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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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35659929
2.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
J Med Genet
; 61(2): 132-141, 2024 Jan 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-37580113
3.
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Am J Hum Genet
; 108(6): 1053-1068, 2021 06 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-33909990
4.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
; 182(6): 2683-2692, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-36997769
5.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-36647814
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31708118
7.
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clin Genet
; 101(2): 183-189, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34671974
8.
Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing.
Hum Reprod
; 37(11): 2700-2708, 2022 10 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-36149256
9.
Liquid biopsy: state of reproductive medicine and beyond.
Hum Reprod
; 36(11): 2824-2839, 2021 10 18.
Artículo
en Inglés
| MEDLINE | ID: mdl-34562078
10.
Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.
Hum Mutat
; 41(1): 196-202, 2020 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31498527
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35803237
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-32333414
13.
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Hum Mutat
; 40(12): 2270-2285, 2019 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-31206972
14.
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
Am J Hum Genet
; 98(3): 541-552, 2016 Mar 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-26942287
15.
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Ann Neurol
; 84(2): 200-207, 2018 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-30014507
16.
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
Ann Neurol
; 84(5): 788-795, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30269351
17.
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
J Med Genet
; 55(2): 104-113, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29097605
18.
De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.
Hum Mutat
; 39(7): 1014-1023, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29688601
19.
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disability.
Hum Mutat
; 38(10): 1365-1371, 2017 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-28649782
20.
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Genet Med
; 19(6): 667-675, 2017 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-28574513