Detalhe da pesquisa
1.
Integration of EpiSign, facial phenotyping, and likelihood ratio interpretation of clinical abnormalities in the re-classification of an ARID1B missense variant.
Am J Med Genet C Semin Med Genet
; 193(3): e32056, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37654076
2.
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Epilepsia
; 64(5): 1351-1367, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36779245
3.
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations.
Genet Med
; 24(9): 1952-1966, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35916866
4.
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.
Hum Mutat
; 41(2): 403-411, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31660661
5.
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children.
Genet Med
; 22(12): 1976-1985, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32719395
6.
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
7.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
8.
Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Am J Med Genet A
; 179(10): 2152-2157, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31321886
9.
The impact of non-invasive prenatal testing on anxiety in women considered at high or low risk for aneuploidy after combined first trimester screening.
Prenat Diagn
; 37(10): 975-982, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28685502
10.
Mutations in ECEL1 cause distal arthrogryposis type 5D.
Am J Hum Genet
; 92(1): 150-6, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23261301
11.
Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder.
Genome Res
; 23(1): 23-33, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23034409
12.
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Mol Genet Metab
; 119(1-2): 83-90, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27370710
13.
A deep intronic SMARCB1 variant associated with schwannomatosis.
Clin Genet
; 97(2): 376-377, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31502250
14.
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome.
J Clin Immunol
; 38(3): 234-236, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29524015
15.
Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta.
Front Endocrinol (Lausanne)
; 14: 1195704, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37305034
16.
Treatment of severe acute necrotizing encephalopathy of childhood with interleukin-6 receptor blockade in the first 24 h as add-on immunotherapy shows favorable long-term outcome at 2 years.
Brain Dev
; 45(7): 401-407, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36967317
17.
Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death.
Nat Med
; 29(1): 180-189, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658419
18.
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
19.
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
NPJ Genom Med
; 6(1): 5, 2021 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33510162
20.
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations.
J Hum Genet
; 55(1): 18-22, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19893582