Harold E. Smith

Genetic Compensation Restores Embryonic Viability in Fatty Acid Synthase Mutants

The paper identifies genetic suppressors of FASN dysfunction in C. elegans by using temperature-sensitive mutants and CRISPR/Cas9 to rescue embryonic lethality.

Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in C. elegans

This study identifies genetic suppressors of a BSCL2 pathogenic variant in C. elegans, revealing potential interactors and pathways involved in seipin function.

Mutation in F-actin Polymerization Factor Suppresses Distal Arthrogryposis Type 5 (DA5) PIEZO2 Pathogenic Variant in Caenorhabditis elegans

This study identifies gex-3 as a suppressor of a PIEZO-1 gain-of-function mutation in C. elegans, revealing a role for the cytoskeleton in regulating PIEZO channel activity.

Dynamic Sex Chromosome Expression in Drosophila Male Germ Cells

The paper shows that X and 4th chromosomes are inactivated while Y chromosomes are active in Drosophila primary spermatocytes using single-cell RNA-Seq.

Mutation of NEKL-4/NEK10 and TTLL genes opposes loss of the CCPP-1 deglutamylase and prevents neuronal ciliary degeneration

The paper identifies genes that regulate microtubule glutamylation and ciliary integrity in C. elegans, showing their role in preventing neuronal ciliary degeneration.

Cytosine but not adenine base editor generates mutations in mice

The paper compares the fidelity of cytosine and adenine base editors in mice, finding BE4 generates more mutations than ABE.

Mapping challenging mutations by whole-genome sequencing

This paper develops strategies for identifying challenging mutations using whole-genome sequencing in C. elegans, including methods for dominant alleles and multigenic traits.