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The omics era: a nexus of untapped potential for Mendelian chromatinopathies
The OMICs cascade describes the hierarchical flow of information through biological systems. The epigenome sits at the apex of the cascade, thereby...
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Inability to switch from ARID1A-BAF to ARID1B-BAF impairs exit from pluripotency and commitment towards neural crest formation in ARID1B-related neurodevelopmental disorders
Subunit switches in the BAF chromatin remodeler are essential during development. ARID1B and its paralog ARID1A encode for mutually exclusive BAF...
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A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations
Structural variants (SVs) pose a challenge to detect and interpret, but their study provides novel biological insights and molecular diagnosis...
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Use of dual genomic sequencing to screen mitochondrial diseases in pediatrics: a retrospective analysis
Mitochondrial diseases (MDs) were a large group multisystem disorders, attributable in part to the dual genomic control. The advent of massively...
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SWI/SNF Chromatin Remodelers: Structural, Functional and Mechanistic Implications
The nuclear events of a eukaryotic cell, such as replication, transcription, recombination and repair etc. require the transition of the compactly...
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Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a wide range of genetic determinants. However, a comprehensive...
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Pediatric Vascular Malformations
Vascular malformations of the central nervous system (CNS) occur in both the brain and spinal cord. Brain vascular malformations are the leading...
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DNA methylation trajectories and accelerated epigenetic aging in incident type 2 diabetes
DNA methylation (DNAm) patterns across the genome changes during aging and development of complex diseases including type 2 diabetes (T2D). Our study...
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
PurposeSifrim–Hitz–Weiss syndrome (SIHIWES) is a recently described multisystemic neurodevelopmental disorder caused by de novo...
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The SWI/SNF Complex: A Frequently Mutated Chromatin Remodeling Complex in Cancer
The switch/sucrose non-fermenting (SWI/SNF) chromatin remodeling complex is a global regulator of gene expression known to maintain...
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Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
TET3 encodes an essential dioxygenase involved in epigenetic regulation through DNA demethylation. TET3 deficiency, or Beck-Fahrner syndrome...
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Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
BackgroundADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused...
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Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients
Coffin–Siris syndrome (CSS, MIM#135900) is a congenital disorder characterized by coarse facial features, intellectual disability, and hypoplasia of...
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BRM: the core ATPase subunit of SWI/SNF chromatin-remodelling complex—a tumour suppressor or tumour-promoting factor?
BRM (BRAHMA) is a core, SWI2/SNF2-type ATPase subunit of SWI/SNF chromatin-remodelling complex (CRC) involved in various important regulatory...
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Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature
BackgroundWe previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern.
Results ...
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Origins of human genetics. A personal perspective
Genetics evolved as a field of science after 1900 with new theories being derived from experiments obtained in fruit flies, bacteria, and viruses....
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome
Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder with specific dysmorphic features. Pathogenic genetic variants encoding cohesion...
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Evidence for the placenta-brain axis: multi-omic kernel aggregation predicts intellectual and social impairment in children born extremely preterm
BackgroundChildren born extremely preterm are at heightened risk for intellectual and social impairment, including Autism Spectrum Disorder (ASD)....
