Detalhe da pesquisa
1.
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia.
Am J Hum Genet
; 109(3): 508-517, 2022 03 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172124
2.
An intermediate-effect size variant in UMOD confers risk for chronic kidney disease.
Proc Natl Acad Sci U S A
; 119(33): e2114734119, 2022 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35947615
3.
Diagnostic yield of exome sequencing in early onset hypertensive nephropathy in adults.
Am J Nephrol
; 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38471460
4.
Biallelic variants in NSUN6 cause an autosomal recessive neurodevelopmental disorder.
Genet Med
; 25(9): 100900, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226891
5.
Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype.
Am J Kidney Dis
; 2023 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37844724
6.
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Brain
; 145(3): 1029-1037, 2022 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34983064
7.
Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
J Med Genet
; 59(12): 1234-1240, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36137615
8.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Genet Med
; 24(6): 1316-1327, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35311657
9.
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56.
Hum Mutat
; 39(1): 140-151, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29034544
10.
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report.
BMC Med Genet
; 19(1): 118, 2018 07 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-30021525
11.
Exome data reanalysis solved case in undetermined nephropathy with detection of TULP3-truncating variant.
Nephrol Dial Transplant
; 38(4): 1057-1060, 2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460032
12.
Diagnostic Utility of Exome Sequencing for Kidney Disease.
N Engl J Med
; 380(21): 2079-2080, 2019 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-31116937
13.
The Case | Isolated microscopic hematuria: a diagnostic journey.
Kidney Int
; 100(4): 955-956, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34556307
14.
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.
J Med Genet
; 51(2): 137-42, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24319291
15.
Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis.
JAMA
; 324(23): 2445, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320216
16.
Comment on "Trisomy 21 noninvasive prenatal testing for twin pregnancies".
Prenat Diagn
; 39(7): 571-572, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106873
17.
Beyond the kidney biopsy: genomic approach to undetermined kidney diseases.
Clin Kidney J
; 17(1): sfad099, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186885
18.
Colonization of Honey Bee Digestive Tracts by Environmental Yeast Lachancea thermotolerans Is Naturally Occurring, Temperature Dependent, and Impacts the Microbiome of Newly Emerged Bees.
Microbiol Spectr
; : e0519422, 2023 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36790179
19.
Diagnosis of Kidney Diseases of Unknown Etiology Through Biopsy-Genetic Analysis.
Kidney Int Rep
; 8(10): 2077-2087, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850010
20.
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Kidney Int Rep
; 8(3): 596-605, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36938085