Beyond the exome: what's next in diagnostic testing for Mendelian conditions
Despite advances in clinical genetic testing, including the introduction of exome sequencing
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
(ES), more than 50% of individuals with a suspected Mendelian condition lack a precise …
The omics era: a nexus of untapped potential for Mendelian chromatinopathies
AA Nava, VA Arboleda - Human Genetics, 2024 - Springer
The OMICs cascade describes the hierarchical flow of information through biological
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …
systems. The epigenome sits at the apex of the cascade, thereby regulating the RNA and …
Single-cell Atlas of common variable immunodeficiency shows germinal center-associated epigenetic dysregulation in B-cell responses
Common variable immunodeficiency (CVID), the most prevalent symptomatic primary
immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody …
immunodeficiency, displays impaired terminal B-cell differentiation and defective antibody …
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes
Z Awamleh, E Chater-Diehl, S Choufani… - European Journal of …, 2022 - nature.com
The additional sex combs-like (ASXL) gene family—encoded by ASXL1, ASXL2, and ASXL3—
is crucial for mammalian development. Pathogenic variants in the ASXL gene family are …
is crucial for mammalian development. Pathogenic variants in the ASXL gene family are …
X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition
JR Volpatti, MM Ghahramani-Seno, M Mansat… - Acta …, 2022 - Springer
X-linked myotubular myopathy (XLMTM) is a fatal neuromuscular disorder caused by loss of
function mutations in MTM1. At present, there are no directed therapies for XLMTM, and …
function mutations in MTM1. At present, there are no directed therapies for XLMTM, and …
LINE-1 and Alu methylation signatures in autism spectrum disorder and their associations with the expression of autism-related genes
T Saeliw, T Permpoon, N Iadsee, T Tencomnao… - Scientific reports, 2022 - nature.com
Long interspersed nucleotide element-1 (LINE-1) and Alu elements are retrotransposons
whose abilities cause abnormal gene expression and genomic instability. Several studies …
whose abilities cause abnormal gene expression and genomic instability. Several studies …
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
D Rots, S Choufani, V Faundes… - The American Journal of …, 2024 - cell.com
Trithorax-related H3K4 methyltransferases, KMT2C and KMT2D, are critical epigenetic
modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of …
modifiers. Haploinsufficiency of KMT2C was only recently recognized as a cause of …
Epigenome-wide DNA methylation study of whole blood in patients with sporadic amyotrophic lateral sclerosis
Z Cai, X Jia, M Liu, X Yang, L Cui - Chinese medical journal, 2022 - mednexus.org
Background: Epigenetics, and especially DNA methylation, contributes to the pathogenesis
of sporadic amyotrophic lateral sclerosis (SALS). This study aimed to investigate the role of …
of sporadic amyotrophic lateral sclerosis (SALS). This study aimed to investigate the role of …
DNA methylation signatures for chromatinopathies: current challenges and future applications
Z Awamleh, S Goodman, S Choufani, R Weksberg - Human Genetics, 2024 - Springer
Pathogenic variants in genes that encode epigenetic regulators are the cause for more than
100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA …
100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA …
Rare de novo gain-of-function missense variants in DOT1L are associated with developmental delay and congenital anomalies
Misregulation of histone lysine methylation is associated with several human cancers and
with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding …
with human developmental disorders. DOT1L is an evolutionarily conserved gene encoding …