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1.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet
; 109(11): 1960-1973, 2022 11 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-36332611
2.
The cost of proband and trio exome and genome analysis in rare disease: A micro-costing study.
Genet Med
; 26(4): 101058, 2024 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-38164890
3.
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
4.
Evaluating the resource implications of different service delivery models for offering additional genomic findings.
Genet Med
; 23(4): 606-613, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33214711
5.
Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.
Genet Med
; 23(6): 1108-1115, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33568804
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32773771
7.
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
8.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29543227
9.
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Genet Med
; 18(11): 1090-1096, 2016 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-26938784
10.
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Am J Med Genet A
; 170(12): 3327-3332, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27696642
11.
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Am J Med Genet A
; 164A(1): 77-86, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24352913
12.
Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol.
BMJ Open
; 13(6): e072999, 2023 06 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37270192
13.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med
; 29(7): 1681-1691, 2023 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-37291213
14.
A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
Am J Med Genet A
; 173(3): 820-823, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28168832
15.
Ethylmalonic encephalopathy masquerading as meningococcemia.
Cold Spring Harb Mol Case Stud
; 8(2)2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-35165146
16.
Distinct diagnostic trajectories in NBAS-associated acute liver failure highlights the need for timely functional studies.
JIMD Rep
; 63(3): 240-249, 2022 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-35433172
17.
The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective.
J Neurol Sci
; 420: 117260, 2021 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-33310205
18.
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy.
J Am Heart Assoc
; 9(2): e013346, 2020 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-31931689
19.
Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Mol Genet Genomic Med
; 8(11): e1508, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32969205
20.
Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T.
Neurol India
; 57(4): 406-10, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19770540