Detalhe da pesquisa
1.
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies.
Am J Hum Genet
; 110(11): 1919-1937, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37827158
2.
ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome.
Hum Mol Genet
; 32(9): 1429-1438, 2023 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36440975
3.
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.
Am J Hum Genet
; 109(10): 1867-1884, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130591
4.
Anatomy of DNA methylation signatures: Emerging insights and applications.
Am J Hum Genet
; 108(8): 1359-1366, 2021 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34297908
5.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-33909990
6.
DNA methylation signatures for chromatinopathies: current challenges and future applications.
Hum Genet
; 2023 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-37022461
7.
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.
Am J Hum Genet
; 106(5): 596-610, 2020 05 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32243864
8.
Missense variant in SRCAP with distinct DNA methylation signature associated with non-FLHS SRCAP-related neurodevelopmental disorder.
Am J Med Genet A
; 191(10): 2640-2646, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37340855
9.
The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13-related disorder.
Am J Med Genet A
; 188(5): 1368-1375, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35043535
10.
Impact of assisted reproduction, infertility, sex and paternal factors on the placental DNA methylome.
Hum Mol Genet
; 28(3): 372-385, 2019 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239726
11.
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Br J Cancer
; 124(2): 437-446, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33012783
12.
Genomic imbalances in the placenta are associated with poor fetal growth.
Mol Med
; 27(1): 3, 2021 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33413077
13.
Human-specific regulation of MeCP2 levels in fetal brains by microRNA miR-483-5p.
Genes Dev
; 27(5): 485-90, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23431031
14.
EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.
Hum Mutat
; 41(10): 1722-1733, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32623772
15.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Am J Hum Genet
; 100(3): 488-505, 2017 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28257691
16.
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions.
Am J Hum Genet
; 100(5): 773-788, 2017 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475860
17.
Epigenetic signatures in overgrowth syndromes: Translational opportunities.
Am J Med Genet C Semin Med Genet
; 181(4): 491-501, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828978
18.
Rare SUZ12 variants commonly cause an overgrowth phenotype.
Am J Med Genet C Semin Med Genet
; 181(4): 532-547, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31736240
19.
DNA Methylation Reduces the Yes-Associated Protein 1/WW Domain Containing Transcription Regulator 1 Pathway and Prevents Pathologic Remodeling during Bladder Obstruction by Limiting Expression of BDNF.
Am J Pathol
; 188(10): 2177-2194, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30121256
20.
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins with dysmorphic features and developmental delay.
J Med Genet
; 55(12): 847-852, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30007940