Detalhe da pesquisa
1.
Clonal Hematopoiesis Is Associated With Low CD4 Nadir and Increased Residual HIV Transcriptional Activity in Virally Suppressed Individuals With HIV.
J Infect Dis
; 225(8): 1339-1347, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34417800
2.
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life.
Am J Hum Genet
; 101(1): 50-64, 2017 Jul 06.
Artigo
Inglês
| MEDLINE | ID: mdl-28669404
3.
Rare genetic variants in interleukin-37 link this anti-inflammatory cytokine to the pathogenesis and treatment of gout.
Ann Rheum Dis
; 79(4): 536-544, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32114511
4.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28346496
5.
Presence of Genetic Variants Among Young Men With Severe COVID-19.
JAMA
; 324(7): 663-673, 2020 08 18.
Artigo
Inglês
| MEDLINE | ID: mdl-32706371
6.
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
Am J Hum Genet
; 98(3): 553-561, 2016 Mar 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26924530
7.
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
Am J Hum Genet
; 96(4): 612-22, 2015 Apr 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25817016
8.
Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.
Alzheimers Dement
; 14(12): 1632-1639, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30114415
9.
Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway.
Am J Hum Genet
; 95(3): 285-93, 2014 Sep 04.
Artigo
Inglês
| MEDLINE | ID: mdl-25152457
10.
BRCA Testing by Single-Molecule Molecular Inversion Probes.
Clin Chem
; 63(2): 503-512, 2017 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-27974384
11.
Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis.
Genet Med
; 18(11): 1158-1162, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-26963285
12.
Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).
J Med Genet
; 52(5): 312-6, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25670821
13.
Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome.
Am J Hum Genet
; 91(6): 1122-7, 2012 Dec 07.
Artigo
Inglês
| MEDLINE | ID: mdl-23159249
14.
Cantú syndrome is caused by mutations in ABCC9.
Am J Hum Genet
; 90(6): 1094-101, 2012 Jun 08.
Artigo
Inglês
| MEDLINE | ID: mdl-22608503
15.
Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
medRxiv
; 2024 May 04.
Artigo
Inglês
| MEDLINE | ID: mdl-38746462
16.
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Am J Hum Genet
; 87(3): 418-23, 2010 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-20817137
17.
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation.
Nat Commun
; 14(1): 6845, 2023 10 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37891200
18.
Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.
EBioMedicine
; 92: 104621, 2023 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-37209535
19.
Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses.
Genome Med
; 13(1): 94, 2021 05 25.
Artigo
Inglês
| MEDLINE | ID: mdl-34034819
20.
Clinical Validation of Whole Genome Sequencing for Cancer Diagnostics.
J Mol Diagn
; 23(7): 816-833, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33964451