Publications
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.
Biallelic hypomorphic mutations in HEATR5B, encoding HEAT repeat-containing protein 5B, in a neurological syndrome with pontocerebellar hypoplasia. European Journal of Human Genetics.
Sperm mosaicism: implications for genomic diversity and disease. Trends in Genetics.
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. Genetics in Medicine.
A founder mutation in PEX12 among Egyptian patients in peroxisomal biogenesis disorder. Neurological Sciences.
Insight into developmental mechanisms of global and focal migration disorders of cortical development. Current Opinion in Neurobiology.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome. European Journal of Human Genetics.
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.
Editorial overview: Neurodevelopment Diseases and Neurogenetics pivot towards mechanisms and therapies. Current Opinion in Genetics and Development.
Molecular diagnosis in recessive pediatric neurogenetic disease can help reduce disease recurrence in families. BMC Medical Genomics.
Loss of the neural-specific BAF subunit ACTL6B relieves repression of early response genes and causes recessive autism. PNAS.
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephaly. Journal of Medical Genetics.
For a complete list of publications from Dr. Gleeson and his lab, read here.