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Michael A. Levy

London Health Sciences Centre
H指数:30
被引数:6,049

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Nanopore sequencing enables combined detection of USP7 variants and a known Hao-Fountain syndrome episignature

纳米孔测序技术实现了USP7基因变异与已知的Hao-Fountain综合征表观签名的同时检测。

2026-01-050
OAAI
Identification of an episignature for the MEF2C-associated syndrome

MEF2C相关综合征的表观遗传特征鉴定

2025-11-250
PRE
DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观签名作为Diamond-Blackfan贫血综合征的新型诊断工具

2025-11-170
OAAI
Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome

发现一种DNA甲基化表观签名作为胎儿酒精综合征的分子生物标志物

2025-09-180
OAAI
DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

DNA甲基化表观签名用于Smith-Magenis和Potocki-Lupski综合征:镜像视角

2025-09-010
PRE
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature
2025-03-010
OA
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
2024-10-010
OAAI
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid
2024-10-010
PRE
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

全面的EHMT1变异分析拓宽了Kleefstra综合征的基因型-表型关联和分子机制

2024-08-018
PRE
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations

鉴定胚胎畸形复发星座的DNA甲基化epi签名

2024-08-011
PRE
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
2024-07-014
OAAI
The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
2024-05-243
OAAI
Diagnostic utility and reporting recommendations for clinical DNA methylation episignature testing in rare diseases
2024-05-0112
PRE
DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7

USP7变异引起的Hao-Fountain综合征的DNA甲基化表观签名,临床特征的扩展和比较表观基因组分析

2024-03-013
OAAI
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals
2024-01-012
PRE
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
2023-08-0111
PRE
DNA methylation episignatures are sensitive and specific biomarkers for detection of patients with KAT6A/KAT6B variants
2023-05-304
PRE