Emily Place

In vitro pathogenicity evaluation of deep intronic variants for recessive genetic retinal diseases

This study evaluates the pathogenicity of deep intronic variants in recessive retinal diseases using a high-throughput splicing assay, finding that 19.4% of variants activate cryptic exons.

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed cases

The paper identifies mitochondrial DNA variants in undiagnosed rare disease families using exome and genome sequencing data, leading to diagnoses in 0.4% of cases.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

The paper identifies SMC3 loss-of-function variants associated with variable growth and developmental features, including some unexpected phenotypes like bone marrow failure and leukemia.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

A high throughput splicing assay to investigate the effect of variants of unknown significance on exon inclusion

The paper develops a high throughput splicing assay (HTSA) to assess the impact of variants of unknown significance on exon inclusion, identifying 47 variants that significantly reduce exon recognition.

The Importance of Automation in Genetic Diagnosis: Lessons from Analyzing an Inherited Retinal Degeneration Cohort with the Mendelian Analysis Toolkit (MATK)

The paper introduces MATK, an automated variant ranking tool for Mendelian disease diagnosis, showing it identifies most expert solutions and finds additional variants in unsolved cases.

Early onset non-syndromic retinal degeneration due to variants in INPP5E: phenotypic expansion of the ciliary gene previously associated with Joubert syndrome

The paper identifies INPP5E variants in non-syndromic retinal degenerations, expanding the known phenotypic spectrum of this ciliary gene.

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

The paper identifies copy-number variations (CNVs) as a significant contributor to unsolved inherited retinal degeneration (IRD) cases, increasing the genetic diagnostic rate through NGS-based CNV detection.

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families.

The paper combines whole genome sequencing and retinal organoid transcriptome analysis to identify and validate a novel non-coding pathogenic variant in a family with an unresolved genetic diagnosis.

Characterizing variants of unknown significance inrhodopsin: a functional genomics approach

This study develops a high-throughput cell-based assay to functionally characterize pathogenic variants of unknown significance in rhodopsin, recategorizing 37 variants and validating results across assays.

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

The paper identifies non-coding mutations as a significant cause of RPGRIP1-mediated inherited retinal degeneration in patients with single coding mutations.