Zain Awamleh

Transforming blood-derived episignatures into cell-type-agnostic classifiers: A shortcut to prenatal episignatures

Nikola Reko, Arteen Torabi‐Marashi, Prajkta Kallurkar, Sarah J. Goodman et autres

ca, us, kr (code pays fourni par la source)

KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders

Zain Awamleh, Anthony Chen, Sanaa Choufani, Dmitrijs Rots et autres

ca, nl, kr, us, no, it, pt, es, fr, de (code pays fourni par la source)

ASXL1 truncating variants in BOS and myeloid leukemia drive shared disruption of Wnt-signaling pathways but have differential isoform usage of RUNX3

Isabella Lin, Zain Awamleh, Mili Sinvhal, Andrew C.A. Wan et autres

BACKGROUND: Rare variants in epigenes (a.k.a. chromatin modifiers), a class of genes that control epigenetic regulation, are commonly identified in both pediatric neurodevelopmental syndromes and as somatic variants in cancer. However, little is known about the extent of the shared disruption of …

us, ca, pl (code pays fourni par la source)

Correction: A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots et autres

Correction to: European Journal of Human Genetics https://doi.org/10.1038/s41431-024-01538-6 , published online 29 January 2024.

ca, nl, es, de (code pays fourni par la source)

A new blood DNA methylation signature for Koolen-de Vries syndrome: Classification of missense KANSL1 variants and comparison to fibroblast cells

Zain Awamleh, Sanaa Choufani, Wendy Wu, Dmitrijs Rots et autres

Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome with characteristic facial dysmorphia. Our previous work has shown that syndromic conditions caused by pathogenic variants in epigenetic regulatory genes have identifiable patterns of DNA …

ca, nl, es, de (code pays fourni par la source)

P192: Deep neurologic phenotyping and biomarker development in Bohring-Opitz syndrome using EEGs, neurodevelopmental assessments, and DNA methylation signature

Bianca Russell, Julia Sloan, Hiroki Nariai, Natasha Ludwig et autres

Bohring-Opitz Syndrome (BOS) is a rare syndromic neurodevelopmental disorder caused by truncating variants in ASXL1. It is characterized by distinctive facial features, posture, multiple congenital anomalies, and severe to profound intellectual disabilities. While seizures are well reported in BOS, the electroencephalogram (EEG) …

us, gb, ca (code pays fourni par la source)

P637: A newly derived DNA methylation signature for Koolen de Vries syndrome addresses the diagnostic challenges of the 17q21.31 locus

Zain Awamleh, Sanaa Choufani, Dmitrijs Rots, Alexander J.M. Dingemans et autres

Pathogenic variants in KANSL1 and 17q21.31 microdeletions are causative of Koolen-de Vries syndrome (KdVS), a neurodevelopmental syndrome characterized by developmental delay, hypotonia, and distinct facial dysmorphia. In addition to the diagnostic challenges of classifying missense KANSL1 variants, the structural complexity and genomic …

ca, nl (code pays fourni par la source)

Multiomics of Bohring-Opitz syndrome truncating ASXL1 mutations identify canonical and noncanonical Wnt signaling dysregulation

Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh et autres

ASXL1 (additional sex combs-like 1) plays key roles in epigenetic regulation of early developmental gene expression. De novo protein-truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS; OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities, distinctive facial features, hypertrichosis, increased …

us, ca (code pays fourni par la source)

DNA methylation signatures for chromatinopathies: current challenges and future applications

Zain Awamleh, Sarah J. Goodman, Sanaa Choufani, Rosanna Weksberg

Pathogenic variants in genes that encode epigenetic regulators are the cause for more than 100 rare neurodevelopmental syndromes also termed "chromatinopathies". DNA methylation signatures, syndrome-specific patterns of DNA methylation alterations, serve as both a research avenue for elucidating disease pathophysiology and a …

ca (code pays fourni par la source)

ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures

Isabella Lin, Zain Awamleh, Angela Wei, Bianca Russell et autres

Abstract De novo , truncating variants of ASXL1 cause two distinct disorders: Bohring-Opitz Syndrome (BOS, OMIM #605039) a rare pediatric disorder characterized by multiorgan anomalies that disrupt normal brain, heart, and bone development causing severe intellectual disability or are somatic driver mutations …

us, ca (code pays fourni par la source)

Multi-omics on truncating ASXL1 mutations in Bohring Opitz syndrome identify dysregulation of canonical and non-canonical Wnt signaling

Isabella Lin, Angela Wei, Zain Awamleh, Meghna Singh et autres

ABSTRACT ASXL1 ( Additional sex combs-like 1 ) plays key roles in epigenetic regulation of early developmental gene expression. De novo truncating mutations in ASXL1 cause Bohring-Opitz syndrome (BOS, OMIM #605039), a rare neurodevelopmental condition characterized by severe intellectual disabilities, characteristic facial …

us, ca (code pays fourni par la source)

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S. Alkuraya et autres

Pathogenic variants in ANKRD11 or microdeletions at 16q24.3 are the cause of KBG syndrome (KBGS), a neurodevelopmental syndrome characterized by intellectual disability, dental and skeletal anomalies, and characteristic facies. The ANKRD11 gene encodes the ankyrin repeat-containing protein 11A transcriptional regulator, which is …

ca, sa, pt (code pays fourni par la source)