Detalhe da pesquisa
1.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
; 182(6): 2683-2692, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36997769
2.
Homozygous damaging SOD2 variant causes lethal neonatal dilated cardiomyopathy.
J Med Genet
; 57(1): 23-30, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31494578
3.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31433103
4.
Naturally Occurring Variants in LRP1 (Low-Density Lipoprotein Receptor-Related Protein 1) Affect HDL (High-Density Lipoprotein) Metabolism Through ABCA1 (ATP-Binding Cassette A1) and SR-B1 (Scavenger Receptor Class B Type 1) in Humans.
Arterioscler Thromb Vasc Biol
; 38(7): 1440-1453, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29853565
5.
Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23.
Hum Mol Genet
; 25(13): 2728-2737, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27260403
6.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med
; 20(11): 1374-1386, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29517769
7.
Genetic Screening Test to Detect Translocations in Acute Leukemias by Use of Targeted Locus Amplification.
Clin Chem
; 64(7): 1096-1103, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29794109
8.
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
Brain
; 140(11): 2860-2878, 2017 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29053796
9.
X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.
Neurogenetics
; 18(4): 185-194, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28842795
10.
A post hoc study on gene panel analysis for the diagnosis of dystonia.
Mov Disord
; 32(4): 569-575, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28186668
11.
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.
Hum Mutat
; 37(5): 457-64, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26864275
12.
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy.
Am J Hum Genet
; 92(6): 946-54, 2013 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-23664116
13.
Mendelian disorders of high-density lipoprotein metabolism.
Circ Res
; 114(1): 124-42, 2014 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24385507
14.
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner.
Cell Mol Life Sci
; 72(17): 3387-99, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25854634
15.
Dystonia in children and adolescents: a systematic review and a new diagnostic algorithm.
J Neurol Neurosurg Psychiatry
; 86(7): 774-81, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25395479
16.
Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy.
Eur Heart J
; 35(32): 2165-73, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24558114
17.
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation.
Mov Disord
; 29(1): 139-43, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24458321
18.
Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics.
Hum Mutat
; 34(7): 1035-42, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23568810
19.
Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23.
Am J Hum Genet
; 87(5): 593-603, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21035104
20.
Successful noninvasive trisomy 18 detection using single molecule sequencing.
Clin Chem
; 59(4): 705-9, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315481