Detalhe da pesquisa
1.
Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.
Ann Neurol
; 94(4): 696-712, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37255483
2.
A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.
Hum Mutat
; 43(6): 765-771, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35181961
3.
The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Genet Med
; 24(8): 1732-1742, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35507016
4.
Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Genet Med
; 21(5): 1121-1130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30293986
5.
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls.
Nature
; 464(7289): 713-20, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20360734
6.
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
J Mol Cell Cardiol
; 80: 186-95, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25633834
7.
Genome-wide methylation analyses of primary human leukocyte subsets identifies functionally important cell-type-specific hypomethylated regions.
Blood
; 122(25): e52-60, 2013 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24159175
8.
A genetic study of Wilson's disease in the United Kingdom.
Brain
; 136(Pt 5): 1476-87, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23518715
9.
Determining the characteristics of genetic disorders that predict inclusion in newborn genomic sequencing programs.
medRxiv
; 2024 Apr 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38585998
10.
A framework for the evaluation and reporting of incidental findings in clinical genomic testing.
Eur J Hum Genet
; 32(6): 665-672, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565640
11.
De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.
Eur J Hum Genet
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38565639
12.
Development of a comprehensive cardiovascular disease genetic risk assessment test.
medRxiv
; 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38766118
13.
Target-enrichment strategies for next-generation sequencing.
Nat Methods
; 7(2): 111-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20111037
14.
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
Basic Res Cardiol
; 108(3): 353, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644778
15.
Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.
Cell Genom
; 3(2): 100258, 2023 Feb 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36819666
16.
Exploration of signals of positive selection derived from genotype-based human genome scans using re-sequencing data.
Hum Genet
; 131(5): 665-74, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22057783
17.
Discovery of candidate disease genes in ENU-induced mouse mutants by large-scale sequencing, including a splice-site mutation in nucleoredoxin.
PLoS Genet
; 5(12): e1000759, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20011118
18.
The DNA sequence of the human X chromosome.
Nature
; 434(7031): 325-37, 2005 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-15772651
19.
The association between polymorphisms in RLIP76 and drug response in epilepsy.
Pharmacogenomics
; 8(12): 1715-22, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18086001
20.
Clinical factors and ABCB1 polymorphisms in prediction of antiepileptic drug response: a prospective cohort study.
Lancet Neurol
; 5(8): 668-76, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16857572