Detalhe da pesquisa
1.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Hum Mol Genet
; 28(2): 290-306, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30304514
2.
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Genet Med
; 20(4): 435-443, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28771251
3.
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.
Hum Mutat
; 37(7): 703-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27071356
4.
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome.
BMC Genomics
; 16 Suppl 1: S12, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923536
5.
Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Am J Med Genet A
; 167A(11): 2544-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26097063
6.
The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care.
Hum Mutat
; 35(5): 513-9, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599881
7.
High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.
Hum Genet
; 133(3): 321-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24154661
8.
Does extensive genotyping and nasal potential difference testing clarify the diagnosis of cystic fibrosis among patients with single-organ manifestations of cystic fibrosis?
Thorax
; 69(3): 254-60, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24149827
9.
Identification of deleterious synonymous variants in human genomes.
Bioinformatics
; 29(15): 1843-50, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23736532
10.
Genetic, cell biological, and clinical interrogation of the CFTR mutation c.3700 A>G (p.Ile1234Val) informs strategies for future medical intervention.
Genet Med
; 16(8): 625-32, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24556927
11.
PhenoTips: patient phenotyping software for clinical and research use.
Hum Mutat
; 34(8): 1057-65, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23636887
12.
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
Hum Genet
; 132(11): 1245-52, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23812740
13.
A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes.
Am J Hum Genet
; 87(5): 631-42, 2010 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-21056402
14.
Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.
Am J Med Genet A
; 161A(1): 13-20, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23239666
15.
Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism.
Mov Disord
; 32(12): 1792-1794, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29082553
16.
Brain abnormalities in patients with Beckwith-Wiedemann syndrome.
Am J Med Genet A
; 158A(6): 1388-94, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22585446
17.
Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.
Muscle Nerve
; 45(5): 752-5, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22499106
18.
Identification of deleterious synonymous variants in human genomes.
Bioinformatics
; 31(5): 799, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25488928
19.
A population-based study of dystrophin mutations in Canada.
Can J Neurol Sci
; 38(3): 465-74, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21515508
20.
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
Am J Med Genet A
; 152A(7): 1808-11, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583174