Publications
2024
The contribution of de novo coding mutations to meningomyelocele. Medrxiv
Cell-type-resolved mosaicism reveals clonal dynamics of the human forebrain. Nature
Personalized antisense oligonucleotides 'for free, for life' - the n-Lorem Foundation. Nature Medicine
Risk of meningomyelocele mediated by the common 22q11.2 deletion. Science, PDF
2023
Stem cell–based organoid models of neurodevelopmental disorders. Biological Psychiatry.
TMEM161B modulates radial glial scaffolding in neocortical development. PNAS.
Comprehensive multi-omic profiling of somatic mutations in malformations of cortical development. Nature Genetics.
Control-independent mosaic single nucleotide variant detection with DeepMosaic. Nature Biotechnology.
2022
Evaluating human mutation databases for "treatability" using patient-customized therapy. Med.
The Neurobiology of Modern Viral Scourges: ZIKV and COVID-19. Neuroscientist.
Unbiased mosaic variant assessment in sperm: a cohort study to test predictability of transmission. eLife.
Somatic mosaicism reveals clonal distributions of neocortical development. Nature.
2021
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome. American Journal of Human Genetics.
A Human Pleiotropic Multiorgan Condition Caused by Deficient Wnt Secretion. New England Journal of Medicine.
Developmental and temporal characteristics of clonal sperm mosaicism. Cell.
A human three-dimensional neural-perivascular 'assembloid' promotes astrocytic development and enables modeling of SARS-CoV-2 neuropathology. Nature Medicine.
2020
Autism risk in offspring can be assessed through quantification of male sperm mosaicism. Nature Medicine.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly. Nature Communications.
Closing in on Mechanisms of Open Neural Tube Defects. Trends in Neuroscience.
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. PNAS.
For a complete list of publications from Dr. Gleeson and his lab, read here.