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1.
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.
Am J Hum Genet
; 111(5): 863-876, 2024 May 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-38565148
2.
Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Hum Mol Genet
; 31(4): 614-624, 2022 02 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-34542157
3.
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans.
Hum Mol Genet
; 31(3): 362-375, 2022 02 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34494102
4.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-34653363
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34010604
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-34740920
7.
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Genet Med
; 24(8): 1708-1721, 2022 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-35583550
8.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34906502
9.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-32719395
10.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32573669
11.
Genetic counseling in pediatric acute care: Reflections on ultra-rapid genomic diagnoses in neonates.
J Genet Couns
; 28(2): 273-282, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30663825
12.
Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.
J Genet Couns
; 24(4): 597-607, 2015 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-25348084
13.
"Uninsurable because of a genetic test": a qualitative study of consumer views about the use of genetic test results in Australian life insurance.
Eur J Hum Genet
; 2024 Apr 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-38637700
14.
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders.
medRxiv
; 2024 Apr 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38645094
15.
Comparing saliva and blood for the detection of mosaic genomic abnormalities that cause syndromic intellectual disability.
Eur J Hum Genet
; 31(5): 521-525, 2023 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-36446895
16.
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder.
HGG Adv
; 4(1): 100157, 2023 01 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36408368
17.
Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease.
medRxiv
; 2023 Oct 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-37873196
18.
Receiving Genomic Sequencing Results through the Victorian Undiagnosed Disease Program: Exploring Parental Experiences.
J Pers Med
; 12(8)2022 Jul 29.
Artículo
en Inglés
| MEDLINE | ID: mdl-36013198
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