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1.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-38258669
2.
Diagnostic findings and yield of investigations for children with developmental regression.
Am J Med Genet A
; : e63607, 2024 Mar 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-38536866
3.
PEDOT Films Doped with Titanyl Oxalate as Chemiresistive and Colorimetric Dual-Mode Sensors for the Detection of Hydrogen Peroxide Vapor.
Sensors (Basel)
; 23(6)2023 Mar 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-36991828
4.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31160375
5.
Is faster better? An economic evaluation of rapid and ultra-rapid genomic testing in critically ill infants and children.
Genet Med
; 24(5): 1037-1044, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35181209
6.
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
7.
The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.
Am J Med Genet A
; 188(12): 3432-3447, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36367278
8.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med
; 23(1): 183-191, 2021 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32939031
9.
Impaired social attention detected through eye movements in children with early-onset epilepsy.
Epilepsia
; 62(8): 1921-1930, 2021 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-34142371
10.
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate.
Hum Mutat
; 41(11): 1884-1891, 2020 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-32906196
11.
The changing face of clinical genetics service delivery in the era of genomics: a framework for monitoring service delivery and data from a comprehensive metropolitan general genetics service.
Genet Med
; 22(1): 210-218, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31292527
12.
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
13.
Climatic regulation of the neurotoxin domoic acid.
Proc Natl Acad Sci U S A
; 114(2): 239-244, 2017 01 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28069959
14.
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
15.
EED and EZH2 constitutive variants: A study to expand the Cohen-Gibson syndrome phenotype and contrast it with Weaver syndrome.
Am J Med Genet A
; 179(4): 588-594, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30793471
16.
Analysis of EEG networks and their correlation with cognitive impairment in preschool children with epilepsy.
Epilepsy Behav
; 90: 45-56, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30513434
17.
Neurobehavioral problems in children with early-onset epilepsy: A population-based study.
Epilepsy Behav
; 93: 87-93, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30836323
18.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26166480
19.
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
20.
Cognitive impairment in early onset epilepsy is associated with reduced left thalamic volume.
Epilepsy Behav
; 80: 266-271, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29422396