Detalhe da pesquisa
1.
An inactivating mutation in the histone deacetylase SIRT6 causes human perinatal lethality.
Genes Dev;
32(5-6): 373-388, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29555651
2.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med;
26(5): 101075, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38251460
3.
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7.
Genet Med;
26(3): 101050, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38126281
4.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet;
106(3): 356-370, 2020 03 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32109418
5.
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.
Genet Med;
25(8): 100871, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37120726
6.
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genet Med;
25(1): 49-62, 2023 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36322151
7.
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
Int J Mol Sci;
24(7)2023 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37047575
8.
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature.
Int J Mol Sci;
24(18)2023 Sep 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37762546
9.
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Am J Med Genet A;
188(6): 1777-1791, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35253369
10.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci;
23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35887345
11.
Episignature Mapping of TRIP12 Provides Functional Insight into Clark-Baraitser Syndrome.
Int J Mol Sci;
23(22)2022 Nov 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36430143
12.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med;
23(6): 1065-1074, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33547396
13.
JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.
Genet Med;
23(2): 374-383, 2021 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33077894
14.
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Am J Med Genet A;
182(8): 1952-1956, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32462814
15.
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Curr Diab Rep;
20(9): 44, 2020 07 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32729070
16.
Hyperuricaemia and its association with 10-year risk of cardiovascular disease among migrant and non-migrant African populations: the RODAM study.
Trop Med Int Health;
25(4): 496-505, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31825117
17.
A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome.
Hum Mol Genet;
26(13): 2541-2550, 2017 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28449065
18.
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders.
Am J Hum Genet;
108(6): 1161-1163, 2021 Jun 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34087165
19.
Correction: Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Genet Med;
23(11): 2228, 2021 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33637969
20.
Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups.
Am J Med Genet A;
170(9): 2248-60, 2016 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27419809