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Archives: Publications

Targeting ERRα promotes cytotoxic effects against acute myeloid leukemia through suppressing mitochondrial oxidative phosphorylation

Acute myeloid leukemia (AML) is the most common type of leukemia with a 5-year survival of 24%. Sema4 researchers, in partnership with Chungnam National University College of Medicine, South Korea and the Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, have discovered that an estrogen-related receptor (ERRα) plays an role in AML development. Targeting ERRα promotes cytotoxic effects against acute myeloid leukemia through suppressing mitochondrial oxidative phosphorylation

Genomic Evaluation for Mitochondrial Disease in 1,935 Infants

This study focuses on mitochondrial disease phenotypes and genotypes in infants who have undergone rapid DNA sequencing. As more NICUs are utilizing this technology, it remains an open question if one should also include rapid mitochondrial DNA (mt-DNA) testing. This study evaluates the incidence of mitochondrial disease caused by both n-DNA and mt-DNA in NICU Genomic Evaluation for Mitochondrial Disease in 1,935 Infants

Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

This large study of 404 individuals with CTNNB1 variants provides a more comprehensive understanding of CTNNB1-related phenotypes and related health needs, and confirms that cerebral palsy (CP) is a common feature amongst individuals with CTNNB1 variants.

Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy

Among patients with cerebral palsy who underwent exome sequencing, the prevalence of pathogenic and likely pathogenic variants was 32.7% in a cohort that predominantly consisted of pediatric patients and 10.5% in a cohort that predominantly consisted of adult patients.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders.

CDK19-related disorder results from both loss-of-function and gain-of-function de novo missense variants

CDK19 de novo missense variants are responsible for a novel neurodevelopmental disorder.

Uniparental disomy in a population of 32,067 clinical exome trios

Trio exome sequencing (ES) presents a comprehensive method for detection of UPD alongside sequence and copy-number variant analysis.

Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia

GNAI1-related NDD is most often characterized by severe to profound delays, hypotonia, epilepsy that ranges from self-limiting to intractable, behavior problems, and variable mild dysmorphic features.

A dyadic approach to the delineation of diagnostic entities in clinical genomics

The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders.

De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy

We expand the spectrum of disorders associated with pathogenic variants in POLR3B to include a de novo heterozygous POLR3B-related disorder.