Aren E Marshall

发表

Haploinsufficiency of an RB-E2F1-Condensin II complex leads to aberrant replication and aneuploidy.

Grant W. Brown, P. Boutros, F. Dick, 2014, Cancer discovery.

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

J. Lupski, R. Gibbs, S. Jhangiani, 2022, Annals of neurology.

Bridging clinical care and research in Ontario, Canada: Maximizing diagnoses from reanalysis of clinical exome sequencing data

Arun K. Ramani, C. Marshall, M. Tarnopolsky, 2022, Clinical genetics.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

An RB-EZH2 Complex Mediates Silencing of Repetitive DNA Sequences.

F. Dick, S. M. Rubin, Aren E. Marshall, 2016, Molecular cell.

An RB-EZH 2 Complex Med iates Silencing of Repetitive DNA Sequences Graphical Abstract Highlights

Matthew J. Cecchini, Frederick A. Dick, F. Dick, 2016 .

Whole genome sequencing reveals biallelic PLA2G6 mutations in siblings with cerebellar atrophy and cap myopathy

Arun K. Ramani, C. Marshall, K. Boycott, 2021, Clinical genetics.

RB1 Deletion in Retinoblastoma Protein Pathway-Disrupted Cells Results in DNA Damage and Cancer Progression

J. Sage, F. Dick, Andrea C Chaikovsky, 2019, Molecular and Cellular Biology.

An RB-Condensin II Complex Mediates Long-Range Chromosome Interactions and Influences Expression at Divergently Paired Genes

F. Dick, Aren E. Marshall, Charles A. Ishak, 2019, Molecular and Cellular Biology.

RNA sequencing resolves novel DYNC2H1 variants causing short-rib thoracic dysplasia type 3: Case report.

K. Boycott, K. Kernohan, Yijing Liang, 2023, Molecular genetics & genomic medicine.

RB1 deletion in RB-pathway disrupted cells results in DNA damage and cancer progression

J. Sage, F. Dick, Andrea C Chaikovsky, 2019, bioRxiv.

ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies.

M. Tarnopolsky, K. Boycott, K. Kernohan, 2021, American journal of human genetics.

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.

M. D. Del Bigio, K. Boycott, J. Christodoulou, 2021, Human molecular genetics.

Biallelic SOX8 Variants Associated With Novel Syndrome With Myopathy, Skeletal Deformities, Intellectual Disability, and Ovarian Dysfunction

Hanns Lochmüller, K. Boycott, J. Woulfe, 2023, Neurology: Genetics.