Leandros Boukas

Yield of Long-Read Genome Sequencing for Rare Disease Diagnosis in Short-Read Genome Negative Cases

This study evaluates the diagnostic yield of long-read genome sequencing in cases where short-read sequencing failed, finding an incremental yield of 4.7% due to LR-GS's ability to detect structural variants and other complex genomic features.

Identification of de novo variants from parent-proband duos via long-read sequencing

duoNovo identifies de novo variants from parent-proband duos using long-read sequencing, achieving high precision and low error rates in diagnostic evaluations.

Genome-wide profiling of highly similar paralogous genes using HiFi sequencing

The paper develops Paraphase, a HiFi-based method to resolve highly similar paralogous genes, revealing genetic diversity and de novo events in segmental duplications.

Neuron-specific chromatin disruption at CpG islands and aging-related regions in Kabuki syndrome mice

The paper examines chromatin disruption in different cell types of Kabuki syndrome mice and finds that neuronal chromatin abnormalities differ from those in B and T cells, with unique disruptions at CpG islands and aging-related regions.

Novel mouse model of Weaver syndrome displays overgrowth and excess osteogenesis reversible with KDM6A/6B inhibition

The paper creates a mouse model of Weaver syndrome and shows that inhibiting KDM6A/6B can reverse excessive osteogenesis caused by an EZH2 mutation.

Pumping the brakes on RNA velocity - understanding and interpreting RNA velocity estimates

This paper analyzes the limitations of RNA velocity estimates by examining how different workflow steps affect the vector field and concludes that RNA velocity should not be interpreted as predicting future cellular states.

Growth retardation in a mouse model of Kabuki syndrome 2 bears mechanistic similarities to Kabuki syndrome 1

This study compares growth retardation in mouse models of Kabuki syndrome 1 and 2, finding similar transcriptional profiles in their chondrocyte models.

Missense variants causing Wiedemann-Steiner syndrome preferentially occur in the KMT2A-CXXC domain and are accurately classified using AlphaFold2

The paper identifies that WSS-causing variants in KMT2A cluster in the CXXC domain and demonstrates AlphaFold2's ability to accurately classify these variants.

Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation

The paper identifies shared epigenetic and transcriptomic disruptions across three MDEMs to map functional epigenetic variation.

Promoter CpG density is predictive of downstream gene loss-of-function intolerance

The paper shows that promoter CpG density predicts gene loss-of-function intolerance and improves prediction models for LoF-intolerant genes.

Precocious Chondrocyte Differentiation Disrupts Skeletal Growth in Kabuki Syndrome Mice

This study identifies disrupted endochondral ossification in Kabuki syndrome mice due to precocious chondrocyte differentiation, linking KMT2D dysfunction to altered Shox2 expression and growth retardation.

Testing the Regulatory Consequences of 1,049 Schizophrenia Associated Variants With a Massively Parallel Reporter Assay

The paper tests 1,049 schizophrenia-associated variants using MPRA to identify functional effects on gene expression, finding no preference for risk alleles to increase or decrease expression.

Precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome

This study investigates the effects of KMT2D loss in brain cell development, finding precocious neuronal differentiation and disrupted oxygen responses in Kabuki syndrome models.

Co-expression patterns define epigenetic regulators associated with neurological dysfunction

The paper identifies 103 novel epigenetic regulator disease candidates by analyzing co-expression patterns and loss-of-function intolerance in human epigenetic machinery genes.