Detalhe da pesquisa
1.
Variant calling and benchmarking in an era of complete human genome sequences.
Nat Rev Genet
; 24(7): 464-483, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37059810
2.
Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes.
Nat Methods
; 20(8): 1213-1221, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37365340
3.
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
Nature
; 541(7635): 87-91, 2017 01 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28002403
4.
Quantum-cascade-laser-absorption-spectroscopy diagnostic for temperature, pressure, and NO X 2 Π 1/2 at 500 kHz in shock-heated air at elevated pressures.
Appl Opt
; 62(6): A12-A24, 2023 Feb 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36821295
5.
Hypertension and Gastrointestinal Bleed in COVID-19 Patients: Associations with Mortality, Acute Kidney Injury, Vasopressor Use, and Mechanical Ventilation Use.
Folia Med Cracov
; 63(4): 99-108, 2023 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38578349
6.
Unintended Perioperative Hypothermia and Surgical Site Infection in Children.
J Surg Res
; 276: 235-241, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35395563
7.
Pulse-burst spontaneous Raman thermometry of unsteady wave phenomena in a shock tube.
Opt Lett
; 46(9): 2160-2163, 2021 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33929443
8.
Peanut Allergen Powder-dnfp: A Novel Oral Immunotherapy to Mitigate Peanut Allergy.
Ann Pharmacother
; 55(3): 344-353, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718178
9.
Nutraceuticals Synergistically Promote Osteogenesis in Cultured 7F2 Osteoblasts and Mitigate Inhibition of Differentiation and Maturation in Simulated Microgravity.
Int J Mol Sci
; 23(1)2021 Dec 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35008559
10.
metagenomeFeatures: an R package for working with 16S rRNA reference databases and marker-gene survey feature data.
Bioinformatics
; 35(19): 3870-3872, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30821316
11.
Metaviz: interactive statistical and visual analysis of metagenomic data.
Nucleic Acids Res
; 46(6): 2777-2787, 2018 04 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29529268
12.
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
Hum Mol Genet
; 26(9): 1706-1715, 2017 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28334793
13.
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Hum Mutat
; 38(6): 611-614, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251733
14.
Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.
Hum Mol Genet
; 24(18): 5109-14, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26085578
15.
Privacy-preserving microbiome analysis using secure computation.
Bioinformatics
; 32(12): 1873-9, 2016 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26873931
16.
Web-Based Video Assessments of Operative Performance for Remote Telementoring.
Surg Technol Int
; 30: 25-30, 2017 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-28695970
17.
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
BMC Med Genet
; 17: 15, 2016 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-26922654
18.
Mouse model of endoscopically ablated enteric nervous system.
J Surg Res
; 200(1): 117-21, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26299595
19.
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Hum Mutat
; 36(1): 69-78, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25265257
20.
A novel in vivo model of permanent intestinal aganglionosis.
J Surg Res
; 192(1): 27-33, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25015748