Detalhe da pesquisa
1.
Bi-allelic LoF NRROS Variants Impairing Active TGF-ß1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Am J Hum Genet
; 106(4): 559-569, 2020 04 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32197075
2.
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
Inglês
| MEDLINE | ID: mdl-34740920
3.
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
J Med Genet
; 59(5): 511-516, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34183358
4.
Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption.
Genet Med
; 24(4): 798-810, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35065883
5.
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
Inglês
| MEDLINE | ID: mdl-32773771
6.
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
J Paediatr Child Health
; 55(11): 1309-1314, 2019 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-30756437
7.
Insights into the genotype-phenotype correlation and molecular function of SLC25A46.
Hum Mutat
; 39(12): 1995-2007, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30178502
8.
Meeting the challenges of implementing rapid genomic testing in acute pediatric care.
Genet Med
; 20(12): 1554-1563, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-29543227
9.
Primary Intestinal Lymphangiectasia as a First Manifestation of Tuberous Sclerosis Complex.
J Pediatr Gastroenterol Nutr
; 65(4): e96, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28614114
10.
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
Inglês
| MEDLINE | ID: mdl-32969205