Detalhe da pesquisa
1.
Blepharophimosis with intellectual disability and Helsmoortel-Van Der Aa Syndrome share episignature and phenotype.
Am J Med Genet C Semin Med Genet
; : e32089, 2024 Jun 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-38884529
2.
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.
Hum Genet
; 143(6): 761-773, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787418
3.
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
4.
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in genetically undiagnosed rare diseases.
Genet Med
; 26(5): 101075, 2024 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38251460
5.
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.
Genet Med
; 25(1): 63-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36399132
6.
DNA methylation episignature in Gabriele-de Vries syndrome.
Genet Med
; 24(4): 905-914, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35027293
7.
Near complete deletion of KMT2D in a college student.
Am J Med Genet A
; 188(5): 1550-1555, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35040536
8.
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
9.
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
10.
Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.
Am J Med Genet A
; 185(2): 544-548, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33184947
11.
Identification of a DNA Methylation Episignature in the 22q11.2 Deletion Syndrome.
Int J Mol Sci
; 22(16)2021 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34445317
12.
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
13.
Identification of a DNA methylation signature for Renpenning syndrome (RENS1), a spliceopathy.
Eur J Hum Genet
; 31(8): 879-886, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36797465
14.
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants.
Epigenomics
; 15(6): 351-367, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37249002
15.
Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.
medRxiv
; 2023 Oct 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37873138
16.
Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 30(4): 420-427, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34992252
17.
The phenotypic spectrum and genotype-phenotype correlations in 106 patients with variants in major autism gene CHD8.
Transl Psychiatry
; 12(1): 421, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36182950
18.
Correction: Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711.
Eur J Hum Genet
; 2023 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040915