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.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
Hum Mutat
; 41(12): 2028-2057, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906214
3.
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
Nucleic Acids Res
; 45(D1): D698-D706, 2017 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27899581
4.
MSeqDR mvTool: A mitochondrial DNA Web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion.
Hum Mutat
; 39(6): 806-810, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29539190
5.
Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.
Am J Med Genet A
; 173(5): 1390-1395, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28371217
6.
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.
Hum Mutat
; 37(6): 540-548, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26919060
7.
Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier.
Bioinformatics
; 31(8): 1310-2, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25505086
8.
Bone marrow transcriptome and epigenome profiles of equine common variable immunodeficiency patients unveil block of B lymphocyte differentiation.
Clin Immunol
; 160(2): 261-76, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25988861
9.
Mitochondrial Disease Sequence Data Resource (MSeqDR): a global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.
Mol Genet Metab
; 114(3): 388-96, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25542617
10.
A-MYB (MYBL1) transcription factor is a master regulator of male meiosis.
Development
; 138(15): 3319-30, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21750041
11.
MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.
Curr Protoc
; 4(1): e955, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38284225
12.
Significance Associated with Phenotype Score Aids in Variant Prioritization for Exome Sequencing Analysis.
J Mol Diagn
; 26(5): 337-348, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38360210
13.
A genome-wide association study identifies novel risk loci for type 2 diabetes.
Nature
; 445(7130): 881-5, 2007 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-17293876
14.
Resilience to autosomal dominant Alzheimer's disease in a Reelin-COLBOS heterozygous man.
Nat Med
; 29(5): 1243-1252, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37188781
15.
Aqueous Humor as a Liquid Biopsy for Retinoblastoma: Clear Corneal Paracentesis and Genomic Analysis.
J Vis Exp
; (175)2021 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570090
16.
Multidrug-resistant Pseudomonas aeruginosa in healthcare facilities in Port-au-Prince, Haiti.
J Glob Antimicrob Resist
; 25: 60-65, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33662645
17.
Rapidly emerging SARS-CoV-2 B.1.1.7 sub-lineage in the United States of America with spike protein D178H and membrane protein V70L mutations.
Emerg Microbes Infect
; 10(1): 1293-1299, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34125658
18.
Emerging variants of concern in SARS-CoV-2 membrane protein: a highly conserved target with potential pathological and therapeutic implications.
Emerg Microbes Infect
; 10(1): 885-893, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-33896413
19.
Inter-eye genomic heterogeneity in bilateral retinoblastoma via aqueous humor liquid biopsy.
NPJ Precis Oncol
; 5(1): 73, 2021 Jul 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-34316014
20.
Early pandemic molecular diversity of SARS-CoV-2 in children.
medRxiv
; 2021 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-33619507