Detalhe da pesquisa
1.
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
2.
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
3.
45,X/46,XY mosaicism: Clinical manifestations and long term follow-up.
Am J Med Genet A
; 194(3): e63451, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37882230
4.
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
5.
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition.
Acta Neuropathol
; 144(3): 537-563, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35844027
6.
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
7.
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder.
Genet Med
; 23(11): 2150-2159, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34345024
8.
Coordinated Tcf7l2 regulation in a mouse model implicates Wnt signaling in fetal alcohol spectrum disorders.
Biochem Cell Biol
; 97(4): 375-379, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30398926
9.
Human COL5A1 polymorphisms and quadriceps muscle-tendon mechanical stiffness in vivo.
Exp Physiol
; 101(12): 1581-1592, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27717059
10.
Peripheral blood DNA methylation and neuroanatomical responses to HDACi treatment that rescues neurological deficits in a Kabuki syndrome mouse model.
Clin Epigenetics
; 15(1): 172, 2023 10 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37884963
11.
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Eur J Hum Genet
; 30(6): 695-702, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35361921
12.
Epigenetic Impacts of Early Life Stress in Fetal Alcohol Spectrum Disorders Shape the Neurodevelopmental Continuum.
Front Mol Neurosci
; 14: 671891, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34149355
13.
Obsessive-compulsive disorder and attention-deficit/hyperactivity disorder: distinct associations with DNA methylation and genetic variation.
J Neurodev Disord
; 12(1): 23, 2020 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32799817
14.
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome.
BMC Med Genomics
; 12(1): 105, 2019 07 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31288860
15.
Long-term alterations to DNA methylation as a biomarker of prenatal alcohol exposure: From mouse models to human children with fetal alcohol spectrum disorders.
Alcohol
; 60: 67-75, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28187949
16.
Changes to histone modifications following prenatal alcohol exposure: An emerging picture.
Alcohol
; 60: 41-52, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431792
17.
Alteration of Gene Expression, DNA Methylation, and Histone Methylation in Free Radical Scavenging Networks in Adult Mouse Hippocampus following Fetal Alcohol Exposure.
PLoS One
; 11(5): e0154836, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27136348