
Aust N Z J Obstet Gynaecol
; 58(4): 397-403, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29900540