Detalhe da pesquisa
1.
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
J Med Genet
; 61(4): 347-355, 2024 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37979963
2.
Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
J Med Genet
; 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458752
3.
Haplotyping Using Long-Range PCR and Nanopore Sequencing to Phase Variants: Lessons Learned From the ABCA4 Locus.
Lab Invest
; 103(8): 100160, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088464
4.
Inherited CD19 Deficiency Does Not Impair Plasma Cell Formation or Response to CXCL12.
J Clin Immunol
; 43(7): 1543-1556, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37246174
5.
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project.
J Med Genet
; 59(8): 737-747, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34716235
6.
Identification of a novel MAGT1 mutation supports a diagnosis of XMEN disease.
Genes Immun
; 23(2): 66-72, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35264785
7.
Long-read nanopore DNA sequencing can resolve complex intragenic duplication/deletion variants, providing information to enable preimplantation genetic diagnosis.
Prenat Diagn
; 42(2): 226-232, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35014072
8.
Transport Medical Control Education for Pediatric Critical Care Fellows: A National Needs Assessment Study.
Pediatr Crit Care Med
; 23(1): e55-e59, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34261945
9.
Assessing the utility of long-read nanopore sequencing for rapid and efficient characterization of mobile element insertions.
Lab Invest
; 101(4): 442-449, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989232
10.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Am J Hum Genet
; 103(5): 727-739, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388400
11.
A crowdsourced set of curated structural variants for the human genome.
PLoS Comput Biol
; 16(6): e1007933, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32559231
12.
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.
J Med Genet
; 57(5): 322-330, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31879361
13.
Long-read nanopore sequencing resolves a TMEM231 gene conversion event causing Meckel-Gruber syndrome.
Hum Mutat
; 41(2): 525-531, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31663672
14.
Cas9-based enrichment and single-molecule sequencing for precise characterization of genomic duplications.
Lab Invest
; 100(1): 135-146, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31273287
15.
DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport.
Hum Mol Genet
; 27(3): 529-545, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228333
16.
m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data.
RNA
; 23(10): 1493-1501, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28724534
17.
Derivation of a quick Pitt bacteremia score to predict mortality in patients with Gram-negative bloodstream infection.
Infection
; 47(4): 571-578, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30737765
18.
An alternative to array-based diagnostics: a prospectively recruited cohort, comparing arrayCGH to next-generation sequencing to evaluate foetal structural abnormalities.
J Obstet Gynaecol
; 39(3): 328-334, 2019 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714504
19.
Trial of short-course antimicrobial therapy for intraabdominal infection.
N Engl J Med
; 372(21): 1996-2005, 2015 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25992746
20.
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax
; 73(2): 157-166, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28790179