|
| 37961182 | BRN1/2 Function in Neocortical Size Determination and Microcephaly. | bioRxiv | 2024 |
| 37961182 | BRN1/2 Function in Neocortical Size Determination and Microcephaly. | bioRxiv | 2024 |
| 36322151 | Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. | Genet Med | 2023 |
| 36097331 | A neural stem cell paradigm of pediatric hydrocephalus. | Cereb Cortex | 2023 |
| 36322151 | Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature. | Genet Med | 2023 |
| 37986891 | Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. | bioRxiv | 2023 |
| 37985666 | Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. | Sci Data | 2023 |
| 38077003 | Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. | bioRxiv | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 36711756 | Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain. | bioRxiv | 2023 |
| 37005340 | A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. | Clin Genet | 2023 |
| 37252957 | Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. | Proc Natl Acad Sci U S A | 2023 |
| 37126322 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | JAMA Neurol | 2023 |
| 38077003 | Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. | bioRxiv | 2023 |
| 37986891 | Cell lineage analysis with somatic mutations reveals late divergence of neuronal cell types and cortical areas in human cerebral cortex. | bioRxiv | 2023 |
| 37985666 | Genomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases. | Sci Data | 2023 |
| 37873196 | Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease. | medRxiv | 2023 |
| 37126322 | Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy. | JAMA Neurol | 2023 |
| 37252957 | Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome. | Proc Natl Acad Sci U S A | 2023 |
| 37344571 | BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients. | Eur J Hum Genet | 2023 |
| 37005340 | A recurrent de novo variant in NUSAP1 escapes nonsense-mediated decay and leads to microcephaly, epilepsy, and developmental delay. | Clin Genet | 2023 |
| 36711756 | Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain. | bioRxiv | 2023 |
| 36097331 | A neural stem cell paradigm of pediatric hydrocephalus. | Cereb Cortex | 2023 |
| 34389641 | Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. | Cancer Discov | 2022 |
| 35706131 | The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. | Epilepsia | 2022 |
| 36228617 | Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. | Dev Cell | 2022 |
| 36163278 | Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements. | Nat Genet | 2022 |
| 35444284 | Somatic genomic changes in single Alzheimer's disease neurons. | Nature | 2022 |
| 35379995 | Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. | Nat Neurosci | 2022 |
| 35688811 | Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. | Nat Commun | 2022 |
| 36207339 | Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. | Nat Commun | 2022 |
| 35871307 | ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. | Ann Clin Transl Neurol | 2022 |
| 36051457 | Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. | Nat Aging | 2022 |
| 34990576 | Brain ventricles as windows into brain development and disease. | Neuron | 2022 |
| 35045343 | Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. | Am J Hum Genet | 2022 |
| 34906466 | Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. | Genet Med | 2022 |
| 34389641 | Rates and Patterns of Clonal Oncogenic Mutations in the Normal Human Brain. | Cancer Discov | 2022 |
| 35322263 | Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders. | Nat Rev Neurosci | 2022 |
| 35444284 | Somatic genomic changes in single Alzheimer's disease neurons. | Nature | 2022 |
| 35706131 | The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. | Epilepsia | 2022 |
| 35379995 | Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus. | Nat Neurosci | 2022 |
| 35688811 | Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. | Nat Commun | 2022 |
| 35871307 | ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection. | Ann Clin Transl Neurol | 2022 |
| 36207339 | Prevalence and mechanisms of somatic deletions in single human neurons during normal aging and in DNA repair disorders. | Nat Commun | 2022 |
| 36228617 | Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis. | Dev Cell | 2022 |
| 36163278 | Single-cell genome sequencing of human neurons identifies somatic point mutation and indel enrichment in regulatory elements. | Nat Genet | 2022 |
| 36051457 | Somatic mutations in single human cardiomyocytes reveal age-associated DNA damage and widespread oxidative genotoxicity. | Nat Aging | 2022 |
| 35045343 | Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder. | Am J Hum Genet | 2022 |
| 34906466 | Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans. | Genet Med | 2022 |