Detalhe da pesquisa
1.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Am J Hum Genet;
110(1): 105-119, 2023 01 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36493768
2.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry;
28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36117209
3.
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing.
J Peripher Nerv Syst;
2024 Jun 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38860315
4.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet;
107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33058759
5.
Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25.
Ann Neurol;
92(1): 122-137, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35411967
6.
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Int J Mol Sci;
24(4)2023 Feb 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36834994
7.
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
Hum Mutat;
43(12): 1956-1969, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36030538
8.
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14.
Am J Hum Genet;
110(6): 1018, 2023 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37267898
9.
Clinical impact of genomic testing in patients with suspected monogenic kidney disease.
Genet Med;
23(1): 183-191, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32939031
10.
Lymphedema distichiasis syndrome may be caused by FOXC2 promoter-enhancer dissociation and disruption of a topological associated domain.
Am J Med Genet A;
185(1): 150-156, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33107170
11.
Paediatric genomic testing: Navigating medicare rebatable genomic testing.
J Paediatr Child Health;
57(4): 477-483, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33566436
12.
Cryopyrin-associated periodic syndrome: a treatable genetic inflammatory condition.
Pract Neurol;
21(5): 424-426, 2021 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34112663
13.
Rapid Diagnosis of Spinocerebellar Ataxia 36 in a Three-Generation Family Using Short-Read Whole-Genome Sequencing Data.
Mov Disord;
35(9): 1675-1679, 2020 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32407596
14.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Brain;
142(9): 2617-2630, 2019 09 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31327001
15.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry;
28(4): 1664-1666, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36658335
16.
A novel approach to offering additional genomic findings-A protocol to test a two-step approach in the healthcare system.
J Genet Couns;
28(2): 388-397, 2019 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30776170
17.
A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.
Genet Med;
20(9): 1061-1068, 2018 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29215649
18.
Any symptom, in any organ, at any age: A case report of multiple genetic diagnoses mimicking mitochondrial disease in an adult with kidney disease.
Nephrology (Carlton);
27(7): 640-641, 2022 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35128751
19.
Dual genetic diagnoses: Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1.
Am J Med Genet A;
170(3): 717-24, 2016 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26590955
20.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
JCO Precis Oncol;
8: e2300453, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38412388