Detalhe da pesquisa
1.
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Hum Mol Genet;
32(7): 1127-1136, 2023 03 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36322148
2.
Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation.
Am J Hum Genet;
109(11): 1960-1973, 2022 11 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36332611
3.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet;
106(1): 13-26, 2024 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38685133
4.
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
Cerebellum;
23(1): 268-277, 2024 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36696030
5.
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.
Brain;
145(11): 3985-3998, 2022 11 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34957489
6.
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly.
Am J Hum Genet;
105(3): 573-587, 2019 09 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31447096
7.
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
8.
A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia-Support for the role of LAP1 in NMJ function and disease.
Neuropathol Appl Neurobiol;
48(1): e12743, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34164833
9.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Neuropathol Appl Neurobiol;
48(7): e12846, 2022 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35962550
10.
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.
J Med Genet;
58(9): 609-618, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33060286
11.
Retrospective analysis of mortality within 30 days of systemic anticancer therapy and comparison with a previous audit at an Australian Regional Cancer Centre.
J Oncol Pharm Pract;
28(5): 1077-1084, 2022 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33990165
12.
Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2.
Am J Hum Genet;
102(3): 505-514, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29499166
13.
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families.
Brain;
143(10): 2904-2910, 2020 10 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33103729
14.
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
15.
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
16.
High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.
BMC Ophthalmol;
20(1): 68, 2020 Feb 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32093627
17.
New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Semin Cell Dev Biol;
64: 160-170, 2017 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27519468
18.
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive TNNT3 splice variant.
Hum Mutat;
39(3): 383-388, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29266598
19.
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.
Hum Mutat;
39(12): 1980-1994, 2018 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30168660
20.
TOR1A variants cause a severe arthrogryposis with developmental delay, strabismus and tremor.
Brain;
140(11): 2851-2859, 2017 11 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29053766