Dirk F. Hockemeyer

Telomere length of both parents contributes to heritable POT1 cancer-predisposition syndrome

The paper investigates how POT1 mutations affect telomere inheritance and cancer risk by analyzing telomere length in families with POT1 mutations.

Phenotypic CRISPR screening identifies ZBTB10 as a novel regulator of human trophoblast differentiation

The paper uses an arrayed CRISPR screen to identify ZBTB10 as a regulator of human trophoblast differentiation, showing its role in fusion and hormone secretion.

iSCORE-PD: an isogenic stem cell collection to research Parkinson Disease

The paper generates a collection of 65 isogenic human stem cell lines with PD-associated mutations to study Parkinson's disease, revealing that most genetic variation comes from cell culture rather than genome editing.

An isogenic single-cell atlas of familial Parkinson's disease mutations reveals convergent changes in dopamine neurons

This study creates an isogenic single-cell atlas of familial Parkinson's disease mutations, revealing shared transcriptional changes in dopamine neurons across diverse genetic backgrounds.

Decoding the BRCA2 reversion principles underlying PARP inhibitor resistance

The paper identifies principles governing BRCA2 reversion mutations that confer resistance to PARP inhibitors using CRISPR editing and an isogenic cell system.

TDP-43 loss of function drives aberrant splicing in Parkinson's disease

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

A suite of enhancer AAVs and transgenic mouse lines for genetic access to cortical cell types

The paper develops a toolkit of transgenic mouse lines and enhancer AAVs for selective targeting of cortical cell populations using transcriptomic and epigenomic data.

mTORC1 activation drives astrocyte reactivity in cortical tubers and brain organoid models of TSC

This study shows that mTORC1 activation in astrocytes drives reactivity in cortical tubers and brain organoids, linking it to TSC pathology.

Dissecting the oncogenic mechanisms of POT1 cancer mutations through deep scanning mutagenesis

This study uses deep scanning mutagenesis to analyze POT1 mutations in human stem cells, revealing that some cancer-associated variants drive telomere elongation and oncogenesis independently of telomere replication.

Digital telomere measurement by long-read sequencing distinguishes healthy aging from disease

This paper uses long-read sequencing to measure telomere length distributions in human cells, finding that aging is associated with loss of long telomeres and accumulation of short ones, and develops a classifier to distinguish healthy aging from telomere disorders.

Familial Parkinson's Disease Mutations Converge on Alternative Splicing Programs Linked to Lysosomal, Autophagic and Vesicle Trafficking Pathways

The paper investigates how familial Parkinson's disease mutations affect pre-mRNA splicing in dopaminergic neurons, identifying five functional classes of splicing changes and potential biomarkers and therapeutic targets.

Conserved chromatin and repetitive patterns reveal slow genome evolution in frogs

The paper presents high-quality genomes and chromatin structure analyses of frogs, revealing conserved ancestral chromosomes and stable genome evolution.

STAT3 regulates the generation of astroglia inhuman brain organoids with high mTORC1 activity

The paper shows that STAT3, downstream of mTORC1, regulates astroglia generation in human brain organoids, but mTORC1 is not required for cytokine-induced STAT3 activation.

Tracing cancer evolution and heterogeneity using Hi-C

The paper develops HiDENSEC to analyze Hi-C data in heterogeneous cancer samples, identifying chromosomal rearrangements and their impact on melanoma progression.

Highly efficient generation of isogenic pluripotent stem cell models using prime editing

This paper compares prime editing efficiency to conventional methods in human pluripotent stem cells, showing higher efficiency with optimized mRNA delivery for mutation correction and introduction.

Generation of a DAT-Flp mouse line for intersectional genetic targeting of dopamine neuron subpopulations

The paper introduces a DAT-Flp mouse line to selectively label dopaminergic subpopulations using intersectional genetic strategies.

Telomere length set point regulation in human pluripotent stem cells critically depends on the shelterin protein TPP1

This study shows that TPP1 isoforms and specific residues regulate telomere length set point in human pluripotent stem cells, with TPP1L compensating for TPP1S loss and affecting telomere stability and elongation.

Muntjac chromosome evolution and architecture

The paper analyzes chromosome evolution and architecture in muntjac deer by comparing genome assemblies and identifying fusion events across species.