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.
Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene.
Genet Med
; 26(3): 101041, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054406
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.
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
5.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Clin Genet
; 105(6): 655-660, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38384171
6.
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects.
Am J Hum Genet
; 107(6): 1170-1177, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33232677
7.
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations.
Am J Hum Genet
; 107(4): 727-742, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32891193
8.
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
9.
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
10.
5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
Am J Med Genet A
; 191(3): 835-841, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36458506
11.
Sex-specific newborn screening for X-linked adrenoleukodystrophy.
J Inherit Metab Dis
; 46(1): 116-128, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36256460
12.
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
13.
De novo variants in the PABP domain of PABPC1 lead to developmental delay.
Genet Med
; 24(8): 1761-1773, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511136
14.
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
15.
How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
J Inherit Metab Dis
; 45(4): 663-681, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506430
16.
DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome.
Int J Mol Sci
; 23(14)2022 Jul 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35887345
17.
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome.
Int J Mol Sci
; 23(3)2022 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35163737
18.
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
19.
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.
Am J Hum Genet
; 103(5): 752-768, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30388402
20.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990