Detalhe da pesquisa
1.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(6): 1140-1152, 2022 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35659929
2.
All-in-one whole exome sequencing strategy with simultaneous copy number variant, single nucleotide variant and absence-of-heterozygosity analysis in fetuses with structural ultrasound anomalies: A 1-year experience.
Prenat Diagn
; 43(4): 527-543, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36647814
3.
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
Am J Hum Genet
; 105(6): 1091-1101, 2019 12 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31708118
4.
MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.
Am J Hum Genet
; 103(1): 74-88, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29961571
5.
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study.
Am J Hum Genet
; 109(7): 1344, 2022 Jul 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35803237
6.
Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.
Prenat Diagn
; 40(8): 972-983, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32333414
7.
De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.
Hum Genet
; 138(1): 61-72, 2019 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535804
8.
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function.
Hum Mol Genet
; 25(5): 892-902, 2016 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26721934
9.
Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction.
Hum Genet
; 137(5): 389-400, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29754270
10.
Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: results of the TRIDENT study.
Genet Med
; 20(5): 480-485, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29121006
11.
Downgrades: a potential source of moral tension.
J Med Ethics
; 49(12): 815-816, 2023 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37734905
12.
Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment.
Ear Hear
; 37(1): 103-11, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26331839
13.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Am J Hum Genet
; 90(1): 25-39, 2012 Jan 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-22209248
14.
Women's and healthcare professionals' preferences for prenatal testing: a discrete choice experiment.
Prenat Diagn
; 35(6): 549-57, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25644120
15.
Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma.
Prenat Diagn
; 35(10): 945-9, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25767004
16.
Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans.
Am J Hum Genet
; 89(6): 813-9, 2011 Dec 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22152683
17.
Similar phenotypes caused by mutations in OTOG and OTOGL.
Ear Hear
; 35(3): e84-91, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24378291
18.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Hum Mutat
; 34(12): 1721-6, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123792
19.
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease.
Front Genet
; 14: 1304520, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38259611
20.
Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.
Prenat Diagn
; 32(4): 362-70, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22467167