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.
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
3.
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
4.
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
5.
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
6.
Molecular pathology of familial hypercholesterolemia, related dyslipidemias and therapies beyond the statins.
Crit Rev Clin Lab Sci
; 49(1): 1-17, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22214202
7.
WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase.
Neurol Genet
; 7(1): e554, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33977140
8.
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.
Ann Clin Transl Neurol
; 7(3): 353-362, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32153140
9.
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Atherosclerosis
; 230(2): 249-55, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24075752
10.
Smad2: a candidate gene for the murine autoimmune diabetes locus Idd21.1.
J Clin Endocrinol Metab
; 96(12): E2072-7, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21976717