Detalhe da pesquisa
1.
De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.
J Med Genet
; 61(6): 549-552, 2024 May 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38272662
2.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(9): 1692-1709, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375587
3.
Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Genet Med
; 25(9): 100883, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37154149
4.
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
5.
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disorders.
Genet Med
; 24(3): 645-653, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906484
6.
Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration.
Clin Genet
; 102(6): 537-542, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36029130
7.
Accurate detection of clinically relevant uniparental disomy from exome sequencing data.
Genet Med
; 22(4): 803-808, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31767986
8.
Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism.
Am J Med Genet A
; 182(11): 2731-2736, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32945093
9.
From man to fly - convergent evidence links FBXO25 to ADHD and comorbid psychiatric phenotypes.
J Child Psychol Psychiatry
; 61(5): 545-555, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31849056
10.
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
11.
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype.
Hum Genet
; 138(11-12): 1301-1311, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31686214
12.
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.
Am J Hum Genet
; 99(3): 555-566, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27569549
13.
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Am J Hum Genet
; 108(11): 2206, 2021 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34739836
14.
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
15.
The clustering of functionally related genes contributes to CNV-mediated disease.
Genome Res
; 25(6): 802-13, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887030
16.
Gene networks underlying convergent and pleiotropic phenotypes in a large and systematically-phenotyped cohort with heterogeneous developmental disorders.
PLoS Genet
; 11(3): e1005012, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25781962
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-28574513
18.
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Nature
; 478(7367): 97-102, 2011 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-21881559
19.
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data.
Nucleic Acids Res
; 42(Database issue): D966-74, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217912
20.
Hoe herkent u het zeldzame Phelan-McDermidsyndroom?
Huisarts Wet
; 64(11): 68-70, 2021.
Artigo
em Holandês
| MEDLINE | ID: mdl-34658402