Detalhe da pesquisa
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.
Artigo
em Inglês
| 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.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536866
3.
Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.
Genome Res
; 29(7): 1057-1066, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31160375
4.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181209
5.
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants.
Genet Med
; 24(1): 130-145, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906502
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906196
7.
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
8.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32573669
9.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.
Am J Hum Genet
; 97(2): 302-10, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166480
10.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest
; 134(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38357931
11.
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
Am J Med Genet A
; 161A(12): 3166-75, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24214399
12.
Developmental regression in children: Current and future directions.
Cortex
; 169: 5-17, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37839389
13.
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Nat Med
; 29(7): 1681-1691, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37291213
14.
Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders.
Res Dev Disabil
; 131: 104338, 2022 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36179574
15.
Severe connective tissue laxity including aortic dilatation in Sotos syndrome.
Am J Med Genet A
; 170A(2): 531-535, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26613968
16.
An Activating Variant in CTNNB1 is Associated with a Sclerosing Bone Dysplasia and Adrenocortical Neoplasia.
J Clin Endocrinol Metab
; 105(3)2020 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31970420
17.
Exome sequencing in infants with congenital hearing impairment: a population-based cohort study.
Eur J Hum Genet
; 28(5): 587-596, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31827275
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-32969205
19.
FMR1 mRNA from full mutation alleles is associated with ABC-CFX scores in males with fragile X syndrome.
Sci Rep
; 10(1): 11701, 2020 07 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32678152
20.
Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing.
Eur J Hum Genet
; 27(12): 1821-1826, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31358953