Detalhe da pesquisa
1.
An association test of the spatial distribution of rare missense variants within protein structures identifies Alzheimer's disease-related patterns.
Genome Res
; 32(4): 778-790, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35210353
2.
Transmission of Carbapenem-Resistant Klebsiella pneumoniae in US Hospitals.
Clin Infect Dis
; 76(2): 229-237, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36173830
3.
Novel loci for Alzheimer's disease identified by a genome-wide association study in Ashkenazi Jews.
Alzheimers Dement
; 19(12): 5550-5562, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37260021
4.
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
Alzheimers Dement
; 18(2): 294-306, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34152079
5.
Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1859-1875, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30108311
6.
Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.
Mol Psychiatry
; 25(8): 1901-1903, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31636380
7.
PopCluster: an algorithm to identify genetic variants with ethnicity-dependent effects.
Bioinformatics
; 35(17): 3046-3054, 2019 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30624692
8.
Pseudomonas poae-Associated Fatal Septic Transfusion Reaction, Peoria, Illinois, USA, 2017.
Emerg Infect Dis
; 25(8): 1445-1451, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31310217
9.
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Alzheimers Dement
; 15(3): 441-452, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30503768
10.
A long noncoding RNA from the HBS1L-MYB intergenic region on chr6q23 regulates human fetal hemoglobin expression.
Blood Cells Mol Dis
; 69: 1-9, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29227829
11.
A phased SNP-based classification of sickle cell anemia HBB haplotypes.
BMC Genomics
; 18(1): 608, 2017 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28800727
12.
The genetic basis of asymptomatic codon 8 frame-shift (HBB:c25_26delAA) ß(0) -thalassaemia homozygotes.
Br J Haematol
; 172(6): 958-65, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26771086
13.
A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.
Am J Hematol
; 91(11): 1118-1122, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27501013
14.
HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans.
N Engl J Med
; 364(12): 1134-43, 2011 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21428769
15.
Direct detection of indirect transmission of Streptobacillus moniliformis rat bite fever infection.
J Clin Microbiol
; 52(6): 2259-61, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24719439
16.
Ureaplasma parvum prosthetic joint infection detected by PCR.
J Clin Microbiol
; 52(6): 2248-50, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24671783
17.
Identification of occult Fusobacterium nucleatum central nervous system infection by use of PCR-electrospray ionization mass spectrometry.
J Clin Microbiol
; 52(9): 3462-4, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24966358
18.
Culture negative empyema in a critically ill child: an opportunity for rapid molecular diagnostics.
BMC Anesthesiol
; 14: 107, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25484623
19.
MitoH3: Mitochondrial Haplogroup and Homoplasmic/Heteroplasmic Variant Calling Pipeline for Alzheimer's Disease Sequencing Project.
J Alzheimers Dis Rep
; 8(1): 575-587, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746629
20.
A comparative study of structural variant calling in WGS from Alzheimer's disease families.
Life Sci Alliance
; 7(5)2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418088